Official Publication of Down Syndrome International DSQ Down Syndrome Quarterly Volume 9 Issue 2, 2007

Published by the Together.Down Hand in Hand. Syndrome Research Foundation Down Syndrome Quarterly

EXECUTIVE EDITORS

HEALTH/INTERVENTION MEDICAL/GENETICS PERCEPTION/COGNITION SOCIAL DEVELOPMENT EDUCATION Elizabeth Kay-Raining Bird Cheryl Wellington Matthew Heath Deborah Fidler Monica Cuskelly Ph.D. Ph.D. Ph.D. Ph.D. Ph.D. Dalhousie University University of British Columbia University of Western Ontario Colorado State University University of Queensland

EDITORIAL BOARD

Roy Brown, Ph.D. Down Syndrome Research Foundation William Cohen, M.D. INTERNATIONAL University of Minnesota BOOK REVIEW CORRESPONDENTS COORDINATOR Jesus Florez, Ph.D. Patrick Clark University of Cantabria Robert Melrose, M.L.I.S. Ireland Librarian, DSRF Robert Haslam, M.D. Vanessa Dos Santos Emeritus, University of Toronto South Africa Eiichi Momotani Ira Lott, M.D. Japan Irvine University Penny Robertson Anne Jobling, Ph.D. Indonesia University of Queensland Balbir Singh Sigfried Pueschel, M.D. Singapore Harvard University ABSTRACTS COORDINATOR Bridget Snedden Sam Thios, Ph.D. New Zealand Denison University David S Smith, M.D. Paul Zanon Naznin Virji-Babul, Ph.D. Medical College United Kingdom Down Syndrome Research Foundation of Wisconsin Daniel Weeks, Ph.D. Simon Fraser University Jennifer Wishart, Ph.D. Edinburgh University

ASSOCIATE EDITORS

Len Leshin, M.D. Brian Maraj, Ph.D. Joanne Nye, Ph.D. Paediatrician & Parent, Corpus Christi, Texas University of Alberta University of Bristol

Dominic Simon, Ph.D. Sarah Wood, Ph.D. New Mexico State University Queen Margaret University College. Edinburgh

MANAGING EDITOR Josephine Mills, M.S.M.

2 DOWN SYNDROME QUARTERLY • VOLUME 9 • ISSUE 2 • MAY 2007 Down Syndrome Quarterly

The aim of the Down Syndrome Quarterly (DSQ) is to provide easy access to research papers and evaluated results for clinicians, professionals, and families. The journal will have a broad focus and cover a wide range of topics relating to contents Down syndrome. It will include relevant research abstracts, commentaries relating the research to practice, peer reviewed VOLUME 9 • ISSUE 2 • MAY 2007 research papers, literature reviews, and regional reports. It will include reports and international work, especially encouraging submissions from developing countries. There will be the opportunity to exchange ideas, and discussion papers on key research issues will be included. The Applications and Potential of RNA Interference for Down Syndrome Research and Therapy The small editorial board will ensure that the journal achieves its PAGES 4–7 mandate and goals. An international and widely knowledgable review board will act as reviewers and commentators. Contact commentary will be developed with regional representatives to encourage Social Ethics and Values Leadership participation from all areas. and their Effect on the Life Prospects of People with Disabilities subscription information PAGES 8–12

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DOWN SYNDROME QUARTERLY • VOLUME 9 • ISSUE 2 • MAY 2007 3 The Applications and Potential of RNA Interference for Down Syndrome Research and Therapy An Initial Review: Part I

By Thomas J. Torda Corresponding Information Independent Contract Engineer Thomas J. Torda, Ph.D. Fairfax, VA, USA 12197 Wild Horse Drive, Fairfax VA, USA 22033 © 2007 by Thomas J. Torda email: [email protected]

Abstract The present study, aimed at the educated layman (while keeping the specialist in mind) and intended as an update to a previous DSQ paper (Torda, 1998), attempts an initial review of the applications and potential of RNA interference (RNAi) for Down syndrome (DS) research and therapy, based on PubMed studies and a few online sources. The goal of this review which, to the author’s knowledge, has not previously been attempted, is to contribute some thought-provoking ideas on RNAi-based applications and potential therapies for DS, as well as to provide a review of recent (2000-2006) milestones in DS molecular genetics research that provide a foundation for applications of RNAi. Such milestones as the publication of the human chromosome 21 sequence, the first DS-patient stem cell research, and recent (June 2006) breakthroughs in DS signaling pathway research focusing on just two critical genes (DSCR1 and DYRK1A) — as well as a major breakthrough in targeted delivery of RNAi-mediated therapeutics into primates and significant progress in large-scale screening techniques — suggest that tools are in place for RNAi-based therapy for DS in the foreseeable future.Two tables.

research Keywords: Down syndrome; RNA interference (RNAi); Applications; Potential; Therapies

Introduction 1. Brief History and Fundamentals of RNAi In late 2006, the Nobel Committee announced that the Nobel Over two decades ago, two groups (Mizuno et al., 1984; Izant Prize in Physiology or Medicine 2006 had been awarded to and Weintraub, 1984) studying expression of the E. coli ompF Profs. Andrew Z. Fire of Stanford University and Craig C. Mel- gene and of the herpes simplex virus thymidine kinase gene, lo of the University of Massachusetts Medical School. Dr. Ber- respectively, found that “anti-sense RNA” can bind to a comple- til Daneholt, a Swedish professor of molecular genetics and mentary sequence in messenger RNA (mRNA), and thus inhibit Chairman of the Nobel Assembly, stated that this award was translation. (Translation is the process wherein the gene-tran- for “...their discovery [Fire et al., 1998] that double-stranded scribed mRNA is expressed with the aid of transfer RNA into a RNA triggers suppression of gene activity in a homology-de- protein; the anti-sense RNA nucleotides that are complemen- pendent manner, a process named RNA interference (RNAi). tary to the mRNA nucleotides A, C, G and U are U, G, C, and Their discovery revealed a new mechanism for gene regula- A, respectively) Six years later, two other groups (Napoli et al., tion, and the biochemical machinery involved plays a key role 1990; van der Krol et al., 1990) reported “homology-dependent in many essential cellular processes. Today, double-stranded gene silencing” in petunias—the phenomenon whereby incor- RNA is used as a powerful tool to experimentally elucidate poration of a cloned gene into a genome not only can stimulate the function of essentially any gene in a cell. The discovery of gene activity, but also can inhibit expression of homologous RNAi has already had an immense impact on biomedical re- sequences; this type of gene silencing occurred at the post- search and will most likely lead to novel medical applications transcription level, and thus was called “post-transcriptional in the future” (Daneholt, 2006). gene silencing” (PTGS). Other groups extended PTGS to the animal kingdom, specifically to the nematode Caenorhab- This enormously influential technique – as evidenced by a Janu- ditis elegans (Wightman et al., 1993); discovered that both ary 2007 PubMed search on “RNA interference” which returned “sense RNA” (i.e. RNA with the same base-pair sequence as 8500 articles, 5000 of which were published since January 2005 mRNA) and anti-sense RNA could generate PTGS in C. el- – has revolutionized biotechnology in laboratories worldwide. egans (Guo and Kemphues, 1995); and compared the PTGS effects of sense and anti-sense RNA (Jorgensen et al., 1996). The text is organized into an introduction and five sections: (1) a brief history and basic principles of RNAi; (2) a brief With this foundation, Profs. Fire and Mello and colleagues (Fire summary of the significance of RNAi; (3) recent (2000-2006) et al., 1998) resolved the puzzle of sense vs. anti-sense RNA milestones and major developments in DS molecular biology by first predicting the phenotype of severe twitching move- and genetics; (4) RNAi applications in DS research, especially ments, and then separately injecting single-stranded RNA (ss- recent (June 2006) breakthrough studies in DS pathways; and RNA) and double-stranded RNA (dsRNA) into the C. elegans (5) the potential of RNAi for R&D of future therapies for DS, gonad. The ssRNA injection (both sense and anti-sense types) and remaining challenges. failed to induce the predicted phenotype, however, injection of

4 DOWN SYNDROME QUARTERLY • VOLUME 9 • ISSUE 2 • MAY 2007 The Applications and Potential of RNA Interference for Down Syndrome Research and Therapy: Part I dsRNA not only caused the predicted phenotype, but also ef- ological traits). In on such study, the authors wrote, “A broad ficiently reduced the target mRNA—just a few molecules of in- functional classification of these genes, their expression data jected dsRNA per cell totally silenced expression of the gene, and evolutionary conservation, and comparison with the gene without affecting other genes. Fire and Mello found that injec- content of the major [DS] mouse models” suggest how the tion of the dsRNA into the nematode gut spread the effect into chromosome sequence may aid an understanding of the com- other tissues, and generated gene silencing throughout the plex DS phenotype (Gardiner and Davisson, 2000). roundworm; they also found that injection of another gene’s dsRNA into the worm’s gonad resulted in total loss of the cor- A University of Geneva Medical School (UGMS) researcher responding mRNA in the worm’s embryos. and his U.S. and Australian co-authors wrote that the comple- tion of HSA21 sequencing and development of animal models Within 1 year of the Fire/Mello study, RNAi had been demon- provide the molecular infrastructure to elucidate the molecu- strated in 13 other organisms, including vertebrates (zebrafish) lar mechanisms of the different DS phenotypes. They added: (Tuschl et al., 1999). In two critical papers, three researchers “The study of the overexpression of single genes, and the from a German institute showed via a fruit-fly in vitro system dysregulation of global gene expression will enhance the un- that the mediators of RNAi were 21-nucleotide (nt) and 22- derstanding of the pathogenesis of the cognitive impairment” nt RNA fragments called short-interfering RNAs (siRNAs) of DS, and also described the application of high-throughput (Elbashir et al., 2001a), and that 21-nt siRNA duplexes can screening (HTS) tools such as DNA microarrays and serial specifically suppress expression of genes in different mam- analysis of gene expression (SAGE) (Antonarakis et al., 2001). malian cell lines, especially NIH/3T3 mouse fibroblasts, COS- In later papers, UGMS researchers respectively described the 7 African green monkey kidney cells, and HeLa S3 human post-HSA21-sequence era (Antonarakis et al., 2003) and the epithelial carcinoma cells (Elbashir et al., 2001b). contribution of genome-wide analytical methods, comparative genomics, and functional genomics, which, along with mouse Space limitations preclude a more detailed review of RNAi. models, are identifying the chromosome’s functional compo- Among many recent reviews of RNAi are two focusing on nents, in turn setting the stage for the functional characteri- differentiating mammalian embryos (Baeriswyl and Stoeckli, zation of the sequences and an understanding of phenotypic 2006; Edwards, 2006), one addressing neurological disorders variability (which may be due to genomic variability) and the (Federici and Boulis, 2007), and one on strategies for silenc- complex molecular mechanisms involved in protein dosage ing human disease (Kim and Rossi, 2007). imbalance (Antonarakis et al., 2004).

2. Summary of the Significance of the RNAi Discovery Other papers address the comparative genomic sequence The discovery of RNAi is significant in six areas: (1) RNAi analysis of a region of HSA21—the “largest comparison of research protects against viral infection, (2) RNAi ensures genome sta- finished mouse and human sequence to date for a 1.35-Mb bility by keeping mobile genomic elements inactive, (3) RNAi- region of mouse chromosome 16” corresponding to a 21q like mechanisms repress protein synthesis and regulate the section of HSA21—including part of the “Down syndrome development of organisms, (4) these mechanisms keep the critical region” (DSCR) (Toyoda et al., 2002); global up-regu- chromatin (the network of DNA fibres and protein forming chro- lation of HSA21 gene expression in brain tissues of human mosomes) condensed and suppress transcription, (5) RNAi fetuses with trisomy 21, a hypothesis often assumed but not offers a new experimental tool for specific gene suppression, previously assessed on a chromosome-wide basis (Mao et and (6) RNAi may be a useful tool in future gene therapy al., 2003); and the identification of 126 novel RNA transcripts (Daneholt, 2006). Several of these areas are explored below. via a high-density oligonucleotide array-based analysis of the HSA21 and HSA22 transcriptomes (i.e., all products of 3. Recent (2000-2006) Milestones and Major gene transcription), and constituting a 49% rate of new “an- Developments in DS Research notation” (description of gene-transcribed products) (Kampa et al., 2004). It should be noted that not all genes follow the 3.1. Publication of the Near-Complete DNA Sequence pattern described by Mao et al.; in a transcriptome analysis of HSA21 and Follow-on Studies of human fetal trisomy cells (both t21 and t13), Scottish re- Any update of DS research over recent years must begin with searchers have reported that more than 95% of misregulated the May 2000 publication of the near-complete DNA sequence genes did not map to the trisomic chromosome, although “sig- of HSA21. In that month, Nature journal reported the results nificant misregulation” was more common in t13 than in t21 of a major international cooperative project led by researchers (Fitzpatrick et al., 2002). at Japan’s RIKEN Genomic Sciences Center and Germany’s Max Planck Institute in Berlin: the high-accuracy sequencing These genome and transcriptome analyses—as well as the of 33,546,361 base pairs (bp), or 33.55Mb (megabase pairs), signalling pathway analysis breakthroughs highlighted in Sec- and a gene catalogue of the long arm (21q) of HSA21, cover- tion 4.2—have been aided by major databases, such as the ing 99.7% of 21q. This effort revealed 127 known genes, 98 aforementioned HSA21 gene list (at University of Colorado at predicted genes, and 59 pseudogenes (Hattori et al., 2000). Denver) and GenomeRNAi, a database for cell-based RNAi phenotypes (Horn et al., 2007). Also, increasing applica- As an initial gene catalogue, 225 genes quickly proved an un- tion of HTS (Madhani, 2006; Friedman and Perrimon, 2006; derestimate. Re-annotation of the sequence soon identified Perrimon and Mathey-Prevot, 2007) and other quantitative 364 genes (Gardiner et al., 2003) and current numbers are screening techniques such as array comparative genomic hy- closer to 500 (Gardiner, personal communication, Feb. 2007). bridization (aCGH) (Ronan et al., 2007) have enabled efficient Studies since 2000 have focused on the implications of the analysis of complex pathways such as MAPK networks, and original 225 genes (127 and 98 predicted) as candidates for thus identification of which DS-implicated genes are associ- involvement in the DS phenotype (i.e., distinguishing physi- ated with specific phenotypes.

