Prader–Willi syndrome and autism spectrum disorders: an evolving story

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.

Cross-Disorder Comparison of Four Neuropsychiatric CNV Loci

“…As the individual enters early childhood, the failure to thrive is replaced by hyperphagia (excessive eating) that results in severe obesity [44]. In addition, these individuals have a distinct behavioral phenotype characterized by repetitive and stereotyped behaviors; up to 35 % of them receive a diagnosis of ASD [45]. The association with 15q11.2-13.1 was identified through high-resolution karyotype analysis [46] and the RNA processing gene SNURF-SNRPN or proximal small nucleolar RNAs (snoRNAs) are implicated in many symptoms [47].…”

Parental Ratings of Children and Adolescents With Prader-Willi Syndrome on the Behavior Rating Inventory of Executive Function (BRIEF)

“…Furthermore, the relationship between intelligence, age, and EF is unclear and none of the studies completed to date have reported on subtype difference in EF abilities among children with PWS. Lastly, research is emerging on the common characteristics between PWS and autism (Dykens, Lee & Roof, 2011), but comparisons on EF have yet to be completed between PWS and other clinical groups.…”

Advances in Autism Research – The Genomic Basis of ASD

“…In addition, congenital abnormalities are often observed, including hypogonadism, facial dysmorphism, and small hands and feet, among others. PWS can also be associated with psychosis, mood disorders, and ASD [61].…”