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Disaccharidase Deficiency in a Pediatric Patient With Autism Spectrum Disorder: Case Report
Insights
Gastrointestinal issues are common in children with autism spectrum disorder (ASD). This case highlights lactase deficiency as a cause of behavioral changes in a nonverbal child with ASD, emphasizing thorough pain assessment.
Area of Science:
- Pediatrics
- Gastroenterology
- Neurodevelopmental Disorders
Background:
- Gastrointestinal (GI) symptoms are prevalent in children with autism spectrum disorder (ASD), occurring at significantly higher rates than in neurotypical children.
- Assessing pain and attributing new behaviors can be challenging in nonverbal or developmentally delayed children with ASD.
Purpose of the Study:
- To describe a case of a 13-year-old nonverbal patient with ASD presenting with gastrointestinal concerns.
- To illustrate the diagnostic process, therapeutic interventions, and outcomes for GI issues in this population.
- To emphasize the importance of investigating underlying causes of behavioral changes in children with ASD.
Main Methods:
- A case report detailing the clinical presentation, diagnostic workup, and management of a 13-year-old nonverbal patient with ASD.
- Review of existing literature on the prevalence of GI symptoms in ASD and challenges in pain assessment.
Main Results:
- The patient was diagnosed with lactase deficiency, identified as a contributing factor to acute changes in behavior and toileting.
- The case underscores the difficulty in assessing pain in nonverbal individuals with ASD.
Conclusions:
- Lactase deficiency can manifest as behavioral changes in nonverbal children with ASD.
- Comprehensive investigation for pain and GI issues is crucial in nonverbal or developmentally delayed children with ASD, even when behavioral changes are present.
Abstract:
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.
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