DOWN SYNDROME QUARTERLY • VOLUME 9 • ISSUE 2 • MAY 2007 5 The Applications and Potential of RNA Interference for Down Syndrome Research and Therapy: Part I

3.2. Studies of the HSA21 Proteome be found at http://chr21db.cudenver.edu, and carefully notes Three studies on the predicted HSA21 proteome (all of its en- that a recent study (Clark et al., 2006) shows that the selective coded proteins) address the following: (1) construction of DS serotonin reuptake inhibitor (SSRI) fluoxetine augmented neu- protein interaction maps, including those for 13 HSA21 pro- rogenesis and cell survival in the hippocampi of Ts65Dn mice teins in the mitogen-activated protein kinase (MAPK) and cal- to levels comparable with euploid animals (i.e., those whose cium-calcineurin pathways, listed in Table 1 below (Gardiner et cells contain only complete sets of chromosomes). New (2006- al., 2004); (2) four HSA21 proteins (NRIP1, GABPA, DYRK1A, 2007) research on the critical calcineurin/NFAT pathway is dis- and SUMO3 [nuclear receptor inhibitor protein 1, GA binding cussed further in section 4.2. protein A, dual-specificity tyrosine-regulated protein kinase 1, and small ubiquitin-like modifier protein 3]) which contribute to 3.3. Brief Look at a Few Specific DS Research Results post-translational modification of transcription factors (TFs), in- over Recent Years cluding phosphorylation, dephosphorylation, and sumoylation Following are a few specific DS research results over recent (conjugation of SUMO proteins to lysines in target proteins) years: (1) the discovery in a 21q band of a new gene called (Gardiner, 2006); and (3) an HSA21 protein analysis, which DSCAM (Down syndrome cell adhesion molecule) involved first reviews available data on the over 400 genes encoded on in neuron differentiation (Yamakawa et al., 1998), followed by 21q, including their complex known protein interactions and ex- some 35 studies on this gene in humans and animals, includ- pression level in the brain, then (for the subset implicated in the ing its implication in the development of central nervous sys- DS cognitive phenotype) discusses neurological phenotypes tem structures; (2) a critical finding that the expression level of mouse models, and lastly highlights 10 proteins—NRIP1, of hippocampus-produced nerve growth factor (NGF) was DYRK1A, SUMO3, TIAM1, ITSN1, DSCR1, SOD (see Table 1 significantly decreased in the brains of the trisomic Ts65Dn for previous four), PCP4 (Purkinje cell protein 4), and OLIG1 mouse model of Down syndrome, and that an associated and OLIG2 (oligodendrocyte TFs)—recently found to have a neuron atrophy could be reversed by injection of NGF (Coop- function in biochemical and cellular pathways relevant to learn- er et al., 2001; discussed in Epstein, 2002); (3) the first DS- ing and memory (Gardiner and Costa, 2006). This third study patient stem cell research, showing that the neuron-growth- also mentions that the current complete HSA21 gene list can related protein SCG-10, regulated by REST (repressor element silencing transcription), was almost undetectable in DS fetal-cortex tissues compared to normal control samples, Table 1 (Adapted from Table 2 of Gardiner et al., 2004) suggesting a link between dysregulation of REST and some neurologic deficits seen in DS (Bahn et al., 2002; commen- tary in Miller, 2002), although a later experiment by a different research HSA21 Proteins Involved in MAPK group found no difference between DS and control samples and Calcium-Calcineurin Pathways (Sohn et al., 2003); (4) a study, using mice engineered to be trisomic only for those genome sections similar to the human endocytosis scaffold protein, activator of Ras and Rac Intersectin DSCR, which showed that three copies of the DSCR genes [two guonosine triphosphate (GTP)-binding proteins] and (ITSN1) were “not sufficient” and mostly not needed to produce the of JNK [c-Jun N-terminal kinase] cranio-facial anomalies in the DS phenotype (Olson et al., Synap- 2004; commentary in Nelson and Gibbs, 2004), although in phosphoinositol phosphatase functioning in endocytosis tojanin a human case, where only part of the so-called DSCR was and interacting with dynamin and ITSN1 (SYNJ1) triplicated, a diagnosis of DS was unequivocal at birth (Ronan et al., 2007) (this apparent conflict may be indicative of the serine-threonine protein kinase involved in endocytosis, RNA DYRK1A differences in gene content between mouse chromosome 16 processing, transcription, and Alzheimer’s disease (AD) and HSA21 as described in Gardiner et al., 2003); and (5) TIAM1 guanine nucleotide exchange factor specific for Rac studies on other genes such as SYNJ1, ITSN1, ETS2, APP, and RIP140 (reviewed in Gardiner et al., 2005). AD-associated amyloid precursor protein with various APP functions [Continued in Part II, Down Syndrome Quarterly, Issue 9.3 small ubiquitin-like protein whose overexpression indirectly August 2007] SUMO3 decreases production of APP-Aβ

DSCR1/ Acknowledgements calcineurin inhibitor activated by APP-Aβ and H2O MCIP1 The author expresses his gratitude to the Eleanor Roosevelt Institute’s Dr. Katheleen Gardiner for documents and critical indirect inhibitor of calcineurin and direct inhibitor of PCP4 calmodulin additions and corrections, and to Dr. Alfred Steinberg, Dr. Juan Arroyo, and Mr. Aziz Kaddouri for additional suggestions. SOD1 superoxide dismutase 1, produces H2O2

ETS2 a TF regulating APP and acted on by MAPK Thomas J. Torda, Ph.D. is an independent contractor who has GABPA another TF and target of MAPK worked in molecular biology since 2001; he has published in the U.S. Government serial S&T Perspectives, as well as articles in another TF and target of MAPK, implicated in acute non-government periodicals (Down Syndrome Quarterly, The RUNX1 megakaryoblastic leukemia seen in DS Denver Post, The Drama Review, and Theater Journal) and at Newsmax.com. RIP140 a transcription co-activator acting on estrogen and (=NRIP1) glucocorticoid receptors (ER, GR)

6 DOWN SYNDROME QUARTERLY • VOLUME 9 • ISSUE 2 • MAY 2007 The Applications and Potential of RNA Interference for Down Syndrome Research and Therapy: Part I

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DOWN SYNDROME QUARTERLY • VOLUME 9 • ISSUE 2 • MAY 2007 7 Social Ethics and Values Leadership and their Effect on the Life Prospects of People with Disabilities

Michael J. Kendrick, PhD Kendrick Consulting International Plenary Presentation, 4 Bullard Avenue, Holyoke, MA USA 01040 9th World Down Syndrome Congress [email protected] August 26, 2006 www.kendrickconsulting.org Vancouver, BC, Canada

Social Ethics and their Practical Consequences The personal consequences for people who are socially de- While there are many meanings to the terms “ethics” and valued are well understood. Their humanity will be diminished “social ethics”, they will be used here in the more sociologi- or ignored, and they may be: driven out of society or otherwise cal sense as referring to habitual attitudes and conduct that rejected; seen and treated as dangerous; treated as lacking have become culturally entrenched or embedded such that value and worth, ridiculed, mocked and patronized; subjected they are normative. In saying that these ethics are “norma- to horrific and often criminal life conditions and treatment such tive”, it is meant that they are collectively evident across as being abused, sterilized, denied routine medical care; be- large numbers of people as being the values and behav- come disproportionately the victim of crime; be killed or be iour that characterize their lives. This does not mean that part of more systematic genocide or infanticide. they would be embraced equally by all people, nor that they might be decisively rejected by some, but rather that “on There is an obvious underlying connection between “iso- average” they are valid descriptors of what people are like. lated” crimes like the Latimer murder in Saskatchewan and the mass killings by the Nazis of people with disabilities, in Social ethics are not the same as the values we publicly that both sets of murderers thought that the death of peo-

commentary express as being good, as what people would like to be ple with disabilities was preferable to having them live. For in an ideal sense is not at all what they might actually do those that are unfamiliar with these cases, a young woman in practice. Social ethics are commonly “taken for granted” with a disability was killed by her father in Saskatchewan and will not often be questioned by people. Wherever there apparently due to his belief that he was sparing her the pain are people, there will some sort of pattern of social ethics and suffering of living with her disability. He was found guilty present. Often, these will not reflect the values and priori- of murder by the Canadian courts, but the verdict was ques- ties that are supposedly approved by most people in com- tioned by a majority of the Canadian public on the grounds munities, as people’s personal conduct may well diverge that he was simply acting mercifully by taking her life. In the from what is supposedly socially acceptable. For instance, case of the holocaust, some people may be unaware of the few people will acknowledge that they are racist, selfish, killing of people with disabilities by the Nazi state on the unfair, dishonest, etc., yet their attitude and conduct may premise that their lives were “devoid of value”. In both in- well be so. stances, the killers had assumed that they were fit to judge the value of human life and conclude who would live or not. For people with disabilities such as Down syndrome, as well People with disabilities were deemed in both cases as be- as other groups who may be socially devalued by many ing unfit to live, though the motives for killing were different. parts of their communities, what others believe about them This negative example of social ethics helps make clear may not be a trivial matter at all. Due to our social history, that we are not in a world of vague social ethics and values, many people with disabilities have had far too many expe- and that the choices we make will have consequences for riences of being treated poorly by others. This is directly the kinds of lives people may, or may not, get to live. related to how people have perceived and evaluated them, and people with Down syndrome have very much shared There is also good news in these grim realities insofar as the same negative evaluations that other people with dis- we have witnessed that views of this kind can be success- abilities have experienced. fully challenged and that this has been done in regards to many people. Even more specifically, we have seen since This phenomena of negative social evaluation of people is the tragic days of the Nazi genocide of people with disabili- often referred to as “social devaluation”, and is upheld and ties, a massive correction in the direction of upholding the enforced by an underlying and often unconscious negative rights, dignity and value of persons with disabilities. This view of people. Typically, this will result in patterned behav- reversal has been so widespread that in many countries iour. In other words, people with disabilities are perceived people with disabilities are explicitly upheld by law as be- in negative social roles, such as sub-human, a burden, an ing citizens equal to all others. The fact that this is offset by object of pity, a menace, worthless, to be rejected, child- many people acting in a contrary fashion, should not take like, the object of ridicule and so forth. away from the fact that a relatively conscious and conse- quential social shift has taken place.

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It is now commonplace that people that were once hidden This is not just because of the fate of today’s devalued per- from sight and rarely spoken about several generations ago, sons or groups, but because these values and social ethics are now being routinely championed by millions as being de- have benefited prior groups in society in life enriching ways. serving of full social inclusion, noted for their gifts, capacities In the case of many western societies these values are ap- and contributions to community, treated as adults and not parent in phrases such as the following; children, have their rights, property and liberties protected, be able to live a life much like others enjoy, be seen to de- • The right to life and liberty serve equal access to opportunities, services and the insti- • Equality under the law tutions of society, occupy valued social roles, be respected • The unique value of each person when they speak and so on across all of life. This dramatic • The value of family and community change is no illusion and it highlights that our value choices • Justice and fairness and priorities can make a very meaningful difference. • Compassion and love for others • The benefit of positive presumption Unlike in grimmer times, we can see more clearly the ways • The worth of honour, friendship and solidarity in which the hidden potential and capacities of people with • The ability to dream and hope disabilities, including people with Down syndrome, have • The spiritual and sacred within our lives been unnecessarily held back by negative perceptions and assumptions. We can also see that as individuals and as It is obvious that when values such as these are internalized societies we hold in our hands the ability to make personal by large number of people as their personal social ethics, and collective choices that can range from those that are they offer many pathways for enhancing the lives of those “life-giving” to those that are “life denying”. At the same time, people who might be deprived of worth, opportunity and fair- it is also clear that people with disabilities cannot ultimately ness. Of course, pathways not taken are opportunities that escape the life consequences of society’s choices, though are lost or wasted. Hence, there needs to be the mobilization some limited refuges are possible. The key lesson is that of people, and that will require a distinct kind of leadership values and ethics can be very positive and it is important to that might be termed “values based leadership”. Even more assert them when we can. to the point, it would require leaders whose aim and loyalty is to the invigoration of very positive values, such that “life Responding to Social Devaluation with giving” consequences for people with disabilities might be Positive Social Values and Ethics able to flow with greater intensity and effect. Many of these We do not have to live in fear that society will reverse all of very positive values already are present in society, but may these gains with a turn towards past failings. We should ap- need to be energized more consciously and with determina- preciate that it is not inevitable that the clock will or must roll tion to the life challenges faced by people with disabilities. commentary backward. Nor does it mean that we must helplessly wait, paralysed to act, to have the verdict of history revealed. So- The Critical Role of Committed Values-Based cial values and ethics are matters that can be acted upon Leadership and Progressive Social Movements proactively rather than just reactively. Consequently, practi- Leadership is always a key catalyst in social change and cal people who want to ensure a “life-giving” outcome, must so it can be expected to be an equally significant factor in act and take personal leadership with the specific intention matters affecting the lives of people with disabilities. We in mind that they are part of the process of making positive have seen leaders who bring out both the worst in people choices that will bring about beneficial life options for people as well as leaders whose effect is inspiring, beneficial and with disabilities. Further, it also means that they will resist pro social. Given that leadership can be used for good or choices that threaten to deprive people with disabilities of all bad then we should evaluate potential leaders not only on that life could and should be for them. This process of the their technical capacities as leaders, but more importantly reversal of social devaluation is addressed quite systemati- on their aims, purposes and loyalties relative to people cally in the somewhat oddly named “social role valorization” with disabilities. In other words, what their values are. This theory that evolved from the family originated “normalization” would apply equally to leaders who are themselves living principles that emerged from Scandinavia in the 1950’s. with a disability, as it should not be automatically assumed that they will always act in a life giving way simply because This theory has promoted the achievement of valued social they live with a disability. roles for people with disabilities with all of the benefits that come with them. This is not a utopian hope. This is because Many people’s idea of what a leader is equates leadership most of the fundamentals that people with disabilities need with high status, occupying powerful positions, being char- for a good life are already widely available for most people ismatic and compelling, being able to be prominent and in community and could readily be made available to peo- extraverted and so on. While there may be times when such ple with disabilities. Nonetheless, this tendency in all of us assets are valuable, there are many leaders who do not con- to sometimes devalue other people is unrelenting and can form at all to these presumptive stereotypes of leadership. In only be offset by a determined and conscious effort on our fact, most everyday leadership is offered in small, obscure part in the other direction. and unnoticed ways. Yet “like a drop here and a drop there”, it all adds up over time. Part of our “life giving” nature can be upheld in the values history of a people or culture, providing these “life giving” This “small person” leadership is defined not by the bigness of values and social ethics are continuously applied to address the stage on which it is played out, but rather in the depth and and manage the emerging challenges of new eras. Many of importance of the social ethics and human treatment and mis- these values have repeatedly arisen and been embraced. treatment issues that are engaged. Sometimes, even in very

