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    Pediatrics
    January 2010, VOLUME 125 / ISSUE Supplement 1
    SUPPLEMENT ARTICLE

    Evaluation, Diagnosis, and Treatment of Gastrointestinal Disorders in Individuals With ASDs: A Consensus Report

    Timothy Buie, Daniel B. Campbell, George J. Fuchs III, Glenn T. Furuta, Joseph Levy, Judy VandeWater, Agnes H. Whitaker, Dan Atkins, Margaret L. Bauman, Arthur L. Beaudet, Edward G. Carr, Michael D. Gershon, Susan L. Hyman, Pipop Jirapinyo, Harumi Jyonouchi, Koorosh Kooros, Rafail Kushak, Pat Levitt, Susan E. Levy, Jeffery D. Lewis, Katherine F. Murray, Marvin R. Natowicz, Aderbal Sabra, Barry K. Wershil, Sharon C. Weston, Lonnie Zeltzer, Harland Winter
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    • TABLE 1

      GRADE System Definitions

      Type of EvidenceQuality of Evidence
      High: evidence based on randomized, controlled trialsHigh quality: additional research is very unlikely to change our confidence in the estimate of effect.
      Low: evidence based on observational studiesModerate quality: additional research is likely to have an important impact on our confidence in the estimate of effect and may change the estimate.
      Very low: any other evidenceLow quality: additional research is very likely to have an important impact on our confidence in the estimate of effect and is likely to change the estimate.
      Very low quality: Any estimate of effect is very uncertain.
      • Critiques (review articles and editorials) are ineligible for assessment by the GRADE system of evaluation.

        Adapted with permission from BMJ Publishing Group Ltd from Atkins D, Best D, Briss PA, et al; GRADE Working Group. BMJ. 2004;328(7454):1490.

    • TABLE 2

      Behaviors That May Be Markers of Abdominal Pain or Discomfort in Individuals With ASDs

      Vocal BehaviorsMotor BehaviorsaChanges in Overall State
      Frequent clearing of throat, swallowing, tics, etcFacial grimacingSleep disturbances: difficulty getting to sleep, difficulty staying asleep
      ScreamingGritting teethIncreased irritability (exaggerated responses to stimulation)
      Sobbing “for no reason at all”WincingNoncompliance with demands that typically elicit an appropriate response (oppositional behavior)
      Sighing, whiningConstant eating/drinking/swallowing (“grazing” behavior)
      Moaning, groaningMouthing behaviors: chewing on clothes (shirt sleeve cuff, neck of shirt, etc), pica
      Delayed echolalia that includes reference to pain or stomach (eg, child says, “Does your tummy hurt?” echoing what mother may have said to child in the past)Application of pressure to abdomen: leaning abdomen against or over furniture or kitchen sink, pressing hands into abdomen, rubbing abdomen
      Direct verbalizations (eg, child says “tummy hurts” or says “ouch,” “ow,” “hurts,” or “bad” while pointing to abdomen)Tapping behavior: finger tapping on throat
      Any unusual posturing, which may appear as individual postures or in various combinations: jaw thrust, neck torsion, arching of back, odd arm positioning, rotational distortions of torso/trunk, sensitivity to being touched in abdominal area/flinching
      Agitation: pacing, jumping up and down
      Unexplained increase in repetitive behaviors
      Self-injurious behaviors: biting, hits/slaps face, head-banging, unexplained increase in self-injury
      Aggression: onset of, or increase in, aggressive behavior
      • A functional behavioral assessment would be useful in interpreting these behaviors.

      • ↵a Motor behaviors also may be markers of pain or discomfort arising in other parts of the body.

