Autism spectrum disorder in CHARGE syndrome: a case report

Introduction

CHARGE syndrome is a multisystem congenital disorder associated with CHD7 mutations and defined by characteristic physical anomalies and developmental delay. However, current diagnostic frameworks do not fully capture the distinct behavioural and social impairments often observed in these patients. Increasing evidence suggests overlap with autism spectrum disorder (ASD), though this relationship remains underappreciated.

Case description

We present a longitudinal case study of a 25-year-old male diagnosed in infancy with CHARGE syndrome. Despite a strong clinical phenotype, no CHD7 mutation was detected. In addition to developmental impairment, he demonstrated persistent deficits in social communication, absence of verbal language, and restricted, repetitive behaviours, leading to an ASD diagnosis in childhood. His course was marked by progressive impairments, including near-complete bilateral vision loss, and new complications, including recurrent Ogilvie syndrome. He remains dependent on caregivers for daily living.

Discussion

This case explores the relationship between CHARGE syndrome and ASD. His ASD remained identifiable despite profound hearing and vision loss and intellectual disability, most clearly through restricted and repetitive behaviours, and has remained central to his care. Together with existing literature, this supports early ASD screening in patients with CHARGE syndrome and further investigation into this potential association.

Learning points