A - 43 Neuropsychological Profile of MED13L Syndrome: a Rare Genetic Disorder

Objective This study examined the neuropsychological profile of a child with Mediator complex subunit 13-like gene (MED13L) syndrome, a rare developmental disorder (1 of 100,00). The MED13L gene provides protein instructions for control of cell growth and repression of cell cycle target genes. MED13L syndrome is known for intellectual disabilities, congenital heart defects, hypotonia, developmental delays, and distinctive facial features. Autism spectrum characteristics may be evident in children with MED13L. Method This single-subject design examines an 8-year-old, 2nd grade female referred for neuropsychological assessment secondary to significant neurodevelopmental delays related to MED13L syndrome. Assessment goals included identification of strengths and weakness, intervention guidance, educational planning, and family education. Results Results were consistent with a diagnosis of Autism Spectrum Disorder secondary to MED13L. Assessment results indicated intellectual impairment, language impairment, developmental coordination disorder, and restricted and repetitive behaviors. Strengths included social motivation to interact with others, a sense of humor and positive interpersonal relationships. Conclusion The subject’s profile revealed features consistent with literature regarding MED13L syndrome including autism spectrum features. However, notable exceptions were apparent such as preserved visuospatial skills, and preserved social motivation and social intent. This study illustrates the value of early neuropsychological assessment in identifying individual variances in rare genetic disorders and the role of testing in the development and implementation of interventions. The findings also raise research worthy interesting questions regarding the neural underpinnings of preserved social motivation, a desire for affiliation, and a pleasant disposition in genetic disorders such as Trisomy 21, Williams Syndrome, and the current presentation of MED13L.