Integrated psychiatric management of Prader-Willi syndrome: a case report of disruptive mood dysregulation and ADHD

Prader-Willi syndrome (PWS) is a genetic disorder characterized by behavioral disturbances such as temper outbursts, impulsivity, aggression, and self-injury. Due to symptom overlap, psychiatric comorbidities including ADHD, obsessive-compulsive behaviors, and disruptive mood disorders are frequently underdiagnosed. These symptoms typically emerge early in life and persist into adulthood, contributing to caregiver burden and functional impairment. Neuroimaging studies reveal abnormalities in brain regions associated with emotional regulation and social behavior, while epigenetic research points to altered methylation patterns in genes which may contribute to behavioral dysregulation. Despite the significant impact of these symptoms, pharmacological management lacks standardization and relies largely on case-based evidence, highlighting the need for detailed clinical documentation to guide individualized care. A 19-year-old male with PWS presented with food preoccupation, anxiety, mood swings, social challenges, and aggression. Multiple failed medication preceded the eventual diagnosis of disruptive mood dysregulation disorder (DMDD) and ADHD. A revised treatment plan led to marked clinical improvement in emotional regulation and functioning. This case illustrates the complexity of diagnosing and treating psychiatric comorbidities in PWS, where overlapping symptoms can obscure accurate assessment and delay appropriate intervention. The absence of standardized guidelines and limited empirical data reflect a critical need for focused research to refine diagnostic criteria and develop effective, evidence-based therapies. Greater understanding of the psychiatric profile of PWS is essential for improving outcomes and quality of life in this vulnerable population.

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Publication Details

Journal
International Journal of Community Medicine and Public Health
Published
2025-06-30
DOI
https://doi.org/10.18203/2394-6040.ijcmph20252144
Primary Topic
Genetic Syndromes and Imprinting
Type
article
Field-Weighted Citation Impact
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article

Integrated psychiatric management of Prader-Willi syndrome: a case report of disruptive mood dysregulation and ADHD

Parinda Parikh, Shaurya K. Singh, Amanjot Singh, Alisha Arul Alphonse et al.
International Journal of Community Medicine and Public Health
Genetic Syndromes and Imprinting
article

Integrated psychiatric management of Prader-Willi syndrome: a case report of disruptive mood dysregulation and ADHD

Parinda Parikh, Shaurya K. Singh, Amanjot Singh, Alisha Arul Alphonse, Mina Oza, Himani J Suthar
article en

Abstract

Prader-Willi syndrome (PWS) is a genetic disorder characterized by behavioral disturbances such as temper outbursts, impulsivity, aggression, and self-injury. Due to symptom overlap, psychiatric comorbidities including ADHD, obsessive-compulsive behaviors, and disruptive mood disorders are frequently underdiagnosed. These symptoms typically emerge early in life and persist into adulthood, contributing to caregiver burden and functional impairment. Neuroimaging studies reveal abnormalities in brain regions associated with emotional regulation and social behavior, while epigenetic research points to altered methylation patterns in genes which may contribute to behavioral dysregulation. Despite the significant impact of these symptoms, pharmacological management lacks standardization and relies largely on case-based evidence, highlighting the need for detailed clinical documentation to guide individualized care. A 19-year-old male with PWS presented with food preoccupation, anxiety, mood swings, social challenges, and aggression. Multiple failed medication preceded the eventual diagnosis of disruptive mood dysregulation disorder (DMDD) and ADHD. A revised treatment plan led to marked clinical improvement in emotional regulation and functioning. This case illustrates the complexity of diagnosing and treating psychiatric comorbidities in PWS, where overlapping symptoms can obscure accurate assessment and delay appropriate intervention. The absence of standardized guidelines and limited empirical data reflect a critical need for focused research to refine diagnostic criteria and develop effective, evidence-based therapies. Greater understanding of the psychiatric profile of PWS is essential for improving outcomes and quality of life in this vulnerable population.

International Journal of Community Medicine and Public HealthVol. 12(7)
St. George's University (GD), Gandhi Medical College & Hospital (IN), Cornell University (US), Pravara Institute of Medical Sciences (IN), Burke Medical Research Institute (US), National Health Promotion Associates (US), Agartala Government Medical College (IN)
Openalex Percentile: Top 82%
Genetic Syndromes and Imprinting
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