    • TABLE 3

      Diagnostic Evaluation of Gastrointestinal Symptoms and Disorders in Individuals With ASDs

      SymptomPossible Associated Gastrointestinal DisorderDefinitionDiagnostic Evaluations to Be Considered
      Sleep disturbanceGERDParental/provider report(1) Diagnostic trial of proton-pump inhibitor; (2) pH probe, EGD
      Self-injurious behavior, tantrums, aggression, oppositional behaviorConstipation, GERD, gastritis, intestinal inflammationParental/provider report(1) Abdominal radiograph; (2) diagnostic trial of proton-pump inhibitor or PEG 3350; (3) pH probe, EGD, colonoscopy
      Chronic diarrheaMalabsorption, maldigestion≥3 loose stools daily for >2 wk(1) Stool analysis for occult blood, enteric pathogens, ova/parasites (Giardia or Cryptosporidium), Clostridium difficile; (2) consider PEG 3350 if overflow diarrhea is a possibility; (3) lactose breath test (or measure lactase-specific activity), EGD, colonoscopy
      Straining to pass stool, hard or infrequent stoolConstipation≤2 hard stools per week (Bristol stool score)(1) Abdominal radiograph to look for fecal impaction; (2) diagnostic trial of PEG 3350
      Perceived abdominal discomfort: pressing abdomen, holding abdomen and crying, problem behaviors related to mealsConstipation, GERD, intestinal inflammation, malabsorption, maldigestion(1) Diagnostic trial of proton-pump inhibitor or PEG 3350; (2) abdominal radiograph; (3) lactose breath test (or measure lactase-specific activity); (4) pH probe, EGD, colonoscopy
      Flatulence and/or bloatingConstipation, lactose intolerance, enteric infection with Giardia or Cryptosporidium(1) Abdominal radiograph; (2) diagnostic trial of PEG 3350 or lactose restriction; (3) lactose breath test or EGD (measure lactase-specific activity)
      Any or all of the aboveFAP, IBSFAP: abdominal pain without demonstrable evidence of anatomic, metabolic, infectious, inflammatory, neoplastic, or other pathologic condition(1) Behavioral soothing; (2) diet enhancements with fruits, fiber, sufficient fluids; (3) increase in routines for sleep and toilet time
      IBS: FAP associated with alteration in bowel movements
      • EGD indicates esophagogastroduodenoscopy; PEG, polyethylene glycol.

