期刊
JOURNAL OF NEURODEVELOPMENTAL DISORDERS
卷 3, 期 3, 页码 225-237出版社
BMC
DOI: 10.1007/s11689-011-9092-5
关键词
Prader-Willi syndrome; Chromosome 15q11-q13; Autism; Psychosis
资金
- NICHD Rare Disease Consortium [U54 HD061222]
- Vanderbilt CTSA (Vanderbilt Institute for Clinical and Translational Research)
- NICHD [R01HD035684, P30HD015052]
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.
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