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26th Annual Conference. 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. Common Concerns. Is my daughter getting enough to eat? I don’t want a button”

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gastroenterology for rett syndrome
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

common concerns
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...”
objectives
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
malnutrition
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
chewing and swallowing problems
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
body mass index
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”)
tube feeding
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
gluten free casein free diet
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
pku and scd diets
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
osteopenia
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
recommendations
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
recommendations13
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
parental reporting
Parental Reporting
  • Gastrointestinal dysmotility 95%
    • Oral motor incoordination 63%
    • Gastroesophageal reflux 38%
    • Delayed gastric emptying 14%
    • Biliary tract disease 3%
    • Gas bloating ?
    • Constipation 81%
gastroesophageal reflux
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
symptoms
Symptoms
  • Irritability
  • Nighttime awakening
  • Vomiting
  • Wet burps
  • Feeding refusal
  • Wheezing
diagnostic tests
Diagnostic Tests
  • Medical history
  • UGI series
  • pH probe
  • Esophageal manometry
  • Upper endoscopy, biopsy
  • Gastric emptying scan
treatment
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)
biliary tract disease
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
gas bloating
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)
symptoms21
Symptoms
  • Air swallowing
  • Eructation (burping)
  • Abdominal distension
  • Crampy abdominal pain
  • Flatulence
  • Diarrhea
  • Poor appetite
diagnostic tests22
Diagnostic Tests
  • Medical history
  • Lab tests
    • Blood (celiac panel)
    • Stool (giardia)
  • Abdominal x-ray
  • Hydrogen Breath Test
    • Lactulose
    • Lactose
  • Upper endoscopy, biopsy
treatment23
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)
constipation
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
symptoms25
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
diagnostic tests26
Diagnostic Tests
  • Medical history
  • Abdominal, rectal exam
  • Barium enema
  • Rectal manometry
  • Rectal biopsy
  • Colonoscopy
  • Sitz markers
  • