Pitt-Hopkins Syndrome: A Unique Case Study

• Main Authors: Edgar, V.B (Author), Goodspeed, K. (Author), Tan, A. (Author)
• Format: Article
• Language: English
• Published: Cambridge University Press 2018
• Subjects: adolescent; Adolescent; attention; Attention; Autism spectrum disorder; brain; Brain; case report; cognition; Cognition; Developmental delay; Developmental Disabilities; developmental disorder; diagnostic imaging; educational status; Educational Status; executive function; Executive Function; facies; Facies; Genetic; genetics; human; Humans; hyperventilation; Hyperventilation; Intellectual disability; Intellectual Disability; intellectual impairment; intelligence test; Intelligence Tests; male; Male; neuropsychological test; Neuropsychological Tests; Pediatric; Pitt-Hopkins; psychology; psychomotor performance; Psychomotor Performance
• Online Access: View Fulltext in Publisher

 Objectives: Pitt-Hopkins syndrome (PTHS) is a rare genetic disorder caused by insufficient expression of the TCF4 gene. Most cases are characterized by severe intellectual disability, absent speech, motor delays, and autism spectrum disorder. Many have abnormal brain imaging, dysmorphic facial features, and medical comorbidities: myopia, constipation, epilepsy, and apneic spells. The present case study expands existing understanding of this disorder by presenting a unique phenotype with higher cognitive abilities and fewer medical comorbidities. Methods: The present case study reports on a 13-year-old, Caucasian male with a recent diagnosis of PTHS following genetic testing (i.e., whole exome sequencing). He was referred for a neuropsychological evaluation to document his neurocognitive functioning to assist with intervention planning. Results: Evaluation of intellectual, attention/executive, memory, visual-motor/fine-motor, academic, adaptive, and emotional/behavioral functioning revealed global impairment across all areas of functioning. However, he demonstrated abilities beyond what has been detailed in the literature, including use of full sentences, capacity to learn and solve novel problems, basic academic functioning, and independent ambulation. Conclusions: Children with PTHS may demonstrate a spectrum of abilities beyond what has been documented in the literature thus far. Failure to recognize this spectrum can result in late identification of an accurate diagnosis. © 2018 The International Neuropsychological Society.