The Gathered View National Newsletter of the Prader-Willi Syndrome Association (USA) Join Rob Nicholls as he rides for PWSA (USA) and the fight against childhood obesity! One man, one bike, Why? one ride across the Rob’s goal is to raise funds and awareness for PWS. As a leading country for a cure – researcher who has focused on PWS since 1987, Rob will use the funds raised Rob Nicholls, Ph.D., a researcher from the ride to administer cutting-edge at The Children’s Hospital of Pittsburgh research for PWS. who is Director of the Birth Defects The bike route will be along the How to get involved Laboratories, has decided to take on southern part of the United States, Needs include: Prader-Willi syndrome and childhood but we encourage everyone across • Volunteers For Event Committees obesity in a unique and interesting the country to join us as we increase • Help Fundraising Online at fashion. In the name of research, Rob awareness of Prader-Willi syndrome. (https://www.firstgiving.com/pwsausa/ Nicholls will be putting both his life and You can follow Rob’s journey robs-ride-for-research) physical endurance to the test. at www.robsrideforresearch.com. We • Make a donation for Rob’s Ride Starting in San Diego, California will continually update the website with and leave him a personal message of and finishing in Orlando, Florida more information on Rob, his research, encouragement (Donations can be at the Prader-Willi Syndrome the Ride, sponsorship opportunities, and mailed to PWSA (USA) or submitted Association (USA)’s National our progress as we meet our fundraising online at https://www.firstgiving.com/ Conference (www.pwsausa.conference. goals! Page/2700855/Donation.) com), Rob will bicycle over 3,000 miles COME TO THE NATIONAL • Raise awareness of Rob’s Ride, through desert, mountains, forest, and CONFERENCE IN ORLANDO TO spread the word! tropics in less than one month, enduring HELP WELCOME ROB AT HIS • Financial Sponsors all the challenges along the way. RIDE’S END! • Event Organizers • In-Kind Contributors Did you Know? For more info on how to get involved contact Beth Bush at 941-312- … that if your child was diagnosed with the ■ maternal uniparental disomy (UPD) type of PWS, 0400 or [email protected]. it is thanks to Dr. Rob Nicholls? Vick Did you Know? … that this discovery by Dr. Nicholls and his In this Issue ?fellow researchers was a major breakthrough in the field International Conference Research .....2 of genetics by showing for the first time that there was Balloon Launch ...................................5 genetic imprinting in humans (meaning that some of New PWS Inpatient Program .............9 our genes have to come from a particular parent to work Dental...........................................10-11 normally)? We Remember – Marge Wett ...........13 Volume 38, Number 5 ~ September-October 2013 ~ Our 38th Year of Publication The Gathered View ~ Prader-Willi Syndrome Association (USA) September-October 2013 1 Medical and Research View ■ Spinal deformities are probably underreported with PWS. Report on the The PWSA (USA) medical database statistics were given on various scoliosis issues. Every delay of a month starting International Conference growth hormone increases the risks of future surgery by in Cambridge July 2013 .7%. (Harold van Bosse, USA) ■ 80% By Janalee Heinemann, M.S.W. In a Texas Children’s Hospital study of 145 children, PWSA (USA) Director Of Research & Medical Affairs of the births were C-section. There was no difference IPWSO’s Eighth International Prader-Willi Syndrome in the rate of cesarean deliveries between deletion and Organisation Conference was hosted by the PWSA-UK in uniparental disomy (UPD). There was a trend toward Cambridge. There were 33 countries represented, attending the lower BMI in PWS with breast milk exposure during the scientific conference, the provider conference (with 23 countries neonatal period. (Ann Scheimann, USA) ■ pregnancy and PWS represented), the general conference, and a program for people Regarding , there was a report on with PWS. The PWSA – UK did an outstanding job of hosting four documented pregnancies of women who have PWS. this very complex group of events, including a wonderful Looking for common features, other than significant celebration supper with Ceilidh Scottish dancing. weight loss prior to the pregnancy in three of the four PWSA (USA) was well represented, with 10 professionals women, there were no predictive factors that were evident. presenting at the conference. There were 37 scientific It is possible that fertility in a few women just reflects presenters and workshops on genetics, endocrine, and mental variability in hypogonadism and absence of opportunity in health issues. There were also an amazing 80 scientific poster