Dual Diagnosis in 22q13 Deletion Syndrome
Running head: DUAL DIAGNOSIS IN 22q13 DELETION SYNDROME
Dual Diagnosis in Individuals with 22q13 Deletion Syndrome
Akanksha A. Sharma
Department of Educational and Counselling Psychology
McGill University, Montreal
Masters of Arts in Educational Psychology
August 2009
A thesis submitted to McGill University in partial fulfillment of the requirements of the
degree of a Masters of Arts in Educational Psychology (Concentration in School and
Applied Child Psychology)
© Akanksha A. Sharma (2009)
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Dual Diagnosis in 22q13 Deletion Syndrome
Abstract
Dual Diagnosis, the co occurrence of intellectual disability and psychopathology, was evaluated in 31 individuals with 22q13 deletion syndrome. Parents filled out the Reiss Scales for
Children’s Dual Diagnosis, The Vineland Adaptive Behavior Scales, and the Family Quality of
Life Survey in order to describe the mental health, adaptive functioning and family quality of life of the subjects. Six subjects (19.35%) met the criteria for dual diagnosis, three had significant attention problems and another four had significant withdrawn Behavior. Dual Diagnosis was associated with overall mental health, attention problems, withdrawn behavior, autistic symptoms, anger/self control problems and social skills. Psychotic and attention deficit symptoms were the most frequent symptoms among the Reiss scales. Psychosis was not associated with overall mental health or dual diagnosis; however, it significantly correlated with family interaction, parenting, emotional well being and quality of life. Maladaptive behavior was marked by a significant increase in externalizing behaviors with age.
i Dual Diagnosis in 22q13 Deletion Syndrome
Résumé
Le double diagnostic, la cooccurrence d’une incapacité intellectuelle et psychopathologique, fut évalué avec 31 individus souffrant du syndrome de délétion 22q13. Les parents ont passé le test des échelles de Reiss pour le double diagnostic des enfants, Le Vineland
Adaptive Behavior Scales, et le sondage sur la qualité de vie familiale de manière à décrire la santé mentale, le fonctionnement adaptif et la qualité de vie familiale des sujets. six sujets
(19.35%) ont rempli le critère du double diagnostic, trois souffraient de problèmes d’attention significatifs et quatre autres individus souffraient d’un comportement de retrait significatif. Le double diagnostic fut associé avec la santé mentale générale, les problèmes d’attention, le comportement de retrait, des symptômes autistiques, des problèmes de colères ou de contrôle de soi et les habiletés sociales. Les syndromes psychotiques ou de déficits d’attention furent les plus fréquents dans les échelles de Reiss. La psychose ne fut pas associée avec la santé mentale générale ou le double diagnostic; cependant on observa une corrélation significative avec l’interaction familiale, le parentage, le bien être émotionnel et la qualité de vie. Les comportements mésadaptés furent marqués par une augmentation significative de l’externalisation des comportements avec l’âge.
ii Dual Diagnosis in 22q13 Deletion Syndrome
ACKNOWLEDGEMENTS
I would like to express my heartfelt gratitude to my supervisor, Dr. Steven Shaw for his support, guidance and encouragement over the past two years. Thank you for providing me with the opportunities and the tools to grow and achieve, and for allowing me the independence to carry out my thesis in my own way while supporting me whenever I needed the help. I would also like to thank Jennifer Bruce for being a wonderful support, critic and friend throughout the past two years and for always providing constructive feedback when I required it. I am also grateful to Amira Rahman for helping me with the recruitment of additional participants, for giving me useful pointers, and for her kind words.
The success of this thesis, much like my survival through the natural selection process of academia, is highly attributable to my wonderful parents. I thank my father for believing in me, for ensuring that I am not troubled by financial concerns, for investing immense concern and emotion into my academic success, and for always being there. I thank my mother for her undying love and support, for her constant reminders about all my deadlines, for her endless patience with all my thesis and non thesis related complaints and for being my pillar of strength.
I would also like to thank my wonderful friends and loved ones for helping me transition into and adjust with my life in Montreal and my sister for giving me a home to visit whenever I needed family.
iii Dual Diagnosis in 22q13 Deletion Syndrome
TABLE OF CONTENTS
ABSTRACT…………………………………………………………………………………....i
RESUMÉ……………………………………………………………………………………....ii
ACKNOWLEDGEMENTS…………………………………………………………………...iii
LIST OF TABLES…………………………………………………………………………….vii
CLAIMS TO ORIGINALITY…………………………………………………………………viii
CHAPTER 1…………………………………………………………………………………….1
Introduction……………………………………………………………………………………..1
CHAPTER II……………………………………………………………………………………4
Review of Literature…………………………………………………………………………….4
Dual Diagnosis…………………………………………………………………………..4
History of Dual Diagnosis……………………………………………………….4
Prevalence Studies about Dual Diagnosis……………………………………….5
Challenging Behavior and Dual Diagnosis……………………………………...9
Issues in Dual Diagnosis………………………………………………………..12
Risk Factors Associated with Dual Diagnosis………………………………….13
22q13 Deletion Syndrome………………………………………………………………17
Genetic Vulnerabilities to specific psychopathologies in 22q13……………….17
The Psychological Profile of 22q13…………………………………………….20
Conclusion………………………………………………………………………………22
Rationale for Current Study…………………………………………………………….22
Objective of Current Study……………………………………………………………..24
CHAPTER III…………………………………………………………………………………..25
iv Dual Diagnosis in 22q13 Deletion Syndrome
Method…………………………………………………………………………………………..25
Participants………………………………………………………………………………25
Recruitment……………………………………………………………………………………...…26
Measures…………………………………………………………………………………………...26
The Family Quality of Life Survey…………………………………………….....27
The Reiss Scales for Children’s Dual Diagnosis………….……………………..28
The Vineland Adaptive Behavior Scales…………………………………………29
Procedure………………………………………………………………………………..30
Data Analyses……………………………………………………………………………31
CHAPTER IV……………………………………………………………………………………32
Results……………………………………………………………………………………………32
Age & Sibling Effects…………………………………………………………………….32
The Family Quality of Life Survey……………….………………………………………...33
The Reiss Scales for Children’s Dual Diagnosis….……………………………………..35
The Vineland Adaptive Behavior Scale...………………………………………………..39
Relation between Family, Adaptive and Mental Health Variables………………...……42
CHAPTER V ……………………………………………………………………………………46
Discussion………………………………………………………………………………………..46
Mental Health Profile of 22q13………………………………………………………….46
Prevalence and nature of Dual Diagnosis……………………………………………….48
Additional Findings……………………………………………………………………...50
.Clinical Implications…………………………………………………………………….51
Limitations……………………………………………………………………………….52
v Dual Diagnosis in 22q13 Deletion Syndrome
Directions for Future Research………………………………………………………….53
Conclusion……………………………………………………………………………….55
References……………………………………………………………………………………….57
APPENDIX A: Consent forms for Parents: Biennial Conference…….…………………………71
APPENDIX B: Consent forms for Parents: Post conference……………………………...... 73
APPENDIX C: Demographic Questionnaire…………………………………………………….75
APPENDIX D: Family Quality of Life Survey …………………………………………………78
vi Dual Diagnosis in 22q13 Deletion Syndrome
LIST OF TABLES
Table 1: Mean Values of Continuous Variables…………………………………………………25
Table 2: Demographic Variables: Frequency Table……………………………………………..25
Table 3: Age Effect: Correlation with Family Variables………………………………………...32
Table 4: Age Effect: Correlation with Adaptive Functioning Variables………………………...32
Table 5: Means and Standard Deviations for FQOL Scores…………………………………….34
Table 6: Inter correlations of FQOL Scales……………………………………………………..34
Table 7: Means and Standard Deviations for Reiss Scores……………………………………...36
Table 8: Inter correlations of Reiss Scales……………………………………………………....37
Table 9: Group Means and Standard Deviations for Reiss Subscales based on
Autism Diagnosis...... 38
Table 10: Group Means and Standard Deviations for Reiss Subscales based on
Dual Diagnosis…………………………………………………………………………...38
Table 11: Means and Standard Deviations for Vineland Scores………………………………...40
Table 12: Inter Correlations of Vineland Domains & Indexes…………………………….…….41
Table 13: Group Means and Standard Deviations for Vineland Domains based on
Medication Status………………………………………………………………………...41
Table 14: Correlations between Family & Adaptive Functioning Variables……………………43
Table 15: Correlations between Family & Mental Health Variables…………………………....44
Table 16: Correlation between Mental Health & Adaptive Functioning Variables……………..44
vii Dual Diagnosis in 22q13 Deletion Syndrome
CLAIMS TO ORIGINALITY
This study aims to determine the prevalence of dual diagnosis in the 22q13 population, describe the nature of dual diagnosis and help develop a psychological profile of the population.
While previous studies have examined developmental milestones, Intellectual functioning, and specific problem behaviours such as Autism and ADHD in individuals with 22q13; a systematic examination of all the various psychopathologies and problem behaviours has not been conducted. This study is also the first to determine the prevalence of dual diagnosis in the 22q13 population. Also, it is the first to study the relationship between environmental factors, adaptive functioning and psychological symptoms in the population.
viii Dual Diagnosis in 22q13 Deletion Syndrome 1
CHAPTER I
Introduction
Intellectual disability (ID) is a complex manifestation of a heterogeneous set of impairments and conditions that result in cognitive limitation (McDermott, Durking, Schupf &
Stein, 2007). It has medical, educational and social implications that influence how people treat those with intellectual disabilities differently. For example, medical professionals consider the etiology of the intellectual disability important, while educators are more interested in interventions, and members of society conceive of intellectual disability in terms of adaptive functioning (McDermott, Durking, Schupf & Stein, 2007). The current definition of intellectual disabilities according to the American Association of Intellectual and Developmental Disabilities
(AAIDD) describes ID as “a disability characterized by significant limitations both in intellectual functioning and in adaptive behavior, which covers many everyday social and practical skills.
This disability originates before the age of 18” (Schalock, Luckasson & Shogren, 2007, pg 116).
The AAIDD classification also recognizes IQ, when measured using appropriate instruments, to best represent intellectual functioning. The primary criterion for intellectual disability requires an individual’s IQ to be two or more standard deviations below the mean (Wehmeyer et al., 2008).
Based on IQ, ID is classified as being mild ID for IQs ranging from 55 to69, moderate for scores between 40 to54, severe ID for scores between 25 to 39 or profound intellectual disability for an
IQ below 25. Specifications are also made about whether the individual requires intermittent, limited, extensive or pervasive support. In addition, adaptive behavior is a complementary component of the definition and represents a set of social and practical skills that have been learned by people in order to function independently (McDermott, Durking, Schupf & Stein,
2007). Adaptive functioning is typically assessed using measures such as the Vineland Adaptive
Dual Diagnosis in 22q13 Deletion Syndrome 2
Behavior Scale (VABS), which contains scales examining communication, daily living, socializing and motor skills in order to determine an individual’s level of functional independence (Sparrow, Cicchetti & Balla, 2005). Therefore, there are many factors that need to be considered in the study of intellectual disability.
Dual Diagnosis
Dual diagnosis is defined as the co occurrence of intellectual disability and psychopathology (Matson & Sevin, 1994). The prevalence of mental health problems for persons with intellectual disabilities dual diagnosis is much higher than for the general population
(Ballinger 1997; Berry & Gaedt 1995; Bongiorno 1996; Borthwick Duffy 1994;Campbell &
Malone 1991; Chaplin 2004 Demb et al. 1994; Jopp & Keys 2001; Menolascino & Fleisher
1991; Moss 2001; Vitiello & Behar 1992; ). People with intellectual disabilities seem to be vulnerable to most if not all mental health disorders as defined by the major classification systems like the DSM or ICD (Borthwick Duffy, 1994; Borthwick Duffy & Eyman, 1990; Chess
& Hassibi, 1970; Jacobson, 1990; Reiss, 1994; Rutter, Tizard, Yule, Graham, Whitmore, 1970; ).
In addition to psychopathology, individuals with intellectual disability are also prone to developing problematic and challenging behaviors such as self injury, aggression, stereotypic behavior and destruction of property (Jacobson, 1982). The relationship between challenging behaviors and psychopathology is still unclear (Rojahn, Borthwick Duffy, Jacobson, 1993).
