Characteristics of infantile autism in five children with Leber's congenital amaurosis

S J Rogers1, S Newhart-Larson

  • 1Department of Psychiatry, University of Colorado Health Sciences Center, Denver 80262.

Insights

Children with Leber's congenital amaurosis (LCA) show autistic behaviors, similar to those with infantile autism. This study suggests LCA may explain some cases of autism and blindness co-occurrence.

Area of Science:

  • Ophthalmology
  • Neurodevelopmental Disorders
  • Pediatric Psychology

Background:

  • Leber's congenital amaurosis (LCA) is a rare inherited eye disease causing severe vision impairment from birth.
  • Autistic behaviors are sometimes observed in children with blindness, but the underlying causes are not fully understood.

Purpose of the Study:

  • To compare the behavioral characteristics of preschool boys with LCA to those of boys blind from other causes.
  • To investigate the potential link between LCA and autistic behaviors.

Main Methods:

  • Behavioral assessments were conducted on five preschool boys with LCA and five with other causes of congenital blindness.
  • The Childhood Autism Rating Scale (CARS) and Autism Behavior Checklist (ABC) were utilized.

Main Results:

  • Boys with LCA met criteria for infantile autism and displayed significantly higher CARS ratings for autistic symptom frequency and severity.
  • Distinctive ABC profiles and higher scores were observed in the LCA group compared to the control group.

Conclusions:

  • LCA may account for some reported cases of co-occurring autism and blindness in children.
  • Potential neurological underpinnings, such as cerebellar deficits, may explain behavioral similarities between children with LCA and sighted autistic children.

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