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

This report follows a 13-year-old nonverbal autistic child who had stomach problems that caused changes in behavior and toilet habits. Doctors found the child couldn't properly digest lactose (milk sugar). The study reminds us that stomach problems are much more common in autistic children than other children. It's important for doctors to look for medical causes when autistic children show new behaviors, rather than just thinking it's part of their autism.

This case report describes a 13-year-old nonverbal autistic child who underwent extensive gastrointestinal evaluation for behavioral and toileting changes. Lactase deficiency was identified as a contributing factor to the symptoms. The report emphasizes that gastrointestinal symptoms are significantly more common in autistic children (9-84%) compared to neurotypical children (9-37%), with meta-analyses confirming higher rates of diarrhea, constipation, and abdominal pain. The case highlights the clinical challenge of assessing pain in nonverbal autistic children, where behavioral changes may be incorrectly attributed to developmental differences rather than underlying medical conditions requiring investigation.

Healthcare providers should maintain high clinical suspicion for gastrointestinal disorders in autistic children presenting with behavioral changes. Comprehensive medical evaluation is essential before attributing new behaviors solely to developmental differences. Lactase deficiency should be considered in the differential diagnosis.

Single case report with no control group or statistical analysis. Limited generalizability from one patient. No long-term follow-up data provided. Cannot establish causation between lactase deficiency and behavioral changes.

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.