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Congenital blindness and autism spectrum disorder (ASD): diagnostic challenges and intervention options

Sharline Suhumaran1, Sita Padmini Yeleswarapu2, Lourdes Mary Daniel2

  • 1Department of Child Development, KK Women's and Children's Hospital, Singapore sharline.suhumaran@singhealth.com.sg.

BMJ Case Reports
|February 14, 2020
PubMed

Insights

Diagnosing autism spectrum disorder (ASD) in blind children presents unique challenges. This case highlights the complexities of identifying ASD in visually impaired youth, impacting early intervention and support.

Area of Science:

  • Developmental Pediatrics
  • Neurodevelopmental Disorders
  • Ophthalmology

Background:

  • Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by social communication deficits and restricted, repetitive behaviors.
  • Congenital blindness, or vision impairment from birth, can complicate the assessment of developmental and behavioral patterns.
  • Early diagnosis of ASD is crucial for timely intervention and improved outcomes.

Observation:

  • A 6-year-old boy with congenital blindness presented with global developmental delay.
  • He exhibited worsening self-injurious behaviors, difficulties in social interaction, transitions, and interactive play.
  • Clinical observations included poor response to name, rigidity, repetitive behaviors, and a sensory profile consistent with ASD.

Findings:

  • The case underscores the diagnostic challenges of identifying ASD in children with visual impairments.
  • Standard ASD assessment tools may require adaptation for visually impaired individuals.
  • Co-occurring conditions like global developmental delay and self-injurious behaviors necessitate a comprehensive evaluation.

Implications:

  • There is a need for specialized diagnostic approaches for ASD in visually impaired populations.
  • Healthcare providers require enhanced training to recognize ASD in the context of blindness.
  • Improved diagnostic strategies can facilitate earlier support and management for children with both conditions.

Keywords:
child and adolescent psychiatry (paediatrics)developmental paediatrocs

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