Merlin G. Butler

This study examines the association between genetic subtypes and growth hormone treatment with behavioral disorders in Prader-Willi syndrome patients, finding no significant differences in ASD prevalence across genetic groups or treatment.

Four mitochondrial functional tests in fibroblasts show good sensitivity and excellent specificity for diagnosing primary mitochondrial disease.

This study evaluates sleep disturbances in children with Rett, Angelman, and Prader-Willi syndromes compared to typically developing controls, identifying common sleep issues and their associations.