However, both psychological symptoms and maladaptive behaviors are currently included in common assessment measures of dual diagnosis such as the Psychological Inventory for Mental
Retardation in Adults (PIMRA), the Aberrant Behavior Checklist (ABC), the Psychiatric
Assessments Schedule for Adults with Developmental Disabilities (PASS ADD) and the Reiss
Screen for Maladaptive Behaviors (Matson, 2007).
Dual Diagnosis in 22q13 Deletion Syndrome 3
Phelan McDermid (22q13) Syndrome
Phelan at el. (2001) describe 22q13 microdeletion syndrome, also known as Phelan
McDermid Syndrome (PMS), to be a syndrome resulting from distal deletions on the long arm of the 22nd chromosome (22q.13.3). The identification of 22q13 has only been made possible within the last decade by advanced molecular techniques such as the Fluorescent in situ Hybridization
(FISH) test. Due to the recent identification of the syndrome, there are only approximately 400 known cases of 22q13 around the world. Although the size of deletions among individuals with
22q13 may vary greatly, one of the key players in explaining the neurological symptoms is the
SHANK3gene. There is evidence that the 22q13 deletion results in a haploinsufficiency of the
SHANK3 gene, which codes for a structural protein of the postsynaptic density and thus causes the neurological symptoms of the 22q13 deletion syndrome (Wilson, Wang, Shaw, Tse,
Stapleton, Phelan, et al.,2007). This syndrome is associated with developmental delay, generalized hypotonia, delayed or absent speech normal and advanced growth. In terms of physical features, dolichocephaly, abnormal ears, ptosis, dysplastic toenails and relatively large hands entail certain minor anomalies associated with the disorder (Phelan at el., 2001). The authors also note in their study that most of the children had moderate to profound intellectual disabilities. Also, these children have severely delayed or absent speech which reflects lower than detectable verbal IQ scores in many cases. The psychological profile of the 22q13 population has not been studied exclusively. However, previous studies of the population examining specific symptoms such as autistic symptoms have concluded that individuals with
22q13 display hyperactive behaviors and many have a diagnosis of autism (Jeffries et al., 2003).
Dual Diagnosis in 22q13 Deletion Syndrome 4
CHAPTER II
Literature Review
Dual Diagnosis
The History of Dual Diagnosis
The history of dual diagnosis traces back to the signing of the Mental Health Centers Act in 1963 mandating the construction of community outpatient facilities (Wilkins & Matson,
2008). At that time, the psychological service system was dominated by a psychodynamic school of thought. This influenced the progress of treatments for individuals with ID and people with ID were described as not having enough “ego strength” to develop psychopathology, however, many researchers noted the relation between emotional disorders and intellectual disability
(Menolascino, 1977). Matson (1985) noted that a broad range of mental illness from schizophrenia to depression had been reported in individuals with intellectual disability since
1885. With the era of behavioral psychology, in 1953 Skinner began applying the principles of operant conditioning to psychiatric inpatients at a state hospital. They found that allowing tangible reinforcers for favorable behaviors to inpatients in a Skinner box in one hour long sessions led to a considerable increase in these behaviors. In 1961, Ferster and DeMeyer applied operant conditioning to autistic children by using a box that dispensed tangible objects when a key was pressed. This inspired a range of treatments based on behavioral theories that continue to be the backbone of behavioral management for individuals with intellectual disabilities. In the
1980s, the term “challenging behavior” was introduced to American psychology in order to describe problematic behaviors commonly exhibited by individuals with ID (Xeneditis, Russell
& Murphy, 2001). At this time, the term “dual Diagnosis” referred to the coexistence of any psychiatric disorders or substance abuse disorders dithin the same individual. The term was used
Dual Diagnosis in 22q13 Deletion Syndrome 5 interchangeably with “comorbidity” (Rassool, 2002). However in 1990, El Guebaly suggested the term should be used to describe groups that based on diagnostic systems such as the DSM have a major substance abuse disorder and a major psychiatric illness. At the same time, the term was used in the literature to describe individuals with intellectual disabilities and a major psychiatric illness. Based on this discrepancy and the vagueness of a term suggesting an individual with any two conditions could be considered dually diagnosed, Rostad and Checinski
(1996) concluded the term dual diagnosis was misleading and unhelpful. As a result of the representation of two different groups by the term dual diagnosis, official labeling for both groups differentiated into MISA (mental illness substance abuse) and MIMR (Mental illness and mental retardation) groups while continuing the use of the terminology (Rassool, 1997). By
1990, studies of mental health in individuals with ID had become a major area of concern. Reiss
(1990) reported that in a study of mental health services within the Chicago area, one half of the inpatient mental health beds were occupied by patients with ID. The need for experts in the area of psychopathology among individuals with ID became evident.
Prevalence Studies about Dual Diagnosis
The prevalence of psychiatric illness among individuals with ID has been studied forseveral years. The quality and outcomes of these studies showcase the variability in prevalence rates, as well as the consistent presence of psychiatric illness among the samples irrespective of the measures and methods used. Some studies focused on dual diagnosis in children, while others were concerned with overall rates of dual diagnosis. Birch, Richardson,
Barid, Horobin and Illsley (1970) conducted an investigation of the prevalence rate among 104 children ID aged 8 to10 years. Interviews of the teachers and caretakers of the participants were conducted by child psychiatrists. An overall of 30% were concluded to have clear psychiatric
Dual Diagnosis in 22q13 Deletion Syndrome 6 abnormality while an additional 20% had a possible abnormality. The same year, Rutter et al.
(1970) conducted a study involving assessments conducted by psychiatrists and questionnaires filled out by teachers/parents for 59 children aged 9 to10 years living in the Isle of Wight. They concluded that 23.6% of the children showed a marked psychological disorder. Corbett (1979) combined screening instruments and psychiatric examinations to determine dual diagnosis in 402 adults with ID aged 15 years and older. Results included an overall rate of psychiatric disorder within the population equaling 46.3%, with 25.4% of the dually diagnosed exhibiting behavioral problems. The same year, Dyggve and Kodahl (1979) examined dual diagnosis in 942 people of all ages from Denmark and found that 8.1% of the population suffered from severe problem behaviors, 2.2% with autism and 10% with psychosis. Therefore, the total prevalence rate for dual diagnosis in the sample was 20.3%. In 1982, Eaton and Menolascino conducted DSM III based psychiatric assessments of 798 with people with ID aged 6 to76 years of age in Nebraska.
They reported an overall dual diagnosis rate of 14.2% with the most common diagnosis being personality disorder in 3.9% of the sample. The same year Jacobson (1982) reported an overall rate of 11.6% of a sample of 32,500 people from New York as having psychiatric illness.
Gostason (1985) reported the results of psychiatric interviews conducted for 115 people with intellectual disabilities aged 20 to60 years of age living in a Swedish county; 33.9% of the sample at least had a moderate and definite mental illness. Lund (1985) interviewed the parents of 302 people aged 20 years and over with ID and determined an overall rate of 28.1% for dual diagnosis in the sample. In 1986, Gillberg et al. interviewed 164 parents of children aged 13 through 17 from Sweden who were identified as having ID, and a doctor examined the participants. The authors found that 54.3% of the sample had psychiatric diagnoses including depression, conduct disorder, psychotic behavior, autism, and schizophrenia. In 1989, Iverson
Dual Diagnosis in 22q13 Deletion Syndrome 7 and Fox used the PIMRA to determine psychopathology among 156 people from the
UnitedStates and found that 35.9% were classified with psychopathology. In 1990, Borthwick
Duffy and Eyman examined the records of 78,603 people with ID aged 0:01 to86 in California, and found that 10% of the sample had received a dual diagnosis from a qualified professional.
Jacobson (1990) expanded the work from his 1982 study to include 42,479 people and used psychological documentation in the subjects’ individual program plan to determine an overall dual diagnosis rate of 20% within the sample. In 1993, Rojahn, Hammer and Marshburn conducted one of the largest investigations of dual diagnosis with two large sites based in
California and New York describing the prevalence of dual diagnosis in 84,419 and 46,683 people with ID respectively. The California sample involved diagnoses made by qualified professionals using the he Client Development Evaluation Report (CDER) while the New York sample was diagnosed using the Developmental Disabilities Information Survey (DDIS). The prevalence of dual diagnosis for the California sample was an overall rate of 3.9% meeting a
DSM III R diagnosis while the New York sample had a prevalence rate of 5.4% had a DSM III
R diagnosis. Farmer et al. (1993) examined dual diagnosis in 3,185 people from England and
Wales using their regional health authority records and found an overall dual diagnosis rate of
17.8%. Einfeld and Tonge (1996) had 454 parents of children aged 4 to18 years from South
Wales fill out the Developmental Behavior Checklist (DBC). The authors found that 40.7% had a psychiatric disorder or major emotional/ behavioral disturbance. Cooper et al. (1997) conducted a study where 134 adults aged 65 years or older from Leicestershire were examined by a psychiatrist. They found that 61.9% of the sample had a psychiatric disorder, these included schizophrenia, behavioral problems, mania, autism, anxiety, dementia and obsessive compulsive disorder. Linna et al. (1999) administered the child depression inventory, parent and teacher
Dual Diagnosis in 22q13 Deletion Syndrome 8 questionnaires for 90 children aged eight years who attended special needs schools in Finland.
They found that 50% of the sample had a psychiatric disorder on at least one questionnaire and
11% of the sample scored within the depression range. 19.5% presented with emotional disturbance, 6.9% had behavioral problems and 5.9% had mixed emotional/behavioral problems.
Stromme and Diseth (2000) studied 178 children aged 8 to 13 years in a Norway by having them examined by a doctor and a child psychiatrist; they found that 36.5% had an ICD 10 diagnosis.
The ICD 10 (International Classification of Diseases) catalogues medical and mental health conditions as classified by the World Health Organization. The diagnoses included hyperkinesias, pervasive developmental disorders, behavioural andemotional problems, conduct problems and anxiety/phobias/obsessive compulsive behaviors. Dekker et al. in 2001 conducted an investigation of 968 children 6 to18 years of age who attended special needs schools in
Holland. This sample represented approximately 2% of the population, and had IQ scores lower than 80. The Child Behavior Checklist was completed by the parents/caretakers and teachers of the participants. About 50% of the sample was found to be in the borderline or clinical range. In
2001, Molteno et al. administered the teacher version of the Developmental Behavior Checklist for 355 children between the ages of 6 and18 years from Cape Town, South Africa; 31% of the children met the criteria for a dual diagnosis. Deb et al. (2001) screened 90 individuals aged 16 to64 using the mini PASS ADD (Psychiatric Assessments Schedules for Adults with
Developmental Disabilities) followed by interviews with psychiatrists using the PASS ADD to reach an ICD 10 diagnosis. Results indicated an overall prevalence rate of 14.4% for ICD 10 diagnoses including depression, schizophrenia, delusional disorder, bipolar disorder, generalized anxiety disorder and phobic disorder. Dekker and Koot (2003) employed the Diagnostic
Interview Schedule (DISC IV P) to investigate dual diagnosis in 474 children aged 7 to 20 years
Dual Diagnosis in 22q13 Deletion Syndrome 9 of age. They found that 38.6% of the sample met the criteria for a DSM IV Diagnosis. Emerson
(2003) conducted structured interviews with 264 children aged 5 and 15 years from England,
Scotland and Wales. 39% of the sample met the criteria for an ICD 10 diagnosis. Gustafsson and
Sonnader (2004) conducted assessments of 774 children from two Swedish counties using the
Reiss Screen for Maladaptive Behavior and the Psychopathology Inventory for Mentally
Retarded Adults. Based on the two measures, the overall prevalence of dual diagnosis in the sample for various diagnoses ranged from 34% to 64%. In 2007, Emerson and Hatton conducted a secondary analysis of the 1999 and 2004 Office for Nation Stastistics Surveys of the Mental
Health of British children and adolescents with and without intellectual disability. They found that dual diagnosis rates were 36% for children and adolescents with ID and 8% among children and adolescents without ID. In 2008, Morgan, Leonard, Bourke and Jablensky conducted an epidemiological study of dual diagnosis in 245,749 individuals from Western Australia using the
Western Australian population based psychiatric and intellectual disability registers. They found that 31.7% of people with intellectual disability had a psychiatric disorder, and that individuals with dual diagnosis represented 1.8% of people with a psychiatric illness. Therefore, there is a large amount of variability in the estimates of the prevalence of dual diagnosis within the intellectually disabled population. This can be due to the fact that most studies do not examine prevalence in groups based on etiology. Different etiologies may lead to different probabilities of psychopathology. Heterogeneous etiology of ID in studies of dual diagnosis may obscure true levels of dual diagnosis among persons with ID.
