Autism and Deafness, A Diagnostic Clinical Challenge

Moreno Fernandes M*, Sá Pinto M, Preda A, Rocha Pinto M, Calejo Jorge J, Leão M and Santos H

Department of Pediatrics, Unidade Local de Saúde Gaia e Espinho, Vila Nova de Gaia, Portugal
Department of Child Psychiatry, Unidade Local de Saúde Gaia e Espinho, Vila Nova de Gaia, Portugal
Department of Genetics, Unidade Local de Saúde São João, Vila Nova de Gaia, Portugal

^*Correspondance to: Margarida Fernandes 

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Abstract:

Autism Spectrum Disorder (ASD) and congenital deafness frequently co-occur, with higher rates of ASD reported in deaf children than in the general population. Overlapping clinical features often complicate differential diagnosis and may lead to diagnostic delay, with significant consequences for early intervention and family counselling. We report the case of an 8-year-old boy with congenital bilateral sensorineural hearing loss diagnosed in early infancy, who later developed social communication regression and was diagnosed with moderate-to-severe ASD. The patient underwent early auditory rehabilitation and bilateral cochlear implantation, showing good functional adaptation despite the neurodevelopmental diagnosis. Whole-exome sequencing subsequently identified a homozygous pathogenic variant in MYO15A (c.4107C>A; p.Ser1369Arg), consistent with autosomal recessive non syndromic hearing loss (DFNB3), as well as heterozygous variants of uncertain significance in CHD8 and SHANK2, genes recognized as autism susceptibility genes. This case illustrates a complex neurodevelopmental phenotype with a monogenic cause of deafness and additional genetic susceptibility potentially contributing to ASD through a multifactorial or oligogenic mechanism. Early recognition of ASD in deaf children is challenging but essential to ensure timely multidisciplinary intervention, realistic expectations regarding cochlear implantation outcomes, and appropriate genetic counselling. Comprehensive genetic evaluation can play a key role in clarifying diagnosis and guiding clinical management in children presenting with both deafness and ASD.

Keywords:

Autism spectrum disorder; Diagnosis

Cite the Article:

Moreno Fernandes M, Sá Pinto M, Preda A, Rocha Pinto M, Calejo Jorge J, Leão M, et al. Autism and Deafness, A Diagnostic Clinical Challenge. Clin Case Rep Int. 2026; 10: 1753.