Table 1 Case example of PWS mUPD and ASD

BN, a 7-year-old boy with PWS associated with mUPD, lives at home with his parents, three siblings, and attends a regular elementary school. BN has low average cognitive abilities (FSIQ = 86), good health, and has been on growth hormone treatment for several years. Relative to others with PWS, BN has a low drive for food. His body mass index is in the average range. During his research visit, BN was extremely active and asked incessant questions about staff and the assessment procedures.

Standardized questionnaires and parental interviews raised strong suspicions of autism, and BN met cut-off criteria for ASD on the Autism Diagnostic Observation Schedule (ADOS Module 3); this diagnosis was confirmed after a review of his developmental and medical history. Key features on BN’s ADOS included stereotyped language and inability for reciprocal conversation, lack of friends, side object gazing, hand and finger mannerisms and unusual body posturing that increased when BN became excited. BN sniffed several test items and tended to ask the same question again and again, or to repeat odd phrases, e.g., a list of children at school, “the most beautiful thing” in response to pictures in the test materials. BN had to be redirected to complete many tasks and seemed to be easily distracted and overstimulated. He was somewhat concrete but oriented to place, person, and time.

BN’s parents conveyed many concerns regarding his poor interactions with classmates and his school performance in general. BN became easily overwhelmed with classroom activities and would either “shut down” or cry daily. Based on his ASD diagnosis, BN was assigned a classroom aide and, with this support, is now doing considerably better at school.