Abstract
Prader-Willi syndrome (PWS), a rare genetic disorder caused by the lack of expression of paternal genes from chromosome 15q11-13, has been investigated for autism spectrum disorder (ASD) symptomatology in various studies. However, previous findings have been variable, and no studies investigating ASD symptomatology in PWS have exclusively studied children. We aimed to characterize social communication functioning and other ASD-related symptoms in children with PWS, and assessed agreement across measures and rates of ASD diagnosis. Measures included the Autism Diagnostic Observation Schedule-2 (ADOS-2), the Social Communication Questionnaire (SCQ), Social Responsiveness Scale-2 (SRS-2), Social Skills Improvement System-Rating Scales (SSIS-RS), and the Vineland Adaptive Behavioral Scales-II (VABS-II). General adaptive and intellectual skills were also assessed. Clinical best estimate (CBE) diagnosis was determined by an experienced developmental pediatrician, based on history and review of all available study measures, and taking into account overall developmental level. Participants included 10 children with PWS, aged 3 to 12 years. Three of the 10 children were male and genetic subtypes were two deletion (DEL) and eight uniparental disomy (UPD) (with a total of 6 female UPD cases). Although 8 of the 10 children exceeded cut-offs on at least one of the ASD assessments, agreement between parent questionnaires (SCQ, SRS-2, SSIS-RS) and observational assessment (ADOS-2) was very poor. None of the children were assigned a CBE diagnosis of ASD, with the caveat that the risk may have been lower because of the predominance of girls in the sample. The lack of agreement between the assessments emphasizes the complexity of interpreting ASD symptom measures in children with PWS.
Highlights
Prader-Willi syndrome (PWS) is a genetic disorder caused by the absence of expression of the paternal contribution of chromosome 15q11-13
The PWS phenotype overlaps to some degree with autism spectrum disorder (ASD), a neurodevelopmental disorder characterized by the presence of symptoms in two core domains: social communication impairment and restricted and repetitive behaviors and interests
To receive an ASD diagnosis, symptoms in both domains must be present during the early developmental period; they may not be fully recognized until a child is older and social demands exceed their capacity [1]
Summary
Prader-Willi syndrome (PWS) is a genetic disorder caused by the absence of expression of the paternal contribution of chromosome 15q11-13. ASD in the UPD genetic subtype (35.3%; two maternal copies of chromosome 15 present) is almost twice as common as in the DEL subtype (18.3%) [3]. This may be partially due to a genetic finding that overexpression of chromosome 15 is associated with higher rates of ASD [4]. To receive an ASD diagnosis, symptoms in both domains must be present during the early developmental period; they may not be fully recognized until a child is older and social demands exceed their capacity [1]. Earlier recognition of ASD is important as studies have demonstrated that early intervention for ASD yields more favorable outcomes [8]
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