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Long-term follow-up of type 1 lissencephaly: survival is related to neuroimaging abnormalities
- Source :
- Developmental Medicine & Child Neurology. 53:417-421
- Publication Year :
- 2011
- Publisher :
- Wiley, 2011.
-
Abstract
- Aim: To evaluate survival, clinical, and genetic characteristics of all patients with classic or type 1 lissencephaly born between 1972 and 1990 in the Netherlands, who at the time were enrolled in an observational study. Method: We re-evaluated 24 patients (11 males, 13 females) for long-term follow-up and survival information. Results: Mean length of follow-up was 14years (SD 9y 8mo). Eleven patients were alive at follow-up. All patients showed severe intellectual disability, intractable epilepsy, and complete dependency on care. Life expectancy was related to the severity of the lissencephaly on neuroimaging. Molecular analysis of the LIS1 gene was not possible at the time of the original study and was now requested by eight parents. This revealed a pathogenic nonsense mutation or deletion in seven patients. Interpretation Our study provides information about the long-term course of lissencephaly and the relationship between lissencephaly severity and prognosis. It also shows that renewed attention to genetic counselling remains valued by families of patients with a severe congenital neurological disease. © The Authors. Developmental Medicine & Child Neurology
- Subjects :
- Pediatrics
medicine.medical_specialty
Neurology
business.industry
Genetic counseling
Lissencephaly
Disease
medicine.disease
Developmental Neuroscience
Neuroimaging
Pediatrics, Perinatology and Child Health
Intellectual disability
medicine
Neurology (clinical)
Young adult
business
Survival analysis
Subjects
Details
- ISSN :
- 00121622
- Volume :
- 53
- Database :
- OpenAIRE
- Journal :
- Developmental Medicine & Child Neurology
- Accession number :
- edsair.doi...........69e30aae42a88c7bdef80e43eaf1db89