Initial Autism Research Findings at Harvard - Massachusetts General

Research Experience:

à      Over 400 patients evaluated

à      Ages 14 Months to 20 Years

à      3:1 ratio of male:female patients

à      Patients undergoing endoscopic procedure all had GI symptoms of pain or diarrhea

Endoscopy Findings:

à      Esophagitis in 23 out of 111 (20%)

à      Gastritis in 14 out of 111 (12%); 4 had Helicobacter pylori

à      Duodenitis in 11 out of 111 (10%); 2 had Celiac Sprue (According to Dr. Buie, all children with ASD should get a blood test for Celiac Sprue before going on a GF diet.  Once they’re on the diet, those antibodies are gone.)

à      Eosinophilic Inflammation in 5 out of 111 (5%)

Pancreatic Function Testing:

à      Duodenal collection of pancreatic enzymes

à      10 out of 90 (11%) had low enzyme activity (This is a very high finding among general population.)

à      2 out of these 10 (20%) had total pancreatic insufficiency, 5 with multiple enzyme defects

Carbohydrate Digestion:

à      Lactase deficiency was found in 55% of ASD children tested

à      Combined deficiency of disacchraridase enzymes was found in 15%

à      Enzyme assays correlate well with hydrogen breath tests

Colonoscopy Findings:

à      Colitis was found in 11 of 89 patients (12%), none with features of Ulcerative Colitis or Crohn’s

à      Histologic (biopsy reviewed) lymphoid nodular hyperplasia was found in 15 of 89 patients (16%)

à      Eosinophilic inflammation was found in 13 of 89 patients (14%); cause or significance is unclear

Neurotransmitters:

à      Neurotransmitters are products which stimulate nerve activity

à      A recent study showed elevation of several neurotransmitters in children with autism.  These children were identified as autistic at age 15 years; the abnormal neurotransmitters were already present at birth on the heel stick blood screen.

à      Every single neurotransmitter found in the brain is also found in the gastrointestinal tract.

à      Mass General Hospital has begun to analyze rectal biopsy specimens for neurotransmitter abnormalities.

à      Well-established normals are still being clarified.

à      So far, 2 patients with profound constipation have shown a deficiency of 2 essential neurotransmitters that regulate motility.

Conclusions:

à      Autistic children commonly have GI symptoms.

à      All experience published so far is a laundry list of observational data.

à      The brain –gut connection in autism remains to be understood.

à      Evidence-based studies are necessary in order to delineate these associations.

Recommendations

à      We must pay attention not only to the intestinal complaints of these children, but consider behaviors and actions as potential symptoms.

à      We have to educate more than the families about GI issues; we must educate the professional community and involve them in the process of caring for these children.

Summary: Purpose of this Proposal

To learn about the gastrointestinal function of children with autism and determine if relationships exist between digestion, allergy, motility, and behavior.  

Contacts

Harvard Medical School/Massachusetts General Hospital

à        Timothy Buie, MD

à       Harland Winter, MD

à       Rafail Kushak, MD

Northwest Autism Foundation

à       Gleason Eakin

à       Lynn Hamersly

à       Wayne Hamersly

à       Joanne Hazel

à       Brad Parrott

à       David Humphrey

à       Mary Lynn O’Brien, MD

à       Gene Stubbs, MD emeritus

à       R. Stephen Nicholson, PhD, emeritus

à       Joe Taylor, Executive Director

Northwest Autism Foundation
(Phone) 503-557-2111 o Fax (503) 557-2156