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small choices there can be the exercise of values leadership, Much of this kind of grass roots and informal leadership providing that these choices are in life giving directions. This does eventually manifest as significant visible changes is often noted in the “small” act of leadership of Rosa Parks, such as the gradual disappearance of conventional resi- a prominent civil rights figure of the American Civil Rights dential institutions by community based mini-institutions movement. Small choices of the wrong kind merely reinforce and other more personalized options. Each wave has left the existing empires and constituencies for life denying social life changed, depending upon what the specific emphasis ethics. We are never without these, so all choices are mean- was. Yet, while the outcomes eventually become visible, ingful in this regard, however minute they may seem. the slow grass roots transformations underlying them may occur in such obscure and incremental ways that the rel- These small acts may be considered leadership because evance of personal leadership and grass roots and “bottom they contain in them a willingness to create purposes and up” actions may well be overshadowed. What we tend to directions that alter the lives of people with disabilities in notice is that the behaviour of the social institutions who consciously helpful ways that enhance people’s life satis- are challenged by social movements eventually claim the faction and potential change as their own. Not unsurprisingly, the social move- ments that were the more primal catalyst for change may If one were to imagine that in the life of each person with not be appreciated or credited for the decisive role that they a disability there was at work a kind of battle for their lives may have played. After all, the countless face-to-face dia- to thrive or to be wasted and damaged, then in some cos- logues that are seminal in building persuasive social move- mic way one could see even small acts of leadership as ments may be much too invisible and numerous to be fully consequential. So, from such a hypothetical perspective, appreciated in a collective sense. everyday life is constantly presenting us with “occasions of significance” where we are repeatedly being asked to de- At the same time, substantive social changes are typically clare ourselves and what we stand for, albeit in quite tacit preceded by all manner of conflict and contention, as no and understated ways. It is also quite remindful that we are social order yields easily to the next. One only has to reflect not helpless in the face of events, as we all still have free on the many revolutions and upheavals that have brought agency as long as we are prepared to use our power to us to today’s order. Yet, in the heart of these disputes rest decide for ourselves. the new visions and messages that will eventually replace their predecessors, whether this be for better or worse or When such individual acts are seen in a more collective both. Since what is at stake are the lives, well-being and sense, then it becomes apparent that they combine and vested interests of both the former regime and the con- reinforce each other along the lines of their common mes- tender, there is considerable likelihood that any transfor- sage and direction, almost as if each was coordinated with mation will involve a contest of difficult to reconcile values, commentary the other, yet frequently the acts are independent, were social ethics and messages about what is possible or not in it not for the binding effect of common values and ethics. people’s lives. The social construction of truth claims by all These are called by social scientists collective behaviour or sides may well be more important than truth or fact. social movements. They occur when an ideology of change rises up to contest an established social order that thwarts Such struggle is not without value, however unattractive the the needed or sought change. Were the ability to make struggle may be for the protagonists, as it always holds the change through normal channels, there would be no need potential for transformations, should the underlying issues for social movements. Were there no personal leadership be deeply engaged and resolved. In the case of people with actions taken, there would be no social movement, as dis- disabilities the practical consequences may be as funda- sent would have no action component. mental as that they:

We are currently involved in an ongoing social movement • Get to live, affecting people with disabilities that has its early roots in the • Get ordinary but vital medical care, dissent of families and some professionals against a way of • Get to be part of groups and community, viewing people with disabilities that was largely custodial, • Get a job or an education, negative and very prejudicial. These roots go back until at • Get a new experience, least the 1950’s in Scandinavia and may have earlier unap- • Get new valued social roles, preciated origins. That early Scandinavian social movement • Get to be seen more accurately and positively, is often recognized by the name “normalization”. • Get liberated from stigma and prejudice, • Get their rights upheld and affirmed, and This movement was followed by a broadening of the num- • Get their voices heard and respected. bers and types of people taking leadership. This came to include people with disabilities in leadership roles through These are not trivial outcomes, yet they may at one point in self advocacy movements such as “People First” and the a struggle be portrayed as being so, much as men in power independent living movement. As these smaller movements long trivialized the question of women having the right to overlapped with larger ones and borrowed from each oth- vote prior to its eventual enactment in country after coun- er, many messages of change went from being seemingly try. For people with Down syndrome in some countries, it radical to gradually becoming mainstream. This is seen in may well mean that critical heart surgery will not be denied smaller movements within larger movements like deinsti- to them based on the belief that they are not worth it. In tutionalization, social integration, human rights, consumer other countries it may mean that they get to attend post and family directed services, person centred support op- secondary education. tions and so on.

10 DOWN SYNDROME QUARTERLY • VOLUME 9 • ISSUE 2 • MAY 2007 Social Ethics and Values Leadership and their Effect on the Life Prospects of People with Disabilities

Were there no values based leaders resolved to act at many • Linking Like-Minded Leaders through Informal levels throughout our communities, we would probably not Networks and Alliances be enjoying many of the benefits for people with disabilities While social movements do have their formal components, that we now enjoy today. This raises a very important ques- a great deal of what transpires is the building of informal tion. If values based leadership is so seminal and influential consensus as to vision and values. This everyday aspect in bringing about change, what are the things we might do of face-to-face dialogue is often strikingly important, yet it to help it flourish and have greater impact? If we see these occurs in the most informal of instances. This is because “values leadership investments” as worthy, then taken to- when leaders converse with others who share their vision, gether, we may be able to use each as a building block values and ethics, it acts to solidify, affirm and strengthen towards “better”, however we imagine that to be. the many things such persons have in common. This, in turn, builds a sense of unity and agreement that eventu- Some Typical Strategies for ally can take the form of united action. It is not a matter of Nurturing Values Based Leaders compelling alliances but rather of facilitating them. When potential leaders join forces behind a new vision, it brings • Creating, Describing and Expressing the Vision such visions closer to reality. If the unity amongst leaders and Social Ethics that are Now Most Needed is present, but the vision lacks merit, then it is possible that If there were not people who can see the ingredients of a damaging pathways may be pursued. This is why it is im- better world in the travails, tragedies and injustices of to- portant to define “life-giving” values. day, then we might well see the only way forward as be- ing resignation. Yet it is always possible to dream, whether • Exposure of Emergent Values-Based Leaders these dreams be immediately practical or not. Without the to Inspiring and Seasoned Leaders dreamers, visionaries, free thinkers and passionate early As individuals take up the leadership challenges that they combatants of the status quo, no change process would be see, it can be extremely helpful to engage on these issues triggered and no one would look beyond the realities of now with leaders that they admire and value, particularly when to those of what might someday be. It is in the unwillingness these leaders are experienced and can serve as enlightening to settle for what is true today that provides the hope that and helpful mentors and guides. Such experienced leaders other truths might gain strength someday and transform our thus serve as role models and as enablers and supporters of world. The fierce and profoundly loving commitment of fam- novice leaders as they settle into their personal leadership ilies of children and adults with Down syndrome to their hu- pathway. They can also help challenge and test new leaders manity, gifts and life potential, has in many important ways as they struggle to master the many challenges of change remade community life as we know it. and influence. In the instance of today’s many leaders who are persons with Down syndrome, we can already see how commentary • Engaging People in the Exploration of “Better” the example of each gives inspiration and practical mentor- A potent social movement will, through the catalyst of its ing to others who want to offer personal leadership. own leaders and visionaries, encourage people to their out- look and direction. In most cases, it will mean creating a Conclusion vision for what “could be”. This normally means asking for This discussion has been oriented to show how it is pos- and seeking something more ideal. Why this is so important sible to begin and strengthen some key change strategies in the instance of people with disabilities, is that so often that can make life better for people with disabilities, no mat- what is said to be ideal in regards to their lives is often trivial ter where one is personally located in community life. This and reinforcing of decidedly low expectations. So, given the is because change in any aspect of community life that is deprivation of life and opportunity that they experience, any genuinely for the better for people with disabilities can draw leadership towards “better” helps offset this tendency. When on other such examples and add their own reinforcing en- imagining better for people’s lives ceases, so does forward ergy and voice to broader efforts. All of this requires leader- movement and progress. Hopeful imaginings of “better” are ship from people with positive values and social ethics who the seeds of new lives for people. are willing to try to convert these convictions into action in everyday life. Fortunately, many people have done so and • Creating Examples of What Can Make a we are enjoying the fruits of their committed action today. Life Giving Difference For People This is why we should not relent in our efforts to support It is very difficult to “imagine better”, yet again and again, new values based leaders for the challenges of tomorrow. people will rise to this challenge. This should not be all that surprising, given how many obstacles to personal fulfilment a person with a disability may have to contend with on top of References the inherent challenges that most people face in this regard. Berry, Leonard L., (1999) Discovering The Soul Of Service, The Free So, it is all the more important to move from imagining to Press, New York, NY actually creating an example of dreams that come true. For Blanchard, Ken, Hodges, Phil, (2003) The Servant Leader, Thomas Nelson Inc., Nashville, TN many people, “seeing is believing”, so taking the decision to Cahn, Edgar S., (2004) No More Throw Away People; The Co-Produc- act on a dream may not only be beneficial for the person im- tion Movement, 2nd Edition, Essential Books, Washington, DC mediately affected, but for onlookers who see what really can Forsha, Harry I., (1992) The Pursuit Of Quality Through Personal be possible in a person’s life. It will not matter that the initial Change, ASQC Quality Press, Milwaukee, WI examples is small, as the key is that a line has been crossed Frankel, Paul, Miller, Fred D., Jr., Paul, Jeffrey, Editors, (1998) Virtue towards better. When you are the first person with Down syn- and Vice, Cambridge University Press drome in your community to own your own home or to have Gardner, John W., (1981) Self-Renewal, Third Edition, W.W. Norton your own business, then life will never be the same again. and Company, New York, NY

DOWN SYNDROME QUARTERLY • VOLUME 9 • ISSUE 2 • MAY 2007 11 Social Ethics and Values Leadership and their Effect on the Life Prospects of People with Disabilities

Gilbert, Martin, (2003) The Righteous; The Unsung Heroes Of The Kendrick, Michael J., (2002) “The Potential Role Of Advocacy In Im- Holocaust, Henry Holt and Co., New York, NY agining Better”, Frontline of Learning Disability, Issue 51, pp. 26- Granberg-Michaelson, Wesly, (2004) Leadership From The Inside 27, Dublin, Ireland Out, Crossroads Publishing, New York, NY Kendrick, Michael J., (2005) “The Leadership Challenges In Ireland Greenleaf, Robert K., (2002) Servant Leadership; A Journey Into The In Regards To Altering The Conditions Of Life For People With Nature Of Legitimate Power and Greatness, Paulis Press Disabilities”, The Frontline Of Learning Disability, pg.26-27, Kendrick, Michael (1994), “Personal and Public Leadership Chal- Dublin, Ireland lenges,” in V.J. Bradley, J.W. Ashbaugh and Blaney, B.C. (Eds) Kendrick, Michael J., (2006) “Community And Rights”, The Frontline Creating Individual Supports for People with Developmental Dis- Of Learning Disability, Issue 66, Dublin, Ireland abilities, Paul H. Brookes Publishing Company. Kendrick, Michael J., (2006) “Leadership, Alliances and Change”, Kendrick, Michael (1994), “Some Significant Ethical Issues in Resi- Interaction, Vol. 20/2, Australia dential Services”, Sundram, Clarence J., Editor, Choice and Kouzes, James, Pozner, Barry Z., (2003) Encouraging The Heart; A Responsibility: Legal and Ethical Dilemmas in Services for Per- Leaders Guide To Rewarding And Recognizing Others, Jossey sons with Mental Disabilities,” State of New York Commission on Bass Publishers, San Francisco, CA Quality of Care for the Mentally Disabled Langer, Ellen J., (1989) Mindfullness, Merloyd Lawrence Books, Kendrick, Michael, (1997), “The Leadership Challenge of Service Reading, MA Quality”, Interaction, Vol.11, Issue 1. MacIntyre, Alastair, (1984) After Virtue, 2nd Edition, University Of No- Kendrick, Michael J. (2000), “When People Matter More Than Sys- tre Dame Press, Notre Dame, Indiana tems”, in Proceedings of The Promise of Opportunity Confer- Northouse, Peter G., (1997) Leadership; Theory And Practice, Sage ence, Albany, NY USA, March 2000: New York State Commis- Publications, Thousand Oaks, CA sion on the Quality of Care for the Mentally Disabled, New York O’Brien, Patricia, Sullivan, Martin, (2005) Allies In Emancipation; State Developmental Disabilities Planning Council, New York Shifting From Providing Service To Being Of Support, Dunmore State Office of Mental Retardation and Developmental Disabili- Press, Melbourne, VIC, Australia ties and the Self Advocacy Association of New York State: Pub- Oliner, Samuel P., Oliner, Pearl M., (1988) The Altruistic Personality, lication Released December 2000 The Free Press,New York, NY. Kendrick, Michael J., (2000), “Some Observations on Several Endur- Schaefer, Nicola, (1999) Does She Knows She’s There?, Fitzhenry ing and Decisive Leadership Challenges in the Field of Disabil- and Whiteside, Markham, ON, Canada ity”, Monograph of the Australian Society for the Scientific Study Sennett, Richard, (1976) The Fall Of Public Man, W.W. Norton Co., of Intellectual Disability, Queensland Division (ASSID QLD Inc.), New York, NY Brisbane, Australia Sheilds, Sandra, Campion, David, The Company Of Others; Stories Of Kendrick, Michael J., (2000) “Some Initial Thoughts on Providing Belonging, Arsenal Pulp Press, Vancouver, BC, Canada, 2005 “Right Relationship Between Staff, Professionals And The Peo- Toch, Hans, (1965) The Social Psychology Of Social Movements, ple They Assist”, Queensland Advocacy Incorporated Newslet- Bobbs Merrill Co. ter, Part A and B Wolfensberger, W. (1984). A reconceptualization of normalization as so- Kendrick, Michael J. (2001) “Integrity and Advocacy” Gray, Barry and cial role valorization. Mental Retardation (Canada), 34(7), 22-26. Wolfensberger, W. (1995c). A brief introduction to Social Role Val-