    • TABLE 4

      Prevalence of Gastrointestinal Symptoms in Individuals With ASDs

      SourceOverall PrevalencePrevalence of Specific DisordersSample SizeSample CharacteristicsControlComments
      Black et al16 (2002)9% with gastrointestinal disease (vs 9%)a—96Children with later diagnosis of ASD449 children matched for age, gender, practice, and index date (date of first recorded diagnosis of ASD)Nested case-control study; UK General Practice Database (N = 211 480; general practitioner records of recurrent gastrointestinal symptoms)
      Taylor et al17 (2002)17% with chronic bowel symptoms (lasting ≥3 mo)8.9% chronic constipation; 4.0% diarrhea; 1.5% constipation and diarrhea473278 children with childhood ASDs plus 195 with atypical ASDs—Electronic disability registries in 5 London health districts and special school and child psychiatry records; clinical notes supplemented by family questionnaires
      Fombonne and Chakrabarti18 (2001)18.8% with gastrointestinal symptoms9.4% constipation; 5.2% abdominal pain; 5.2% bloody stools; 3.1% diarrhea96Post-MMR sample of children referred for developmental problem to local child development center who received PDD diagnosis (26 with ASDs, 56 with atypical ASDs, 1 with Asperger syndrome)—Part of UK epidemiologic survey of PDD; gastrointestinal symptom occurrence assessed by community pediatrician alone or with parent questionnaire
      Nikolov et al19 (2009)23% with moderateb or severec gastrointestinal problems, primarily constipation and diarrhea2% with >1 moderateb or severec gastrointestinal problem172Children with PDDs (88% with diagnosis of ASDs, 8% with PDD-NOS, 4% with Asperger syndrome); 145 boys, 27 girls; mean age: 8.3 ± 2.6 y (range: 5–17 y)—Children enrolled in 1 of 2 multisite randomized clinical trials conducted by the RUPP Autism Network; presence of gastrointestinal disorder determined by medical history and/or interview with primary caretaker using screening questionnaire
      Molloy and Manning-Courtney20 (2003)24% with ≥1 chronic gastrointestinal symptom12% chronic diarrhea; 9% chronic constipation; 7% chronic reflux/vomiting; 2% abdominal pain; 2% gaseousness137General population of children with ASDs attending autism clinic and not referred to gastroenterologist for assessment of gastrointestinal symptoms—Single-site study
      Ming et al21 (2008)59% with gastrointestinal dysfunctionbOf the 94 (59%) with gastrointestinal dysfunction: 38% diarrhea or unformed stools; 28% constipation; 19% GER160Children with ASDs referred to and consecutively evaluated at autism center; all had validated complete history (medical and psychiatric disorder records)—Prevalence based on retrospective chart review and clinical intake forms completed by caregivers
      Valicenti-McDermott et al22 (2006)70% with ≥1 lifetime gastrointestinal symptom (vs 28% in typically developing subjects [P < .001] and 42% in subjects with other developmental disorders [P = .03])44% chronic constipation (vs 16% [P = .023] and 38%); 28% fecal encopresis (vs 2% [P = .00] and 12% [P = .012]); 18% frequent vomiting (vs 0% [P = .008 and 8%); 18% abnormal stool patternb (vs 4% [P = .039] and 2% [P = .021])50Children with ASDs aged 1–18 y followed in pediatric neurology and developmental pediatrics programs, private practices, or clinics at 2 urban centers2 control groups matched for age, gender, and ethnicity: 50 children with typical development and 50 with other developmental disordersCross-sectional study in which lifetime prevalence rates were determined by structured interviews
      Horvath and Perman13 (2002)84.1% had ≥1 gastrointestinal symptom (vs 31.2% [P < .0001]); 41.1% had ≥4 gastrointestinal symptoms (vs 5%)44% abdominal discomfort (vs 9%); 54% gaseousness (vs 19%); 34% bloating (vs 5%); 24% belching (vs 9%); 16% reflux (vs 5%)412Children with ASD diagnosis attending autism clinics in 2 cities in northeastern US43 healthy aged-matched siblingsQuestionnaires to patients at autism clinic, supplemented by interviews with parents of 116 of 412 patients
      Parracho et al23 (2005)91.4% (vs 25% in siblings and 0% in unrelated healthy children [P < .05] vs all controls)75.6% diarrhea; 55.2% gaseousness; 46.6% abdominal pain; 44.8% constipation; 43.0% abnormal feces58Children with ASDs aged 3–16 yTwo control groups: 12 siblings without ASDs and 10 unrelated healthy childrenData obtained by questionnaire
      Lightdale et al24 (2001)50% loose stools or diarrhea; ∼50% bloating, flatulence; 33% abdominal pain500Children with ASDsParental reports
      Afzal et al25 (2003)—36% moderate or severe constipation (vs 10% [P = .011]); 54.4% moderate or severe rectosigmoid loading (vs 24.1% [P < .01])103Children aged ≤18 y with formal ASD diagnosis who were referred to tertiary pediatric gastroenterology service29 consecutive children without ASDs referred to emergency department, most with abdominal painRetrospective study of abdominal radiographs
      • GER indicates gastroesophageal reflux; MMR, measles, mumps, and rubella; RUPP, Research Units on Pediatric Psychopharmacology.

      • ↵a Chronic inflammation of gastrointestinal tract (eg, ulcerative colitis and regional enteritis), celiac disease, food intolerance, and recurrent gastrointestinal symptoms (eg, diarrhea, colic, or vomiting 3 times in 6 months).

      • ↵b Gastrointestinal problem was moderate when it caused some impairment or required intervention to prevent likely impairment.

      • ↵c Gastrointestinal problem was severe when it caused impairment and required intervention.

      • d Chronic gastrointestinal dysfunction defined as diarrhea or unformed stools, constipation, gastroesophageal reflux, or bloating persisting for an estimate of >6 months.

