Epilepsy in children with Down syndrome.

Area of Science:

• Paediatric Neurology
• Genetics
• Epileptology

Background:

• Down syndrome (DS) is the most common genetic cause of intellectual disability.
• Epilepsy prevalence in DS ranges from 1-13%.
• Infantile spasms (IS), also known as West syndrome (WS), are the most frequent epilepsy syndrome in children with DS.

Purpose of the Study:

• To review epilepsy in Down syndrome from a paediatric neurology perspective.
• To discuss epilepsy syndromes, EEG characteristics, and treatment approaches in DS.
• To explore underlying mechanisms of epileptogenesis in DS.

Main Methods:

• Literature review of epilepsy in Down syndrome.
• Analysis of epilepsy syndromes, prevalence, and EEG findings.
• Discussion of therapeutic strategies and outcomes.

Main Results:

• Infantile spasms (IS) occur in 0.6-13% of children with DS, with unique EEG characteristics.
• DS patients with IS may have better seizure control than other symptomatic IS cases.
• Lennox-Gastaut syndrome (LGS) in DS presents with later onset and frequent reflex seizures.
• EEG abnormalities are common in DS, but not specific and do not correlate with outcome.
• Various cellular and molecular mechanisms contribute to epileptogenesis in DS.

Conclusions:

• Early and appropriate treatment initiation in DS patients with IS is crucial for seizure control and developmental prognosis.
• Despite varied therapeutic approaches, achieving remission in IS is possible.
• Further research into cellular and molecular mechanisms of epileptogenesis in DS is warranted.