others who are potentially fertile. (Suzanne Cassidy, USA) ■ presentations! We do not have the space here to give you The conclusion of an Italian study further confirms that long-term growth hormone treatment in adults anywhere near the outcome of all of these presentations and with posters, so I will just touch on a few interesting facts and/ PWS significantly improves body composition, muscle size or outcomes. The 8th International Conference Abstract/ and quality, and increases muscle strength and exercise Programme book, along with some of the presentations, is tolerance. (Graziano Grugni, Italy) ■ now available on the following website: http://www.pwsa. The findings in this study in Japan were consistent with co.uk/index.php/list-all-categories/79-slider/310-international- previous research that was done on mainly Caucasian conference-2013-abstracts-and-presentations. patients indicating that in adolescence m-UPD patients were more prone to ADHD and autistic symptomatology ■ In the 1980s the average age of diagnosis in the USA than deletion patients, but there was no difference in for PWS was 8-12 years of age. Now it is less than two younger children. (Hiroshi Ihara, Japan) months. (Dan Driscoll, USA). In the recent Victoria ■ In assessing behavioral changes with age in PWS, Registry, the mean age at diagnosis in 1993 was 14 years of it was found that skin picking was more common in age, and in 2012 it was 3.5 weeks of age. They report that adolescence than in children, but less common in older the estimated birth prevalence was 1:14,000. (Tess Lionti, adults compared to younger adults. Preference for routine, Australia) restricted interests /obsessions, repetitive language, ■ The trial of oxytocin spray use for PWS in a study from impulsivity, physical activity level and positive mood were the University of Sydney did not shown improvement in reduced as individuals got older. In general, many problem the food drive, behavior, or picking. (Ellie Smith, Australia) behaviors decreased in older adults with PWS. (Leah Bull, These results are in conflict with the positive results of the UK) France study by Dr. Maite Tauber ■ In another study on clinical neuropsychiatric diagnosis ■ An eight year study on growth hormone treatment among adults with PWS living in residential homes in (GHT) demonstrated that GHT is a potent force for Oconomowoc, WI, it was reported that there were similar counteracting the clinical course of obesity in children with findings in that the younger age group of individuals PWS. (Nienke Bakker, The Netherlands) with PWS were more severely affected regarding ■ The results of a study on anesthesia were similar to neuropsychiatric diagnoses, but depression and anxiety what we have reported regarding potential complications were more prevalent in the older group. (Nicolette which include a narrow oropharyngeal airway, prolonged/ Weisensel, USA) exaggerated response to anesthesia, difficult IV ■ Prenatal PWS diagnosis, a diagnosis before birth, is access, dental issues, behavior issues, and an abnormal known in only nine cases worldwide. Due to this study, physiological response to hypopnea. (Graziano Grugni, they recommend considering prenatal genetic screening Italy) by methylation test for PWS when any combination of continued on page 3 2 September-October 2013 The Gathered View ~ Prader-Willi Syndrome Association (USA) Medical and Research View Conference, continued from page 2 International General Assembly Meeting ■ Dr. Suzanne Cassidy, (PWSA (USA) Scientific Advisory Board member) was voted in for a term of three more years as IPWSO president Mary K. Ziccardi, Suzanne Cassidy, Janalee Heinemann, and Hubert Soyer from Germany as Mary ■ Janalee Heinemann K. and Hubert received recognition plaques for their work in co-chairing the international professional (PWSA (USA) Director provider conference. of Research & Medical Affairs) was voted in for a intra-uterine growth retardation associated with an increased risk of term of three more years as (a smaller fetus than expected ) or sleep apnea.(S. Farholt, Sweden) IPWSO vice-president ■ asymmetric intra-uterine growth, A study further confirmed that ■ Three new board members polyhydramnios (an excess of psychotic illness is more prevalent were voted in: amniotic fluid ) and diminished fetal among those with PWS who - Marguerite Hughes – movement is present -- particularly have genetic subtypes of mUPD Ireland (PWS parent) when asymmetrical intrauterine compared to those with the deletion. - Mariona Nadal Farre – growth and polyhydramnios coexist. (CG Waltman, The Netherlands) Spain (PWS sibling) ■ (Noa Gross, Israel) Serial body cast application is a - Dr. June-Anne Gold – ■ In investigating the brain useful treatment option in young California,