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Seizures in fragile X syndrome: characteristics and comorbid diagnoses

Elizabeth Berry-Kravis1, Melissa Raspa, Lisa Loggin-Hester

  • 1Rush University Medical Center, Chicago, IL, USA. Elizabeth_M_Berry-Kravis@rush.edu

American Journal on Intellectual and Developmental Disabilities
|October 16, 2010
PubMed

Insights

Seizures affect 14% of males and 6% of females with fragile X syndrome, often presenting as partial and treatable. These seizures are linked to developmental and behavioral issues impacting overall function.

Area of Science:

  • Neurology
  • Genetics
  • Developmental Pediatrics

Background:

  • Fragile X syndrome (FXS) is a genetic disorder associated with various medical comorbidities.
  • Epilepsy is a recognized co-occurring condition in individuals with FXS, but its characteristics and impact require further elucidation.

Purpose of the Study:

  • To characterize the prevalence, clinical features, and co-occurring conditions associated with seizures in a large cohort of individuals with fragile X syndrome.
  • To investigate the relationship between seizures and other developmental-behavioral comorbidities in FXS.

Main Methods:

  • A national survey of caregivers of 1,394 individuals (1,090 males, 304 females) with the full mutation of fragile X syndrome.
  • Analysis of medical chart data from a large clinic cohort of patients with FXS for comparison.
  • Statistical analysis to identify associations between seizures and co-occurring conditions like autism.

Main Results:

  • 14% of males and 6% of females with FXS reported seizures.
  • Seizures were predominantly partial, typically starting between ages 4-10 years, infrequent, and generally responsive to medication.
  • Autism was significantly associated with seizures as a co-occurring condition in the national survey data.

Conclusions:

  • Seizures in fragile X syndrome, while often not severe, are associated with significant developmental-behavioral comorbidities.
  • Understanding these seizure characteristics and their impact is crucial for comprehensive management and improving functional outcomes in individuals with FXS.

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