[P1-75] Chromosomal Disorders and Epilepsies
[Introduction]
Although chromosomal abnormalities do not represent a frequent cause of seizure disorders, they carry a higher risk for seizures since epileptic seizures have been reported with greater frequency in patients with chromosomopathies than in general population. The aim of this study is to analyze the results of patients with chromosomal disorders and epilepsy.
[Methodology]
From year 2010 to September 2016, chromosome study or array CGH analysis were performed in 54 infants and children exhibiting epileptic seizures accompanying with minor dysmorphic face, failure to thrive, short stature, or multi-organ involvement, with or without positive family history of developmental delay or mental retardation. Patients with specific interictal and ictal EEG patterns were also noted.
[Results]
Chromosome study showed 7 patients had abnormal findings, including, trisomy 18 (1), trisomy 21 (1), ring chromosome 20 (1), and other chromosome abnormality (4). 27 patients performed array CGH analysis, and 9 (33%) showed 5 microdeletion disorders, 3 microduplication disorders, and one Wolf-Hirschhorn syndrome. 13 patients did genetic testing for Angelman syndrome, and 9 (69%) showed positive results. Seven patients performed Fragile X syndrome, and 1 (14%) had positive result.
[Conclusions]
A more detailed clinical information and elecroclinical patterns of the epilepsy may help to detect chromosomopathy and specific genes affecting seizure susceptibility. The awareness of the associations between syndromes due to chromosomal 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.
Although chromosomal abnormalities do not represent a frequent cause of seizure disorders, they carry a higher risk for seizures since epileptic seizures have been reported with greater frequency in patients with chromosomopathies than in general population. The aim of this study is to analyze the results of patients with chromosomal disorders and epilepsy.
[Methodology]
From year 2010 to September 2016, chromosome study or array CGH analysis were performed in 54 infants and children exhibiting epileptic seizures accompanying with minor dysmorphic face, failure to thrive, short stature, or multi-organ involvement, with or without positive family history of developmental delay or mental retardation. Patients with specific interictal and ictal EEG patterns were also noted.
[Results]
Chromosome study showed 7 patients had abnormal findings, including, trisomy 18 (1), trisomy 21 (1), ring chromosome 20 (1), and other chromosome abnormality (4). 27 patients performed array CGH analysis, and 9 (33%) showed 5 microdeletion disorders, 3 microduplication disorders, and one Wolf-Hirschhorn syndrome. 13 patients did genetic testing for Angelman syndrome, and 9 (69%) showed positive results. Seven patients performed Fragile X syndrome, and 1 (14%) had positive result.
[Conclusions]
A more detailed clinical information and elecroclinical patterns of the epilepsy may help to detect chromosomopathy and specific genes affecting seizure susceptibility. The awareness of the associations between syndromes due to chromosomal 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.