Abstract
Prader–Willi syndrome (PWS) is well-known for its genetic and phenotypic complexities. Caused by a lack of paternally derived imprinted material on chromosome 15q11–q13, individuals with PWS have mild to moderate intellectual disabilities, repetitive and compulsive behaviors, skin picking, tantrums, irritability, hyperphagia, and increased risks of obesity. Many individuals also have co-occurring autism spectrum disorders (ASDs), psychosis, and mood disorders. Although the PWS 15q11–q13 region confers risks for autism, relatively few studies have assessed autism symptoms in PWS or directly compared social, behavioral, and cognitive functioning across groups with autism or PWS. This article identifies areas of phenotypic overlap and difference between PWS and ASD in core autism symptoms and in such comorbidities as psychiatric disorders, and dysregulated sleep and eating. Though future studies are needed, PWS provides a promising alternative lens into specific symptoms and comorbidities of autism.
Highlights
Prader–Willi syndrome (PWS) is well-known for its genetic and phenotypic complexities
While hyperphagia and skin picking are highly characteristic of PWS, compulsivity and tantrums are often seen in other developmental disabilities, including autism spectrum disorders
PWS is caused by a lack of paternally derived imprinted material on 15q11–q13, while Angelman syndrome (AS), its oppositely imprinted genetic “sister,” is caused by disruptions in the maternally expressed ubiquitin-protein ligase E3A (UBE3A) gene in this same 15q11–q13 region
Summary
Studies on psychopathology in PWS primarily report psychiatric diagnoses, yet these diagnoses are often problematic. Diagnostic conventions and practices differ across countries, disciplines, and classification systems, with diagnostic criteria in PWS studies ranging from International Classification of Diseases or Diagnostic and Statistical Manual of Mental Disorders, Fourth EditionRevised to screeners, checklists, parent reports, and symptoms in medical records. Due to their communicative or cognitive delays, reliable psychiatric diagnoses are difficult to establish in people with intellectual disabilities, including PWS (Dykens 2000). Studies are needed that move beyond psychiatric diagnoses and provide detailed characterizations of symptoms in PWS and the neural or physiologic processes associated with these symptoms.
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