Challenging Behavior and Dual Diagnosis
Behaviors such as screaming, assaulting others, withdrawal in social situations, suicidal and other self injurious behaviors, eating problems, damaging property, and others are quite common
Dual Diagnosis in 22q13 Deletion Syndrome 10 in persons with intellectual disabilities (Dykens, 2000). The association between behavior problems and genetic syndromes causing ID is complex. The emergence of the field of
“behavioral phenotypes” indicates that behavioral differences do characterize many genetic disorders (Barnard, Pearson, Rippon & O’Brien, 2002). Behavioral phenotypes involve the heightened probability or likelihood that people with a given syndrome will exhibit certain behavioral and developmental sequelae relative to those without the syndrome” (Dykens, 1995).
There are several well known behavioral phenotypes associated with chromosomal disorders that may indicate dual diagnoses. For example, individuals with Smith Magenis Syndrome (17p11.2 deletion) are well known for aggressive behavious, self injurious behaviors, and sleep disturbances. Yet, they are rarely ever given a psychiatric diagnosis despite the presence of severely maladaptive behaviors (Dykens & Smith, 1998). Similarly, Prader Willi Syndrome
(15q11 q13 deletion) is associated with problems such hypotonia, feeding disorders, learning problems, intellectual disabilities, obsessive behaviors, and hyperphagia (Martin et al., 1998).
Despite the obsessive behaviors however, children with Prader Willi Syndrome are rarely ever given a diagnosis of obsessive compulsive disorder; these behaviors are overshadowed by the diagnosis of Prader Willi Syndrome (Dykens, Leckman & Cassidy, 1996). Children with autism frequently present with intellectual disabilities, aggressive behaviors, attention problem, self injurious behaviors, and destructive behaviors beyond the diagnostic criteria presented in the
DSM IV TR. Yet, other than ADHD, rarely are children with autism given a psychiatric diagnosis (Dykens & Volkmar, 1997). In contrast to this trend, persons with velocardiofacial
(VCF; 22q11 deletion) syndrome are frequently diagnosed as having bipolar disorder or schizophrenia. The behaviors observed considerably overlap with the DSM IV TR diagnostic criteria for bipolar disorder and schizophrenia (Jolin, Weller & Weller, 2009). Therefore, the
Dual Diagnosis in 22q13 Deletion Syndrome 11 area of dual diagnosis is full of uncertainties and complex issues surrounding what entails a second psychiatric diagnosis for an individual with intellectual disability. Although the relationship between challenging behaviors and genetic disorders is established and continues to be better understood, the relationship between these behaviors and formal psychiatric disorders is not well defined (Allen & Davies, 2007). Emerson, Moss and Kiernan (1999) described three different possible relationships between behavior and psychiatric disorders. Challenging behavior may be an atypical presentation of an underlying psychiatric disorder, it may also occur as a secondary to psychiatric disorder, and psychiatric disorder may act as an establishing operation (or setting event) for challenging behavior. Based on these theories, the concept of behavioral equivalent was described by Charlot (2005) as having two meanings. Behavioral equivalents may be observable, operational equivalents of psychiatric symptoms in individuals with ID. They may also be considered as alternatives to psychiatric symptoms. Studies of behavioral equivalents aim to demonstrate that certain behavioral signs co occur at high rates in association with other clinical signs or specific syndromes (Allen & Davies, 2007). In the support of behavioral equivalents, Moss et al. (2000) found a significant association between challenging behavior and increased psychiatric symptoms with an especially strong association between mood disorders and challenging behaviors. On the other hand, Holden and Gitlesen
(2003) found an association between challenging behavior and anxiety/psychosis but not depression. Tsiouiris, Mann, Patti and Sturmey (2004) found that challenging behaviors did not predict depression, however, loss of appetite and weight loss did. In a study examining behavioral equivalents for mania and anxiety in fragile X syndrome, Tyrer et al. (2006) found that frustration and mood swings were the only psychological factors associated with higher levels of aggression. Kishore, Nizamie and Nizamie (2005) found that having affective disorder
Dual Diagnosis in 22q13 Deletion Syndrome 12 was associated with higher scores on the aggression subscale of the Reiss and higher scores on the rebellious behavior domain of the Adaptive Behavior Scale. Hemmings et al. (2006) used a systematic approach and focused on symptoms rather than syndromes to explore behaviors in ID.
Self injury and aggression were associated with affective disorder while screaming and destructiveness were associated with the autistic triad of social impairment rather than a specific psychiatric disorder. Because high levels of challenging behavior occur in most diagnostic groups and that behavioral equivalents seem to lack specificity, Charlot (2005) concluded that there is little evidence supporting the presence of syndrome specific behavioral equivalents of psychiatric disorder in ID. Therefore, the relation between challenging behavior and psychiatric diagnoses is not well understood yet.
Issues in Dual Diagnosis
Assessing psychiatric conditions among children with intellectual disability is complicated by certain issues currently. Firstly, psychiatric conditions in children with intellectual disability can look different from they would in the general population because they may be masked or symptoms may be manifested in altered and more simplistic ways (Sovner,
1986). Due to this reason, the presentation of a mental health problem in intellectual disabled children might be hard to detect. For many of these children, communication of emotions or feelings of grandeur or paranoia (which one would see in psychosis) may not be possible due to lower levels of language skills. Instead, for example, a behavioral shift from baseline states can be an indicative of psychopathology (Reiss, 1994). Secondly, the assessment and treatment of dual diagnosis in the field is currently guided by documents such as the DSM IV TR or the
Diagnostic Manual – Intellectual Disability (DM ID). The DM ID is especially relevant to dual diagnosis and incorporates symptoms and manifestations of psychopathologies that might be
Dual Diagnosis in 22q13 Deletion Syndrome 13 specific to intellectual disabilities (Fletcher, Loschen, Stavrakaki & First, 2007). However, the
DM ID is a document compiled by the opinions and guidelines provided by expert clinicians in the field. Therefore, although there is a need for evidence surrounding the assessment and treatment of dual diagnosis, current research has not been successful in answering these questions and clinical expertise is currently filling in the gap. The clinical focus of the DM ID indicates the complications in determining dual diagnoses among individuals with ID that hinder the process of sound research. In order to make considerable progress within the field of Dual
Diagnosis, tough questions about the validity of dual diagnoses based on behavioral symptoms need to be answered. Finally, there is also a tendency among mental health professionals to overlook mental health problems as fundamentally part of the intellectual disability in these children (Reiss et al., 1982). This bias is known as diagnostic overshadowing and refers to the fact that mental health problems become less salient and significant when accompanied by an intellectual disability (Mason & Scior, 2004). These issues complicate the diagnosis of a psychopathology among children with intellectual disability and hinder the process of providing them the resources and treatment that they need.
Risk Factors Associated with Dual Diagnosis
There are several risk factors associated with dual diagnosis that highlight the etiology of psychopathology among individuals with intellectual disability. These risk factors range from biological and psychological to social factors influencing the mental health of individuals with
ID. Because children with ID are at a heightened risk for mental health problems, pre existing risk factors for psychopathology from the typical population cannot simply be applied to this group. Therefore, the unique biological, social and psychological factors influencing the
Dual Diagnosis in 22q13 Deletion Syndrome 14 development of mental health problems among individuals with ID need to be considered in order to extrapolate potential risk factors for individuals with 22q13.
There are aspects of an individual’s environment, especially familial factors that influence psychopathology among children with ID. Factors such as familial support, stress, parental coping style, parental maladjustment and parental perception of their child influence children with ID. However, the relationship between familial factors (such as stress and coping) and psychopathology among children with ID seems to be bidirectional with evidence of child psychopathology being the single best predictor of family stress in families of children with
Prader Willi syndrome, Smith Magenis syndrome and 5p syndrome (Hodap, Dykens & Masino,
1997). Investigations into psychopathology among ID individuals indicate them to be more sensitive to life events and family factors (Tsakanikos, Costello, Holt & Bouras 2007). Maternal depression has been known to be a robust predictor of psychopathology among offspring, and perceived stress specific to their child’s psychopathology has been associated with quality of life for the child as well (Chadda, Singh & Ganguly, 2007). Also, among the major stressors that affect the caretakers of ID individuals, maternal depression is known to be a key stressor
(Hammen et al., 1987). Therefore, it is not a simple relationship and there is not necessarily a causal relationship between family stress and coping and psychopathology in children with ID.
However, the two greatly influence each other and familial factors should be accounted for when looking at psychopathology in children with ID.
In terms of the social factors that influence psychopathology among children with ID, these social problems may be within the individual, the family or outside the family. There are some social factors that pertain to individuals with ID more than the general population, for example, individuals with ID are at a heightened risk for exploitation and for physical and sexual
Dual Diagnosis in 22q13 Deletion Syndrome 15 abuse (Ammerman, Hersen, Van Hasselt, Lubetsky, & Sieck, 1994). Also, many individuals with
ID lack the appropriate social skills and are not able to read subtle non verbal cues using facial expressions or body language within a social context (Greenspan & Granfield, 1992). These deficits place children with ID at risk for peer rejection and ostracism. Peer relations among children are mediated by the ability to negotiate with a peer in a conflict situation. Another factor mediating peer relations is how different the individual is perceived to be by his or her peers.
(Leffert & Siperstein, 1996). For children with ID that do establish friendships with other children, these friendships are atypical and tend to lack various components of typical peer dyads such as co operative play, laughter, decision making and hierarchical division of roles
(Siperstein, Leffert & Wenz Gross, 1997). Based on the etiology, children with ID may be at risk for peer difficulties for various reasons. For example, children with Prader Willi Syndrome are at a higher risk for peer difficulties than others with ID due to their obesity and behavior problems
(Dykens & Kasari, 1997). Similarly, children with Williams Syndrome experience difficulty establishing peer relations due to their anxiety, social disinhibition, and indiscriminate relating to others (Dykens & Rosner, 1999). Therefore, the social abilities and relations formed by individuals with ID are influenced by the etiology behind their intellectual deficits. Poor peer relations are associated with psychopathology within the general population as well as the intellectually disabled population (Dykens, 2000). Peer rejection is associated with a range of mental health problems such as depression. Therefore, the condition underlying ID influences an individual’s peer relations, which in turn influence their mental health.
In addition to the previously discussed factors, there are specific biological factors that influence prevalence of psychopathology among individuals with ID. These individuals experience certain distinct biological vulnerabilities based on the etiology of their ID. Examples
Dual Diagnosis in 22q13 Deletion Syndrome 16 include self injurious behavior, sensory impairments and seizure disorders. These biological factors seem to be sensitive to level of intellectual disability and the etiology of the ID as well.
