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A-264 Neurodevelopmental Disorder associated with 8p23.1 Microdeletion Syndrome: A Pediatric Case Study


 Objective: 8p23.1 microdeletion syndrome is a rare genetic disorder involving a partial deletion of chromosome 8. Children with this microdeletion are at increased risk for prenatal growth deficiency, congenital heart defects, craniofacial abnormalities, seizures, intellectual deficits, language impairments, motor deficits, and behavioral disorders which emphasizes the need for comprehensive neuropsychological assessment and intervention for these individuals.
 Method: This case study presents on the neuropsychological profile of a 9-year-old female with 8p23.1 microdeletion syndrome who had a history of absence seizures, heart valve disease, microcephaly, and developmental delays. The patient previously underwent psychological testing at age 8 and the findings revealed deficits in attention and intellectual functioning; however, her parents now had concerns for her social functioning.
 Results: Neuropsychological testing showed broad impairments in intellectual functioning, adaptive functioning, language, academic achievement, attention, executive functioning, memory, visuomotor skills, and social cognition.
 Conclusions: Recommendations were made to modify the patient’s special education academic goals, initiate various interventional services at school (e.g., speech therapy, occupational therapy, and social work), and start private ABA therapy. Continued monitoring and medication management with neurology and psychiatry were recommended as well given the patient’s history of absence seizures and problems with attentional-behavioral regulation. This case demonstrates the importance of comprehensive neuropsychological evaluation and treatment of children with certain rare genetic disorders such as 8p23.1 microdeletion syndrome in order to help improve neurodevelopmental outcomes in these patients.