B-52: Comorbidity of Shashi-Pena Syndrome and Autism Spectrum Disorder: A Case Report
Abstract
Objective: Shashi-Pena Syndrome (SPS) is a rare neurodevelopmental condition caused by a heterozygous mutation of the ASXL2 gene on chromosome 2p23. This condition is characterized by impaired intellectual development, facial dysmorphism, hypotonia, macrocephaly, and cerebral atrophy. Presently, only about 50-60 individuals have been diagnosed with SPS worldwide. As such, current literature on this condition, particularly regarding comorbidity of other neurodevelopmental disorders, ranges from limited to non-existent. Here, we discuss the case of a ten-year old male with SPS who, after a full neuropsychological assessment, received a preliminary diagnosis for autism spectrum disorder with accompanying cognitive impairment level III (DSM V - F84.0). Method/Data Selection: Clinical evaluation revealed a personal and developmental history of repetitive behaviors, restricted interests, atypical language, and weak social skills. Family history was marked for autism spectrum disorder. Results/Data Synthesis: Personal and developmental history were reinforced by both parent and teacher ratings on the Autism Spectrum Rating Scales (ASRS), for which scores were significant across domains. Moreover, behavioral observation noted speech abnormalities associated with autism, stereotyped use of phrases, and the presence of complex-mannerisms and ADOS-2 Module 3 administration revealed severe Autism scores. Full consideration of results revealed this individual as meeting clinical criteria for autism spectrum disorder with accompanying cognitive impairment level III Conclusions: This work serves as the first in current literature to discuss comorbidity of SPS and autism spectrum disorder. This not only contributes to the sparse literature surrounding the comorbidity of SPS and other neurodevelopmental conditions, but also highlights the importance of full neuropsychological and diagnostic assessment among individuals with complex genetic disorders.