For example, seizures among individuals with ID are sensitive to their intellectual functioning and increase as IQ lowers, consequently, 30 to 50% of persons with severe to profound intellectual disability suffer from seizures (Bird, 1997). In this specific example, a higher risk of epilepsy is relevant since epilepsy is associated with many psychiatric conditions in children with ID such as psychosis (Lund, 1985). Epilepsy/ seizure frequency has also been found to interact with severity of intellectual disability to result in an overall increased risk for psychopathology among individuals with ID (Ring, Zia, Lindeman & Himlok, 2007). Similarly, rates of self injurious behavior are higher among individuals with severe to profound delays and those residing in institutions than individuals with higher functioning (Rojahn, 1994). In addition to the influence of IQ, self injurious behavior patterns may also be sensitive to the etiology of the
ID. Therefore, while hand biting is more common among individuals with Fragile X Syndrome, head banging and nail pulling are more prevalent among individuals with Smith Magenis
Syndrome (Nyan, 1994). Similarly certain sensory impairments are associated with an elevated risk for psychopathology as well. For example, deaf children are three times more likely to display psychiatric symptoms than individuals with normal hearing, and approximately 17% of children with ID are deaf (Hindley, 1997). Also, certain motor impairments such as cerebral palsy are associated with hyperactivity and inattention, and 60% of individuals with cerebral palsy are intellectually disabled (Hodapp, 1998). Blindness is associated with a variety of psychiatric problems including adjustment problems, personality, problems and autistic like behaviors and approximately 30% of the visually impaired population is intellectually disabled
(Warren, 1994). Therefore, children with both intellectual and sensory impairments are
Dual Diagnosis in 22q13 Deletion Syndrome 17 particularly vulnerable to emotional and behavioral problems (Hodapp, 1998). This is particularly relevant to individuals with 22q13 since they can present with a variety of motor and sensory impairments. Because there is a continuum among individuals with 22q13 in terms of their motor abilities, it would be interesting to see if their mental well or specific diagnoses are associated with motor abilities. Overall, it is important to consider the psychological symptoms associated with 22q13 as well as the specific risk factors that may be elevated within this population due to its specific etiology.
22q13 Deletion Syndrome
Genetic Vulnerabilities to Specific Psychopathology Among Individuals with 22q13
Based on the genetic nature of the 22q13 deletion syndrome, it is important to consider specific psychiatric diagnoses that might be associated with a deletion in this part of the genome and examine the prevalence of these related disorders among individuals with 22q13. Current molecular research is indicating chromosome 22 as a key player in the emergence of schizophrenia. These studies highlight two deletions on the 22chromosome at 22q11 and 22q13 as being the most promising candidates for schizophrenia (Condra, Neibergs, Wei, & Brennan
2007). Given that there are at least three loci on 22q13 that are associated with schizophrenia or affective disorders based on linkage studies, recent studies of chromosome 22q13 have uncovered possible susceptibility genes for schizophrenia and bipolar disorder. One of these loci includes the G protein coupled receptor 24 (GPR24), which is located between markers
D22S279 and D22S276 on 22q13.2 (Severinsen et al., 2006). Another possibly important region is the PICK1 gene located on 22q13 which has been studied by Fujii et al.(2006) for any association with Schizophrenia. PICK1 interacts with the enzyme serine racemase (SR) by its
PDZ domain to generate D serine. Although these loci on 22q13 are associated with
Dual Diagnosis in 22q13 Deletion Syndrome 18 schizophrenia, no studies to date have suggested that PMS is associated with schizophrenia.
Although psychological research has assimilated this finding into studying 22q11 (Velo Cardio
Facial Syndrome) populations as a model for schizophrenia; 22q13 populations have yet to be examined. The reason for this gap in the literature is twofold. First, the 22q13 population is one that has only been identified within the last decade and hence comprises of approximately 400 individuals all over the world. Second, the Phelan McDermid Syndrome (22q13) population suffers from moderate to profound intellectual disability with individuals having severely impaired or absent speech. This makes identification or diagnosis of a disorder such as schizophrenia quite challenging. Historically intellectual disability was associated with an exclusion of the possibility of schizophrenia as a diagnosis (Gordon et al., 1994, Russell et al.,
1989). An additional complication to the study of psychotic disorders among the 22q13 population is that many of the identified individuals are children or young adults. This implies that even if they were capable of communicating the information that is required for identification of a psychotic disorder, it would result in a diagnosis of early onset schizophrenia.
Though not a common diagnosis, early onset schizophrenia as a diagnosis has some evidence supportive of its diagnostic stability (Lee et al., 2003). Psychotic disorders among the general population have been studied for risk factors that may predict emergence early. Many of these risk factors associated with psychotic disorders among individuals with intellectual disability such as low verbal IQ and OCD (Gothelf et al., 2007) overlap with features of 22q13. Given all these factors, it is important to examine the possibility of schizophrenia/psychotic symptoms among individuals with 22q13. There is a need for more investigations of diagnosis such as early onset schizophrenia among persons with ID specifically (Lee et al., 2003). Intellectual disability itself renders a person a certain amount of disadvantage in coping with the world around them.
Dual Diagnosis in 22q13 Deletion Syndrome 19
An additional condition such as schizophrenia can affect the quality of life of a person with ID substantially. This implies that while other individuals may be able to communicate their experiences and needs in order to acquire the resources and support they require, a non verbal intellectually disabled person may have severe severely limited adaptive functioningcaused by their dual diagnosis. The impact of psychopathology is known to be much larger on the quality of lives of ID individuals and even the possibility of prevalent psychosis among this population based on clinical impressions renders it worthy of investigation.
The 22q13 deletion has many features that suggest an association between 22q13 and autism. Over the past decade, several studies have investigated this link between 22q13 and autism. Durand et al (2007) conducted an extensive study of the relationship between 22q13 deletion syndrome and autism using a sample of 227 persons diagnosed with autism spectrum disorder (ASD). The study also included a control group of 270 typically developing individuals.
Based on the genetic evaluation of the subjects and the use of the ADOS (Autism Diagnostic
Observation Schedule) and ADIR (Autism Diagnostic Interview Revised), five subjects
(belonging to three families) with ASD were identified as having deletions in the 22q13 region.
There were no cases where 22q13 deletions were found in control samples. Also, SHANK3 affecting the post synaptic density has been linked to autism. This finding is consistent with previous studies finding that mutations in X link NLGN3 and NLGN4 may influence the development of autistic symptoms. Since both Autism and 22q13 involve impairment in the development of language and social communication, it is possible that these specialized post synaptic proteins that affect the development of language and social communication. Nair
Miranda et al. (2004) tested 82 persons diagnosed with autism (69 with an ICD 10 diagnosis of autism and 13 with a diagnosis of atypical autism) for terminal deletions in the 22q13.3 region.
Dual Diagnosis in 22q13 Deletion Syndrome 20
All regions were intact for at least 20, however, two participants were found to have ring chromosome 22. Although both were described by caregivers, educators, and physicians as having autistic characteristics, neither met the diagnostic criteria for autism according to the
ADOS and ADIR. Therefore, there is some evidence for a link between atypical autism and
22q13. Similarly, in a study of 11 persons with 22q13 deletion (Manning et al., 2004), one was identified as having a ring chromosome, five exhibited autistic like behaviors including decreased socialization, self injurious behaviors and repetitive self stimulatory actions. Four persons among the sample were reported to have demonstrated developmental regression. Two were reported to have lost motor milestones and two reported to have lost previously attained language milestones.
The Psychological Profile of 22q13
Examining previous studies of the behavior and development of individuals with 22q13 can contribute to a better understanding of the psychological profile of this population including particular dual diagnoses associated with the disorder. Luciani et al (2003) conducted a study of
33 persons with a pure partial 22q13 monosomy (i.e., excluding translocations and ring chromosomes) and found that all 33 subjects expressed significant behavioral disorders. These behavior disorders included hyperactivity, sleep difficulties, aggressive outbursts, and states of confusion. The behaviors became more severe with age; however, the study did not include any standardized observational systems but used clinical observations and caregiver reports instead.
Wilson et al. (2003) studied the developmental profile of 56 persons with 22q13 deletion syndrome using the Developmental Profile II, a parent interview scale used to assess functional developmental level. The DP II contains five scales including physical, fine, and gross motor skills; self help and daily living skills; social and interpersonal skills; academic and pre
Dual Diagnosis in 22q13 Deletion Syndrome 21 academic skills; and expressive and receptive communication. The composite score derived from these scales is referred to as an Intelligence Equivalence. All children in this study were reported to have severe to profound intellectual disabilities based on the DP II. The mean Intelligence
Equivalent from the DP II was 37.9 (4.14 standard deviations below the population mean).
Communication skills were the lowest for the 22q13 population (M = 28.0, sd = 24.0). This study also used the Scales of Independent Behavior Revised—Full Scale (SIB R), a parent interview measure of adaptive and problem behaviors. The SIB R results overlapped with the
DP II. The mean Broad Independence (composite score) standard score was 41.9 (i.e., 3.87 standard deviations below the population mean). The SIB R scores were lowest for community living skills followed by functional Communication skills. Overall, the authors reported that individuals with 22q13 demonstrated fewer problem behaviors than other children with severe to profound intellectual disabilities. Jeffries and colleagues (2003) studied 35 persons with 22 ring chromosome using the Social Communication Questionnaire (SCQ), previously known as the
Autism Screening Questionnaire and the five item ADHD subscale of the Parent rated Strengths and Difficulties Questionnaire (PSDQ). Of the 27 participants, 18 demonstrated high likelihood of autistic symptoms. In addition, 23 of the 27 scored higher than the at risk threshold criteria for autistic symptoms. In addition, 12 of the participants had been previously diagnosed with autism.
For the PSDQ, 9 of 25 participants met the diagnostic criteria for ADHD. Sovner et al., (1996) suggested that persons with ring chromosome 22 were at high risk for mood disorders, including rapid cycling atypical bipolar disorder. The authors also note that previous reports of extreme hyperactivity, attention deficits, and impulse control may be better accounted for by atypical bipolar disorder rather than ADHD. In a study conducted by Phelan et al. (2001), twenty persons with 22q13 (15 simple deletions, 4 unbalanced translocations, and 1 mosaic deletion)
Dual Diagnosis in 22q13 Deletion Syndrome 22 participated in a psychological assessment in order to determine the psychological profile of the population. This study used the motor and cognitive scales from the Battelle Developmental
Inventory (BDI), a parent interview and direct observation measure of development; The
Vineland Adaptive Behavior Scales (VABS), a measure of functional and social skills, and the
Childhood Autism Rating Scale (CARS). The BDI did not have an adequate floor to accurately assess persons scoring in the moderate to severe range of intellectual disabilities; however, the mean age equivalent on the BDI Cognitive was 11.3 months while the mean chronological age of the sample was 78 months. The mean composite score on the VABS was 4.24 standard deviations below the population mean and thus indicated a severe deficit in functional skills. 17 of 18 individuals with 22q13 demonstrated evidence of autism based on the CARS results.
Twelve participants scored in the moderate to severe range while 5 were within the mild range.
The authors noted that scores on the CARS were significantly correlated with cognitive ability.
Therefore, based on the available literature, individuals with 22q13 may be vulnerable to dual diagnoses including schizophrenia/psychotic disorders, bipolar disorder, autism and ADHD.
Conclusion
The literature on psychopathology among individuals with intellectual disabilities demonstrates a complex relationship between the etiology of the intellectual disability, the intellectual functioning of individuals, their adaptive functioning, and the psychological symptoms manifested by them. These variables are also influenced by the familial and environmental factors within the individuals’ lives. Because the 22q13 deletion syndrome population is one of the most recently discovered genetic syndromes, the psychological and adaptive profiles of the population have not been studied in detail.
Rationale for Current Study
Dual Diagnosis in 22q13 Deletion Syndrome 23
Based on the review of the literature on psychopathology in genetic disorders, it is evident that the development of psychopathology in these disorders is influenced by several factors. Also, the variability in the prevalence of psychopathology in ID makes it important to consider the prevalence of dual diagnosis in specific genetic disorders as well. Similarly, based on the presence of unique patterns of pathology and behavior problems depending on the etiology of the ID, a pattern of psychopathology for the 22q13 deletion syndrome needs to be established. The rationales for studying dual diagnosis in 22q13 deletion syndrome extend across various domains of study and practical implications in the lives of individuals with 22q13. First, the description of various aspects of dual diagnosis would help create a profile of the 22q13 deletion population that professionals could refer to in order to understand the nature of the syndrome. In addition, the establishment of relations between specific environmental factors and psychopathologies within the population would help define predictors and risk factors that can be used to create a model for the development of psychopathology within the population. Second, the behaviors, developmental skills and psychopathologies associated with the 22q13 deletion help infer the functions and influence of the 22q13 genes within the general population. Third, the psychopathologies associated with the 22q13 deletion may explain the role of genes on
22q13 in the expression of these psychopathologies within the general population. Fourth, understanding factors that differentiate dually diagnosed individuals from those without psychopathology can help identify protective factors. Similarly, understanding aging effects on the behavioral, adaptive and psychological functioning of individuals with ID helps families know what to expect as their child with 22q13 ages. Fifth, the results from this study can guide future directions of investigation within this population that can eventually establish optimal
Dual Diagnosis in 22q13 Deletion Syndrome 24 treatments and interventions in order to improve the functioning and quality of life of individuals with 22q13 deletion syndrome.
