Absence epilepsy and the CHD2 gene: an adolescent male with moderate intellectual disability, short-lasting psychoses, and an interstitial deletion in 15q26.1–q26.2
| Autor: | Willem M.A. Verhoeven, José Zuydam, Jos I. M. Egger, Alida C. Knegt, Tjitske Kleefstra |
|---|---|
| Přispěvatelé: | Psychiatry |
| Jazyk: | angličtina |
| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
medicine.medical_specialty Pediatrics CHD2 gene neuropsychology Case Report Chromodomain Experimental Psychopathology and Treatment 03 medical and health sciences Epilepsy Intellectual disability medicine Psychiatry Valproic Acid Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7] Neuro- en revalidatiepsychologie business.industry Neuropsychology and rehabilitation psychology Neuropsychology Plasticity and Memory [DI-BCB_DCC_Theme 3] psychotic disorder medicine.disease 030104 developmental biology 15q26.1 interstitial deletion CHD2 intellectual disability Etiology epilepsy business Psychopathology medicine.drug |
| Zdroj: | Neuropsychiatric Disease and Treatment Neuropsychiatric Disease and Treatment, 12, 1135-1139. Dove Medical Press Ltd. Neuropsychiatric Disease and Treatment, 12, pp. 1135-1139 Neuropsychiatric Disease and Treatment, 12, 1135-1139 |
| ISSN: | 1178-2021 1176-6328 |
| Popis: | Contains fulltext : 167606.pdf (Publisher’s version ) (Open Access) Deletions of the 15q26 region encompassing the chromodomain helicase DNA binding domain 2 (CHD2) gene have been associated with intellectual disability, behavioral problems, and several types of epilepsy. Including the cases mentioned in ECARUCA (European cytogeneticists association register of unbalanced chromosome aberrations) and DECIPHER (database of genomic variation and phenotype in humans using ensembl resources), so far, a total of 13 intellectually disabled patients with a genetically proven deletion of the CHD2 gene are described, of whom eleven had a history of severe forms of epilepsy starting from a young age. In this article, a moderately intellectually disabled 15-year-old male with a 15q26.1-q26.2 interstitial deletion is reported, who was referred for analysis of two recent short-lasting psychotic episodes that were nonresponsive to antipsychotic treatment and recurrent disinhibited behaviors since early infancy. Careful interdisciplinary assessment revealed that the psychotic phenomena originated from a previously unrecognized absence epilepsy. Treatment with valproic acid was started which resulted in full remission of psychotic symptoms, and consequently, substantial improvement of behavior. It was concluded that in case of (rare) developmental disorders with genetically proven etiology, a detailed inventory of anamnestic data and description of symptomatology over time may elucidate epilepsy-related psychopathology for which a specific treatment regimen is needed. 5 p. |
| Databáze: | OpenAIRE |
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