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.
| Published in | American Journal of Psychiatry and Neuroscience (Volume 13, Issue 4) |
| DOI | 10.11648/j.ajpn.20251304.13 |
| Page(s) | 132-137 |
| Creative Commons |
This is an Open Access article, distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium or format, provided the original work is properly cited. |
| Copyright |
Copyright © The Author(s), 2025. Published by Science Publishing Group |
Williams-Beuren Syndrome, 17α-hydroxylase Deficiency, Congenital Adrenal Hyperplasia, Intellectual Disability, Behavioural Therapy, Risperidone, Multidisciplinary Care, ABC Model
| [1] | Kozel BA, Barak B, Kim CA, Mervis CB, Osborne LR, Porter M, et al. Williams syndrome. Nat Rev Dis Primers 2021; 7: 42. |
| [2] | Honjo RS, Dutra RL, Furusawa EA, Zanardo EA, Costa LS de A, Kulikowski LD, et al. Williams-Beuren Syndrome: A Clinical Study of 55 Brazilian Patients and the Diagnostic Use of MLPA. Biomed Res Int 2015; 2015: 903175. |
| [3] | Howlin P, Udwin O. Outcome in adult life for people with Williams syndrome-- results from a survey of 239 families. J Intellect Disabil Res 2006; 50: 151–60. |
| [4] | Morris CA. Williams Syndrome. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews®, Seattle (WA): University of Washington, Seattle; 1993. |
| [5] | Chormanski D, Sharma L, Muzio MR. 17-Hydroxylase Deficiency. StatPearls, Treasure Island (FL): StatPearls Publishing; 2025. |
| [6] | Wong S-L, Shu S-G, Tsai C-R. Seventeen alpha-hydroxylase deficiency. J Formos Med Assoc 2006; 105: 177–81. |
| [7] | Zhou Y, Xue X, Shi P, Lu Q, Lv S. Multidisciplinary team management of 46, XY 17α-hydroxylase deficiency: a case report and literature review. J Int Med Res 2021; 49: 300060521993965. |
| [8] | Lineberry S, Bogenschutz M, Broda M, Dinora P, Prohn S, West A. Co-Occurring Mental Illness and Behavioral Support Needs in Adults with Intellectual and Developmental Disabilities. Community Ment Health J 2023; 59: 1119–28. |
| [9] | Martens MA, Wilson SJ, Reutens DC. Research Review: Williams syndrome: a critical review of the cognitive, behavioral, and neuroanatomical phenotype. J Child Psychol Psychiatry 2008; 49: 576–608. |
| [10] | Joo EY, Yoo MJ, Kim SJ, Jang W, Lee J-E. Case report: Development of central precocious puberty in a girl with late-diagnosed simple virilizing congenital adrenal hyperplasia complicated with Williams syndrome. Front Endocrinol (Lausanne) 2024; 15: 1352552. |
| [11] | Stinton C, Elison S, Howlin P. Mental health problems in adults with Williams syndrome. Am J Intellect Dev Disabil 2010; 115: 3–18. |
| [12] | Schützwohl M, Koch A, Koslowski N, Puschner B, Voß E, Salize HJ, et al. Mental illness, problem behaviour, needs and service use in adults with intellectual disability. Soc Psychiatry Psychiatr Epidemiol 2016; 51: 767–76. |
| [13] | Mestre TD, Lopes MJ, Mestre DM, Ferreira RF, Costa AP, Caldeira EV. Impact of family-centered care in families with children with intellectual disability: A systematic review. Heliyon 2024; 10: e28241. |
| [14] | Van Bellinghen M, De Troch C. Risperidone in the treatment of behavioral disturbances in children and adolescents with borderline intellectual functioning: a double-blind, placebo-controlled pilot trial. J Child Adolesc Psychopharmacol 2001; 11: 5–13. |
| [15] | Gading IK, Hassan S, Abu Bakar AY, Rismawan S. Solution-focused brief counseling and ABC manipulation technique in self-control training to reduce aggressive behaviour. Jurnal Cakrawala Pendidikan 2021; 40: 670–712. |
| [16] | Kalvin CB, Zhong J, Rutten MR, Ibrahim K, Sukhodolsky DG. Review: Evidence-Based Psychosocial Treatments for Childhood Irritability and Aggressive Behavior. JAACAP Open 2025; 3: 14–28. |
APA Style
Banu, F., Veeramani, M., Ajith, A., Unnikrishnan, S. (2025). From Genetics to Psychiatry: Long-Term Psychiatric Management of Williams Syndrome with a Rare Variant of Congenital Adrenal Hyperplasia. American Journal of Psychiatry and Neuroscience, 13(4), 132-137. https://doi.org/10.11648/j.ajpn.20251304.13
ACS Style
Banu, F.; Veeramani, M.; Ajith, A.; Unnikrishnan, S. From Genetics to Psychiatry: Long-Term Psychiatric Management of Williams Syndrome with a Rare Variant of Congenital Adrenal Hyperplasia. Am. J. Psychiatry Neurosci. 2025, 13(4), 132-137. doi: 10.11648/j.ajpn.20251304.13
Share This Article
Twitter
Linked In
Facebook
Copy
Download@article{10.11648/j.ajpn.20251304.13,
author = {Farsana Banu and Murugavel Veeramani and Akshay Ajith and Syam Unnikrishnan},
title = {From Genetics to Psychiatry: Long-Term Psychiatric Management of Williams Syndrome with a Rare Variant of Congenital Adrenal Hyperplasia},
journal = {American Journal of Psychiatry and Neuroscience},
volume = {13},
number = {4},
pages = {132-137},
doi = {10.11648/j.ajpn.20251304.13},
url = {https://doi.org/10.11648/j.ajpn.20251304.13},
eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.ajpn.20251304.13},
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.},
year = {2025}
}
TY - JOUR T1 - From Genetics to Psychiatry: Long-Term Psychiatric Management of Williams Syndrome with a Rare Variant of Congenital Adrenal Hyperplasia AU - Farsana Banu AU - Murugavel Veeramani AU - Akshay Ajith AU - Syam Unnikrishnan Y1 - 2025/12/09 PY - 2025 N1 - https://doi.org/10.11648/j.ajpn.20251304.13 DO - 10.11648/j.ajpn.20251304.13 T2 - American Journal of Psychiatry and Neuroscience JF - American Journal of Psychiatry and Neuroscience JO - American Journal of Psychiatry and Neuroscience SP - 132 EP - 137 PB - Science Publishing Group SN - 2330-426X UR - https://doi.org/10.11648/j.ajpn.20251304.13 AB - 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. VL - 13 IS - 4 ER -
Department of Psychiatry, ESIC Medical College and Hospital, Chennai, India
Department of Psychiatry, ESIC Medical College and Hospital, Chennai, India
Department of Psychiatry, ESIC Medical College and Hospital, Chennai, India
Department of Psychiatry, ESIC Medical College and Hospital, Chennai, India
Information