      • e More than 4 weeks of daily painless recurrent passage of ≥3 large unformed stools.

    • TABLE 5

      Symptoms Associated With Immune-Mediated Gastrointestinal Food Allergies and Suggested Diagnostic Approaches

      DisorderMechanismSymptomsDiagnostic Approach
      Pollen-food allergy syndrome (oral allergy syndrome)IgE mediatedMild pruritus, tingling, and/or angioedema of the lips, palate, tongue, or oropharynx; occasional sensation of tightness in the throat and rarely systemic symptomsClinical history and positive SPT responses to relevant food proteins (prick-plus-prick method); ± oral challenge: positive with fresh food, negative with cooked food
      Gastrointestinal “anaphylaxis”IgE mediatedRapid onset of nausea, abdominal pain, cramps, vomiting, and/or diarrhea; other target organ responses (ie, skin, respiratory tract) often involvedClinical history and positive SPT responses or RAST results; ± oral challenge
      Allergic eosinophilic esophagitisIgE mediated and/or cell mediatedGER or excessive spitting up or emesis, dysphagia, intermittent abdominal pain, irritability, sleep disturbance, failure to respond to conventional antireflux medicationsClinical history, SPTs, endoscopy and biopsy, elimination diet, and challenge
      Allergic eosinophilic gastroenteritisIgE mediated and/or cell mediatedRecurrent abdominal pain, irritability, early satiety, intermittent vomiting, FTT and/or weight loss, peripheral blood eosinophilia (in 50%)Clinical history, SPTs, endoscopy and biopsy, elimination diet, and challenge
      Food protein–induced proctocolitisCell mediatedGross or occult blood in stool; typically thriving; usually presents in first few months of lifeNegative SPT responses; elimination of food protein → clearing of most bleeding in 72 h; ± endoscopy and biopsy; challenge induces bleeding within 72 h
      Food protein–induced enterocolitisCell mediatedProtracted vomiting and diarrhea (± blood) not infrequently with dehydration; abdominal distention; FTT; vomiting typically delayed 1–3 hours after feedingNegative SPT responses; elimination of food protein → clearing of symptoms in 24–72 h; challenge → recurrent vomiting within 1–2 h, ∼15% have hypotension
      Food protein–induced enteropathy celiac disease (gluten-sensitive enteropathy)Cell mediatedDiarrhea or steatorrhea, abdominal distention and flatulence, weight loss or FTT, ± nausea and vomiting, oral ulcersEndoscopy with biopsy of duodenum while on a gluten-containing diet; IgA; tissue transglutaminase; antiendomysial antibody; if IgA deficient, IgG tissue transglutaminase should be measured
      • FTT, failure to thrive; GER, gastroesophageal reflux; Ig, immunoglobulin; RAST, radioallergosorbent test; SPT, skin-prick test.

        Adapted from with permission from the American Academy of Allergy Asthma & Immunology from Sampson HA. J Allergy Clin Immunol. 2003;111(2 suppl):S540–S547.

    • TABLE 6

      Key Take-Away Messages

      Individuals with ASDs whose families report gastrointestinal symptoms warrant a thorough gastrointestinal evaluation.
      All of the common gastrointestinal conditions encountered by individuals with typical neurologic development are also present in individuals with ASDs.
      The communication impairments characteristic of ASDs may lead to unusual presentations of gastrointestinal disorders, including sleep disturbances and problem behaviors.
      Caregivers and health care professionals should be alert to the presentation of atypical signs of common gastrointestinal disorders in patients with ASDs.
      If a person with an ASD is on a restricted diet, professional supervision can help to identify and treat nutritional inadequacy.
      Integrating behavioral and biomedical approaches can be advantageous in conceptualizing the role of pain as a setting event for problem behavior, facilitating diagnosis, and addressing residual pain symptoms to enhance quality of life.
      Genetic assays should be included as part of the data to be collected in research protocols.
      At present, there are inadequate data to establish a causal role for intestinal inflammation, increased intestinal permeability, immunologic abnormalities, or food allergies in ASDs.
    • TABLE 7

