The 22q13.3 deletion syndrome (22q13.3DS), also known as Phelan-McDermid Syndrome, is a rare genetic disorder caused by a microdeletion on chromosome 22 that includes hypotonia, severely impaired development of speech and language, autistic-like behavior, and minor dysmorphic features. The neurologic picture includes seizures. Many seizures are febrile and do not require medication; however, grand mal seizures, focal seizures, and absence seizures have been described. No characteristic EEG findings are associated with 22q13.3DS. We studied in a retrospective way the neurodevelopmental profile and the clinical features of 7 patients with 22q13.3DS. The results have been compared with the data of the literature. Also in absence of epilepsy, EEG abnormalities, especially during sleep, were found in 57% of the subjects. Hence, we consider rather useful to perform sleep EEG recording in patients with 22q13.3DS.
|Translated title of the contribution||The clinical and EEG pattern in the 22q13.3 deletion syndrome|
|Number of pages||7|
|Journal||Bollettino - Lega Italiana contro l'Epilessia|
|Publication status||Published - Apr 2013|
ASJC Scopus subject areas
- Clinical Neurology