A-157 G Syndrome in Adulthood: A Case Report

Abstract

Abstract Objective: FG syndrome is an X-linked recessive disorder (p.R961W MED12 mutation) affecting phenotypic males and is characterized by intellectual disability, multiple congenital anomalies, hypotonia, constipation, and hyperactivity. Existing literature about syndromic presentations in adulthood is limited. This case study presents an adult with FG syndrome. Method: Patient is a 39-year-old White cisgender male with FG syndrome and confirmed p.R961W mutation. Pertinent history includes agenesis of corpus callosum, moderate intellectual disability, communication disorder, Tourette’s syndrome, attention-deficit/hyperactivity disorder, obsessive-compulsive disorder, bipolar disorder not otherwise specified, and posttraumatic stress disorder. Previous neuropsychological assessments found a generalized pattern of impairment. In early adulthood, the patient’s motor skills deteriorated, and he was hospitalized for aggression. At age 37, the patient was “declining” despite a normal CT scan (except for agenesis of corpus callosum) and development of intermittent paranoia and auditory and visual hallucinations. Results: An interdisciplinary evaluation, performed via telehealth, was completed at an academic medical center. Cognitive changes were denied. Hyperactivity, angry outbursts, affability, and talkativeness were reported. Behavioral and psychiatric symptoms decreased since a change in residence and homecare providers. Conclusions: Little is known about adults with FG syndrome. This case suggests that the behavioral phenotype of FG syndrome remains consistent into adulthood. While cognitive changes were not evident, a decline in motor function and the development of psychotic symptoms did occur. This case increases awareness about FG syndrome in adulthood and can inform clinical practice. Adults with FG syndrome can achieve meaningful goals with proper support from community services, supervised living, and therapeutic interventions.