Autism spectrum disorder in young patients with congenital central hypoventilation syndrome: role of the autonomic nervous system dysfunction

Autism spectrum disorder in young patients with congenital central hypoventilation syndrome <bold>Background:</bold> Congenital central hypoventilation syndrome (CCHS) is a condition characterized by alveolar hypoventilation and autonomic nervous system (ANS) dysfunction requiring long-term ventilation. CCHS could constitute a risk factor of autism spectrum disorder (ASD) due to birth injury related to respiratory failure, which remains to be determined. ANS dysfunction has also been described in ASD and there are indications for altered contribution of ANS-central nervous system interaction in processing of social information; Our study aimed to determine the prevalence of ASD among CCHS patients, identify risk factors, and explore the relationship between the ANS and adaptative functioning <bold>Methods:</bold> Our retrospective study was based on the analysis of records of a French national center of patients with CCHS Results : Prevalence of ASD was 6/69 patients, 8.7%. In a case (CCHS with ASD, n=6) – control (CCHS without ASD, n=12) study, longer neonatal hospitalization stay and glycemic dysfunction were associated with ASD. Adaptative functioning was assessed using Vineland Adaptative behavioral scales (VABS) and heart rate variability indices (RMSSD) were obtained from ECG Holter. In 19 young subjects with CCHS who had both ECG Holter and VABS, significant positive correlations were observed between RMSSD and 3 of 4 sub-domains of the VABS Conclusion : Our study suggests a high prevalence of ASD in patients with CCHS. Glycemic dysfunction and longer initial hospitalization stays were associated with ASD development