Objective of Current Study
The aim of this study is to determine the prevalence of dual diagnosis in the 22q13 deletion syndrome population, to describe the specific psychopathologies associated with dual diagnosis in the population, to examine the impact of psychopathology on family quality of life and to establish relationships between other environmental, adaptive, family and demographic variables and dual diagnosis. This study is descriptive in nature and aims to provide a base from which the understanding of psychopathology in the 22q13 deletion syndrome can be further developed.
Dual Diagnosis in 22q13 Deletion Syndrome 25
CHAPTER III
Methods
Participants.
This study included 31 subjects including 13 males and 18 females. The sample had an average age of 10.13 years with a standard deviation of 6.78 years and information regarding each participant was provided by his/her parent. Males had an average age of 11.08 years while females had an average age of 9.44 years. However, the sexes did not different significantly in age (p = 0.5). The demographic characteristics of the sample are presented in Table 2.
Table 1
Mean Values of Continuous Variables
______
Variable N M S.D
______
Female Age 18 9.44 4.81
Male Age 13 11.08 8.97
No. of Siblings 31 1.23 0.99
______
Table 2
Demographic Variables: Frequency Table
______
Variable Negative Positive
______
Same Sex Sibling 20 11
Dual Diagnosis in 22q13 Deletion Syndrome 26
Medical Illness 16 15
Significant Hospitalization 9 22
Medication 10 21
Has Allergies 16 15
Complications during Pregnancy 14 17
Drug/Alcohol Use during Pregnancy 24 7
Child h as a Diagnosis of Autism 22 9
Family History of Mental Illness 13 17
______
Recruitment
Participants were recruited at the 2007 Biennial conference of the 22q13 Deletion
Syndrome Foundation in South Carolina. Demographic information forms and questionnaires about family quality of life, adaptive functioning and mental health were then collected from the parents. Among the sample, 5 participants were contacted after the conference and the required forms were filled out over the phone with them.
Measures
A demographic questionnaire was compiled in order to incorporate specific demographic variables of interest for this study (Appendix C). The Beach Center Family Quality of Life Scale
(FQOL) was used as a measure of family variables including quality of life (Hoffman, Marquis,
Poston, Summers & Turnbull, 2006; see Appendix D). Mental health was assessed using the
Reiss Scales for Children's Dual Diagnosis (Reiss & Valenti Hein, 1990) and adaptive functioning was measured by the Vineland Adaptive Behavior Scales, Second Edition (Sparrow,
Cicchetti & Balla, 2005).
Dual Diagnosis in 22q13 Deletion Syndrome 27
The Family Quality of Life Survey
The Beach Center Family Quality of Life Scale is a measure of quality of life formulated by the Beach Centre on Disability (Park et al., 2003). The FQOL comprises of five subscales:
Family Interaction, Parenting, Emotional Well Being, Physical/Material Well being, and
Disability Related Support. Cronbach’s alpha on satisfaction ratings was 0.88 with significant test retest reliability at the .01 level (df from 59 to 63). The Family Interaction subscale measures the subjects’ satisfaction level concerning communication and support between family members and includes items such as “My family members talk openly with each other” The Parenting subscale measures satisfaction regarding parenting style in relation to all children in the family as well as the child with special needs. This subscale includes items such as “Family members help the children learn to be independent” The Emotional Well being subscale measures satisfaction regarding the emotional states of all family members and includes items such as “My family has the support we need to relieve stress.” The Physical/Material Well being subscale measures satisfaction regarding financial and health status. This subscale includes items such as “My family has a way to take care of our expenses.” The Disability Related Support subscale measures the subjects’ satisfaction regarding the resources and support provided to the family member with disability, this subscale includes items such as “My family member with special needs has support to make friends.” An item level fit for the 5 subscale model was acceptable at
χ² (270) = 617.28, p < .001. The FQOL Scale measures satisfaction using a 5 point Likert scale with 1 = very dissatisfied, 2 = dissatisfied, 3 = neither satisfied nor dissatisfied, 4 = satisfied and
5 = very satisfied. Individual ratings are added up to derive the overall quality of life. Due to its inclusion of several environmental and familial factors, the FQOL was selected as a good overall
Dual Diagnosis in 22q13 Deletion Syndrome 28 measure of familial and external environmental factors that can influence the mental health of a child with disability.
The Reiss Scales for Children's Dual Diagnosis
The Reiss Scales for Children’s Dual Diagnosis is a 60 item child and adolescent version of the Reiss Screen for Maladaptive Behavior. This scale is a caretaker rating system of behavior and symptoms. The Reiss Scales screen for mental health problems in children and adolescents with intellectual disabilities. Caretakers rate the extent to which carefully defined symptoms are no problem, a problem, or a major problem. A “no problem” rating is applicable to items where the category does not apply to the child, the child does not engage in the behavior or if the behavior does not occur with sufficient frequency, intensity, or severity to be considered a current problem. A “Problem” rating entails that the behavior interferes with the child’s social or school functioning or that the behavior occurs often or with an unusual degree of severity. A
“major problem” rating is applicable when the behavior causes a great deal of discomfort/suffering for the child or the behavior occurs with a very high frequency/intensity, or, if the behavior significantly interferes with the child’s social adjustment. Each item is then scored with no problem scored as 0, a problem = 1 and major problem = 2. The items contribute to 10 psychometric scale categories including Anger/Self Control, Anxiety, Attention problems,
Autism, Conduct Disorder, Depression, Low Self Esteem, Psychosis, Somatoform Behaviors and
Withdrawn Behavior. The Scale is also made up of individual significant behavior items that may require intervention including crying spells, enuresis/encopresis, hallucination, involuntary movements, lying, obesity, pica, fire setting, sexual problem and verbally abusive. For each subscale, the score is then compared to a cut off that indicates significance when exceeded. The total score is used as a measure of dual diagnosis in addition to the psychometric scales. The
Dual Diagnosis in 22q13 Deletion Syndrome 29
Reiss has two criteria for determining positive results for dual diagnosis; either the total score for the child should be above a value of 29, or, at least two scale scores should exceed the cut off out of the ten psychometric scales. The manual indicates that a significant score on one scale cannot be considered as a positive dual diagnosis since there is a chance for statistical fluctuation to result in healthy subjects scoring high on one scale. For the purpose of this study, individual psychometric scales were also considered as indicatives of pathology, but were not necessarily included within the dual diagnosis group. Also, the significant behavior of enuresis/encopresis was included as a grouping variable since there a considerable number of subjects that scored significantly on this scale. Individual significant behaviors do not directly contribute to positive results for dual diagnosis; however, they influence the total score.
The Vineland Adaptive Behavior Scales.
The Vineland Adaptive Behavior Scale – Second Edition (Vineland II) is a measure of adaptive functioning and maladaptive Behaviors that is available as a survey interview, parent/caregiver rating, and teacher rating and expanded interview form. For the purpose of this study, the parent/caregiver rating form was used to assess adaptive functioning. The survey interview, parent/caregiver and expanded interview forms are applicable to subjects aged 0 to 90 years of age while the teacher rating form extends from ages 3 to 22:11 years. The
Parent/Caregiver form takes approximately 20 to 60 minutes to fill out. The Vineland yields several domain Scores and an Adaptive Behavior Composite in the form of standard scores with a mean of 100 and standard deviation of 15. Percentile Ranks, Adaptive Levels and Age
Equivalents are also available for the domain Scores and Adaptive Behavior Composite. The domain scores include Communication, Daily Living Skills, Socialization, Motor Skills and
Maladaptive Behavior Index. These Domains are made up of subdomains that are measured in
Dual Diagnosis in 22q13 Deletion Syndrome 30 the V Scale with a mean of 15 and standard deviation of 3. The Communication domain is made up of receptive, expressive and written language subdomains. The Daily Living Skills domain is made up of Person, Domestic and Community care subdomains. The Socialization domain comprises of the Interpersonal Relationships, Play and Leisure Time and Coping Skills subdomain scales. The Motor Skills domain comprises of fine and gross motor skills subdomains. The Maladaptive Behavior Index contains subdomains including internalizing behaviors like fearfulness, externalizing behavior like temper tantrums and other maladaptive behaviors like inappropriate sexual behaviors. Scores on this index can fall within the normal, elevated or clinical range. The items within each subdomain of the Vineland are developmentally organized and thus certain items correspond to skills that would typically be seen in a child of a specific age. Typically, the Parent/Caregiver Rating form indicates starting points for each subdomain depending on the child’s age. However, in order to incorporate extremely low adaptive skills within this population, all parents were instructed to start rating each of the subdomains at the first item. In addition to their low functioning, children with 22q13 deletion syndrome are also prone to regression of individual skills because of which their adaptive profiles can be quite variable. Similarly, the 22q13 population is heterogeneous in terms of motor skills with some individuals being non ambulatory while others have age appropriate motor skills. Therefore, it was important to have the parents rate each subdomain from the first item.
Each of the Domain skills and the Adaptive Behavior Composite were used as independent variables in this study.
Procedure
Participants signed up for the study at the reception of the 22q13 Biennial Conference and indicated their preferred time slot. Based on their selected time slot, participants were then
Dual Diagnosis in 22q13 Deletion Syndrome 31 interviewed in order to fill out the demographic information and family measures. Packages containing forms for dual diagnosis and adaptive functioning were then provided to the parents to be filled during the course of the conferences. Parents would then drop off the filled packages to be scored and entered.
Data Analyses
Because this is a descriptive study aiming to examine different aspects of the mental health of individuals with 22q13, several exploratory analyses were conducted. Four main categories of variables: the demographic variables, adaptive functioning variables, mental health variables and family variables were manipulated in this study. Descriptive information such as means and standard deviations were calculated for all the continuous variables and frequencies were tabulated for the grouping variables. Because demographic variables were used as grouping variables in this study, one way ANOVAs comparing the adaptive functioning, mental health and family functioning based on demographic characteristics were conducted. The criteria set forth by the Reiss were used to create a dual diagnosis grouping variable in order to compare the adaptive functioning, mental health and family functioning of individuals with and without a dual diagnosis. Correlations between adaptive functioning, mental health and family functioning variables were conducted in order to examine which factors influence each other within the three domains. In order to examine the influence of factors on individual psychometric scales, family and adaptive functioning variables were correlated with scores on the ten psychometric scales.
Dual Diagnosis in 22q13 Deletion Syndrome 32
CHAPTER IV
Results
Age & Sibling Effects
There were significant effects of age and number of siblings on various family, adaptive functioning and mental health variables. Aging was negatively correlated with quality of life and parent satisfaction with disability related support (Table 3). Adaptive functioning significantly decreased with age and was negatively correlated with each of the domains on the Vineland
(Table 4). Also, age was significantly positively correlated with externalizing behaviors (r =
0.39). Age did not significantly correlate with any mental health variables. Number of siblings was significantly correlated with the emotional well being of families. However, number of siblings was not significantly correlated with any adaptive functioning or mental health variables. In a comparison of mean number of siblings between the sexes, females (M = 1.61) had significantly more siblings than male (M = 0.69) participants (F = 8.01, p<0.01).
Table 3
Age Effect: Correlation with Family Variables
______
Family Parenting Emotion Material Disability QOL
______
Age 0.22 0.14 0.04 0.16 0.39* 0.54**
No. Siblings 0.00 0.23 0.36* 0.29 0.23 0.07
______
*p<0.05.** p<0.01
Table 4
Dual Diagnosis in 22q13 Deletion Syndrome 33
Age Effect: Correlation with Adaptive Functioning Variables
______
ComS DlsS SocS MotS ABC Mal Int Ext ______
Age 0.53** 0.60** 0.74** 0.07 0.65** 0.38* 0.22 0.39*
______*p<0.05** p<0.01
The Family Quality Of Life Survey
In order to assess mean responses on the subscales of the family quality of life survey, mean scale scores were divided by the number of items per scale since each subscale comprised of a different number of items (see Table 5). Based on this derived mean (m), satisfaction about family interaction, parenting and material/physical well being were near a rating of 4 (satisfied).
