A-157 G Syndrome in Adulthood: A Case Report
نویسندگان
چکیده
Abstract Objective: FG syndrome is an X-linked recessive disorder (p.R961W MED12 mutation) affecting phenotypic males and characterized by intellectual disability, multiple congenital anomalies, hypotonia, constipation, hyperactivity. Existing literature about syndromic presentations in adulthood limited. This case study presents adult with syndrome. Method: Patient a 39-year-old White cisgender male confirmed p.R961W mutation. Pertinent history includes agenesis of corpus callosum, moderate communication disorder, Tourette’s syndrome, attention-deficit/hyperactivity obsessive-compulsive bipolar not otherwise specified, posttraumatic stress disorder. Previous neuropsychological assessments found generalized pattern impairment. In early adulthood, the patient’s motor skills deteriorated, he was hospitalized for aggression. At age 37, patient “declining” despite normal CT scan (except callosum) development intermittent paranoia auditory visual hallucinations. Results: An interdisciplinary evaluation, performed via telehealth, completed at academic medical center. Cognitive changes were denied. Hyperactivity, angry outbursts, affability, talkativeness reported. Behavioral psychiatric symptoms decreased since change residence homecare providers. Conclusions: Little known adults suggests that behavioral phenotype remains consistent into adulthood. While cognitive evident, decline function psychotic did occur. increases awareness can inform clinical practice. Adults achieve meaningful goals proper support from community services, supervised living, therapeutic interventions.
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ژورنال
عنوان ژورنال: Archives of Clinical Neuropsychology
سال: 2022
ISSN: ['1873-5843', '0887-6177']
DOI: https://doi.org/10.1093/arclin/acac060.157