Abstracts

Rationale: Array comparative genomic hybridization (aCGH) is nowadays a basic diagnostic tool for clinical diagnosis of several types of developmental delays, intellectual disabilities, and congenital abnormalities. Epilepsy is also enjoying several advantages from the use of this technology that significantly improves diagnostic resolution of classic cytogenetics. The aim of this study is to analyze the clinical features and EEG findings of pediatric patients with microchromosomal disorders and epilepsy by aCGH. Methods: From year 2015 to year 2017, aCGH were performed in 34 infants and children exhibiting epileptic seizures accompanying with minor dysmorphic face, failure to thrive, short stature, or multiorgan involvement, with or without positive family history of developmental delay or mental retardation. Patients with specific syndromes, including Angelman syndrome, Fragile X syndrome, or major chromosomal disorders related syndromes, were excluded. Clinical manifestations and specific interictal and ictal EEG patterns were analyzed. Results: Eleven patients, 6 males and 5 females, showed microchromsomosal disorders. Five patients were microdeletion disorders, five patients were microduplication disorders, and one patient was Wolf-Hirschhorn syndrome. The median age at seizure onset was 6 months, ranging from 1 day old to 9 years old. The clinical seizure semiology could be focal and/or generalized epilepsy. The EEG features were diverse, from nonspecific findings to specific epileptiform discharges. Among 11 patients, 2 patients were seizure free under antiepileptic drugs administration and the remaining 9 patients still showed intermittent seizures despite treatment. Conclusions: Detailed clinical information of the epilepsy may help to detect microchromosomal disorders. The awareness of the associations between microchromosomal abnormalities and epilepsy, together with knowledge of their response to treatment and the expected outcome, should be of help in planning rational treatment and counseling of the families.    Funding: No funding.