commentary Jackson, Robin (Editors) Advocacy for People with Learning Disabilities, London: Jessica Kingsley Publishers 2001 orization: A high order concept for addressing the plight of soci- Kendrick, Michael (2001) “Personal Leadership And Its Contribution etally devalued people and for structuring human services. (Jap- To Service To Others”, Proceedings: Sharing The Road Confer- anese trans. by Y. Tomiyasu). Tokyo, Japan: K.K. Gakuensha. ence, 2001, Brisbane, Australia (Based on a revised and enlarged version of: Wolfensberger, W. Kendrick, Michael J., (2001) “The Empowering Value Of ‘Life-Giving’ (1992). A brief introduction to Social Role Valorization as a high- Assumptions About People”, Proceedings: Opening Keynote order concept for structuring human services. (2nd.(rev.) ed.). Presentation For the Congress “Crossing Boundaries” (“Over Syracuse, NY: Syracuse University Training Institute for Human Grenzen”), Hosted By Stichting Perspectief, Wageningen, Neth- Service Planning, Leadership, & Change Agentry.) ◪ erlands, September 12-15

DSQ Invites Adults with Down Syndrome to Share their Views with DSQ Readers

The Down Syndrome Quarterly is seeking submissions about adults with Down syndrome from around the world.

If you know of someone who has something to say about their experiences, an achievement they have made, or simply have a story to share, please email Managing Editor, Jo Mills at [email protected]. Photos are welcome.

12 DOWN SYNDROME QUARTERLY • VOLUME 9 • ISSUE 2 • MAY 2007 DSQ 2007 Selected Citations

David S. Smith, M.D. Assistant Professor, Medical College of Wisconsin

This issue has selected 2007 references from the Ovid and PsychInfo databases with the occasional comment. The focus is on references to human subjects and de-emphasis on prenatal diagnosis. There are a large number of references to prenatal diagnosis, and some of the significant ones may be included, but this is not the focus of our interests. Any suggestions will be taken into advisement. Not all references will be printed.

DENTAL EDUCATION & THERAPY

Backman B., Grever-Sjolander A.C., Bengtsson K., Persson Camarata S., Yoder P, Camarata M. (2006) J., Johansson I. (2007) Simultaneous Treatment of Grammatical and Children with Down Syndrome: Oral Development and Speech-Comprehensibility Deficits in Children Morphology After Use of Palatal Plates Between 6 and with Down Syndrome 48 Months of Age Downs Syndrome: Research and Practice. Aug;11(1):9-17. International Journal of Paediatric Dentistry. 17(1), 19-28. Children with Down syndrome often display speech-com- Abstract prehensibility and grammatical deficits beyond what would OBJECTIVE: The aim of this study was to describe the be predicted based upon general mental age. Historically, number of erupted teeth, sucking habits, tongue morphology, speech-comprehensibility has often been treated using tra- facial expression and speech in children with Down syndrome ditional articulation therapy and oral-motor training so there (DS) aged 48 +/- 6 months and treated from 6 months of age may be little or no coordination of grammatical and speech- with palatal plates in combination with speech and language comprehensibility treatment. The purpose of this paper is to therapy. METHODS: The research took the form of a multicen- provide the rationale for and preliminary evidence in support tre, multidisciplinary, longitudinal study of children with DS fol- of integrating speech and grammatical intervention using a lowed from the age of 6 months. A total of 37 children with DS type of recast treatment in six children with Down syndrome. were included. One child could not cooperate at all and was Speech-comprehensibility and MLU growth in generalisation excluded from the evaluations. In combination with speech sessions occurred in 4/6 and 5/6 participants, respectively. and language intervention provided by speech and language Using multiple baseline design logic, two of these participants therapists, the children used palatal plates provided by den- showed evidence of treatment effects on speech-comprehen- publications tists from 6 months of age. In the evaluation, the children in the sibility and two in MLU in generalisation sessions, respective- sample (n = 36) were compared with two similarly aged con- ly. The study constitutes a conservative test of the intervention trol groups: one group of children with DS who never had used effects for reasons that are discussed. The theoretical and ap- palatal plates (n = 31) and one group of children with normal plied significance of these findings are discussed. development (n = 36). The evaluation of oral parameters was performed by dentists after calibration. Registration of facial Commentary by Elizabeth Kay-Raining Bird expression and speech was done by a speech and language Associate Professor, School of Human Communication therapist, and the evaluation was done by two speech and Disorders at Dalhousie University in Halifax language therapists and one phonetician who were calibrated This article reports the results of an intervention study of the in joint discussions. RESULTS: In contrast to the children with effects of recasting with individuals with Down syndrome. DS in the control group, the subjects in the study were found Many studies have already demonstrated that recasting to have as many erupted teeth as the children with normal is effective in helping children with typical development or development. The prevalence of sucking habits did not differ language impairment to learn new grammatical forms. To a between the three groups. Only children with DS sucked their lesser extent, studies have demonstrated that recasting can tongue, a toy or other things in addition to a thumb or dummy. also help children use sounds correctly more often when they The prevalence of tongue diastase in the study group with DS speak. Recasts involve immediately repeating a child’s error was of the same magnitude as in the evaluation at the age of production, but correctly. 18 +/- 3 months. The palatal plates were used by 57-65% of the children without any larger problems. In the study sample, An example of a recast following a grammatical error is: the possible beneficial effects of palatal plate therapy were a Child: Two cat, mommy. Mother: Yes, two cats. lower prevalence of posterior cross-bite, a higher prevalence of frontal cusp-to-cusp relation and a lower prevalence of An example of a recast following a speech sound error is: frontal open bite. Evaluation of facial expression and speech Child: A tat [cat], mommy. Mother: Yes, a cat. showed a higher score for facial expression and a better com- municative capacity in the children in the study group than in It is believed that recasting works because the child hears the control children with DS. CONCLUSIONS: In children with the correct form immediately after his incorrect form and can DS, palatal plate therapy between 6 and 48 months of age therefore contrast the two in a way that allows learning to oc- in connection with speech and language intervention had a cur. As well, recasts are thought to work because the teaching positive effect on occlusion, oral motor function, facial expres- is done in a natural context (that is, during real conversations) sion and speech. No harmful effects were observed. Although and therefore children are more likely to generalize or extend this is a valuable method, however, it must be emphasized what they learn to other speaking situations. This is important that palatal plate therapy puts additional demands on already because generalization can often be a problem when children burdened children and their caretakers. are taught in less natural ways. To be effective, recasts need to be used frequently.

DOWN SYNDROME QUARTERLY • VOLUME 9 • ISSUE 2 • MAY 2007 13 DSQ 2007 Selected Citations

This is the first study of the use of recasting with children with related to the level of motor ability than to the level of per- Down syndrome. The 6 participants in the study were aged formance mental ability. COMMENT: Interestingly, the level four to seven years. A carefully controlled single-subject ex- of functional activities of 5 to 7-year-old children with Down perimental design was used. Each child is treated, using both syndrome was more related to the level of motor ability than types of recasts in the same conversations, for six months. to the level of performance mental ability. Measures of speech comprehensibility (the percentage of un- derstandable utterances) and grammar (the average length of utterances) are tracked before treatment starts (the baseline EPIDEMIOLOGY period) and throughout treatment. The effect of recast treat- ment is explored by comparing baseline performance with Freeman S.B., Allen E.G., Oxford-Wright C.L., Tinker S.W., treatment performance on each measure. The authors pro- Druschel C., Hobbs C.A., O’Leary L.A., Romitti P.A., vide preliminary evidence that recasting speech sound and Royle M.H., Torfs C.P., Sherman S.L. (2007) grammar errors in the same conversations can help at least The National Down Syndrome Project: Design and some children with Down syndrome become more under- Implementation standable and use longer utterances. They stress that future Public Health Reports. 122(1), 62-72. studies are necessary to provide stronger evidence for the usefulness of recasting for individuals with Down syndrome Abstract and to determine which individuals can profit most from the OBJECTIVE: The National Down Syndrome Project (NDSP), technique. Studies such as the one presented here begin to based at Emory University in Atlanta, Georgia, represents provide us with the data necessary to make informed choices a multi-site, population-based, case-control study with two when treating the pervasive speech and language difficulties major aims: (1) to identify molecular and epidemiological of individuals with Down syndrome. factors contributing to chromosome non-disjunction and the consequent packaging of an extra chromosome into an egg or sperm, and (2) to identify risk factors for Down syndrome- Lotan M. (2007) associated birth defects. METHODS: The six national sites Quality Physical Intervention Activity for Persons with represent approximately 11% of U.S. births. Cases were new- Down Syndrome [Review] borns with Down syndrome (trisomy 21), and controls were The Scientific World Journal. 7, 7-19. infants without major birth defects randomly selected from the same birth populations. Biological samples were collected Comment from case infants and their parents, and genetic markers were Persons with Down syndrome (DS) are at risk for a life of typed to determine the parental origin of chromosome 21 non- inactivity that can result in a multitude of medical problems disjunction. Each site interviewed parents of case and control including heart and vascular diseases. This review presents infants addressing pregnancy, medical and family history, oc- findings regarding the physical status of individuals with DS, cupation, and exposures. Sites collected medical information publications as well as proper interventions found to improve the physical on case infants. RESULTS: The NDSP enrolled 907 infants as fitness and general health for this population. This review was cases and 977 infants as controls (participation rates: 60.7% written with the intent to suggest practical directions in plan- for cases; 56.9% for controls). Participation rates varied widely ning and implementing quality physical intervention programs by site as did important demographic factors such as maternal for this population. age, race, and education. Non-disjunction during oogenesis accounted for 93.2% of the cases. Errors in spermatogenesis were found in 4.1%, and 2.7% were post-zygotic errors. CON- Volman M.J., Visser J.J., Lensvelt-Mulders G.J. (2007) CLUSIONS: This exceptional compilation of questionnaire, Functional Status in 5 to 7-Year-Old Children with clinical, and molecular data makes the NDSP a unique re- Down Syndrome in Relation to Motor Ability and source for ongoing studies of the etiology and phenotypic con- Performance Mental Ability sequences of trisomy 21. The combined approach increases Disability & Rehabilitation. 29(1), 25-31. study power by defining subgroups of cases by the origin of non-disjunction. COMMENT: “This exceptional compilation of Abstract questionnaire, clinical, and molecular data makes the NDSP a PURPOSE: To examine the contribution of motor ability and unique resource for ongoing studies of the etiology and phe- ‘performance’ mental ability on functional skills in children notypic consequences of trisomy 21.” with Down syndrome (DS). METHOD: A structural equation modelling approach was used to test the relation between motor ability, performance mental ability and functional sta- Mejia-Arangure J.M., Fajardo-Gutierrez A., Perez-Saldivar tus. Functional status was assessed with the Paediatric M.L., Gorodezky C., Martinez-Avalos A., Romero-Guzman L., Evaluation Disability Inventory (PEDI), motor ability with the Campo-Martinez M.A., Flores-Lujano J., Salamanca-Gomez Movement Assessment Battery for Children (M-ABC), and F., Velasquez-Perez L. (2007) performance mental ability was assessed with the Gross- Magnetic Fields and Acute Leukemia in Children with Form Board (GFB). Sixty-five children with DS, selected by Down Syndrome the Dutch Down Syndrome Foundation, were asked to par- Epidemiology. 18(1), 158-61. ticipate in the study. Data were analysed with the programme AMOS using the Bollen-Stine bootstrap method. Chi2 and Abstract NFI index were used as goodness-of-fit indices. RESULTS: BACKGROUND: We analysed effects of exposure to magnet- The fit of the model was good (chi2 4 = 1.35, p = 0.85; and ic fields on the expression of acute leukemia in children with NFI = 0.99). ‘Functional status’ explained 70% of the variance Down syndrome (who have a 20-fold higher risk of leukemia). in the model. Standardized regression weights indicated that METHODS: We performed a case-control study that included motor ability was a far better predictor of functional status of 42 children with both acute leukemia and Down syndrome as children with DS than performance mental ability (0.96 vs. cases and 124 healthy children with Down syndrome as con- 0.17). CONCLUSIONS: Limitations in functional activities of 5 trols. We obtained demographic information concerning the to 7-year-old children with Down syndrome seem to be more children and took spot measurements of magnetic fields at

