Micayla Meyers Madell, Marcy Weidkamp, Laurie Newton
{"title":"Disaccharidase Deficiency in a Pediatric Patient With Autism Spectrum Disorder: Case Report.","authors":"Micayla Meyers Madell, Marcy Weidkamp, Laurie Newton","doi":"10.1016/j.pedhc.2025.08.008","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":50094,"journal":{"name":"Journal of Pediatric Health Care","volume":" ","pages":""},"PeriodicalIF":1.8000,"publicationDate":"2025-10-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Pediatric Health Care","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1016/j.pedhc.2025.08.008","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"HEALTH POLICY & SERVICES","Score":null,"Total":0}
引用次数: 0
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.
期刊介绍:
The Journal of Pediatric Health Care, the official journal of the National Association of Pediatric Nurse Practitioners, provides scholarly clinical information and research regarding primary, acute and specialty health care for children of newborn age through young adulthood within a family-centered context. The Journal disseminates multidisciplinary perspectives on evidence-based practice and emerging policy, advocacy and educational issues that are of importance to all healthcare professionals caring for children and their families.