ANXIETY DISORDERS IN 1P36 DELETION SYNDROME: A CASE REPORT AND A CALL FOR COMPREHENSIVE PSYCHIATRIC SCREENING

Introduction: 1p36 deletion syndrome is one of the most common terminal deletion syndromes, and is often characterized by intellectual disability, global developmental delays, medical comorbidities, craniofacial dysmorphism, and behavioral abnormalities. However, psychiatric comorbidities remain underreported despite their deleterious impact on quality of life. This case report documents the manifestation of anxiety disorders in an individual with a known history of 1p36 deletion syndrome and emphasizes the need for comprehensive psychiatric screening in this population. Case Description: This report describes a 16-year-old female with a confirmed diagnosis of 1p36 deletion syndrome, who presented with pervasive and persistent anxiety symptoms, consistent with generalized anxiety disorder, social anxiety, and performance anxiety, alongside sleep disturbances, behavioral rigidity, and executive dysfunction. Developmental history elicited global delays, moderate intellectual disability, and deficits in language and comprehension. Standardized measures confirmed the underlying anxiety disorders and comorbid ADHD, highlighting an underrecognized psychiatric phenotype within this syndrome. Discussion: Thecase underscores the need for comprehensive psychiatric assessment in individuals with rare genetic syndromes and addresses a gap in the literature regarding anxiety disorders in 1p36 deletion syndrome. While further research is needed to understand the prevalence and management of these psychiatric comorbidities, early intervention and adopting a multifaceted therapeutic approach are paramount to mitigate the adverse psychosocial burden.

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Publication Details

Journal
International Journal of Advanced Research
Published
2024-12-31
DOI
https://doi.org/10.21474/ijar01/20021
Primary Topic
Sexual Differentiation and Disorders
Type
article
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article

ANXIETY DISORDERS IN 1P36 DELETION SYNDROME: A CASE REPORT AND A CALL FOR COMPREHENSIVE PSYCHIATRIC SCREENING

Parinda Parikh, Kanuja Sood, Ashish Chandra, J.J. Parmar
International Journal of Advanced Research
Sexual Differentiation and Disorders
article

ANXIETY DISORDERS IN 1P36 DELETION SYNDROME: A CASE REPORT AND A CALL FOR COMPREHENSIVE PSYCHIATRIC SCREENING

Parinda Parikh, Kanuja Sood, Ashish Chandra, J.J. Parmar
article en

Abstract

Introduction: 1p36 deletion syndrome is one of the most common terminal deletion syndromes, and is often characterized by intellectual disability, global developmental delays, medical comorbidities, craniofacial dysmorphism, and behavioral abnormalities. However, psychiatric comorbidities remain underreported despite their deleterious impact on quality of life. This case report documents the manifestation of anxiety disorders in an individual with a known history of 1p36 deletion syndrome and emphasizes the need for comprehensive psychiatric screening in this population. Case Description: This report describes a 16-year-old female with a confirmed diagnosis of 1p36 deletion syndrome, who presented with pervasive and persistent anxiety symptoms, consistent with generalized anxiety disorder, social anxiety, and performance anxiety, alongside sleep disturbances, behavioral rigidity, and executive dysfunction. Developmental history elicited global delays, moderate intellectual disability, and deficits in language and comprehension. Standardized measures confirmed the underlying anxiety disorders and comorbid ADHD, highlighting an underrecognized psychiatric phenotype within this syndrome. Discussion: Thecase underscores the need for comprehensive psychiatric assessment in individuals with rare genetic syndromes and addresses a gap in the literature regarding anxiety disorders in 1p36 deletion syndrome. While further research is needed to understand the prevalence and management of these psychiatric comorbidities, early intervention and adopting a multifaceted therapeutic approach are paramount to mitigate the adverse psychosocial burden.

International Journal of Advanced ResearchVol. 12(12)
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Sexual Differentiation and Disorders
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