26th Annual Conference

1. 26th Annual Conference

2. Gastroenterology for Rett Syndrome Kathleen J. Motil, M.D., Ph.D. USDA/ARS Children’s Nutrition Research Center Baylor College of Medicine Houston, TX 77030

3. Common Concerns • Is my daughter getting enough to eat? I don’t want a button” • “My daughter screams constantly. I know something is wrong.” • “My daughter’s stomach is full of air by the end of the day. It must hurt.” • “My daughter won’t go to the bathroom unless I give her something. I don’t want her to become addicted...”

4. Objectives • Recognize nutritional and gastrointestinal problems in RTT/MECP2 mutations • Undernutrition, chew/swallow problems, osteopenia, vitamin D deficiency • GERD, gastroparesis, biliary tract disease, gas bloating, constipation • Understand approach to diagnosis and treatment of nutritional and gastrointestinal problems

5. Malnutrition • Poor weight gain common • Worse with increased age • Less muscle mass than body fat • Caused by inadequate dietary intake relative to functional/growth needs • Poor chewing/swallowing • Prolonged feeding time • Not related to repetitive movement • No malabsorption

6. Chewing and Swallowing Problems • Poor chewing skills • Poor tongue lateralization • Poor food bolus formation • Pooling of liquids and solids in valleculae and pyriform sinuses • Laryngeal penetration of thin liquids • Frank aspiration of liquids

7. Body Mass Index • BMI “gold standard” of nutritional status • Ratio of body weight relative to height • Normal: 25-75th %ile • Trigger: <5th %ile • Alternative feeding methods if progressive weight deficit <5th %ile • Oral supplements, enteral (“NG”) feeding tube, gastrostomy (“button”)

8. Tube Feeding • Type of tube feeding • Nasogastric, nasojejunal (short term) • Gastrostomy, gastrojejunostomy (long term) • Indications • Poor weight gain > 6 mo, loss • BMI < 5th %ile • Chewing/swallowing dysfunction • Aspiration, pneumonia • Parental request • Feeding refusal, medication/fluid administration

9. Gluten-free/Casein-free Diet • Theory: autism disorders • Convert dietary gluten, casein to gluteo-, casomorphines • Affect brain maturation and neurotransmitter function • No evidence to support GF/CF diet in RTT/MECP2 • Evaluate celiac disease before instituting diet therapy • Issues to consider • Time consuming, expense, accessibility • Nutritional inadequacies

10. PKU and SCD Diets • PKU diet inadequate protein containing foods • SCD diet inadequate CHO as energy source (protein-sparing) • Both deficient in meeting nutrient needs for growth, functional outcomes • No evidence to support their use in RTT/MECP2 mutations

11. Osteopenia • Low bone mineral content, density common, variable • Increased fracture risk • Worsens with advancing age • Risk factors include small size, anticonvulsants, immobility • Test by x-ray, DXA scan • Treatment strategies unclear • Dietary calcium, vitamin D important • Bis-phosphonates impede mineral resorption, deposition

12. Recommendations • DRI-for-age Ca • <4 y = 500 mg/d • 4-8 y = 800 mg/d • 9-18 y = 1300 mg/d • >18 y = 1000 mg/d • Milk products good Ca source • 8 oz milk = 300 mg • 1 c low-fat, plain yogurt = 415 mg • 1 oz American cheese = 175 mg • Ca supplement • 600 mg elemental Ca per tablet

13. Recommendations • Vitamin D promotes Ca absorption • Sunlight, milk vitamin D sources • DRI-for-age Vitamin D • 4-50 y = 200 IU/d • AAP recommends four 8-oz glasses of milk daily (vitamin D = 400 IU/d) • Supplement 25-hydroxyvitamin D <30 ng/mL • Risk factors? • Inherently dark skin,  sun exposure, anticonvulsant use

14. Parental Reporting • Gastrointestinal dysmotility 95% • Oral motor incoordination 63% • Gastroesophageal reflux 38% • Delayed gastric emptying 14% • Biliary tract disease 3% • Gas bloating ? • Constipation 81%

15. Gastroesophageal Reflux • Definition - passage of stomach contents into esophagus and mouth • Caused by poor motility of esophagus, LES, stomach • Treatment to control symptoms, prevent complications • Esophagitis, esophageal ulcers, stricture, Barrett’s esophagus, aspiration

16. Symptoms • Irritability • Nighttime awakening • Vomiting • Wet burps • Feeding refusal • Wheezing

17. Diagnostic Tests • Medical history • UGI series • pH probe • Esophageal manometry • Upper endoscopy, biopsy • Gastric emptying scan

18. Treatment • Diet •  Spicy food, caffeine, chocolate • Position • Upright 30 min after eating • Elevate head of bed 45o • Medications • Acid blockers (antacids, H2-receptor blockers, proton pump inhibitors) • Prokinetics • Surgery (fundoplication)

19. Biliary Tract Disease • Prevalence similar to general population • Types of problems • Cholecystitis (inflammation) • Cholelithiasis (gallstones) • Biliary dyskinesia (dysmotility) • Found primarily in older persons • Usual symptom abdominal pain • Usual diagnostic test abdominal ultrasound, HIDA scan • Surgical treatment for symptoms • Request for medical record review

20. Gas Bloating • Definition - gastrointestinal gas trapping, abdominal distention, worse as day progresses • Caused by air swallowing, malabsorption (celiac disease, lactose intolerance, giardia), constipation (small bowel bacterial overgrowth) • Treat to control symptoms, prevent complications • Pneumoperitoneum (rare)

21. Symptoms • Air swallowing • Eructation (burping) • Abdominal distension • Crampy abdominal pain • Flatulence • Diarrhea • Poor appetite

22. Diagnostic Tests • Medical history • Lab tests • Blood (celiac panel) • Stool (giardia) • Abdominal x-ray • Hydrogen Breath Test • Lactulose • Lactose • Upper endoscopy, biopsy

23. Treatment • Diet • Modify CHO beverage, sorbitol, legume consumption • Modify dairy with lactase enzyme product • Initiate gluten-free diet for celiac disease • Medications • Anti-gas (simethicone) • Antibiotics • Laxatives (polyethyleneglycol, milk of magnesia)

24. Constipation • Definition – difficulty having bowel movements • Infrequent bowel movements < 2/week, hard stools, +blood • Causes - functional, structural (anal stenosis), neuromuscular (Hirschsprung disease), endocrine (hypothyroidism), drugs (codeine, phenytoin) • Treat to control symptoms, prevent complications • Fissure, impaction, volvulus

25. Symptoms • Bowel movements < 2/wk • Change in stool consistency (hard, overflow diarrhea) • Blood on stool • Abdominal distention, pain • Flatulence • Urinary tract infection • Feeding refusal, vomiting

26. Diagnostic Tests • Medical history • Abdominal, rectal exam • Barium enema • Rectal manometry • Rectal biopsy • Colonoscopy • Sitz markers • Colonic motility

27. Treatment • Diet • Fiber (fruits, veggies, wheat dextrin products) • Sorbitol-containing fruits • Probiotics ? • Medications (“softeners, pushers”) • Polyethylene glycol, Milk of Mg • Lubiprostone ? (>18 y) • Suppositories • Enema (disimpact) • Beware of herbals • Physical activity (physical therapy)

28. Summary • Nutritional, gastrointestinal problems common in RTT/MECP2 mutations • Goal is to be proactive in diagnosis and treatment to maintain quality of life • Any symptom that causes parental concern should be evaluated by a physician. • RTT team physicians willing to consult with your local physicians