Defining Mental and Behavioural Disorders in Genetically Determined Neurodevelopmental Syndromes with Particular Reference to Prader-Willi Syndrome (original) (raw)
Related papers
Prader-Willi syndrome: new insights in the behavioural and psychiatric spectrum
Journal of Intellectual Disability Research, 2002
Prader-Willi syndrome (PWS) is a genetic disorder caused by the loss of the paternal contribution of the proximal part (15q11-q13) of the long arm of chromosome 15 (i.e. deletion, disomy and imprinting mutation). The syndrome is associated with distinct physical dysmorphism, as well as with specific behavioural and psychopathological characteristics. Psychiatric symptoms in adolescence and adulthood have been described, including acute cycloid psychosis, and obsessive compulsive, bipolar and pervasive developmental disorders. At the Centre for Human Genetics in Leuven, Belgium, 53 individuals (31 children and adolescents, and 22 adults) have been followed up for 15 years by a special multidisciplinary team. Attention was given to their medical, cognitive, behavioural and emotional development, and the evolution of psychiatric disorders in adolescence and adulthood. This study describes the psychiatric problems in four patients diagnosed with acute cycloid psychosis and traces their development from infancy to adolescence. Four other individuals needed psychiatric evaluation and treatment, and could be diagnosed as having unspecified bipolar disorder, also termed unstable mood disorder. Both groups were compared, and significant differences in early development and later evolution into adulthood were noted. The individuals with PWS who later developed psychotic episodes were described as active and extrovert toddlers, and showed autistic behaviour during their primary school education. Their intellectual functioning was in the moderate to severely retarded range. The individuals with PWS who later developed an unstable mood disorder were described as rather passive and introvert toddlers, and they presented less disturbed behaviour during their primary school education. The intellectual functioning of these subjects was in the normal to borderline range.
Behavioral phenotype in adults with Prader-Willi syndrome
Research in developmental disabilities
Prader-Willi syndrome (PWS) is characterized by temper tantrums, impulsivity, mood fluctuations, difficulty with change in routine, skinpicking, stubbornness and aggression. Many studies on behavior in PWS are limited by sample size, age range, a lack of genetically confirmed diagnosis of PWS and inconsistent assessment of behavior. The aim of this study was to explore systematically the relation between behavioral problems and age groups, genetic subtypes and BMI categories in an adult PWS population. Participants were contacted via the Dutch Prader-Willi Parent Association and through physicians specialized in persons with ID. Behaviors were studied using the Developmental Behavior Checklist for Adults (DBC-A). The forms were completed by the main caregivers of 98 adults with a genetically confirmed diagnosis of PWS. Differences between age groups were statistically significant (ANOVA, p=0.03). DBC-A total scores were higher in the consecutive age groups, with the most behavioral ...
Maladaptive behaviors and risk factors among the genetic subtypes of Prader-Willi syndrome
American Journal of Medical Genetics Part A, 2005
Maladaptive behaviors among 65 people with Prader-Willi syndrome were assessed using the Reiss Screen for maladaptive behaviors. Young adults in their twenties were more likely to display aggressive behavior than adolescents and older adults. Differences in maladaptive behaviors between the typical deletion and uniparental disomy (UPD) subtypes were evaluated. The typical deletion subtype had higher self-injury and stealing scores than the UPD subtype. Subject characteristics were differentially related to maladaptive behavior among the typical deletion and UPD subtypes. Differences in maladaptive behavior were also examined between the typical deletion type I and type II subtypes. The type I deletion subtype had greater physical depression scores than the type II deletion subtype. The Reiss Screen cut-off scores were used to determine whether differences occurred between the subtypes at a clinically significant level. These findings offer insight into the health care needs of people with PWS.
A profile of mental health and behaviour in Prader–Willi syndrome
Journal of Intellectual Disability Research, 2019
Background Prader-Willi syndrome (PWS) is a neurogenetic syndrome with an associated behavioural phenotype and a high incidence of behaviours of concern and psychiatric co-morbidity. These associated behaviours and co-morbidities are not well addressed by existing interventions, and they impact significantly on affected individuals and their caregivers. Methods We undertook a national survey of the needs of individuals with PWS and their families in Ireland. In this paper, we report on the parent/caregiver-reported mental health, behavioural and access to services. Results Over 50% of individuals with PWS in this survey had at least one reported psychiatric diagnosis, the most common diagnosis was anxiety. The most commonly reported behaviours in children were skin picking, repetitive questioning, difficulty transitioning and non-compliance. The same four behaviours were reported by caregivers as being the most commonly occurring in adolescents and adults in addition to food-seeking behaviours. Increased needs for mental health services were also reported by caregivers. Individuals with PWS had an average wait of 22 months for an appointment with a psychologist and 4 months for an appointment with a psychiatrist. Conclusion This study highlighted high levels of psychiatric co-morbidities and behavioural concerns in individuals with PWS in Ireland. The findings of this study suggest that there is an urgent need to provide specialist psychiatric and behavioural interventions to manage complex mental health and behavioural needs to better support individuals with PWS and reduce caregiver burden.
