Risk factors for reading disability in families with rolandic epilepsy

Area of Science:

• Neuroscience
• Genetics
• Developmental Pediatrics

Background:

• Neurodevelopmental comorbidities, including reading disability (RD) and speech sound disorder (SSD), are common in childhood epilepsy, particularly rolandic epilepsy (RE).
• Known risk factors for RD in the general population include male sex, SSD, and attention-deficit/hyperactivity disorder (ADHD).
• It remains unclear if these risk factors apply to individuals with RE or if epilepsy-specific variables (seizure activity, antiepileptic drug treatment) contribute to RD risk.

Purpose of the Study:

• To investigate the risk factors for RD in probands with RE and their siblings.
• To determine if known risk factors for RD in the general population are also associated with RD in RE.
• To explore the potential role of seizure and antiepileptic drug treatment variables, as well as EEG findings, in the development of RD in RE.

Main Methods:

• An observational study involving 108 probands with RE and 159 siblings.
• Utilized a nested case-control design with multiple logistic regression and generalized estimating equations.
• Assessed associations between RD and clinical variables (sex, SSD, ADHD, seizure history, treatment) and EEG data (focal sharp waves).

Main Results:

• RD was present in 42% of probands and 22% of siblings.
• In probands, RD was significantly associated with a history of SSD (OR: 9.64), ADHD symptoms (OR: 10.31), and male sex (OR: 3.62).
• In siblings, RD was independently associated with SSD (OR: 4.30) but not with interictal EEG focal sharp waves.

Conclusions:

• The primary risk factors for RD in rolandic epilepsy are SSD, ADHD, and male sex, mirroring those in the general population.
• Seizure characteristics and antiepileptic drug treatments do not appear to be significant risk factors for RD in individuals with RE.
• Interictal EEG focal sharp waves were not found to be a risk factor for RD in siblings of probands with RE. Future research should focus on neuropsychological profiling and intervention effectiveness.