Psychotic disorders in Prader-Willi syndrome (original) (raw)
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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.
Psychiatric disorders in a cohort of individuals with Prader–Willi syndrome
European Psychiatry, 2017
Background:Psychiatric manifestations in Prader–Willi Syndrome (PWS) are common and often are the most debilitating problem in these individuals. We present an epidemiological nation-wide survey of psychiatric diagnoses in the PWS population, based on full-range psychiatric interviews.Methods:We studied the distribution of psychiatric diagnoses (as opposed to a symptom-based approach) in the Israel national cohort of adolescents and adults with PWS. There was a total of 53 (32 males) ages 12 years and older. All individuals and their caretakers were interviewed using standardized psychiatric questionnaires. Demographic and clinical variables, Clinical Global Impression (CGI) score, IQ, severity of hyperphagia and quality of life (QOL) were also assessed and correlations with NPD (number of psychiatric diagnoses) calculated.Results:An overwhelming majority (89%) of the study participants had at least one psychiatric diagnosis. The most common were disruptive behavior disorders (DBD) ...
Genes
Genetically determined neurodevelopmental syndromes are frequently associated with a particular developmental trajectory, and with a cognitive profile and increased propensity to specific mental and behavioural disorders that are particular to, but not necessarily unique to the syndrome. How should these mental and behavioural disorders best be conceptualised given that similar symptoms are included in the definition of different mental disorders as listed in DSM-5 and ICD-10? In addition, a different conceptual framework, that of applied behavioural analysis, has been used to inform interventions for what are termed ‘challenging behaviours’ in contrast to types of interventions for those conditions meeting diagnostic criteria for a ‘mental disorder’. These syndrome-specific developmental profiles and associated co-morbidities must be a direct or indirect consequence of the genetic abnormality associated with that syndrome, but the genetic loci associated with the syndrome may not b...
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.
PLoS ONE, 2013
Background and Objectives: Several studies have suggested a difference in clinical features of intellectual ability and psychiatric illness in the Prader-Willi syndrome (PWS) with the 15q11-q13 paternal deletion and maternal uniparental disomy (mUPD). Our objective was to appraise evidence on this association through a meta-analysis. Methods: The electronic records PubMed and EMBASE from 1956 to 2012 were extracted for meta-analysis. Metaanalyses were performed by using fixed effect model. Mean difference, odds ratio, and 95% confidence interval were calculated. Results: We retrieved a total of 744 PWS cases from 13 studies. These include 423 cases with paternal 15q11-q13 deletions and 318 cases of mUPD. Compare to the PWS cases with mUPD, PWS patients with the paternal 15q11-q13 deletion associated with significantly lower full scale IQ (FSIQ) [mean difference (MD),-2.69; 95%CI,-4.86 to-0.52; p=0.02] and verbal IQ (VIQ) (MD,-7.5; 95%CI,-9.75 to-5.26; p<0.00001) but higher performance IQ (PIQ) (MD, 4.02; 95%CI, 1.13 to 6.91; p=0.006). In contrast, PWS patients with mUPD are associated with significantly higher risk of psychiatric illness [odds rate (OR), 0.14; 95%CI, 0.08 to 0.23; p<0.00001] and higher risk of bipolar disorder (OR, 0.04; 95%CI, 0.01 to 0.23; p=0.0002). Conclusions: Significant different clinical features of cognitive development and psychiatric illness are associated with PWS with different molecular defects. These findings provide support for evidence based practice to evaluate and manage the PWS syndrome with different molecular defects.
Autistic-like symptomatology in Prader-Willi syndrome: a review of recent findings
Current psychiatry reports, 2007
Prader-Willi syndrome (PWS) is caused by either the structural loss of material or the absence of gene expression from the paternally inherited copy of chromosome 15 in the q11-q13 region. In addition to a well-described behavioral phenotype that includes hyperphagia, obsessive-compulsive symptoms, disruptive behavior, and an increased risk for mood disorders, recent evidence also suggests that some individuals with PWS have repetitive behavior and social deficits reminiscent of autism spectrum disorders. In particular, it appears as if those with maternal uniparental disomy (UPD) as the cause of PWS are at greater risk for autistic symptomatology than those with paternal deletions of 15q11-q13. These findings are particularly intriguing in light of data implicating maternal duplications and triplications of the same chromosomal interval in idiopathic autism, as well as evidence that functional alterations of genes in this region are associated with social deficits found in a variet...
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...
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.
Epilepsy in Prader–Willi syndrome: Clinical characteristics and correlation to genotype
Epilepsy & Behavior, 2010
Prader-Willi syndrome (PWS) is a genomic imprinting disease secondary to the loss of a functional paternal copy of 15q11-q13. Unlike its related imprinting disorder, Angelman syndrome, PWS has not been regarded as a risk factor for epilepsy. A retrospective analysis of 92 patients with PWS identified 24 (26%) with seizures. Twenty-two of these (92%) were affected by focal epilepsy and only two (8%) had generalized epilepsy. The most common seizure type was staring spells (67%). Correlation to genotype analysis showed deletions were more common in patients with epilepsy than in patients without epilepsy. The epilepsy syndromes were easy to control with a single antiepileptic drug in most cases. Three patients (11%) had had febrile seizures. These findings suggest that PWS may be a risk factor for epilepsy, which can manifest with focal features. Patients with PWS with a deletion genotype showed a trend toward developing seizures compared with patients with other genotypes in our series, even though this difference did not achieve statistical significance.