Unilateral Rhythmic Hand Tapping in Rett Syndrome

Abstract

Rett syndrome is a severe neurodevelopmental disorder, with hand stereotypies as a hallmark of the disease. Epilepsy is a frequent comorbidity and is accompanied by centrotemporal spikes on electroencephalogram, but stereotypic movements should not have epileptiform correlates. During routine video-electroencephalographic investigation in 5 Rett syndrome patients, we identified a peculiar type of unilateral, highly rhythmic hand tapping accompanied by contralateral synchronous centrotemporal spikes on electroencephalography. This phenomenon is not consistent with either reflex seizures or hand stereotypies and does not respond to antiepileptic drugs. The electroencephalographic activity probably represents evoked potentials, either somatosensory or motor, whereas the rhythmic activity raises the possibility of a subcortical pacemaker for a stereotypy variant. The phenomenon could be caused by abnormal circuitry among the hyperexcitable somatosensory cortex, motor cortex, and subcortical areas in Rett syndrome. Clinicians should be aware of the nonepileptic nature of this motor behavior and should not attempt to treat it.