Objective: The purpose of this study is to examine the neuropsychological profile of a youngster with Mowat-Wilson Syndrome (MWS), a rare genetic condition related to mutations in the ZEB2 gene. Less than 300 cases have been reported worldwide. MWS affects physical and cognitive development and results in structural abnormalities of the brain. The major features of MWS include cognitive impairment, expressive language deficits with relatively spared receptive skills, dysphagia, intestinal disorder (Hirschprungs Disease), seizures, and distinctive facial features. Method: This single-subject design examines a 6-year, 11-month-old Caucasian female referred for neuropsychological assessment secondary to significant neurodevelopmental delays related to MWS. Assessment included medical record review, parent interview, behavioral observations, and standardized testing. Results: Results of this assessment are consistent with an overarching diagnosis of Neurodevelopmental Disorder secondary to MWS. Assessment results indicated significant speech and language disorders, executive functioning impairments, deficits in fine motor and graphomotor skills, multiple learning disabilities,...

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