Autism

Some recent studies have indicated that autistic-like characteristics may be more common in Prader-Willi syndrome. The core characteristics of Autism include the following:

• Differences in verbal and non-verbal social communication, such as body language or reciprocal conversations
• The presence of repetitive behaviours such as lining up toys or repeating words or phrases over and over (called echolalia)

 

It is very important to take the person’s level of intellectual disability into consideration when thinking about a diagnosis of Autism. This is particularly important for young children with Prader-Willi syndrome where it may become even more difficult to accurately assess the presence of Autistic characteristics.  This is because difficulties associated with having an intellectual disability can sometimes look similar to Autistic characteristics.

 

A study conducted by Dyckens et al. (2017) examined 146 individuals with Prader-Willi syndrome. The researchers found that 12% of the participants reached criteria for and autism diagnosis. Among those diagnosed with autism, 78% had a maternal uniparental disomy, which means both copies of chromosome 15 were inherited from the mother.