Electroencephalographic patterns during sleep in children with chromosome 15q11.2-13.1 duplications (Dup15q)

Area of Science:

• Neurophysiology
• Genetics
• Pediatric Neurology

Background:

• 15q11-q13 duplication syndrome (Dup15q) is a genetic disorder associated with neurodevelopmental impairments.
• Understanding the electroencephalographic (EEG) features during sleep in these children is crucial for diagnosis and management.
• Previous research has not comprehensively detailed the sleep EEG patterns specific to Dup15q.

Purpose of the Study:

• To define and characterize the electroencephalographic (EEG) patterns observed during sleep in children diagnosed with 15q11-q13 duplication syndrome (Dup15q).
• To correlate specific EEG findings with clinical characteristics, including epilepsy and treatment resistance.

Main Methods:

• Retrospective review of continuous EEG recordings from 42 children with Dup15q (mean age 8 years).
• Analysis included background activity, interictal epileptiform discharges, sleep organization, and ictal activity.
• Identification and classification of distinct EEG patterns during sleep.

Main Results:

• Three predominant EEG patterns were identified in children with Dup15q.
• Pattern 1: Alpha-delta sleep (33%) without clear clinical correlation.
• Pattern 2: Electrical status epilepticus in sleep (CSWS) (35%), associated with treatment-resistant epilepsy and clinical seizures.
• Pattern 3: Frequent bifrontal paroxysmal fast activity (35%), also linked to treatment-resistant epilepsy.

Conclusions:

• This study is the first to report specific sleep EEG patterns in children with Dup15q, including alpha-delta rhythms, CSWS, and paroxysmal fast activity.
• The identified patterns, particularly CSWS and fast activity, are associated with treatment-resistant epilepsy in this cohort.
• Further research is needed to determine the long-term significance of these EEG findings on cognitive function and epilepsy management in children with Dup15q.