      Areas in Need of New Knowledge

      Research ObjectiveRecommendationStatement No.
      Determine prevalence of gastrointestinal disorders in individuals with ASDsProspective multicenter studies; population-based studies; subjects with well-documented diagnosis of ASD by accepted classification methods; use of validated instruments and outcome measures3
      Develop screen for gastrointestinal disorders in individuals with ASDs that can be used by primary care and other providersProspective multicenter studies; validation by gastrointestinal specialists2, 7
      Identify behaviors associated with gastrointestinal pain/distress in persons with ASDsProspective multicenter studies; evaluation of behavioral items as useful additions to screens for gastrointestinal problems in persons with ASDs; inclusion of treatment-responsive measures of behavior in research trials of treatments for gastrointestinal problems2, 7
      Evaluate whether dietary restriction is efficacious for individuals with ASDsAdequately powered randomized, controlled trial11
      Identify role of abnormal gastrointestinal permeability in neuropsychiatric manifestations of ASDsProspective studies; properly powered and controlled5
      Determine relationship of immune dysfunction to clinical symptoms that present in patients with ASDsWell-defined studies; large sample sets; age-matched and geographically matched controls; extensive analysis of immune function17
      Determine if alteration in gut microflora is associated with either gastrointestinal or neurobehavioral symptoms in patients with ASDsUse high through-put molecular approaches to identify and quantify microbial species; selection criteria to control for antimicrobial exposure and diet19
      Clarify underlying pathophysiology and clinical aspects of ASDsDetailed description of phenotype (biological, clinical, and behavioral features) of study subjects20
      Characterize genotype of individuals with ASDs and gastrointestinal disordersInclude genetic testing for all study subjects; conduct studies in subjects with well-defined genetic syndromes with high rates of ASDs21, 22
      Identify genetic mutations that may be possible underlying causes of ASDsObtain blood samples from study subjects for banking of DNA23
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    Evaluation, Diagnosis, and Treatment of Gastrointestinal Disorders in Individuals With ASDs: A Consensus Report
    Timothy Buie, Daniel B. Campbell, George J. Fuchs, Glenn T. Furuta, Joseph Levy, Judy VandeWater, Agnes H. Whitaker, Dan Atkins, Margaret L. Bauman, Arthur L. Beaudet, Edward G. Carr, Michael D. Gershon, Susan L. Hyman, Pipop Jirapinyo, Harumi Jyonouchi, Koorosh Kooros, Rafail Kushak, Pat Levitt, Susan E. Levy, Jeffery D. Lewis, Katherine F. Murray, Marvin R. Natowicz, Aderbal Sabra, Barry K. Wershil, Sharon C. Weston, Lonnie Zeltzer, Harland Winter
    Pediatrics Jan 2010, 125 (Supplement 1) S1-S18; DOI: 10.1542/peds.2009-1878C

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    Evaluation, Diagnosis, and Treatment of Gastrointestinal Disorders in Individuals With ASDs: A Consensus Report
    Timothy Buie, Daniel B. Campbell, George J. Fuchs, Glenn T. Furuta, Joseph Levy, Judy VandeWater, Agnes H. Whitaker, Dan Atkins, Margaret L. Bauman, Arthur L. Beaudet, Edward G. Carr, Michael D. Gershon, Susan L. Hyman, Pipop Jirapinyo, Harumi Jyonouchi, Koorosh Kooros, Rafail Kushak, Pat Levitt, Susan E. Levy, Jeffery D. Lewis, Katherine F. Murray, Marvin R. Natowicz, Aderbal Sabra, Barry K. Wershil, Sharon C. Weston, Lonnie Zeltzer, Harland Winter
    Pediatrics Jan 2010, 125 (Supplement 1) S1-S18; DOI: 10.1542/peds.2009-1878C
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