Multiple causes of apnea in 1p36 deletion syndrome include seizures

INTRODUCTION Apneic episodes have not previously been described in children with 1p36 deletion syndrome with seizures. Having encountered one such patient, we reviewed our experience of breathing difficulties in this syndrome, with particular attention to evidence of ictal apnea. We describe four children with 1p36 deletion syndrome, seizures and apneic episodes. METHOD Retrospective analysis of clinical features, seizure semiology and video-EEG data. RESULTS All patients showed characteristic craniofacial features, mental retardation, and diffuse hypotonia and apnea. Seizure semiology included focal motor, ± secondary generalized tonic clonic and tonic events. All had histories of status epilepticus; three showed clustering of their habitual seizures. Assessment of apnea was complicated by the presence of multiple other potential causes including obesity, reflux, respiratory, and cardiac problems Epileptic apneas were confirmed in one child by video-telemetry. In three other children, an epileptic basis for apneas was inferred from their clinical histories and treatment response supported by EEG findings. In three children, epileptiform discharges occurred over fronto-centro-temporal regions. CONCLUSION Epileptic apnea is a feature of 1p36 deletion syndrome, though episodic apnea is multifactorial in these children, and may need repeated re-appraisal.