B-33: Joubert Syndrome and Autism Spectrum Disorder: A Rare Case Study

Abstract

Objective: In this case study, we intend to examine the clinical overlap of two different neurodevelopmental disorders provided to an individual with clear neurocognitive and behavioral symptomology in an adult patient. While the extent literature indicates potential overlap of Joubert Syndrome (JS) and Autism Spectrum Disorder (ASD), very few studies focus on true comorbidity. Method/Data Selection: Intellectual and cognitive data were collected via a neuropsychological battery. Neurodevelopmental/background history was also obtained during a clinical interview with biological parents (confirming previous diagnoses of JS and ASD). Results/Data Synthesis: On examination, the patient was found to be functioning in the borderline range of general intellectual ability, with statistically equivalent verbal and visual-nonverbal intellectual functions. Similar findings were also noted within the domains of processing speed and working memory. On more focused neurocognitive assessment, multiple deficits were displayed, involving prominent attentional/executive dysfunction, likely impacting anterograde memory. Visuoperceptual/constructional difficulty and selective deficiency in the area of language were also likely influenced, in part, by attentional/executive factors. With regard to emotional functionality, “mild” depression and “moderate” anxiety were endorsed across administered self-report measures. Conclusions: The link between JS and ASD has been considered but is not well established. While JS is defined by its known cerebellar malformation, ASD remains ambiguous with regard to neurophysiological etiology. Given the strong association between disorders, and the current case study, the comorbidity may ultimately be more common than previously believed. Related research is thus warranted to further understand the rate of occurrence and related clinical presentation.