Characterizing regression in Phelan McDermid Syndrome (22q13 deletion syndrome)
| Autor: | Joachim Hallmayer, Wendy M Froehlich-Santino, Sean Berquist, Jonathan A. Bernstein, Gillian Reierson, Josh Jordan, Carolin Purmann, Alexander E. Urban, Ruth O'Hara |
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| Rok vydání: | 2017 |
| Předmět: |
Male
0301 basic medicine medicine.medical_specialty Pediatrics Adolescent Chromosomes Human Pair 22 Chromosome Disorders 22q13 deletion syndrome Electroencephalography Article Young Adult 03 medical and health sciences Epilepsy 0302 clinical medicine Seizures medicine Humans Age of Onset Child Psychiatry Genetic Association Studies Biological Psychiatry Language medicine.diagnostic_test Medical record Infant Newborn Infant Contrast (statistics) medicine.disease Regression Regression Psychology Psychiatry and Mental health 030104 developmental biology Motor Skills Child Preschool Autism Female Chromosome Deletion Psychology Developmental regression 030217 neurology & neurosurgery |
| Zdroj: | Journal of Psychiatric Research. 91:139-144 |
| ISSN: | 0022-3956 |
| Popis: | Purpose To describe the frequency and characteristics of developmental regression in a sample of 50 patients with Phelan McDermid Syndrome (PMS) and investigate the possibility of association between regression, epilepsy, and electroencephalogram (EEG) abnormalities and deletion size. Methods The Autism Diagnostic Interview-Revised (ADI-R) was used to evaluate regression in patients with a confirmed diagnosis of PMS. Information on seizure history and EEGs was obtained from medical record review. Deletion size was determined by DNA microarray. Results A history of regression at any age was present in 43% of all patients. Among those exhibiting regression, 67% had onset after the age of 30 months, affecting primarily motor and self-help skills. In 63% of all patients there was a history of seizures and a history of abnormal EEG was also present in 71%. No significant associations were found between regression and seizures or EEG abnormalities. Deletion size was significantly associated with EEG abnormalities, but not with regression or seizures. Conclusion This study found a high rate of regression in PMS. In contrast to regression in autism, that often occurs earlier in development and affects language and social skills, we found regression in PMS most frequently has an onset in mid-childhood, affecting motor and self-help skills. We also found high rates of seizures and abnormal EEGs in patients with PMS. However, a history of abnormal EEG and seizures was not associated with an increased risk of regression. Larger deletion sizes were found to be significantly associated with a history of abnormal EEG. |
| Databáze: | OpenAIRE |
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