Average satisfaction about Disability Related Support was a little below the satisfied rating of 4.
The average rating for emotional well being by parents of children with 22q13 was closer to the rating for “neither satisfied nor dissatisfied (rating of 3). Therefore, among the subscales on the family quality of life survey, emotional well being had the lowest average rating which fell below the satisfied range. Overall quality of life among individuals with 22q13 was within the satisfied range. Inter correlations for the FQOL scales revealed significant correlations between family interactions, parenting and emotional well being (see Table 6). Emotional Well Being was also significantly correlated with Material Well Being and Disability Related Support.
Disability Related Support was significantly correlated with Parenting, Emotional Well Being and Material Well Being. Although many subscales of the FQOL were significantly correlated with each other, Quality of Life did not correlate with any of the individual subscales. In a series of one way analyses of variance conducted based on demographic characteristics, thirteen
Dual Diagnosis in 22q13 Deletion Syndrome 34 families with a history of mental illness had significantly higher parenting scores (M = 25.88, SD
= 4.06) than seventeen families without a history of mental illness (M = 23.15, SD = 2.42), F=
5.27, p < 0.05.
Table 5
Means and Standard Deviations for FQOL Scores
______
Variables M n m S.D
______Family Interaction 25.77 6 4.29 3.43
Parenting 24.65 6 4.108 3.41
Emotional Well Being 13.00 4 3.25 4.14
Material/Physical Well Being 22.29 5 4.46 3.04
Disability Related Support 15.19 4 3.79 3.37
Quality of Life (QOL) 100.90 25 4.20 13.02
______
Table 6
Inter correlations of FQOL Scales
______
Family Parenting Emotion Material Disability QOL
______
Family 0.69** 0.42* 0.20 0.32 0.13
Parenting 0.59** 0.28 0.37* 0.92
Emotion 0.39* 0.54** 0.06
Dual Diagnosis in 22q13 Deletion Syndrome 35
Material 0.59** 0.29
Disability 0.13
QOL
______
*p<0.05.** p<0.01
The Reiss Scales for Children’s Dual Diagnosis
A comparison of the mean subscale scores on the Reiss Scales for Children’s Dual
Diagnosis yielded Psychosis as the highest scoring subscale. This was followed by Attention
Deficit and Withdrawn Behavior (see Table 7). The lowest scoring subscale was poor Self
Esteem followed by Conduct Disorder and Somatoform Behaviors. Therefore, the 22q13 sample had the highest mean score on the Psychosis subscale, and the lowest mean score on the poor
Self Esteem subscale. None of the mean subscale scores were above individual cut off scores, and therefore, did not reach significant levels. Certain critical items from the Reiss such as lying, obesity, fire setting, sexual problem, verbally abusive were excluded from the study due to lack of scores above 0 on these subscales. Also, the critical items enuresis/encopresis had a frequency of 13 individuals (41.94%), pica of 3 (9.67%) and involuntary movement for 2 individuals
(6.45%). Inter correlations of Reiss psychometric scales yielded several significant correlations
(see Table 8) however; Psychosis did not significantly correlate with any of the individual psychometric scales or the total score (stats). In addition, comparisons of mental health variables based on demographic characteristics yielded several significant results. First, fifteen individuals with medical illnesses had a significantly higher mean Autism subscale score of 2.40 (2.32) than sixteen individuals without any medical illnesses (M=0.94, S.D=0.93), F= 5.42, p<0.05. Second, individuals with a diagnosis of autism scored significantly higher on the total Reiss score,
Dual Diagnosis in 22q13 Deletion Syndrome 36 attention deficit subscale, depression subscale and withdrawn subscale (see Table 9), Fs = 6.49,
5.55, 7.08, 24.74; ps<0.05. Third, based on the criteria provided by the Reiss manual, individuals meeting the criteria for dual diagnosis scored significantly higher on the Withdrawn, Anger/Self
Control, Attention Deficit, Autism subscales, Total Reiss Score and the Socialization skills score than individuals without dual diagnosis (See Table 10), Fs =12.62, 5.36, 17.13, 7.33, 36.89, 5.05; ps<0.05. In addition to these subscales, the Somatoform Behaviors, Anxiety, Conduct Disorder,
Depression and Self Esteem subscales also yielded significant results but did not meet the criteria for the test for homogeneity of variance. Therefore, these subscales were not included in the results. Although comparisons of adaptive functioning, family quality of life, and demographic characteristics between individuals with and without dual diagnosis were conducted, no significantly results were found. However, in a comparison between individuals meeting the cut off for significant Anger/self control problems (N=6) and those who didn’t (N=25), the former
(M=20.83, SD =2.778) scored significantly higher than the latter (M=17.08, SD= 3.25) on the internalizing subscale of the Vineland, F=6.75,p<0.01. Similarly, individuals meeting the cut off for Attention problems (N=8) scored significantly higher on the Vineland externalizing behavior scale (M=17.50, SD = 2.82) than individuals that did not meet the cut off (M=15.48, SD=2.06),
F=4.69, P<0.05. Therefore, the differences between the dually diagnosed and non dually diagnosed individuals with 22q13 were not apparent within the domains of quality of life.
However, the differences were apparent in terms of behavioral symptoms and overall mental health. Also, significant anger/self control and attention problems were associated with higher
Internalizing and Externalizing scale scores on the Vineland.
Table 7
Means and Standard Deviations for Reiss Scores
Dual Diagnosis in 22q13 Deletion Syndrome 37
______
Variables M S.D
______
Anger/Self Control 2.48 2.54
Anxiety 0.81 1.35
Attention Deficit 2.87 2.01
Autism 1.65 1.87
Conduct Disorder 0.74 1.26
Depression 1.16 1.39
Poor Self Esteem 0.48 1.20
Psychosis 3.16 1.57
Somatoform Behaviors 0.74 1.63
Withdrawn 2.55 2.66
Total Score (RTOT) 19.61 11.90
______
Table 8
Inter correlations of Reiss Scales: ______
Ang Anx Att Aut Con Dep Sel Psy Som Wit RTOT ______
Anger 0.49** 0.44* 0.50** 0.54** 0.36 0.49** 0.06 0.33 0.26 0.72**
Anxiety 0.39* 0.31 0.36* 0.08 0.61** 0.14 0.46** 0.10 0.57**
Attention 0.26 0.57** 0.28 0.37* 0.06 0.38* 0.41* 0.66**
Autism 0.51** 0.27 0.46** 0.15 0.48** 0.31 0.72**
Dual Diagnosis in 22q13 Deletion Syndrome 38
Conduct Disorder 0.15 0.37* 0.00 0.35 0.23 0.61**
Depression 0.63** 0.15 0.12 0.70** 0.60**
Poor Self Esteem 0.08 0.59** 0.47** 0.76**
Psychosis 0.06 0.21 0.30
Somatoform Behaviors 0.11 0.57**
Withdrawn 0.63**
Total Score (RTOT)
______*p< 0.05 ** p<0.01
Table 9
Group Means and Standard Deviations for Reiss Subscales Based on Autism Diagnosis
______
Group, M (SD)
______
Reiss Subscales No Diagnosis Autism Diagnosis
(N=22) (N=9)
______
RTOT 16.41(8.37) 27.44(15.82)
Attention Deficit 2.36(1.59) 4.11(2.47)
Depression 0.77(0.81) 2.11(2.03)
Withdrawn 1.41(1.53) 5.33(2.87)
______
Table 10
Group Means and Standard Deviations for Reiss Subscales based on Dual Diagnosis
Dual Diagnosis in 22q13 Deletion Syndrome 39
______
Group, M (SD)
______
Reiss Subscales No Dual Diagnosis Dual Diagnosis
(N=25) (N=6)
______
Withdrawn 1.84(2.14) 5.50(2.81)
Anger/Self Control 2.00(2.29) 4.50(2.74)
Attention Deficit 2.28(1.64) 5.33(1.50)
Autism 1.24 (1.27) 3.33 (3.01)
RTOT 15.32(6.51) 37.50(13.06)
Social Skills 50.60(15.68) 66.50(14.95)
______
The Vineland Adaptive Behavior Scales
The adaptive functioning means for the 22q13 sample revealed domain scores that were more than two standard deviations below the normative mean of 100. Within the domains, communication skills were the lowest and social skills were the highest (see Table 11). Inter correlations of the Vineland domains and scales resulted in significant correlations between all the domains. All domains of adaptive functioning were also significantly correlated with the
Adaptive Behavior Composite. Similarly, the three maladaptive behavior indexes were significantly correlated with each other. Inter correlations between the adaptive functioning domains and maladaptive behavior yielded a significant correlation between internalizing behaviors and daily living skills (r= 0.39, p<0.05). In analyses of variance based on
Dual Diagnosis in 22q13 Deletion Syndrome 40 demographic characteristics, several factors such as medication status were compared.
Participants that were not on medication had significantly higher mean scores on the Vineland communication skills, daily living skills and social skills were significantly higher, and significantly lower internalizing behavior scores Fs= 4.33, 10.49, 5.21, 6.99, 5.06 and ps <0.05
(see Table 13). Participants without any allergies (N=16, M = 59.25) had significantly higher
Motor skills scores than participants with allergies (N=15, M=47.57), F=5.42, p<0.05.
Participants with a diagnosis of Autism scored significantly higher on the Internalizing
Behaviors subscale (N=9, M=19.89, SD=3.822) than participants without a diagnosis (N=22.
M=16.95, SD=3.00), F=5.22, p<0.05. Based on the Reiss scores, individuals with dual diagnosis had statistically significantly higher socialization skills than those without a dual diagnosis. Also, individuals with dual diagnosis had a mean score of 20.17(4.49) on the Internalizing Behaviors scale compared to a mean score of 17.24 (3.02) for individuals without a dual diagnosis.
Although this difference was not statistically significant, a score of 20.17 falls within the elevated range according to the Vineland manual and a score of 17.24 falls within the average range. Therefore, individuals with a dual diagnosis on the Reiss fell within the elevated range on the Internalizing Behavior scale of the Vineland.
Table 11
Means and Standard Deviations for Vineland Scores ______
Variables M S.D
______
Communication 47.16 16.41
Daily Living Skills 49.48 17.30
Social Skills 53.68 16.58
Dual Diagnosis in 22q13 Deletion Syndrome 41
Motor Skills 53.45 15.34
Adaptive Behavior Composite 48.48 15.45
Maladaptive Behavior 18.26 2.79
Internalizing Behavior 17.81 3.46
Externalizing Behavior 16.00 2.40
______
Table 12
Inter Correlations of Vineland Domains & Indexes ______
ComS DlsS SocS MotS ABC Mal Int Ext ______
Communication 0.88** 0.83** 0.51** 0.95** 0.23 0.24 0.02
Daily Living Skills 0.79** 0.57** 0.94** 0.26 0.39* 0.00
Social Skills 0.42* 0.92** 0.34 0.30 0.19
Motor Skills 0.55** 0.14 0.16 0.33
Adaptive Behavior Composite 0.26 0.30 0.16
Maladaptive Behavior Index 0.80** 0.79**
Internalizing Behaviors 0.59**
Externalizing Behaviors
______
Table 13
Group Means and Standard Deviations for Vineland Domains based on Medication Status
______
Dual Diagnosis in 22q13 Deletion Syndrome 42
Group, M (SD)
______
Vineland Domains No Medication Medication
(N=10) (N=21)
______
Communication 55.60(13.03) 43.14(16.58)
Daily Living Skills 62.20(13.85) 43.43(15.61)
Social Skills 62.90(11.78) 19.29(16.94)
Adaptive Behavior Composite 58.20(11.50) 43.86(15.14)
Internalizing Behavior 15.90(3.25) 18.71(3.25)
______
Relation between Family, Adaptive and Mental Health Variables
In order to examine how the family, adaptive and mental health variables influence each other, correlations between these three groups of scores were performed. Among the family variables that significantly correlated with adaptive functioning, Emotional Well Being was significantly correlated with Internalizing Behavior scores (r= 0.4, p<0.05) and Disability
Related Support was significantly correlated with Externalizing Behavior scores (r= 0.4, p<0.05). Therefore, increase in Internalizing Behaviors was related with lower emotional well being among families of individuals with 22q13 while increased externalizing behaviors were related with lower disability related support (see Table 10). Family variables did not correlate with any of the Reiss psychometric scales except for Psychosis (see Table 11). Psychosis significantly correlated with Family Interaction (r= 0.54), Parenting (r= 0.57), Emotional Well
Being (r= 0.62) and Quality of Life (r= 0.62), ps<0.01. Therefore, increased psychotic
Dual Diagnosis in 22q13 Deletion Syndrome 43 symptoms were associated with lower family interaction, parenting, poorer emotional well being and quality of life. In terms of the relation between adaptive functioning and mental health (see
Table 12), communication skills were found to significantly correlate with Somatoform
Behaviors (r= 0.43, p<0.05). Among Maladaptive Behavior Index scale, Internalizing Behaviors were significantly correlated with Autism scores (r=0.45, p<0.05), Depression scores (r= 0.50, p<0.01), Poor Self Esteem scores (r=0.49, p<0.01) and Total Reiss Scores (r=0.54, p<0.01).
