A unique instance of hereditary retinal dystrophy and autism spectrum disorder in a visually impaired child: diagnostic and management challenges

Introduction

Autism spectrum disorder (ASD) is a neurodevelopmental disease that causes social communication problems and repetitive behaviors [1]. Detecting ASD in children with sensory deficits, especially visual issues, is difficult. Hereditary retinal dystrophies can cause early-onset blindness and ASD-like symptoms [2]. Clinicians must distinguish ASD symptoms from sensory deprivation symptoms in such cases. This case presentation shows diagnostic challenges in a child with hereditary retinal degeneration and ASD. The patient’s parents gave verbal agreement to this report.

Case Presentation

Born with inherited retinal dystrophy, a 9-year-old girl with behavioral and verbal problems was referred to our outpatient clinic. Genetic retinal degeneration worsened the patient’s vision. These results matched functional blindness. Symptoms included irritability, verbal and motor stereotypies, increased caregiver attachment, aggression, and head pounding.

Developmental issues emerged in the second year. She had an overall developmental delay, achieving head control at 6 months, sitting without help at 12 months, and walking independently at 2.5 years. Her first words came at 4 years old, and she never developed phrase-speaking. Toilet training failed owing to behavioral resistance. Additionally, she self-stimulated and socialized inappropriately.

Due to her congenital blindness, distinguishing sensory-related behaviors from ASD symptoms was difficult. Comprehensive investigation showed basic autistic features beyond visual loss. She had echolalia, limited joint attention, inflexible behavioral patterns, and no reciprocal social involvement. The Social Communication Questionnaire (SCQ), filled out by her mother, scored 21 out of 33, above the likely ASD cut-off of 15. Clinical observation and developmental history supported the DSM-5 ASD diagnosis.

The baby was born at 38 weeks and weighed 2300 grams. Phototherapy was used for newborn jaundice. EEG was normal despite seizure-like events. Risperidone, haloperidol, and valproate were given for behavioral dysregulation and seizures, respectively. Due to minimal improvement, the haloperidol dosage was doubled. Self-injurious behaviors decreased, sleep quality increased, and anger decreased. The patient is being monitored and treated. Discussion

This instance underscores the intricate relationship between ASD and visual impairment (VI), namely genetic retinal degeneration. The intersection of sensory-related behaviors (e.g., stereotypies, social disengagement) with ASD characteristics hinders precise identification. Moreover, VI may not only replicate but also intensify behaviors akin to autism.

Recent data indicates two principal paths for ASD-like characteristics in children with VI. Firstly, co-occurring ASD and VI result from common etiological conditions (e.g., genetic disorders, prematurity, central nervous system abnormalities), in which ASD and VI emerge independently yet concurrently, exacerbating the clinical appearance. Secondarily, autistic-like symptoms result solely from sensory deprivation, especially in children with isolated severe visual impairment or blindness. These children may exhibit temporary behaviors akin to ASD, yet frequently retain intact language skills, interest in social engagement, and potential for developmental recovery with appropriate assistance. Nonetheless, the potential for overdiagnosis must always be considered [3].

Conclusion

Diagnosing and controlling ASD in children with genetic VI necessitates meticulous, context-sensitive assessment. Longitudinal monitoring, interdisciplinary teamwork, and sensory-adapted evaluation instruments are essential for precise diagnosis. Customized medication and therapy, along with educating families, can significantly improve outcomes in these complex and rare situations.

References

1. American Psychiatric Association. (2022). Neurodevelopmental Disorders. In Diagnostic and statistical manual of mental disorders (5th ed., text rev.). https://doi.org/10.1176/appi.books.9780890425787.x01_Neurodevelopmental_Disorders
2. Sallum, J. M. F., Pellissari, M. C., Carreiro, L. R., & de Vasconcellos, C. F. C. (2024). Screening for autism spectrum disorder in children and adolescents with Leber’s congenital amaurosis. American Journal of Ophthalmology, 265, 257–274. https://doi.org/10.1016/j.ajo.2024.05.020
3. Molinaro, A., Micheletti, S., Rossi, A., Gitti, F., Galli, J., Merabet, L. B., & Fazzi, E. M. (2020). Autistic-like features in visually impaired children: A review of literature and directions for future research. Brain Sciences, 10(8), 507. https://doi.org/10.3390/brainsci10080507