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Leber's congenital amaurosis: is there an autistic component?

E Fazzi1, M Rossi, S Signorini

  • 1Department of Child Neurology and Psychiatry, IRCCS C. Mondino Institute of Neurology, University of Pavia, Via Mondino 2, 27100 Pavia, Italy. efazzi@unipv.it

Developmental Medicine and Child Neurology
|June 27, 2007
PubMed

Insights

Children with congenital blindness, such as Leber's congenital amaurosis (LCA), rarely have autism. Early intervention can help visually impaired children with social interaction challenges.

Area of Science:

  • Ophthalmology
  • Developmental Psychology
  • Neuroscience

Background:

  • Evidence suggests a link between congenital blindness and autistic-like features.
  • The clinical significance of this association remains unclear.
  • Vision plays a crucial role in child development.

Purpose of the Study:

  • To investigate the significance of autistic-like behaviors in children with early-onset severe visual impairment.
  • To determine if Leber's congenital amaurosis (LCA) is associated with genuine autism.
  • To identify potential risks and interventions for visually impaired children.

Main Methods:

  • Studied 24 children (mean age 5y 2mo) with Leber's congenital amaurosis (LCA).
  • Administered a modified Childhood Autism Rating Scale, excluding visual responsiveness.
  • Assessed social and emotional responsiveness and interpersonal relationships.

Main Results:

  • Only 4 out of 24 children scored positive for mild/moderate autism.
  • Most children with LCA did not exhibit major social or emotional dysfunctions.
  • Genuine comorbidity with autism was excluded in the LCA sample.

Conclusions:

  • Autistic-like behaviors in children with LCA are not indicative of true autism.
  • Visually impaired children face risks related to early interactive experiences.
  • Specific intervention strategies can mitigate challenges in social connection for visually impaired children.

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