Externalizing Behaviors were significantly correlated with Attention Deficit (0.46, p<0.01) and
Conduct Disorder score (0.42, p<0.05). Maladaptive behavior scores were significantly correlated with Poor Self Esteem scores (0.39, p<0.05).
Table 14
Correlations between Family & Adaptive Functioning Variables
______
Family Parenting Emotional Material Disability QOL Interaction Well Being Well Being Related Support ______
ComS 2.21 1.85 1.12 1.76 0.43 0.19
DlsS 0.26 0.19 0.05 0.029 0.17 0.06
SocS 0.26 0.11 0.01 0.04 0.18 0.07
MotS 0.17 0.24 0.19 0.12 0.15 0.20
ABC 0.26 0.18 0.02 0.08 0.09 0.12
Mal 0.03 0.11 0.17 0.18 0.28 0.19
Int 0.07 0.22 0.40* 0.20 0.35 0.34
Ext 0.08 0.18 0.22 0.35 0.40* 0.32
______*p<0.05 ** p<0.01
Dual Diagnosis in 22q13 Deletion Syndrome 44
Table 15
Correlations Between Family & Mental Health Variables
______
Family Parenting Emotional Material Disability QOL Interaction Well Being Well Being Related Support ______
Anger 0.01 .06 0.23 0.03 0.07 0.10
Anxiety 0.16 0.10 0.28 0.22 0.18 0.12
Attention 0.17 0.08 0.08 0.25 0.07 0.03
Autism 0.04 0.03 0.24 0.14 0.04 0.03
Conduct 0.12 0.16 0.12 0.05 0.05 0.11
Depression 0.07 0.23 0.16 0.15 0.07 0.02
Self Esteem 0.04 0.01 0.18 0.12 0.22 0.13
Psychosis 0.54** 0.57** 0.62** 0.25 0.25 0.62**
Somatoform 0.11 0.16 0.13 0.22 0.25 0.08
Withdrawn 0.11 0.02 0.12 0.09 0.01 0.02
RTOT 0.01 0.04 0.34 0.03 0.13 0.16
______*p<0.05** p<0.01
Table 16
Correlation between Mental Health & Adaptive Functioning Variables: ______
ComS DlsS SocS MotS ABC Mal Int Ext ______
Anger 0.19 0.11 0.16 0.16 0.19 0.19 0.30 0.31
Dual Diagnosis in 22q13 Deletion Syndrome 45
Anxiety 0.20 0.03 0.15 0.05 0.12 0.21 0.31 0.21
Attention 0.14 0.11 0.15 0.28 0.16 0.20 0.25 0.46**
Autism 0.11 0.04 0.07 0.00 0.04 0.24 0.45* 0.27
Conduct 0.18 0.13 0.09 0.17 0.16 0.27 0.31 0.42*
Depression 0.18 0.25 0.03 0.16 0.14 0.31 0.50** 0.09
Self Esteem 0.18 0.01 0.22 0.00 0.16 0.39* 0.49** 0.25
Psychosis 0.07 0.02 0.16 0.16 0.07 0.08 0.22 0.02
Somatoform 0.43* 0.11 0.32 0.10 0.30 0.15 0.21 0.22
Withdrawn 0.24 0.07 0.10 0.04 0.00 0.08 0.27 0.13
RTOT 0.14 0.04 0.18 0.08 0.11 0.27 0.54** 0.30
______*p<0.05.** p<0.01
Dual Diagnosis in 22q13 Deletion Syndrome 46
CHAPTER V
Discussion
This study produced several findings pertaining to dual diagnosis and the mental health profile of the population. The aim was to answer two main questions: 1) what is the mental health profile of the 22q13 population? 2) What is the prevalence and nature of dual diagnosis within this population? Because this is a descriptive study, several additional results emerged about family and adaptive functioning that will also be discussed. Finally, based on the discussed findings, clinical implications of the results, limitations of the current study and directions for future research will be discussed.
Mental Health Profile of 22q13
The mental health profile of individuals with 22q13 was derived from conclusions about frequently and infrequently occurring symptoms and pathologies as determined by the Reiss
Scales for Children’s Dual Diagnosis. Among the mean values for the ten psychometric scales within the Reiss scales for Children’s Dual Diagnosis, Psychosis was the highest scoring symptom followed by attention deficit. The high incidence of attention problems was consistent with the findings from Jeffries et al. (2003). These areas of psychopathology might be of significance to the 22q13 population. Psychosis stood out as a unique scale because it did not significantly correlate with any other scales including the total score. This implies that psychotic symptoms were not associated with overall mental health while the rest of the subscales strongly correlated with it. The poor self esteem, conduct disorder, and somatoform behavior scales were the most infrequent on average and did not yield a significant score for any subjects within this sample. Therefore, poor self esteem, conduct disorder, and somatoform behaviors may be infrequent conditions in 22q13. Similarly, certain critical items on the Reiss such as lying,
Dual Diagnosis in 22q13 Deletion Syndrome 47 obesity, sexual problem, verbally abusive and fire setting scored null values for all the subjects within the sample; indicating them to be infrequent areas of difficulty within the 22q13 population. Other conditions such as enuresis/encopresis were prevalent for 41.94% of the sample. This represents a significant area of concern within the 22q13 population. Other concerns such as pica and involuntary movements were less frequent within the sample, but may represent areas of concern that were not sufficiently represented within this sample. In examining the influence of family functioning on mental health, no significant associations were found.
However, the Reiss subscales did correlate with adaptive functioning in various ways. First, the
Vineland Maladaptive Index and the Reiss produced correlations in areas of overlap so that externalizing behaviors correlated with attention deficit and conduct problems while internalizing behaviors correlated with the autism, depression, self esteem and total Reiss scores.
Therefore, the internalizing behaviors measures on the Vineland overlapped with a measurement of overall mental health based on the Reiss. In addition, higher communication skills were associated with greater somatoform behaviors. Although somatoform behaviors typically address somatic complaints as symptoms of psychopathology; headaches, stomach aches, frequent medical visits and changes in sleep behavior are real problems that are encountered by individuals with 22q13 deletion. Therefore, the association between communication skills and somatic complaints may simply represent a better awareness about the child’s pain due to his/her communication skills. Lower somatoform behaviors by children with lower communication skills would explain why some parents feel unsure whether their child’s discomfort or irritability is caused by some kind of physical pain or by some other underlying factor. Finally, a significant aging effect on externalizing behaviors was found, this was consistent with the observation of increasing hyperactivity and problematic behaviors with age by Luciani et al. (2003). Therefore,
Dual Diagnosis in 22q13 Deletion Syndrome 48 psychosis, attention problems and enuresis/encopresis were common maladaptive behaviors exhibited by the 22q13 sample and aging was associated with increasing externalizing behaviors.
The Prevalence and ature of Dual Diagnosis in 22q13
Based on the Reiss manual and scores, six subjects met the criteria for dual diagnosis.
This translated into nineteen percent of the sample having a mental health condition in addition to their intellectual disability. This value is consistent with previous findings estimating the rate of dual diagnosis in intellectual disability to range between 10 to 20% (Borthwick Duffy, 1994).
Of these six, three individuals had significant attention problems and four had significant withdrawn behavior. One individual with dual diagnosis had significant autistic symptoms. The low incidence of autistic symptoms within the sample was inconsistent with findings by Jeffries et al. (2003) whereby 23 of 27 individuals had higher than at risk levels of autistic symptoms. In addition, one subject had significant psychosis; another had significant anxiety and the third had significant depressive symptoms. Therefore, dual diagnosis in this sample was most marked by significant attention deficit and withdrawn behaviors. In addition, psychosis, autism, depression and anxiety were also dual diagnoses observed within the sample. Among the dually diagnosed individuals, a significant autism score was accompanied by significant anger/self control problems, attention deficit and somatoform behaviors. The Autism Scale correlated with anger/self control, conduct problems, poor self esteem and somatoform behaviors within the
Reiss as well. In the demographic data obtained, approximately 29% of the sample (N=9) had a previous diagnosis of autism. These subjects scored significantly higher on the attention deficit, depression, withdrawn behavior subscales in addition to having significantly higher total Reiss scores. However, the two autism based variables did not share significant correlation with a single common variable, and also, individuals with a diagnosis of autism did not score
Dual Diagnosis in 22q13 Deletion Syndrome 49 significantly higher on the autism scale of the Reiss than individuals without the diagnosis.
Comparisons between individuals with significant and non significant autism scores could not be conducted since only one subject exceeded or met the cut off score. There was some overlap in the results from the analysis of variance based on dual diagnosis and the analysis of variance based on a clinical diagnosis of autism. Both the analyses yielded higher attention deficit, withdrawn behavior and total Reiss scores for the groups with diagnoses. This suggests a strong overlap between the two criteria and even perhaps that behavioral symptoms such as attention deficit, withdrawn behavior and overall mental health determine clinical judgment about an autism diagnosis for individuals with 22q13 rather than autistic symptoms specifically. It is also possible that the Reiss autism subscale alone does not measure autistic symptoms well enough to make a clinical judgment about an autism diagnosis. This is supported by the fact that the Reiss manual cautions against making diagnoses based on significant scores on one scale. In addition to the above mentioned, individuals with dual diagnosis had significantly higher scores on the
Autism Scale of the Reiss, the Anger/Self control subscale and the Socialization domain from the
Vineland. The higher socialization score for individuals with dual diagnosis, while still within the low range, is counter intuitive and may represent a stronger ability to demonstrate symptoms such as anger/self control problems or inattentive behavior in comparison to individuals that do not interact with other people as much. In terms of the hypothesis pertaining to dual diagnosis, psychosis was an area of interest based on the genetic evidence linking 22q13 deletions to schizophrenia. Within the results of this study, psychosis emerged as a rare yet unique psychopathology scale that did not correlate with any other scales including the total Reiss score.
Although all the other scales did not correlate with any family variables, psychosis was significantly associated with all the family variables except material well being and disability
Dual Diagnosis in 22q13 Deletion Syndrome 50 related support. Psychosis was also the only mental health variable to correlate with quality of life, which was expected to be influenced by dual diagnosis or overall mental health. This suggests a higher sensitivity to/ impact of psychotic symptoms on environmental factors compared to other psychopathologies within this population. There was evidence for both autistic and psychotic symptoms within the 22q12 population, however, psychotic symptoms were more common and autism diagnoses were more common. Therefore, in terms of dual diagnosis, attention problems and withdrawn behavior were among the major behavioral problems displayed by individuals with 22q13 and autism and psychosis were the two psychopathologies associated with the population.