14 DOWN SYNDROME QUARTERLY • VOLUME 9 • ISSUE 2 • MAY 2007 DSQ 2007 Selected Citations each residence. RESULTS: The odds ratio for direct meas- Henry E., Walker D., Wiedmeier .E., Christensen R.D. (2007) urements of magnetic fields >/=6.00 mG was 3.7 (95% confi- Hematological Abnormalities During the First Week of dence interval = 1.05-13.1). CONCLUSION: The association Life Among Neonates with Down Syndrome: Data from between magnetic fields and leukemia in children with Down a Multi-Hospital Healthcare System syndrome suggests the possibility of a causal role for mag- American Journal of Medical Genetics. Part A. 143(1), 42-50. netic fields in the etiology of leukemia among a genetically susceptible subgroup of children. COMMENT: This is from a Abstract case-control study that included 42 children with both acute Various haematological abnormalities have been reported leukemia and Down syndrome as cases and 124 healthy among neonates with Down syndrome. Thrombocytosis, children with Down syndrome as controls. They actually took thrombocytopenia, polycythemia, neutrophilia, transient my- spot measurements of magnetic fields at each residence. The eloproliferative disorder (TMD), and congenital leukemia have odds ratio for a magnetic field >/=6.00 mG was 3.7 with a all been reported. The two largest case series previously re- wide 95% confidence interval of 1.05-13.1, but it showed an ported involved 63 and 31 cases. To acquire haematological association between magnetic fields and leukemia in children data from a larger case series, we obtained all CBCs done with Down syndrome. According to “Power Lines and Cancer: during the first week after birth on all neonates with Down syn- Nothing to Fear” by John W. Farley, Ph.D. the magnetic fields drome cared for in an Intermountain Healthcare (IHC) hospital from power lines are typically about 2 mG and the earth’s field with a date of birth between January 1, 2001 and December is typically 300-500 mG. The majority of studies in children 31, 2005. During this period, 145,522 live births were recorded show no association. at 18 hospitals. Down syndrome was recognized in 226 (1 in 644). One hundred fifty-eight (70%) of these had one or more CBCs obtained before the seventh day (144 hr). Neonates HAEMATOLOGY / ONCOLOGY who did versus did not have a CBC in the first week had a similar gestational age, birth weight, percentage who were Hafeez S., Sharma R.A., Huddart R.A., Dearnaley D.P., LGA and SGA, and length of stay. Neutrophilia was the most Horwich A. (2007) common haematological abnormality detected, with 80% of Challenges in Treating Patients with Down’s Syndrome absolute neutrophil counts above the upper limit of normal and Testicular Cancer with Chemotherapy and for age. Six percent (9/158) had blasts identified on the blood Radiotherapy: the Royal Marsden Experience film and three, where this was persistent, were referred to the Clinical Oncology (Royal College of Radiologists). 19(2), 135-42. paediatric haematology service for further evaluation. The next most commonly detected abnormality was thrombocyto- Abstract penia, with 66% of platelet counts <150,000/microl, and with AIMS: With a life expectancy similar to the general popula- 6% of counts <50,000/microl. The mean platelet volume did tion, greater numbers of patients with Down’s syndrome are not correlate with the platelet count, but tended to run slightly being diagnosed with testicular cancer. Learning difficulties large (9.2 +/- 1.3 fl), with 24% of values above 10 fl. Only one and medical co-morbidity are common in this patient popula- had a platelet transfusion. Polycythemia was the next most publications tion and may lead to non-standard oncological treatment. We common haematological abnormality detected, with 33% of aimed to identify and discuss management challenges in the hematocrit values above 65% or haemoglobin concentrations treatment of these patients with chemotherapy and radiothera- above 22 g/dl. Six had a reduction transfusion. One patient py and report their clinical outcome. MATERIALS AND METH- had significant anaemia (haematocrit <15%) and received an ODS: The Royal Marsden Hospital urology database was erythrocyte transfusion. One had neutropenia associated with searched from 1982 to 2005 to identify all cases of patients an infection after bowel surgery. Neutrophilia, thrombocytope- with Down’s syndrome and histologically confirmed testicular nia, and polycythemia were the most common haematologi- cancer who were referred for consideration of chemotherapy cal abnormalities observed among neonates with Down syn- or radiotherapy. RESULTS: Nine patients were identified, of drome. Anaemia, thrombocytosis, and neutropenia were not whom eight received chemotherapy or radiotherapy. Two pa- more common than among neonates who do not have Down tients had bilateral tumours and four had crypto-orchidism. At syndrome. Haematological abnormalities were so common in the time of diagnosis, the patients were 21-50 years of age. Of this group that it seems reasonable to recommend that one or the 11 tumours identified, nine were seminomas and two were more CBCs be obtained on all neonates with Down syndrome. malignant teratoma undifferentiated. Five patients presented (c) 2006 Wiley-Liss, Inc. with stage I disease, of whom three received carboplatin and one received para-aortic radiotherapy as adjuvant treatment. Kwak H.I., Gustafson T., Metz R.P., Laffin B., Schedin P., Three patients presented with stage II disease, of whom two Porter W.W. (2007) were treated with carboplatin and one received combination Inhibition of Breast Cancer Growth and Invasion by chemotherapy followed by radiotherapy. One patient with Single-Minded 2s stage IV disease was treated with carboplatin. Five of nine Carcinogenesis. 28(2), 259-66. patients relapsed within 30 months, of whom three were suc- cessfully salvaged with radiotherapy and one with combina- Abstract tion chemotherapy. CONCLUSION: After standard and non- Single-minded 2 (SIM2) is a member of the bHLH-PAS family standard therapy for seminoma, the relapse rate for patients of transcription factors. SIM2 was initially identified by posi- in our cohort was high. Since relapsed disease is much more tional cloning on chromosome 21 and is thought to contrib- difficult to manage with combination chemotherapy on ac- ute to the etiology of trisomy-21 [Down syndrome (DS)]. In count of respiratory, cardiac and renal co-morbidity, adequate addition to the physical and mental deficiencies associated initial treatment is advised. Consideration of psycho-social is- with this genetic disease, it has become apparent that women sues and the multiple treatment strategies available is vital in with DS are 10-25 times less likely to die from breast cancer delivering optimal care to patients with Down’s syndrome and in comparison with age-matched normal populations. This is testicular cancer. COMMENT: The N is only 8. The relapse thought to be a result of gene dosage effect of tumour sup- rate was considered high. pressor genes on chromosome 21. Here, we report that a splice variant of SIM2, SIM2 short (SIM2s), is differentially ex- pressed in normal breast and breast cancer-derived cell lines

DOWN SYNDROME QUARTERLY • VOLUME 9 • ISSUE 2 • MAY 2007 15 DSQ 2007 Selected Citations

and is down regulated in human breast cancer samples. Re- NEUROLOGY establishment of SIM2s in MDA-MB-435 breast cancer cells significantly reduced proliferation, anchorage-independent Arabshahi B., Thompson E.D., Smergel E.M., growth and invasive potential. Consistent with its role as a Goldsmith D.P. (2007) transcriptional repressor, SIM2s directly decreased expression Long-Term Treatment of Antiphospholipid Syndrome- of matrix metalloprotease-3, a known mediator of breast can- Associated Cerebral Arterial Thromboses with cer metastasis. These results suggest that SIM2s has breast Intravenous Immunoglobulin: a Case Report tumour suppressive activity. COMMENT: Single-minded 2 Clinical Rheumatology. 26(2):251-3. (SIM2) is a transcriptional repressor that derives from the 21st chromosome. It represses know cancer mediators in breast Abstract cancer and may contribute to the 10-25 times less likely to die We report a now 13-year-old male with trisomy 21, hypothy- of breast cancer rate in people with Down syndrome. roidism, and insulin-dependent diabetes who developed acute hemiplegia due to the antiphospholipid antibody syndrome (APS) at age four. The risks of long-term anticoagulation were Sullivan S.G., Hussain R., Glasson E.J., Bittles A.H. (2007) initially considered to be high; hence, he was treated with The Profile and Incidence of Cancer in Down Syndrome monthly infusions of intravenous immunoglobulin (IVIG) at 2 Journal of Intellectual Disability Research. 51(Pt 3), 228-31. g/kg for 2 years and then every other month for 7 years. An- tiphospholipid antibodies were no longer detectable within 6 Abstract months and have continued to be negative. There was no clin- BACKGROUND: Down syndrome is one of the commonest ical deterioration or further changes on magnetic resonance causes of intellectual disability. As life expectancy improves arteriography over 7 years. IVIG may be an alternative thera- with early and more intensive surgical and medical treatments, peutic choice for children with APS who are not candidates for people with the disorder are more likely to exhibit classic mor- conventional anticoagulation. COMMENT: It worked. bidity and mortality patterns and be diagnosed with diseases such as cancer. METHODS: A profile of cancer cases among people with Down syndrome has been compiled, based on Head E., Lott I.T., Patterson D., Doran E., Haier R.J. (2007) the analysis of a linked data set that included information from Possible Compensatory Events in Adult Down Syndrome the Disability Services Commission of Western Australian and Brain Prior to the Development of Alzheimer Disease Neu- the State Cancer Registry. RESULTS AND CONCLUSIONS: ropathology: Targets for Nonpharmacological Intervention Although the total age- and sex-standardized incidence ratios Journal of Alzheimer’s Disease. 11(1), 61-76. (SIRs) for people with Down syndrome were similar to that for the general population, SIRs for leukaemia were significantly Abstract higher while the incidence of certain other types of cancers Adults with Down syndrome (DS) develop Alzheimer disease was reduced. Overall, there was a lower incidence of solid (AD) pathology progressively with age but clinical signs of de- publications tumours in Down syndrome, possibly reflecting the age pro- mentia are delayed by at least 10 years after the first signs of file of the study cohort. COMMENT: They compared linked disease. Some individuals with DS do not develop dementia databases in Western Australia to look at standardized inci- despite extensive AD neuropathology. Given the discordance dence rates. The overall incidence rate for people with Down between clinical decline and AD neuropathology, compensa- syndrome was similar to that for the general population, but tory events may be of particular relevance for this group. Im- the incidence of leukemia was significantly higher and the in- aging studies using PET suggest compensatory increases in cidence of solid tumours in Down syndrome was lower. The metabolic rate in vulnerable brain regions in DS prior to the rates were age and sex standardized. development of dementia. Neurobiological studies of similarly aged DS autopsy cases provide further evidence of activation of plasticity mechanisms. Genes that are over-expressed in MISCELLANEOUS DS (APP, DSCAM, MNB/DYRK1 A, and RCAN1) produce pro- teins critical for neuron and synapse growth, development and Santamaria L.B., Di Paola C., Mafrica F., Fodale V. (2007) maintenance. We present the hypothesis that these genes may Preanesthetic Evaluation and Assessment of Children lead to developmental cognitive deficits but paradoxically with with Down’s Syndrome [Review] aging, may participate in molecular cascades supporting neu- The Scientific World Journal. 7, 242-51. ronal compensation. Enhancing or supporting compensatory mechanisms in aging individuals with DS may be beneficial as Abstract suggested by intervention studies in animal models. In com- During pre-operative evaluation for anaesthesia in the Down bination, adults with DS may be a unique group of individuals patient, it is important to focus attention on the functional con- well-suited for studies involving the manipulation or upregula- ditions of the patient and systems that frequently show anom- tion of compensatory responses as an approach to promote alies. One of the challenges of evaluating pre-operative con- successful brain aging in the general population. (PsycINFO ditions and potential risks in the Down patient is the lack of a Database Record (c) 2007 APA, all rights reserved) gold-standard evaluation score; cervical spine abnormalities, reduced dimensions and malformations of the airways, neu- rological changes, respiratory and cardiac disease, as well as endocrinological and metabolic alterations. We suggest, as a possible method of evaluation for patients with mental retar- dation and possible malformations, a new scale which takes the functional and mental conditions into account: the Sen- sorial, Psychological, Anatomical, Biological, Operational and Surgical (SPABOS) Compliance Score.

16 DOWN SYNDROME QUARTERLY • VOLUME 9 • ISSUE 2 • MAY 2007 DSQ 2007 Selected Citations

PRENATAL DIAGNOSIS PSYCHIATRY & BEHAVIOUR

ACOG Committee on Practice Bulletins. (2007) Carter J.C., Capone G.T., Gray R.M., Cox C.S., ACOG Practice Bulletin No. 77: Screening for Fetal Kaufmann W.E. (2007) Chromosomal Abnormalities Autistic-Spectrum Disorders in Down Syndrome: Obstetrics & Gynecology. 109(1), 217-27. Further Delineation and Distinction from Other Behavioural Abnormalities Abstract American Journal of Medical Genetics. Part B, Neuropsychiat- In the last decade, numerous markers and strategies for Down ric Genetics. 144(1), 87-94. syndrome screening have been developed. Algorithms that combine ultrasound and serum markers in the first and sec- Abstract ond trimesters have been evaluated. Furthermore, the prac- The present study extends our previous work characterizing tice of using age cutoffs to determine whether women should the behavioural features of autistic-spectrum disorder (ASD) in be offered screening or invasive diagnostic testing has been Down syndrome (DS) using the Aberrant Behaviour Checklist challenged. The purpose of this document is to 1) present and (ABC) and Autism Behaviour Checklist (AutBehav). We exam- evaluate the best available evidence for the use of ultrasono- ined which specific behaviours distinguished the behavioural graphic and serum markers for selected aneuploidy screening phenotype of DS + ASD from other aberrant behaviour disor- in pregnancy and 2) offer practical recommendations for imple- ders in DS, by determining the relative contribution of ABC and menting Down syndrome screening in practice. COMMENT: AutBehav subscales and items to the diagnosis of ASD. A total New guidelines. We hope to have an issue related to this. of 127 subjects (aged 2-24 years; mean age: 8.4 years; ap- proximately 70% male), comprising: a cohort of 64 children and adolescents with DS and co-morbid ASD (DS + ASD), 19 with Boehm F.H. (2007) DS and stereotypic movement disorder (DS + SMD), 18 with Having a Perfect Child DS and disruptive behaviours (DS + DB), and 26 with DS and Obstetrics & Gynecology. 109(2 Pt 1), 444-5 no co-morbid behaviour disorders (DS + none) were examined using the aforementioned measures of aberrant behaviour. We COMMENT: A perinatologist becomes a grandfather to a child found that subjects with DS + ASD showed the most severe ab- with Down syndrome. He states “challenged and different can errant behaviour, especially stereotypy compared to DS + none still be perfect” and wonders that those in prenatal diagnosis and lethargy/social withdrawal and relating problems compared may have been on a search and destroy mission. to DS + SMD. Specifically, relatively simple stereotypic behav- iour differentiated DS + ASD from DS + DB, whereas odd/bi- zarre stereotypic and anxious behaviour characterized DS + ASD relative to DS + SMD and DS + none. Additionally, in a subset of subjects with DS + ASD and anxiety, social withdraw- publications al was particularly pronounced. Overall, our findings indicate that a diagnosis of DS + ASD represents a distinctive set of ab- errant behaviours marked by characteristic odd/bizarre stere- otypic behaviour, anxiety, and social withdrawal. ◪

Now on CD — the Theme Song from the 9th World Down Syndrome Congress in August 2006

Rick Scott and Pied Pumkin’s New CD and DVD Mo Concerto”. The “Angels Do” video stars Rick’s grand- featuring UPSIDE OF DOWN daughter Mielle who has Down syndrome.

