Epilepsy and TSC-Associated Neuropsychiatric Disorders

Capal, Jamie K.

doi:10.15844/pedneurbriefs-34-11

Cited by 1 publication

(1 citation statement)

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“…The mutation in TSC2 was associated with a higher incidence of intellectual disability and autism spectrum disorders. 35,36 Epilepsy, epileptic spasms, and TSC2 mutations were risk factors for the development of ASD in TSC patients, according to one study. 21 TAND was detected in 66.7%, 73.9%, and 67.6% of TSC1 patients, TSC2 patients, and DRE patients, respectively.…”

Section: Methods Study Design Setting and Sample Sizementioning

confidence: 99%

Review of the spectrum of tuberous sclerosis complex: The Saudi Arabian Experience

Almuqbil,

Aldoohan,

Alhinti

et al. 2024

NSJ

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Objectives: To determine the prevalence of tuberous sclerosis complex )TSC( in the paediatric Saudi population and to characterise the range of clinical symptoms, neurocutaneous findings, neuroimaging results, and complications of the disease. Methods:A total of 61 genetically confirmed TSC patients from the National Guard Health Affairs )NGHA( in Saudi Arabia were the subject of this retrospective descriptive analysis. The data were presented using descriptive measures. Results:The mean age at diagnosis was found to be 4.9 years. Subependymal nodules )86.9%(, numerous cortical tubers and/or radial migration lines )63.9%(, and hypomelanotic macules )63.9%( were the 3 most common significant criteria. The vast majority )86.9%( of those diagnosed had epilepsy, of which 50% were considered medically intractable. Nearly half of our subjects underwent genetic testing, which revealed that TSC2 predominated over TSC1. Symptoms of Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders )TAND( were present in 66.7% of TSC1 patients and 73.9% of TSC2 patients. Conclusion:The findings of this study demonstrate that the clinical spectrum of TSC among Saudi children is consistent with the body of existing literature. The TSC2 was more prevalent than TSC1. The most frequent signs were cutaneous and neurological. Monitoring TSC patients regularly is crucial to identify any issues as soon as possible.

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Section: Methods Study Design Setting and Sample Sizementioning

confidence: 99%