Additional Findings
Because this study was descriptive in nature and used adaptive and family functioning as variables associated with mental health, several additional findings were found. Aging had a negative impact on quality of life and disability related support. This could be related to the significant increase in externalizing behaviors with age since externalizing behaviors were found to significantly negatively correlate with disability related support. On the other hand, internalizing behaviors on the Vineland were associated with deterioration of emotional well being in families. Although age was negatively correlated with all domains of adaptive functioning, it is important to consider that this is not necessarily due to a deterioration/regression in adaptive skills, but instead a consequence of higher comparison values based on age norms for older children with 22q13. Therefore, the relative difference between age matched norms and the adaptive skills of children with 22q13 deletion syndrome increased over time, which is predictable. In addition, the number of siblings positively correlated with increased emotional well being in a family and may represent a protective factor
Dual Diagnosis in 22q13 Deletion Syndrome 51 for the family system. Females with 22q13 deletion also had significantly more siblings than male subjects; this may speak to the viability of offspring within families susceptible to the
22q13 deletion. Among the family variables, disability related support was the lowest scoring variable and hence represents a lack of satisfaction among families about the services that their child is receiving. Families with a history of mental illness also reported higher parenting scores than families with no history of mental illness. This particular finding may be associated with the confidence and support parents receive from their extended families when their child is diagnosed with 22q13. Among the adaptive skills, socialization was the highest scoring scale while communication was the lowest; this is consistent with the findings from Wilson et al
(2003). Increasing internalizing behaviors were associated with decreasing daily living skills, which implies that internalizing behavior affects daily skills and emotional well being of families. Medication and the presence of medical illnesses also had a significant impact on adaptive functioning and family functioning. Individuals on medication had lower communication skills, daily living skills, socialization skills, adaptive behavior composites, and higher internalizing behaviors on the Vineland. Similarly, individuals without allergies had significantly higher motor skills than individuals without allergies. The findings about allergies are peculiar and indicate some association between physical illness/conditions and adaptive functioning that need to be further investigated. There could also be cluster symptoms that occur for specific 22q13 deletions that affect motor functioning and the immune system together for example.
Clinical Implications
The clinical implications of the findings from this study extend from assessment to the diagnosis and treatment of mental health issues in individuals with 22q13 deletion syndrome.
Dual Diagnosis in 22q13 Deletion Syndrome 52
First, the assessment of autism in individuals with 22q13 deletion syndrome needs to be more stringent and clinicians should be aware of a possible bias toward autism diagnoses in this population. This bias is suggested by the fact that the percentage of individuals with an existing autism diagnosis in this sample exceeded the percentage that met the criteria for a dual diagnosis.
Second, awareness about the trend towards increasing externalizing behavior can help practitioners and families plan and implement interventions to manage behavior problems as their child ages. Third, the high prevalence of withdrawn behavior needs to be addressed by appropriate interventions since such symptoms can sometimes be overlooked while problematic behaviors are quickly addressed. Fourth, individuals on medications should be monitored for symptoms of psychopathology.
Limitations
There were certain factors within the study that influenced the strength as well as the generalize ability of the results. First, the sample size of the study (N= 31) limited the analyses conducted within the study, for example, certain correlations approaching significance failed to do so because of a small sample size. A larger sample size would capture the nature of the 22q13 population more effectively. However, it is important to acknowledge that with a total known population size of approximately 400, 31 subjects represent roughly 7.8% of the population.
Second, the quality of life measures did not pass the test for homogeneity for variance in several analyses of variance. Average response values indicated that ratings on all measures ranged from
“satisfied” to “very satisfied” values, and hence the set of total scores did not have much variance. Also, family quality of life was not affected by the adaptive functioning or mental health of the member with 22q13. This could be due to a selection bias, since most of the interviews for this study were conducted at the biennial conference, parents might have been in a
Dual Diagnosis in 22q13 Deletion Syndrome 53 more optimistic state of mind. Meeting and interacting with other parents in the same situation as themselves may have led to a reporting of higher levels of satisfaction with the domains of quality of life than would’ve been reported by them on an average day of their lives. Third, the measure of psychopathology in this study required supporting evidence in order to assert dual diagnosis specific to a single condition. Although the Reiss Scales for Children’s Dual Diagnosis contained criteria to determine dual diagnosis, these criteria required more than a significant score on one of the psychopathology subscales. However, this brought to question the inference of a significant subscale score, therefore, a significant score on the attention deficit scale was not sufficient to determine a dual diagnosis entailing attention deficit hyperactivity disorder. An additional measure of attention deficit such as the Aberrant Behavior Checklist could confirm significant attention problems among individuals that did not meet the dual diagnosis criteria for the Reiss. Similarly, the inclusion of specific measures such as the Children’s Autism Rating
Scale would provide further useful information about the nature of dual diagnosis in the 22q13 population.
Directions for Future Research
Several questions arise from the findings of this study that need to be investigated in the future. First, based on the findings from this study, the predictors of psychopathology within the
22q13 population are yet to be determined. Based on the fact that several external or environmental factors failed to correlate with dual diagnosis, it is important to consider that perhaps the nature of psychopathology is determined by other factors. Because the nature of the
22q13 deletion syndrome is genetic, genetic factors may play a stronger role in determining psychopathology within the population. An examination of psychopathology in relation to deletion size, and deletion quality could provide important information that relates not only to
Dual Diagnosis in 22q13 Deletion Syndrome 54 psychopathology within the 22q13 population, but also to the role of these genes in determining psychopathology within the general population as well. Correlations between deletion size, the influence of missing deletions encoding for the SHANK3 protein and its effect on autistic symptoms would provide informative results. Second, an examination of dual diagnosis using of a comprehensive set of measures in order to complement findings from the Reiss would shed further light on the nature of dual diagnosis in the 22q13 population. Because the detection of
22q13 has only been available within the past decade, majority of the population comprises of youth and children. In order to gain a thorough understanding of dual diagnosis in 22q13, a longitudinal design examining risk factors, predictors, and the development of psychopathology is required. Predictors such as parental mental health, frequency of seizures, adaptive functioning, and even protective factors examining specific kinds of services that may prove beneficial for the population need to be included in future studies. Third, the association between medication and mental health needs to be examined further in future studies. Fourth, the prevalence and nature of psychosis within the 22q13 deletion population needs to be determined.
This study was unsuccessful in establishing a clear link between psychosis and 22q13 beyond the fact that on average, psychotic symptoms exceeded all other subscale means. The reason for this is two fold; first, the Reiss subscale and significance on the subscale were not sufficient to determine dual diagnosis. Second, the determination of psychosis among severely impaired individuals that are unable to communicate thoughts of delusions or the perception of hallucinations is extremely challenging (Moss, 2001). The influence of atypical antipsychotic medication (AAP) on psychotic symptoms within this population also needs to be studied.
Although AAP’s are used within the intellectually disabled population for a variety of reasons including aggressiveness and irritability(Malone et al., 2002), monitoring their influence on
Dual Diagnosis in 22q13 Deletion Syndrome 55 psychotic symptoms such as flat affect, blank stares etc. could shed light on these and other behaviors that might be unique expressions of psychosis within the 22q13 population. Also, this study found some interesting links between allergies and motor skills, medical illnesses and autistic symptoms that need to be further investigated. This can be done by examining the connection between a variety of medical illnesses commonly experienced by individuals with
22q13 such as reflux, digestive problems, and allergies and how they may be associated with specific psychopathologies and adaptive functions. The common factor linking functioning in these different domains may be genetic deletions. Finally, monitoring the effects of different types of interventions and services on the mental health, adaptive functioning and family functioning of individuals with 22q13 deletion syndrome would yield evidence based services that prove to be effective in managing the behavioral, educational and daily needs of individuals with 22q13.
Conclusion
There is much to be understood about the mental health, adaptive functioning, behavioral and the developmental profile of individuals with 22q13. This study was able to establish that dual diagnosis exists within this population at a prevalence rate of approximately 19% with attention problems and withdrawn behavior being the two most common behavioral problems.
Autism and psychosis also emerged as dual diagnoses, with autism being a clinical diagnosis made for approximately 29% of the current sample. Dual diagnosis (determined by overall mental health/ the total Reiss score) was associated with the internalizing score on the Vineland and the attention, withdrawn behavior, autism and total scores on the Reiss. Clinical diagnoses of autism were associated with elevated behavioral problems and overall mental health, but, did not overlap with higher autism subscale scores. Additional findings shed light on the need for the
Dual Diagnosis in 22q13 Deletion Syndrome 56 inclusion of genetic deletion data and other behavioral measures in order to understand the link between mental health, adaptive functioning and family quality of life.
Dual Diagnosis in 22q13 Deletion Syndrome 57
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Dual Diagnosis in 22q13 Deletion Syndrome 71
Appendix A
Consent form for Parents: Biennial Conference
Dual Diagnosis in 22q13 Deletion Syndrome 72
Dual Diagnosis in 22q13 Deletion Syndrome 73
Appendix B
Consent Form for Parents: Post conference
Dual Diagnosis in 22q13 Deletion Syndrome 74
Dear Parent,
With the support of the Department of Educational and Counselling Psychology at McGill University, I am conducting a study of psychological issues related to children with Phelan McDermid Syndrome (22q13 Deletion Syndrome). The purpose of the study is four fold: 1) to investigate the presence and nature of skill loss in our children, 2) to look into possible links between 22q13 deletion and susceptibility to bipolar and schizophrenic disorders; and 2) to investigate issues related to sibling and family stress.
If you agree to participate, you will be asked to speak with a research team for a 90 minute interview. Families will be asked to complete behavioral checklists, inventories, and interviews. The estimated total time for completing these instruments is 90 minutes.
Interviews may be audio and video recorded. All information gathered through your participation will remain secure in locked cabinets at our research lab at McGill University in Montreal. No identifying visual image or sound will be released beyond the lab without additional consent.
If you are willing to participate in these interviews, please the consent form at the bottom of this letter. You will also need to provide your email address so that I can contact you to arrange your appointment. If you have any additional questions about this study, you may contact me directly by email or telephone.
Sincerely,
Steven R. Shaw, Ph.D., NCSP [email protected] (514)398 4913
Consent Form
I have read the description of the research and hereby agree to participate. I am aware that my identity and that of my family will remain confidential, and the result will be used for research purposes only. I am also aware that I can withdraw from participation at any time for any reason without penalty or prejudice.
Name: ______Signature: ______
e mail: ______Telephone: ______
I agree to have my interview audio taped yes / no
I agree to have my interview videotaped yes / no
Dual Diagnosis in 22q13 Deletion Syndrome 75
Appendix C
Demographic Questionnaire
Demographic and initial questions:
1. Your name: ______
2. Child’s name: ______
3. Child’s sex: ______
4. Ethinc group: ______
5. e mail address: ______
6. Home nation, state, city: ______
7. Child’s birthdate (month/day/year): ______
8. What is your relationship to the child? ______
9. Who are the people CURRENTLY living in our household (including yourself and the
child)? Please include the people who eat, sleep and share your home on a regular basis.
You can write on the back of this sheet if you need more space.
Name Sex Age Relation to child? How long has he
or she lived with
the child?
Dual Diagnosis in 22q13 Deletion Syndrome 76
10. Does the child have any illnesses or conditions for which he/she received regular care
(e.g. asthma, diabetes, seizures)?
11. Significant hospitalizations or surgeries
12. Names of current medications
13. Medications taken in the past
14. Any Drug or major food allergies?
15. Immunizations:
a. DPT
b. OPV
c. HIB
d. MMR
e. Hepatitis
f. Varacella
16.Complications during pregnancy, labor and/or delivery:
17. Drug or alcohol use during pregnancy (e.g. including prescription medications):
18. History of abuse:
19. Allergies (i.e. food, medicine, or environmental)
20. Has your child been diagnosed with autism?
21. What What other medical, psychiatric, or educational diagnosis has your child received?
22. Any family history of mental health issues?
Intellectual disabilities:
Autism
Learning Disabilities
Dual Diagnosis in 22q13 Deletion Syndrome 77
Bipolar disorder
ADHD
Depression
Schizophrenia
Alcohol Abuse
23. Have you participated in Dr.Shaw’s research in the past?
Dual Diagnosis in 22q13 Deletion Syndrome 78
Appendix D
Family Quality of Life Survey
Dual Diagnosis in 22q13 Deletion Syndrome 79