A special song entitled “Upside of Down” was written for For more information or to purchase the CD or DVD, the 9th World Down Syndrome Congress held in Vancou- please visit the following sites: www.piedpumkin.com, ver, Canada, by children’s entertainer Rick Scott, his wife www.rickscott.ca, and www.dsrf.org. Valley Hennell and his friend Fred Penner. Rick (DSRF’s Goodwill Ambassador) and Fred performed the “Upside of Down” song several times during the Congress and re- ceived many requests for a recording of the special song.

The song is now available on Rick’s new CD “Pumkids”, recorded with his trio Pied Pumkin (with Joe Mock and Shari Ulrich). The CD contains 13 tuneful tales for kids of all ages, including English and French versions of “Up- side of Down”. There will also be a video of the song, us- ing video footage and still photos taken during the Con- gress. The Upside of Down video will be packaged in a DVD with two other popular songs, “Angels Do” and “Yo

DOWN SYNDROME QUARTERLY • VOLUME 9 • ISSUE 2 • MAY 2007 17 Global Books in Print & Book Reviews

Robert Melrose, MLIS Librarian, Down Syndrome Research Foundation

Edited by Rondal, J. and Perera, J. issues that, taken together, is specific to trisomy 21. Nadel (2006) (Chapter 5) moves to the consideration of the psychological phenotype of Down syndrome. The brain-behaviour relations Down Syndrome: associated with Down syndrome lead Nadel to conclude that Neurobehavioural Specificity a very specific pattern of deficits in cognitive functioning (as- sociated with hippocampal, prefrontal cortex, and cerebellar Chichester, England: function) can be distinguished from other forms of intellectual John Wiley & Sons Ltd. 223 pp. disability. Similarly, Devenny (Chapter 6) considers memory in its many forms and empirical distinctions. She concludes that the pattern of strengths and weaknesses in memory function implicate a characteristic Down syndrome profile. Given its re- Book Review by Daniel J. Weeks sponsiveness to experience and the considerable variability Simon Fraser University, BC, Canada in performance on memory tasks, Devenny argues that a full understanding of memory processes and their interaction with This edited volume is the outcome of a research symposium other components of information processing is an essential in Palma de Mallorca, organized by the Mallorcan Association first step in developing cognitive interventions. Indeed, the for Down Syndrome in February 2005. I had the good fortune intricacies underlying lexical development and specifying the to attend the symposium and have looked forwarded to read- linguistic profile associated with Down syndrome discussed ing the author’s expanded versions of their presentations. The by Rondal (Chapter 7) add credence to Devenny’s position. papers in this volume were motivated by a thematic mandate to explore the issue of “specificity” in Down syndrome. Indeed, Hodapp (Chapter 8) first undertook a conceptual analysis in the opening chapter, co-editor Juan Perera sets the agenda before addressing whether behavioural characteristics of

publications by proposing that the issue of specificity is of particular impor- Down syndrome meet specificity criteria. Hodapp concludes tance in the field of Down syndrome in that it: that few individual behaviours could be considered unique to • allows us to understand DS not just in terms of its aetiology Down syndrome. However, he goes on to suggest that the but also its consequences; degree to which profiles of particular strengths and weak- • provides the foundation for more effective and direct nesses or particular developmental trajectories are specific to intervention; and Down syndrome remains an empirical question. Perhaps the • is the defining principle of specialized DS associations, most salient point made by Hodapp is that “(w)ithout ties to which differ from those association serving individuals with underlying brain mechanisms or to intervention, the search non-specific mental retardation. for unique behavioural characteristics becomes an academic exercise.” Fidler (Chapter 9) clearly takes up this challenge. More generally the overarching question the volume seeks to Fidler presents some recent work from her own lab aimed at address is the degree to which persons with Down syndrome characterizing the personality motivation profile in persons demonstrate a sufficiently unique developmental profile so as with Down syndrome. What is striking, both in the chapter and to demand specific intervention strategies. One of the particu- in the talk she gave at the symposium, is the way in which lar strengths of the volume is that the chapters move through Fidler’s research paradigms are developed within an interven- various levels of analysis from the cell to society. At the most tion driven framework. As a consequence, Fidler’s work has fundamental level, Wisniewski and colleagues (Chapter 2) already matured to the point where implications for interven- provide an account of the recent research indicating that the tion are readily apparent. Down syndrome phenotype is not simply attributable to the extra genetic material associated with the trisomic chromo- Quazzo (Chapter 10) provides a broad overview of learning some 21. Rather, the evidence points to changes in gene difficulties associated with Down syndrome. Although the lit- and protein homeostasis that are a consequence of atypical erature reviewed was a bit dated the chapter does provide a gene-gene and protein-protein interactions. At a similar level reasonable introduction to the topic for an interested reader. of analysis, Patterson (Chapter 3) examines specificity in Fortunately, Spiker (Chapter 11) follows with an excellent re- the relation between the pathologies of Down syndrome and view of early intervention strategies that touch on a range of Alzheimer’s disease. Patterson concludes that and increased cognitive and social domains. Finally, Soresi and colleagues understanding of molecular specificity linking Down syndrome (Chapter 12) round out the volume with a consideration of fac- and Alzheimer’s disease will lead to targeted therapeutic inter- tors that impact on the family unit that includes a child with ventions aimed at alleviating consequent cognitive decline. Down syndrome. Two features of this chapter stand out. One is the lifespan view that Soresi provides and the other is the Quartino (Chapter 4) examines health aspects associated with insight into how parent and family intervention also works to Down syndrome in terms of specificity in clinical expression and ensure that parents are active and effective participants in the concludes that the overall picture favours a pattern of health success of intervention(s) developed for their children.

18 DOWN SYNDROME QUARTERLY • VOLUME 9 • ISSUE 2 • MAY 2007 Global Books in Print & Book Reviews

APPRAISAL that many children with Down syndrome had heart defects that In general the volume was well edited. Co-editors Rondal and were untreatable in the 1960s and that many never learned Perera are to be commended for the final quality of the volume to read, write or even talk without the supports in place. The given that many of the chapters were written by authors for future for his daughter would have likely been a very different whom English is not their first language. I have been studying scenario from that which we expect today. Regular schooling cognition and behaviour in persons with Down syndrome for would not be available, and speech therapy was in its infan- more than 20 years and the literature reviewed by each of the cy. The world was recovering from two World Wars, and was contributing authors will make this volue an extremely useful struggling to find teachers to educate even its typical children addition to my personal library. The chapters by Hodapp and for the challenges of the post-war years. Fidler stand out as thought provoking and in the case of Fidler, as mapping out an important research-to-intervention agenda. As the book progresses, the life of the adoptive mother be- My only criticism concerns what readership the book is aimed comes richer. It’s not without its challenges, and yet both at. In a synopsis of the volume on the back cover, the Editors mother and child grow from the interactions they have with indicate: Experts agree that children with Down syndrome do each other. Meanwhile, the birth mother struggles to deal with indeed show a specific developmental profile with strengths a child who has apparently died, but without a body to lay to in social understanding and visual learning and memory, and rest, and a husband who is not able to put aside his guilt. The more difficulties with motor processes, speech and language, family unit gradually dissolves. and auditory-vocal short term memory. It is important that parents, practitioners and teachers know this and adapt inter- As the parent of a child with Down syndrome, I found the book ventions and educational approaches to take account of this gave a wonderful balance between the day-to-day struggles particular profile. of raising a child with special needs, yet expressing what eve- ry family I speak to supports: the life’s lessons gained, and the For the most part, the content of the chapters is directed joy, richness, and fulfillment that a child with Down syndrome more toward an academic/research audience. In that context brings to the family. Kim Edwards must have talked to enough this volume is an excellent addition to the literature. How- families to know that at the end of the day, each one of them ever, with only a few notable exceptions, the contributions to wouldn’t choose anything different. this volume fall short of providing specific strategies or tactics from which to develop adaptive interventions and education It is this sense, that a child with Down syndrome adds another approaches. Of course, the difficulty in bridging the gap from dimension to a family, that makes this book so special. The research to practice is not unique to this edited volume and moral behind the book is straightforward. It is hard to read the does not diminish the importance of understanding neurobe- book without judging the father negatively, not only because havioural specificity as a crucial step in ensuring optimal of his abandonment of his child, but also because of the in- publications developmental trajectories for persons with Down syndrome ability of the family to recover. Meanwhile, with the supports through scientifically-based intervention. that have come into place in the last 30 years for children with Down syndrome, with the increasing acceptance by society, and the possibility of inclusive education, Phoebe thrives. Edwards, Kim (2005) It would be easy to accept this wonderful book on that simple level — that of a man whose decision, history shows, is less The Memory Keeper’s Daughter than ideal. Yet as a member of that same medical profession, Penguin Books I have to ask if we are doing any better? Caroline (Dr. Henry’s nurse who adopts the newborn child) could not leave Phoebe at the institution because she could not bear to think of this child living without the tenderness and love of a mother — commit- ISBN: 0143037145 ted to a life of isolation. Yet, in 1964, Phoebe and her DS co- horts were given life. Some were lonely and isolated, but maybe some thrived with parents like Caroline. We judge a man who Award-winning writer Kim Edwards’ The Memory Keeper’s could not accept Phoebe into his family, and yet are we above Daughter is a brilliantly crafted family drama that explores judgment? How will history judge our generation, where some, every mother’s silent fear: what would happen if you lost your through amniocentesis and abortion, control our families so that child and she grew up without you? On a winter night in 1964, only the typical children are allowed to survive? Dr. David Henry is forced by a blizzard to deliver his own twins. His son, born first, is perfectly healthy. Yet when his daughter Yes, I was scared when my son was born. Having worked in is born, he sees immediately that she has Down syndrome. acute pediatrics for the previous twenty years, I had seen all of the worst that could happen to our children, not just those with Book Review by Pauline Bingham DS. And yet, thirteen years later, I am so very glad that, like Parent / Physiotherapist, BC Children’s Hospital, Caroline, I accepted the challenge. Throughout the reading Vancouver, BC, Canada of this book, I found myself saying “yes, yes”, it was so accu- rate in much of its detail. I would like to think of it as required As the story unfolds, there is an unspoken judgment against reading for any parent considering raising a child with Down a man who would give up his child rather than face the chal- syndrome. As Kim Edwards so beautifully depicts in her novel, lenges of raising a child with Down syndrome. Yet I could un- our family is more able to face all the challenges of life. Dr derstand, if not support, his position. In that era he would not Henry’s family could not come together as a family unit. Was it know how to find resources to help his child. He would know just because of guilt or was it also, as I suspect, that adversity

DOWN SYNDROME QUARTERLY • VOLUME 9 • ISSUE 2 • MAY 2007 19 Global Books in Print & Book Reviews

and challenge can help to bind people closer together. Plus Harrison, J., Henderson, M., maybe a child with special needs is not the drain that we have Leonard, R. (2007) been led to believe, but rather just a child with both the ups and downs that Kim Edwards shows us. Different Dads: Fathers’ Stories of Parenting Disabled Children Jessica Kingsley Limited

Tien, B., Clelland, C. (2006) ISBN: 1-84310-454-7 ISBN 13: 978-1-84310-454-4 Win-Win Advice for the Inclusive Classroom: Practical Guidance to Inspire Parents and Educators to ‘Different Dads’ is a collection of personal testimonies written Live, Learn and Love the Journey by fathers of children with a disability who reflect on their own of Inclusion experiences and offer advice to other fathers and families on the challenges of raising a child with a disability. PREP ISBN: 0-9686493-3-5 Kumin, L. (2006)

This is an advice book to guide parents and educators in living What Did You Say? A Guide to the experience of welcoming a child with a disability in their Speech Intelligibility in People school community. It is written from the perspective of two in- with Down Syndrome [dvd] dividuals who live inclusion, teach best practices and love their Woodbine House jobs. This advice book is all about advocacy; working together to make a difference in a child’s life. It is about communication; ISBN: 1-890627-78-X caring to respectfully help others understand better what you ISBN 13: 978-1-890627-78-2 need from them. This book is about teaching; not just the kids but the adults in their lives. It is about best practices that evolve from innovative teaching and from allowing yourself to be the Do you worry that no one outside of your immediate family can student rather than the teacher. understand what your child says? This inspiring DVD, by one of the most respected speech-language pathologists (SLP) in

publications Book Review by Lily Reich the field of Down syndrome, looks at the importance of speech Teacher / Parent, Vancouver, BC, Canada intelligibility (understandable speech) and what makes clear speech challenging for people with Down syndrome. Dr. Libby “Learn it, Live it, Love it!” is the mantra of Authors Barbara Kumin explains in easy-to-understand terms the components Tien and Claire Clelland in the new book “Win-Win Advice for of speech that parents and SLPs should pay attention to, help- the Inclusive Classroom” (2006) published in partnership with ing them identify what a child or adult needs to work on in The PREP Program. speech therapy.

