All ETDs from UAB

Advisory Committee Chair

Sarah O'Kelley

Advisory Committee Members

Edwin W Cook III

Kristi C Guest

Cassandra Newsom

Alan Percy

Document Type


Date of Award


Degree Name by School

Doctor of Philosophy (PhD) College of Arts and Sciences


Pitt Hopkins Syndrome (PTHS) is an extremely rare genetic disorder which has been described as closely associated with autism spectrum disorder (ASD). While individuals with PTHS have been observed to exhibit symptoms that closely mirror ASD (de Winter et al., 2016; van Balkom et al., 2012; de Pontual et al., 2009; Sweatt, 2013), there have been few studies which have specifically examined ASD-like symptomatology in this population. The current study aims to build understanding regarding the developmental and ASD-specific profile of individuals with PTHS using in-person, observational and elicited standardized assessment measures. Participants included 10 individuals with PTHS aged 2-12 years and their parent/caregiver(s). Parents participated in a phone interview, completed standardized questionnaires (e.g., Repetitive Behavior Scale- Revised, MacArthur Bates Communicative Development Inventory) and engaged in an interview regarding ASD symptoms (i.e., Autism Diagnostic Interview-Revised). Participants with PTHS engaged in standardized assessments to assess developmental and ASD-specific phenotype (e.g., Autism Diagnostic Observation Schedule, Second Edition, Bayley Scales of Infant Development, Fourth Edition). Results demonstrated variability between ASD-related measures in rates of classification of ASD, with clinical consensus diagnosis of ASD being determined in only 20% of individuals. The diagnostic process iv was made more challenging by the degree of symptom burden (e.g., intellectual disability, substantial motor and language delays) in the population, among other factors. Unique profiles of behaviors associated with ASD were also observed (e.g., high rates of stereotyped behavior, very low rates of insistence on sameness and restricted behaviors). This study provides information to inform diagnosis and treatment of PTHS, allowing individuals with a comorbid diagnosis of ASD to be identified and receive earlier access to crucial specialized intervention techniques known to be important for ASD long-term functioning.

Available for download on Sunday, December 22, 2024