Disaccharidase Deficiency in a Pediatric Patient With Autism Spectrum Disorder: Case Report.

This case report describes a 13-year-old patient diagnosed with autism spectrum disorder (ASD) and nonverbal communication who received an extensive workup for gastrointestinal (GI) concerns. The clinical presentation, diagnostic reasoning, therapeutic intervention, and follow-up are discussed. The frequency of GI tract symptoms in children with ASD ranges from 9% to 84%, compared with 9%-37% for children without ASD. Meta-analysis reveals that children with ASD experience significantly more general GI symptoms as well as higher rates of diarrhea, constipation, and abdominal pain. In this scenario, lactase deficiency was felt to be a contributing cause of acute changes in behavior and toileting habits. It can be difficult to assess pain in patients with ASD, and therefore, providers may be inclined to attribute new behaviors to the patient's developmental differences. This case highlights the importance of investigating multiple casualties of pain in children with ASD who are non-verbal or developmentally delayed.