This book is choc-full of practical and effective strategies to help both parents and educators in their efforts to create suc- Rondal, J.A., Rasore-Quartino, A. cessful inclusion for people of differing abilities in the typical (2007) classroom. It is written in an easy-to-read manner, and each chapter has topic-related strategies highlighted in blue for Therapies and Rehabilitation quick reference. in Down Syndrome John Wiley & Sons The chapters on adapting programs, getting student atten- tion, and peer tutoring will be especially helpful to educators, ISBN: 0-470-06006-9 as many approaches from different sources are compiled in ISBN 13: 978-0-470-06006-3 short, clearly laid-out chapters that will take little time to read. Also, the strategies included in the book are applicable to many students, not just students with special needs. Therapies and Rehabilitation in Down Syndrome covers the entire lifespan of a Down syndrome patient, from infancy to 60 Although the entire book is a useful resource for parents, the years and beyond, focusing not simply on identifying problems, chapters on communication with professionals, preparing for but providing a detailed look at major therapeutic approaches. meetings, and talking to your child about Down syndrome are Discussion includes future genetic therapy, questions of qual- a must-read. ity of life, hormone and other therapies for medical problems, prevention and treatment of normal and pathological aging, Parents will definitely benefit from this book, as will educators. as well as psychomotoric rehabilitation. This is an important In fact, this book should be in every classroom where meeting book not only for scientists concerned with various facets of the individual needs of students is valued. Down syndrome, but practitioners looking for guidelines for therapies and clinical application of research findings. ◪

20 DOWN SYNDROME QUARTERLY • VOLUME 9 • ISSUE 2 • MAY 2007 INTERNATIONAL S E C T I O N This section provides an opportunity for people from around the world, developing projects or working to improve life for people with Down syndrome, to write about their experiences. Submissions need not comply with the research format of papers. Although some overseas correspondents have been identified, contributions are welcome from anyone with information to share.

World Down Syndrome Day – March 21, 2007

Down Syndrome International (DSI) has officially earmarked 21 March as World Down Syndrome Day (WDSD). The date was chosen to signify the uniqueness of Down syndrome in the triplication (trisomy) of the 21st chromosome which is used synonymously with Down syndrome.

Singapore was selected to launch the inaugural WDSD in 2006. The event, held at the CHIJ Secondary School in Toa Payoh, in the heart- lands of Singapore was very successful and well attended. Many other organisations worldwide joined in the celebrations with events and activities in their respective countries.

This year the theme for 21 March 2007 is “Celebrating Diversity”, to continue creating awareness about Down syndrome and promote acceptance of diversity. Congratulations to all those countries that participated in this 2nd Annual World Down Syndrome Day. 20 countries from around the world submitted details of individual events and initiatives, although many more countries may have also participated in various forms of recognition and awareness. Read on to learn how these countries celebrated World Down Syndrome Day.

Singapore United Kingdom March 21 was an action-packed day with a welcome speech by Carol Boys, followed by the Shout Project. Guest speakers included: Rose Mordi (Nigeria), Dr. Chris Conliffe (Northern Ireland) and Sahira Mansoor (Iraq). Singing Hands enter- tained the audience and was followed by the closing ceremo- nies featuring the Down 2 Earth Group. A Down Syndrome

International (DSI) Board meeting was held March 22. international Malaysia World Down Syndrome Day in Singapore was open to all peo- The Down Syndrome Association of Malaysia (Persatuan Syn- ple with Down syndrome, their families, friends and the gen- drome Down Malaysia) is the national organization concerned eral public. Activities included talks on “Understanding Down with the welfare of individuals with Down syndrome, and their Syndrome” and “Volunteerism”, games, storytelling sessions, families, from womb to tomb. They celebrated WDSD 2007 in dance performances, skits and an art exhibition by people with a manner meaningful to all Malaysian individuals with Down DS. The Singapore Down Syndrome Association also hosted syndrome (approximately 50,000), their families, care-givers an exhibition on DS from March 21–25. and service providers. Together with the Malaysian Social Welfare Department, Ministry of Women, Family and Commu- Israel nity Development, DSA-Malaysia organised the First National Israel celebrated WDSD with a variety of information sessions Seminar on Down syndrome on the 27th March, 2007. focusing on three main categories: “Needs and Services”, “The Life Circle” and “Aging with Down Syndrome”. Individual The theme of the National Seminar was “Down Syndrome: presentations on these topics included: A Parents’ Perspec- Paradigm Shift in Caring, Education and Vocational Perspec- tive, Residential Care, Education, Sleep Studies, Heart and tives”. Three hundred people attended, made up of parents, DS, Nursing, Aging and Physical Activity, Dental Care, and special education teachers, community-based rehabilitation Chronic Illness. centre officers, social welfare officers, care-givers and other service providers. The goal of this year’s celebration was to France/Europe create awareness on the need to view individuals with Down The European Symposium syndrome and their potential in a more positive manner. Once “Down Syndrome on the Move” given the opportunities in rehabilitation, education and training, held in Paris celebrated their life outcomes and quality of life shall be enhanced. “2007 – the European Year of Equal Opportunities”. A number of educational Mexico seminars followed highlighting Early “Jerome Lejeune” of the John Langdon Down Foundation, Therapeutics, School Integration and sponsored a conference for parents and professionals to com- Autonomous Life, Adulthood, the memorate WDSD. Also celebrated was the opening of the Art Present and Future of Therapeutics, Exhibit of the Mexican School of Down Syndrome at the Pal- and New Technology for Trisomy 21. ais Wilson in Geneva, Switzerland. The Exhibition displays 28 paintings by young artists with Down syndrome.

DOWN SYNDROME QUARTERLY • VOLUME 9 • ISSUE 2 • MAY 2007 21 W orld Down Syndr ome Day – Mar ch 21, 2007

Sweden Poland World Down Syndrome Day jedenswiat.org/foto/plakat.jpg

Kosovo Leonora & Driton Bajraktar, along with forty other parents of children with Down syndrome and several experts in the field, have taken the initiative to establish the Down Syndrome On the 21st of March, World Down Syndrome Day 2007 was Kosova Association. Although the Association was only just celebrated at Labanskolan, Uppsala, Sweden. Labanskolan is established, they were able to commemorate World Down a special school, working with drama and other aesthetic sub- Syndrome Day for the first time. Celebrations took place in jects. The students range in age from 6 to 19-years-old. Pristina, the capital city of Kosovo.

Every year the school puts on a show for public display. This India year we continued with last year’s smashing success: “Pippi Karnataka Longstockings in Present Time”. 2007 marks the 100th birth- In the city of Bangalore, Karnataka State, India, the Divya day of the late author Astrid Lindgren. All sixteen students Downs Development Trust runs a centre exclusively for chil- with Down syndrome participated in this colourful display of dren differently-abled due to Downs. The centre is four years sketches and singing and dancing numbers. A lot of effort was old and is presently assisting sixteen children and providing put into the make up, costumes, lights and sound — all to cre- the following programs: early intervention, physiotherapy, ate the best possible foundation for the actors’ work. speech therapy, dental care, vocational and skill training and basic academics. The local paper, Upsala Nya Tidning, wrote: “A remedy for autumn-depression: Go see the Labanskolan show!” Parents joined together and pooled some money to celebrate World Down Syndrome Day, including talks from experts on Saudi Arabia various developmental programmes, dance and skits by our The 2007 WDSD theme was “Celebrating Diversity”, to create kids, and a small party thereafter.

international awareness and promote acceptance of diversity. Jubail Down Syndrome Centre (JDSC) members and related organisations Maharashtra worldwide were encouraged to observe WDSD in their commu- WDSD was celebrated at the Indian Medical Association Hall, nities. JDSC celebrated at the Petrokemya Recreation Camp, Shalimar, Nashik, India. The day began with introductions, open to all people with DS and their families. www.jcds.org.sa. Lighting the Lamp, and a guest dance performance by the Rockbeat Group consisting of children five to ten years-of- age. Following this was an introductory speech, slide show, Germany parents speaking on their experiences, and the announce- ment of the formation of the “Indian Down Syndrome Associa- tion”. A panel of doctors with various focuses sat with parents in a question and answer session. Nepal In the week preceding WDSD, the Down Syndrome Associa- tion in Nepal got parents together and encouraged new par- ents to become members, highlighting the aim, functions and ongoing and future programs the Association. The German Down-Syndrome InfoCentre celebrated WDSD in Nürnberg. 220,000 special bookmarks were distributed in On WDSD itself, participants enjoyed a documentary on the bookshops and libraries. The bookmark, a small piece of art, Association, ceremonial lighting-of-the-lamp, several dance shows the painting of Austrian artist Christoph Eder. On March performances by children with DS, a solo music performance, 21 he won the “Golden Chromosome” award. The “Moritz”, a and a newly-wed young man with DS and a mother of a child bronze statue showing a child with DS, went to Wolfram Henn, with DS sharing their unique experiences. Informative sessions Professor Humangenetic and Ethic, University Saarland. included a general guideline for understanding DS, early symp- toms apparent in children with DS, the roles of society and gov- The organisation also celebrated with a do-it-yourself-poster ernment in inclusion, and rehabilitation of children with DS. campaign. Families sent a picture of their child to the DS-Cen- tre which was then placed in a layout along with the slogan for Portugal this special day: “Down Syndrome on the move!”. The digital WDSD was kicked off with the account of a personal experi- artwork was then sent to the families who printed the post- ence, followed by I Can Do It!, and highlights on a few perti- ers, starring their own child, and distributed them in their local nent issues regarding protection of assets and individuals with area! Nearly 500 posters were made! D.S. The floor was opened to questions from parents.

22 DOWN SYNDROME QUARTERLY • VOLUME 9 • ISSUE 2 • MAY 2007 World Down Syndrome Day – March 21, 2007

Oman Norway On WDSD, the focus was on people with Down syndrome reaching their potential with the goal of aiming high enough. Today we shall be seen, not overlooked – heard, not ignored.

People with DS are vibrant people – a natural part of soci- ety. They live good lives, make use of opportunities, and have goals, wishes and dreams like everyone else. Their ability to Oman celebrated WDSD this year with a fun event for the enjoy life is second to none. To honour the gift of life, one needs children at Marah Land (a theme park). The children went on to show one’s uniqueness, make use of one’s talents and to rides, played games, won prizes, had their faces painted and respect one’s qualities. We as parents are a little different too. Henna decoration. There was also a presentation, and a doc- Many of us have re-evaluated our lives – what’s important and umentary on Down syndrome to increase public awareness. what’s not. Many have had our lives turned upside down – in a positive manner. We’ve let go of old truths and found other, Canada new ideas, and an enrichment of life we’d never dreamed of. Down Syndrome Research Foundation’s (DSRF) mission is to maximize the ability of people with Down syndrome to lead Marte (24) with DS was recently portrayed in a TV documenta- independent lives and to participate in the community in which ry. Through her video diary, viewers were invited into her world, they live. This will be achieved through education, information to get a feel of how she perceives society. Via Interviews, Marte dissemination, research and clinical services. explored why some people view Down syndrome as a problem. She interviewed Norway’s Prime Minister Jens Stoltenberg, To bring awareness of WDSD to Canada, DSRF lobbied to whom she engaged in her battle towards an inclusive society. have the province of British Columbia issue a proclamation declaring that March 21 shall be known as “ World Down Syn- Hands — a poem by Brit Hundstad drome Day”. On behalf of the DSRF, thank you for celebrating the abilities of individuals with Down syndrome. www.dsrf.org Those delicate eyebrows I have never seen anything as beautiful The Netherlands When you sleep Stichting Down Syndroom (SDS) is very active in creating Smiling at me awareness in the Netherlands. There were a number of activi- ties around the country, including a disco for teens with DS in A unique, thin line that only you have

Gouda, and the third edition of the successful Get-a-Poster-of- But that I can recognize in some of your specific features international Your-Child campaign. Families e-mailed a digital picture of their That is no minus, but a plus... child to SDS which was then placed in a special layout with the slogan: ‘I can... May I?’. (In other words: does our society give Just like your hands individuals with Down syndrome the opportunity to develop and The roundness, the goodness unfold?) Families then print their posters, starring their own I can see it from afar child and distribute them in their area! www.downsyndroom.nl/ Know it in the seconds shows/posters%20wdsad%202007%20show/index.htm In a moment of movement

In 2007 the SDS will pay special attention to the situation of Those hands children with Down syndrome born in migrant families within There is another one our country. The development of these children lags behind Another one like you their average Dutch counterparts. The SDS has located as And I feel profound ties to everyone who’s got such hands... many families as possible with at least one parent from a cul- www.marihona.com ture outside the Netherlands. 21 of these families represent- ing 21 different nationalities have been interviewed for our South Africa journal, with some also on video. www.showdown.name Brazil

Down Syndrome South Africa (DSSA) is the national umbrella This year there were many achievements to celebrate, with a of ten regional associations in South Africa. As March 21st is lot of light coming to the subject. For eight months, one of our WDSD, (and Human Rights Day here in South Africa), we ‘cel- most popular TV soap operas, Paginas da Vida (Pages of Life) ebrated diversity’ throughout the country and with the rest of featured Joana Mocarzel, a girl with DS, as one of the main the world. Different activities took place during the week 17th characters. Over 60 million people in Brazil followed the story, – 25th March 2007 from fashion shows (by children with DS), which was also shown in Portugal with other countries to fol- high teas, breakfasts, picnics, talks on DS, sports activities such low. Clarinha, Joanas character, became the nation’s darling. as cricket matches and cycle races, etc. Because of our recent A series of dolls with Down syndrome characteristics will be press release, we have had many phone calls and hits on our officially launched on March 21st. As a result, awareness and website, resulting in newspaper and magazines articles as well the self-esteem of people with DS has been enhanced. as interviews on various radio and television stations. ◪

DOWN SYNDROME QUARTERLY • VOLUME 9 • ISSUE 2 • MAY 2007 23 Signing of the UN Convention on the Rights of Persons with Disabilities

Down Syndrome International (DSI) Board members, Profes- sor Dan Weeks from Canada and Penny Robertson from In- donesia (shown right) travelled to New York to witness the signing of the UN Convention on the Rights of Persons with Disabilities on 30th March, 2007.

