From Genetics to Psychiatry: Long-Term Psychiatric Management of Williams Syndrome with a Rare Variant of Congenital Adrenal Hyperplasia
Year: 2025
Type: article
Study design: Case Report
Abstract: This case report presents a 19-year-old male with an exceptionally rare co-occurrence of Williams-Beuren Syndrome (WBS) and 17α-hydroxylase deficiency, a form of congenital adrenal hyperplasia (CAH). Diagnosed with CAH in infancy due to hypertension, hypokalaemia, and ambiguous genitalia, and later confirmed to have WBS via fluorescence in situ hybridization (FISH), the patient exhibited global developmental delays, intellectual disability, recurrent seizures, and poor medication adherence. Psychiatric referral at age 18 was prompted by escalating aggression, self-injurious behaviour, and functional decline. A multidisciplinary intervention was initiated, combining behavioural therapy based on the Antecedent-Behaviour-Consequence (ABC) framework, low-dose risperidone, psychoeducation for caregivers, and vocational rehabilitation. Over six months, the patient demonstrated marked improvement in aggression, seizure control, and compliance with daily routines. He remained seizure-free on sodium valproate and began contributing to household income through structured vocational engagement. This case underscores the importance of integrated psychiatric care in managing syndromic intellectual disability, particularly when compounded by rare endocrine disorders. The estimated statistical frequency of this genetic overlap is approximately 1 in 500 million, posing unique diagnostic and therapeutic challenges. The report highlights the need for early genetic evaluation, coordinated interdepartmental care, and family-centered interventions to optimize outcomes. It also emphasizes the utility of structured behavioural frameworks and low-dose antipsychotics in managing irritability and aggression in syndromic populations. In resource-limited settings, sustained caregiver involvement and interdisciplinary collaboration are critical to improving quality of life and long-term prognosis. This case advocates for enhanced training in syndromic psychiatry and integrated care models to address the complex needs of individuals with overlapping genetic and endocrine conditions.
Institution: ESIC Hospital
Language: English
Topic: Williams Syndrome Research
Subfield: Developmental Neuroscience
Field: Neuroscience
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W4417222837