Prader-willi syndrome: Genetics and behavior
Peabody Journal of Education, 1996
Since its inception, the John F. Kennedy Center has attempted to overcome developmental problems, which create restrictive barriers to the participation of individuals with specific disabilities in our broader society. Some of Nicholas Hobbs's earliest efforts involved developing strategies for preventing children's emotional and behavior problems, which interfered with their later full participation in society. Other investigators in the Kennedy Center explored ways of reducing dysfunctional repetitive movement problems and self-injury commonly associated with autism and severe mental retardation. We have become concerned about a group of people who have the potential to live largely independently (or semi-independently), to work at meaningful jobs in the community, and to make full use of the same recreational and leisure opportunities as other members of society but who are prevented from doing so because of a life-threatening behavior problem. Prader-Willi syndrome (PWS) is a genetic developmental disability characterized by a group of specific behavioral features of which an insatiable appetite is the most striking. PWS is the most commonly known genetic cause of obesity. The eating disorder associated with PWS can be so severe as to be life threatening, including eating to the point of stomach rupture and death. Though a cluster of commonly covarying clinical features are exhibited by people with this syndrome, only the eating disorder is common to all affected individuals. PWS shares behavioral features with other disorders and disabilities, such as obsessive compulsive disorder and autism, but only PWS includes the unique combination of characteristics that distinguish this syndrome. Because eating disorders such as bulimia and anorexia nervosa also Requests for reprints should be sent to
Correlates of maladaptive behavior in children and adults with Prader-Willi syndrome
American Journal of Medical Genetics, 1995
Four features of maladaptive behavior were examined in 25 children and 61 adults with Prader-Willi syndrome: age, gender, I&, and the Body Mass Index (BMI). Among children, older subjects showed increased symptomatology relative to younger subjects, especially in depression and withdrawal. Among adults, maladaptive behaviors seem to show both steady and variable expressions, waxing and waning over time. Boys showed heightened depression relative to girls, findings which were not seen in the adults. No maladaptive behavior differences were found in high vs. low I& subjects. Thinner adults with lower BMIs had higher maladaptive behavior scores relative to heavier subjects, particularly in internal states involving distressful affect and problems with thinking. Several explanations of these counterintuitive BMI findings are discussed, as is the need for prospective research on maladaptive behavior in children and adults with this syndrome. 0 1995 Wiley-Liss, Inc.
Prader-Willi Syndrome: Medical Prevention and Behavioral Challenges
Child and Adolescent Psychiatric Clinics of North America, 2007
Prader-Willi syndrome (PWS), first described by Prader, Labhart, and Willi in 1956, is a genetic disorder caused by deletion or impaired expression of paternal genes in a critical area of chromosome 15. The incidence ranges from 1:10,000 to 1:20,000 births, with equal distribution in both sexes and all ethnic groups [1]. This neurogenetic multisystemic disorder is characterized by infantile hypotonia, mental retardation, feeding difficulty in infancy that evolves to an extreme drive to eat in childhood, dysmorphic features, short stature, hypogonadism, sleep apnea, diabetes, and severe maladaptive behaviors, including obsessive, compulsive, and oppositional behaviors. There is a widely accepted view that the neurologic underpinnings of PWS involve hypothalamic dysregulation; however, brain imaging techniques suggest that other brain regions are also involved [2,3]. We begin this article with a brief discussion of the genetic basis of PWS followed by a description of the characteristic medical features, the comorbidity associated with this syndrome, a review of endocrine abnormalities, and hormonal treatment. We present the profile of intellectual impairment and the characteristic pattern of maladaptive behavior, with emphasis on the psychiatric aspects of PWS, and conclude with a discussion of behavioral and institutional treatment issues.
Pediatrics, 2004
Objective. To determine whether phenotypic differences exist among individuals with Prader-Willi syndrome with either type I or type II deletions of chromosome 15 or maternal disomy 15 leading to a better understanding of cause and pathophysiology of this classical genetic syndrome. Methods. We analyzed clinical, anthropometric, and behavioral data in 12 individuals (5 men, 7 women; mean age: 25.9 ± 8.8 years) with PWS and a type I (TI) deletion, 14 individuals (6 men, 8 women; mean age: 19.6 ± 6.5 years) with PWS and a type II (TII) deletion, and 21 individuals (10 men, 11 women; mean age: 23.6 ± 9.2 years) with PWS and maternal disomy 15 (UPD). The deletion type was determined by genotyping of DNA markers between proximal chromosome 15 breakpoints BP1 and BP2. TI deletions are ∼500 kb larger than TII deletions. Several validated psychological and behavioral tests were used to assess phenotypic characteristics of individuals with PWS representing the 3 genetic subtypes. Results. Si...