Neuropsychiatric Manifestations of Tuberous Sclerosis and Management Options: A Narrative Review

Parul Gupta, MD; Mamidipalli Sai Spoorthy, MD; Pooja R. Raikar, MD, DPM

Prim Care Companion CNS Disord 2024;26(1):22nr03481

ABSTRACT

Importance: Tuberous sclerosis is an autosomal dominant genetic disorder that affects multiple organ systems and causes a wide range of physical manifestations. It commonly involves the brain, skin, heart, eyes, kidneys, and lungs. Individuals mostly present with neuropsychiatric symptoms, comprising a noteworthy source of morbidity and mortality.

Observation: Ninety percent of individuals with tuberous sclerosis have associated neuropsychiatric manifestations including attention-deficit/hyperactivity disorder, autism spectrum disorder, and intellectual disability, which are typically underidentified and undertreated.

Conclusion and Relevance: Lack of specific guidelines for management add to the significant burden of care. An individualized, multifaceted perspective, with particular focus on cognitive and psychosocial comorbidities, is key for managing tuberous sclerosis.

Prim Care Companion CNS Disord 2024;26(1):22nr03481

Author affiliations are listed at the end of this article.

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