Variability in Neuropsychological Phenotypes in Patients with 22Q11.2 Deletion Syndrome: Case Series

Abstract

ABSTRACT Children with 22q11.2 deletion syndrome (22q11.2DS) have diverse neurodevelopmental and mental health profiles involving cognitive impairments and behavioral symptomatology that evolve over the lifespan. 22q11.2DS is the second-most common cause of developmental delay in children. Frequent physical manifestations include impact to skeletal, cardiac, immunological, respiratory, renal, auditory, and gastrointestinal systems. Neuropsychological impact ranges from early developmental delay to learning disabilities to more global intellectual disability. This population is also at higher risk for psychiatric conditions including Attention Deficit Hyperactivity Disorder, Anxiety Disorder, Bipolar Disorder and early Schizophrenia. The present case series relays cross-sectional findings from a 3-year -old Black/Non-Hispanic male, a 5-year -old White/Hispanic/Latina female, and an 8-year -old White/Hispanic/Latina female, diagnosed with 22q11.2DS via whole exome sequencing. Based on the referral question, various components of intellectual, attention/executive, memory, language, visual-motor/fine-motor, academic, adaptive, and emotional/behavioral functioning were examined across cases. Results revealed cognitive scores that ranged from exceptionally low to below average, consistent with the variability in cognitive functioning documented in the literature. Their neurodevelopmental and mental health symptoms appear to be consistent with time points reported in the literature including Autism Spectrum Disorder in the youngest patient and elevated levels of anxiety and internalizing behaviors in the oldest patient, placing that patient at a greater risk for further psychiatric difficulties. Therefore, longitudinal documentation of linkages between clinical neuropsychological presentations and specific genetic characteristics in 22q11.2DS is warranted to identify consistent developmental differences across the lifespan.