Neuropsychological Findings in Hamamy Syndrome: A Clinical Case Report

This study, reports for the first time, the neuropsychological profile of a child with Hamamy syndrome-a rare genetic disorder with only five published cases (Buget, Canbolat, Akgul, & Kucukay, 2015). The patient was seen for a neuropsychological evaluation at ages 6 and 7, at the American University of Beirut Medical Center. Procedures included an extended clinical interview with the parent, behavioral observations, formal tests, and a series of parental rating scales. Patient was found to have relatively spared nonverbal intelligence, borderline-impaired language, and clinically impaired verbal reasoning, attention, and motor coordination. Additionally, he showed clinically significant concerns with behavioral regulation, metacognition, attention-deficit, and hyperactivity/impulsivity. The patient was diagnosed with a DSM-V Language Disorder, Speech Sound Disorder, and Attention Deficit/Hyperactivity Disorder, combined presentation, in the context of low-average intelligence. At follow-up, the neuropsychological profile was consistent, albeit improvement was noted following pharmacotherapy. This is the first published report that describes the neuropsychological functions of Hamamy syndrome. We make recommendations for early identification of cognitive strengths and weaknesses, and interventions to address them. Future research should evaluate additional functions such as memory and social/emotional development. (JINS, 2019, 25, 336-342).