The convention is a blueprint to end discrimination and exclu- sion of people with disabilities in education, jobs, and every- day life. It requires countries to guarantee freedom from ex- ploitation and abuse for the disabled, while protecting rights they already have. It is particularly encouraging that the role of families in the care of the disabled has been acknowledged by the convention.

Eighty countries signed the United Nations convention en- shrining the rights of the world’s 650 million people with disa- communities rather than removing them and educating them bility in what the UN Human Rights High Commissioner called separately which is still the practice in many countries. an unprecedented show of support to empower the physically and mentally impaired. The UN General Assembly adopted the 32-page convention by consensus in December, culminating a campaign spear- UN High Commissioner for Human Rights, Louise Arbour an- headed by disability rights activists and the governments of nounced the huge level of support at a news conference after New Zealand, Ecuador and Mexico. the signing ceremony: “It’s certainly unprecedented in terms of support for a human rights instrument, but it’s apparently “We would not be here today without the sustained efforts of

international setting records for the signature of any convention in the Unit- the disability community,” Deputy Secretary-General Asha- ed Nations,” she said. Rose Migiro said at Friday’s ceremony. “In three short years, the convention went from dream to reality,” she said. “On its DSI Board member and Treasurer, Penny Robertson said “I adoption by the General Assembly late last year, it became found it very exciting to witness the signing of this convention. the first human rights treaty of the 21st century, and the fastest It was an historic event which none of us would have thought negotiated international human rights instrument in history.” possible even 5 years ago. After 25 years of fighting for the right of people with disabilities to have access to education, High Commissioner Louise Arbour said “it’s very appropriate health facilities, employment and community programs, it is that the first treaty of the new century targets a community very heartening to see the UN take up the cause and to see that has been so marginalized for so long” and that it focuses so many countries supporting it. It was interesting to listen to on rights and not just social welfare and programs to meet the the perspectives of many of the countries which signed the needs of the disabled. She called the convention “a first step” convention during the high level dialogue which followed the in empowering the disabled, stressing that once it comes into signing ceremony; and I was extremely encouraged to wit- force governments will have to enact legislation and change ness their commitment to the ratification and implementation practices to ensure the rights of the disabled are upheld. of the Convention.” Yannis Vardakastanis, representing the International Disability The United Nations held a ceremony on the first day the con- Caucus which was in the forefront of the campaign for the con- vention opened for signatures, and not only did 80 countries vention, congratulated the 80 countries that signed “this unprec- and a representative of the European Union sign it , but Ja- edented convention.” He said it represents “a very drastic” shift maica announced that it had also ratified the convention. That in the way the international community looks at disabilities. means only 19 more ratifications are needed before the con- vention comes into force, and speaker after speaker urged “The 650 million persons with disabilities around the world ex- speedy ratification by countries which had not yet signed. pect and anticipate that this convention will change the real living conditions, that this convention will take away the discrimination, In addition to guaranteeing that the disabled have the inher- the exclusion, and all the obstacles that people with disabilities ent right to life on an equal basis with the able-bodied, the are faced with in their daily lives,” Vardakastanis said. Convention also requires countries to prohibit discrimination on the basis of disability and to guarantee equal legal protec- According to the latest UN figures, about 10 percent of the tion for all and signatory countries must ensure the equal right world’s population, or 650 million people, live with a disability of the disabled to own and inherit property, to control their and the number is increasing with population growth. The dis- financial affairs, and to enjoy privacy in their personal lives. abled constitute the world’s largest minority, and 80 percent The Convention also advocates keeping the disabled in their live in developing countries, many in poverty. ◪

24 DOWN SYNDROME QUARTERLY • VOLUME 9 • ISSUE 2 • MAY 2007 DOWN SYNDROME INTERNATIONAL We will keep you informed about the plans and actions being carried out on your behalf by the DSI Board. Comments, suggestions or views on the content of this section are welcomed. Please identify comments with “DSI Section” and submit using the same method as other section submissions.

Down Syndrome International — Strategic Plan 2007 to 2009

Josephine Mills, M.S.M., O.B.C. President, Down Syndrome International

The mandate of Down Syndrome International is to improve International Collaboration: DSI Link with IASSID the lives of people with Down syndrome. An agreement of mutual understanding and support has been signed between Down Syndrome International and the In- 1. To help and support people with Down syndrome through- ternational Association for the Scientific Study of Intellectual out the world to realise their potential and achieve a better Disability (IASSID) following input and study by the Boards of quality of life. both associations. The agreement provides for co-operation between the two organisations with the understanding that ei- 2. To help and support families, professionals and organisa- ther organisation can raise issues to change or improve the tions involved in the care and support of people with Down agreement. The agreement is reciprocal and supportive and syndrome throughout the world. allows members of both organisations to share information, to attend their international meetings at member rates, and 3. To advance the scientific understanding of Down syndrome gives member access to Journals at same member rates. It throughout the world. also provides opportunities, through invitation, for senior rep- resentatives or their appointees to attend meetings of each 4. To disseminate accurate information about Down syndrome other’s organisation, which will facilitate joint planning around throughout the world. international events such as conferences. IASSID and DSI are jointly developing a special interest research group (SIRG) in The work of Down Syndrome International (DSI) is sustained Down syndrome, which would compliment the SIRGs it al- by a Board which includes members from across the globe. ready sponsors. It is hoped that DSI will participate in this SIRG, thus furthering scientific development. It is through The World Congress such developments we anticipate that the study and support The World Congress, held every three to four years, is one of for people with Down syndrome and their families will be en- the major achievements of the international movement. The hanced. The Board of DSI would like to record their thanks to international down syndrome international movement began more than 20 years ago in Professor Roy Brown for liaising successfully with IASSID on Mexico and is now Down Syndrome International. behalf of DSI.

World Down Syndrome Day (WDSD) Membership In February 2005, the Board agreed to work with the European The current membership of DSI represents individuals and Down Syndrome Association (EDSA) to establish 21st March organizations from more than 40 countries around the world, (3/21) as World Down Syndrome Day (WDSD) to promote including Latin America, North America, South Africa, the Mid- awareness of the achievements, rights and needs of individu- dle East, Asia-Pacific, and Europe. While the Board welcomes als with Down syndrome. The first WDSD was held on 21st this broad membership, it is seeking to get members from all March 2006 and was an even greater success than anticipated countries and to find ways to support, in particular, member- with over 40 countries staging an event. DSA Singapore set up ship of organizations and individuals in the less developed a website at: www.worlddownsyndromeday.org. countries. The Board welcomes ideas on how to achieve this.

Down Syndrome Quarterly Funding Down Syndrome Research Foundation is now publishing the At present, the activities of DSI are limited by lack of resourc- Down Syndrome Quarterly (DSQ), effective Summer 2006. An es. All the work of DSI is done by volunteers and income is established journal, the DSQ will be the official publication of from membership fees and donations. Plans are under way DSI, and will be distributed to all members and carry informa- for major funding proposals to assist the work of DSI. tion on DSI activities.

DOWN SYNDROME QUARTERLY • VOLUME 9 • ISSUE 2 • MAY 2007 25 Down Syndrome International — Strategic Plan 2007–2009

Down Syndrome International Board and Officers The Board is elected at World Down Syndrome Congresses. The Board elects its Officers and has agreed that the offices of President and Vice-President are held by the Board member Down Syndrome International’s representing the organisation which has hosted the last World Board of Directors Congress and the Board member representing the organisa- tion hosting the next World Congress, respectively. This has considerable benefits for DSI. The hosts for the World Con- gress will have made many contacts with the international invite proposals to host the community and can continue to use the expertise they have developed while hosting the Congress to further DSI aims. The President will be in a position to provide expertise and 2012 advice to the hosts of the next World Congress and the Vice- President will have the opportunity of a lead-in period to be- World Down Syndrome Congress coming President. These positions will be held for the three to four year period between Congresses. Your organization is invited to submit a written proposal International and Human Rights Issues either by electronic or regular mail to: Vanessa dos Santos, South Africa, has led on proposals for DSI to become more active on a number of issues includ- DSI Secretariat ing human rights and discrimination affecting individuals with Down syndrome. Her focus is on quality of life for individuals Down Syndrome Association and families and increased support for the issues affecting ru- Langdon Down Centre ral areas and developing countries. DSI is looking to develop 2A Langdon Park, Teddington, Middlesex position statements on our website on human rights issues. TW11 9PS England

DSI Conference Endorsement The Board endorses a number of regional conferences which take place between World Down Syndrome Congresses. The Questions? Board’s endorsement of these conferences enables organizers Please email [email protected] to use the DSI logo on their publicity. This results in a two-way benefit — DSI is seen to be active around the world through its support of these meetings, and the conference benefits from the credibility gained from the DSI endorsement. Deadline for Letters of Intent: September 1st, 2007 The Board has agreed that requirements for DSI endorsement Full proposals requested by March 1st 2008 should be established as follows:

1. Following a conference, a report must be submitted to DSI

down syndrome international down syndrome containing conference outcomes including: the number of This most prestigious event in the world of delegates attending; copies of abstracts, papers or pub- Down syndrome brings together people from around the lications; and information on any research collaborations world with Down syndrome, their families, educators, that result from the conference. health professionals and researchers to share ideas, the latest information and learn from each other. 2. Conference organizers are expected to collect feedback from delegates on evaluation forms.

3. Terminology guidelines should be provided to speakers to Information and statistics have been kept from previous avoid the use of offensive and outdated terminology. World Congresses to assist planners.

Hosting a Congress The Board would like to point out that all the work and the financial risk for the World Down Syndrome Congress is as- sumed by the organising group in the host country. At present, DSI is not able to provide any financial or practical backing. The Congresses serve a very important function as they bring together delegates from all corners of the world to exchange Correction experience. This informal exchange and friendships made In the February Issue of the Down Syndrome Quarterly, plays a role as important as the formal programme content. Delegates return with new ideas, with renewed energy to work Sukhvinder S. Obhi was listed only as Corresponding for people with Down syndrome and their families in their own Author, and in fact is also lead author for the paper countries, and with new friendships. ◪ “The Perceived Time of Voluntary Action for Adults With and Without Down Syndrome”.

26 DOWN SYNDROME QUARTERLY • VOLUME 9 • ISSUE 2 • MAY 2007 Submitting a Paper to DOWN SYNDROME QUARTERLY

DSQ will publish papers that advance the understanding of Down syndrome in all areas of science, education, health care and practice. Articles must be comprehensible to a broad audience, including researchers, practitioners, and families of children with Down syndrome.

Three categories will be considered for publication:

1. Research Articles reporting original clinical, educational, psychological, or basic science findings and contributing to the international literature in their respective disciplines. Manuscripts should contain a clearly written abstract, including background, methods, results and interpretation (summarized in tabular format where possible), and discussion concerning application of the findings as they apply to Down syndrome. Suggested length is 2500 words, excluding the abstract, figures, tables and references.

2. Practice Articles directed at practising clinicians and educators. These may include case reports on teachings, brief educational reviews of a focused problem, or short descriptions of innovative programs and preliminary findings. Suggested length is 2500 words.

3. Review Scholarly evidence-based reviews of topics relevant to practice. Systematic reviews should attempt to answer a focused question. Suggested length is 2500 words, excluding abstract, tables, figures and references.

Narrative reviews provide readers with a synthesis of the existing literature in a particular field and are prepared by experts with a comprehensive understanding of the research area. Authors should discuss the application of existing evidence to practice. Suggested length is 3000 words, excluding abstracts, tables, figures and references.

Manuscripts should be prepared either according to the standards set out by the International Committee of Medical Journal Editors, found in the Uniform Requirements for Manuscripts Submitted to Biomedical Journals: Writing and Editing for Biomedical Publication, or according to the format specified in the Publication Manual of the American Psychological Association (5th Ed. 2001). All information regarding ethical considerations and manuscript preparation and submission

can be found at the ICMJE Web site: http://www.icmje.org/ or at the APA Web site: http://www.apa.org/. quarterly submissions down syndrome

Manuscripts should be submitted with a cover letter, to the Editor in Chief, Josephine Mills. Email submission is preferred, and most word processor file formats can be supported, though MS Word is preferred. Diagrams should be submitted as ‘vector graphic’ file formats (e.g. eps, wmf, etc...). If submitting by mail, please include 3 good quality copies. An electronic copy of the final version of manuscripts accepted for publication will be required.

Submissions should be addressed to:

Josephine Mills, M.S.M. Managing Editor Down Syndrome Quarterly 1409 Sperling Avenue Burnaby, BC Canada V5B 4J8

email: [email protected]

DOWN SYNDROME QUARTERLY • VOLUME 9 • ISSUE 2 • MAY 2007 27 Down Syndrome Research Foundation 1409 Sperling Avenue Burnaby, BC Canada V5B 4J8

28 DOWN SYNDROME QUARTERLY • VOLUME 9 • ISSUE 2 • MAY 2007