title: Long-term follow-up of type 1 lissencephaly: survival is related to neuroimaging abnormalities.
abstract: OBJECTIVE
  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.
  
  
  METHODS
  We re-evaluated 24 patients (11 males, 13 females) for long-term follow-up and survival information.
  
  
  RESULTS
  Mean length of follow-up was 14 years (SD 9 y 8 mo). 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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Neurology and Paediatric Neurology, Erasmus MC, Sophia Children's Hospital, Rotterdam, The Netherlands.
authors.forename: Marie-Claire Y
authors.initials: MC
authors.lastname: de Wit
authors.forename: Jojanneke
authors.initials: J
authors.lastname: de Rijk-van Andel
authors.forename: Dicky J
authors.initials: DJ
authors.lastname: Halley
authors.forename: Pino J
authors.initials: PJ
authors.lastname: Poddighe
authors.forename: Willem Frans M
authors.initials: WF
authors.lastname: Arts
authors.forename: Irenaeus F M
authors.initials: IF
authors.lastname: de Coo
authors.forename: Grazia M S
authors.initials: GM
authors.lastname: Mancini
mesh_terms: D000328:Adult; D001921:Brain / Q000002:abnormalities* / Q000473:pathology*; D054221:Classical Lissencephalies and Subcortical Band Heterotopias / Q000000981:diagnostic imaging / Q000401:mortality* / Q000473:pathology*; D005260:Female; D006801:Humans; D008137:Longitudinal Studies; D008297:Male; D016019:Survival Analysis; D014057:Tomography, X-Ray Computed / Q000379:methods; D055815:Young Adult