Abstract

The current case study focuses on a neurodevelopmental evaluation for a child with a complex medical history, suspected genetic disorder, and significant developmental delays within the context of cultural diversity, linguistic barriers, and interpretation services. Patient is a 4-year-old male of Oromo decent who is exposed to both Oromo and English. Medical background is significant for congenital glaucoma and global developmental delay. He is nonverbal and uses few gestures to communicate. He presented with spastic motor movements and dysmorphic facial features. There is no history of genetic testing nor consults with neurology. Developmentally appropriate measure of neurocognitive functioning was administered with the use of an Oromo interpreter. Results revealed impaired performance within the areas of cognition, language, and motor functioning. Cognitive abilities measured similar to a 26-month-old. The patient's social communication and emotional reciprocity varied; there was consideration of an autism spectrum disorder. Diagnostic challenges included medical complexity (i.e., vision differences with eye contact and visual referencing, motor functioning), unanswered diagnostic questions (i.e., underlying genetic or neurological condition), and cultural considerations. The evaluation yielded diagnoses of a global developmental delay and unspecified neurodevelopmental disorder. Recommendations included referrals to neurology, genetics, care coordination, and outpatient therapies. Given the complexity of phenotypical behavioral manifestations of genetic disorders and cultural differences in terms of appropriate social behaviors convolute behaviors observed during the evaluation. The case study brings to light the consideration of cultural differences when interpreting behaviors as well as the value of a multidisciplinary approach to neuropsychological evaluation for diagnostic clarification.

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