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Case report
Congenital blindness and autism spectrum disorder (ASD): diagnostic challenges and intervention options
  1. Sharline Suhumaran,
  2. Sita Padmini Yeleswarapu,
  3. Lourdes Mary Daniel and
  4. Chui Mae Wong
  1. Department of Child Development, KK Women's and Children's Hospital, Singapore
  1. Correspondence to Dr Sharline Suhumaran; sharline.suhumaran{at}


The case of a 6-year-old boy with congenital blindness and features suggestive of autism spectrum disorder (ASD) is reported. He presented to a developmental paediatrician with global developmental delay, worsening self-injurious behaviours and difficulties in social interaction, transitions and interactive play. He demonstrated poor response to his name, rigidity, repetitive behaviours and had a sensory profile suggestive of ASD. This paper discusses the challenges in diagnosing and managing ASD in visually impaired children.

  • child and adolescent psychiatry (paediatrics)
  • developmental paediatrocs

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  • Contributors SS served as the primary author. She reviewed the case in detail, interviewed parents and read all available reports on clinical progress and reports by all the allied health professionals. She also performed a comprehensive literature review and developed a clear way in describing the clinical findings along with the supporting literature. SPY played a key role in discussions on diagnosis of the patient in question. She edited the case report such that the flow of information was clear. She also contributed to the learning points. LMD reviewed drafts of the case report, planned the flow of information in the report and ensured that the word limit was met. CMW reviewed drafts of the case report and organised the information. She was also involved in clinical discussions pertaining to the diagnostic challenges faced with the patient in question.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Patient consent for publication Parental/guardian consent obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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