Janzing, A. M. (2020) Clinical and diagnostic characteristics suggestive of a genetic cause in children with cerebral palsy A systematic review and a cohort study. thesis, Medicine.
Full text available on request.Abstract
Background/Aim: Cerebral palsy (CP) is a group of non-progressive motor disorders presenting before the age of 2, accompanied by a variety of additional symptoms. Recent evidence suggests a possible role for genetics in CP etiology in at least 14% of patients. An overview of genetic causes and their distinctive characteristics is lacking. Methods: A systematic review was conducted to collect genes leading to CP. The frequently mentioned characteristics accompanying these genes were compared to literature about the total CP population resulting in the identification of genetic indicators. Subsequently, medical files of 50 CP children from the University Medical Center of Groningen (UMCG) were investigated on the presence of these genetic indicators. Results: Of 1559 articles, 103 were included. In these, 40 CP genes (described in ≥2 cases, n=182) and 46 candidate genes (described in 1 case, n=46) were reported. Dyskinesia, the absence of spasticity and the absence of perinatal risk factors were identified as strong genetic indicators. Intellectual disability and no preterm birth were identified as moderate genetic indicators. In three patients of the UMCG cohort a genetic mutation was identified. In fifteen out of fifty patients (30%) two or more genetic indicators were present. Conclusion: Based on current literature, at least forty genes leading to a CP phenotype were identified. Most distinctive characteristics in the clinical presentation of these genetic patients were motor phenotype and the absence of perinatal risk factors. To what extent these indicators increase the probability of a genetic CP remains to be investigated. These results might be a first step towards a diagnostic algorithm for genetic CP leading to a better diagnosis, with more effective treatment and adequate family counselling as a result.
| Item Type: | Thesis (UNSPECIFIED) |
|---|---|
| Supervisor name: | Prof. Dr. De Koning, T.J. and Dr. Eggink, H. |
| Faculty: | Medical Sciences |
| Date Deposited: | 06 Nov 2023 12:34 |
| Last Modified: | 06 Nov 2023 12:34 |
| URI: | https://umcg.studenttheses.ub.rug.nl/id/eprint/3723 |
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