Juvenile neuronal ceroid lipofuscinosis and education

Biochim Biophys Acta. 2013 Nov;1832(11):1894-905. doi: 10.1016/j.bbadis.2013.02.017. Epub 2013 Mar 5.

Abstract

Juvenile neuronal ceroid lipofuscinosis (JNCL) is characterized by severe visual impairment with onset around age 4-8 years, and a developmental course that includes blindness, epilepsy, speech problems, dementia, motor coordination problems, and emotional reactions. There is presently no cure and the disease leads to premature death. There have been few studies of non-medical intervention for individuals with JNCL, probably because of the negative prognosis. The present chapter discusses the education of children and adolescents with JNCL on the basis of current knowledge about the variation in perceptual, cognitive and language abilities through the course of the disease, and the possibilities that exist for supporting coping and learning within and outside the classroom. Adapted and special needs education may contribute significantly to improved learning conditions, better maintenance of skills and less frustration for individuals with JNCL. This article is part of a Special Issue entitled: The Neuronal Ceroid Lipofuscinoses or Batten Disease.

Keywords: Batten disease; Development; Education; Juvenile neuronal ceroid lipofuscinoses; School.

Publication types

  • Review

MeSH terms

  • Adolescent
  • Child
  • Child, Preschool
  • Genetic Predisposition to Disease*
  • Humans
  • Membrane Proteins / genetics*
  • Mutation / genetics*
  • Neuronal Ceroid-Lipofuscinoses / etiology*
  • Neuronal Ceroid-Lipofuscinoses / pathology*
  • Patient Education as Topic*
  • Phenotype

Substances

  • Membrane Proteins