A neurocognitive endophenotype associated with rolandic epilepsy

Epilepsia. 2012 Apr;53(4):705-11. doi: 10.1111/j.1528-1167.2011.03371.x. Epub 2012 Jan 5.


Purpose: Children with rolandic epilepsy (RE) experience difficulties with reading, language, and attention. Their siblings are at high risk of dyslexia but are not otherwise known to have neurocognitive deficits. We therefore sought evidence for an RE-associated neurocognitive endophenotype.

Methods: Thirteen probands (male-to-female ratio 9:4) and 11 epilepsy-free siblings (male-to-female ratio 5:6) completed a neurocognitive evaluation within the domains of reading, language, and attention. Frequencies of impairment were compared, and mean standardized scores of children with RE and their siblings were each compared against population means.

Key findings: Frequency of impairment in each domain was comparable for siblings and probands: 9% of siblings and 31% of probands were reading impaired; 36% of siblings and 54% of probands were language impaired; and 70% of siblings and 67% of probands had attention impairments. Comparison of differences between sample and population means revealed evidence of a similar pattern of language deficits in both groups, specifically for picture naming and attention to competing words. For measures of attention, both groups made significantly higher omission errors and were impaired in their ability to sustain attention.

Significance: Children with RE and unaffected siblings demonstrate neurocognitive impairments in the domains of language and attention that are likely to remain undetected with general clinical protocols. Neurocognitively impaired probands and siblings showed a remarkably similar profile of deficits in language and attention that could explain poor academic performance. Early evaluation and intervention may benefit these children academically.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Child
  • Cognition Disorders / etiology*
  • Cognition Disorders / genetics
  • Developmental Disabilities / etiology*
  • Endophenotypes*
  • Epilepsy, Rolandic / complications*
  • Epilepsy, Rolandic / genetics
  • Family Health
  • Female
  • Humans
  • Male
  • Neuropsychological Tests