Behavioural and psychological characteristics in Pitt-Hopkins syndrome: a comparison with Angelman and Cornelia de Lange syndromes

Alice Watkins, Stacey Bissell, Jo Moss, Chris Oliver, Jill Clayton-Smith, Lorraine Haye, Mary Heald, Alice Welham
2019 Journal of Neurodevelopmental Disorders  
Pitt-Hopkins syndrome (PTHS) is a genetic neurodevelopmental disorder associated with intellectual disability. Although the genetic mechanisms underlying the disorder have been identified, description of its behavioural phenotype is in its infancy. In this study, reported behavioural and psychological characteristics of individuals with PTHS were investigated in comparison with the reported behaviour of age-matched individuals with Angelman syndrome (AS) and Cornelia de Lange syndrome (CdLS).
doi:10.1186/s11689-019-9282-0 pmid:31586495 pmcid:PMC6778364 fatcat:rpfo2gel7fhjdm7a6jo6xupl4y