In this study our purpose is describing in detail the clinical and instrumental features of three patients (both familial and sporadic) with mental retardation, speech delay, EEG abnormalities and mild facial dysmorphisms carrying microduplication at Xp11.22-11.23 that we previously described. Clinical and neurological examination, brain MRI, EEG and a neuropsychological assessment specific for language disturbances were performed. The patients had the following characteristics: mild dysmorphic facial features, mental retardation with a moderate-severe global language deterioration; wake and sleep EEG showing epileptiform discharges especially activated during sleep or ESES in younger case; negative brain MRI. In conclusion this microduplication determines a new syndrome characterized by EEG abnormalities (ESES in childhood) and a mental retardation mainly involving language function. Speech delay, without structural abnormalities in brain MRI, could be the result of ESES that disappeared in adulthood, or insufficient language development secondary to poor stimulation due to a social isolation in a child with MR. Then, an analysis of selected patients with MR, language delay and a peculiar EEG pattern will probably disclose additional cases of Xp11.22-11.23.
|Translated title of the contribution||Duplication (xp11.22-p11.23) associated with mental retardation, speech delay and EEG anomalies in males and females: Description of a new syndrome|
|Number of pages||3|
|Journal||Bollettino - Lega Italiana contro l'Epilessia|
|Publication status||Published - Apr 2011|
ASJC Scopus subject areas
- Clinical Neurology