Autism presenting in the context of a genetic variant of CFTRand early HSV exposure confounded by chronic pain, altered gut microbiota and paternal abandonment; limitations of current pharmacotherapy and barriers to personalized treatment recommendations

A 14year old boy presented with a diagnosis of autism spectrum disorder (ASD) and a history of chronic pancreatitis due to a genetic variant of the gene for the “Cystic Fibrosis Transmembrane Conductance Regulator (CFTR)” that necessitated pancreatectomy. The patient also had a history of intrauterine exposure to Herpes Simplex Virus (HSV). He presented with severe ritualistic behaviors and aggressive reactions to their prevention. His clinical presentation was confounded by the history of chronic peritoneal pain, GI disturbance, altered gut microbiota due to chronic treatment with antibiotics, and paternal abandonment. The patient requires self-administration of insulin every three hours. The patient’s presentation highlights complex interactions between biological and psychosocial variables. Additionally, the history draws attention to the role CFTRplays in fetal brain development, and raises the possibility that a genetic variant at this locus interacts with early HSV infection, contributing to the pathogenesis of ASD. Unfortunately, current pharmacotherapeutic strategies for ASD target symptoms and do not address underlying etiologies or pathogenic mechanisms.