Progression of Autism in a Young Woman with CHARGE Syndrome: A Longitudinal Follow-up from Birth

Abstract

CHARGE Syndrome (CS) is a rare genetic disease involving somatic malformations and multisensory impairments. The association of CS with autism spectrum disorders remains a controversial issue because it remains challenging to clinically assess symptoms of autism in young children with potential severe somatic conditions, deaf blindness and mental delay and the behavior troubles often encountered in individuals with CS can be considered the consequence of their multisensory deficits and medical history. We report the complex developmental trajectory of a 25-year-old girl with typical CS, with emotional disorders and problematic behaviors that led to a diagnosis of autism. Addressed by a multidimensional and integrative perspective, this situation reveals the coexistence of factors and impairments not causally connected but whose constant interactions during her development must be evaluated. In this way, clinicians can achieve a functional diagnosis enabling the elaboration of a tailored therapeutic proposal.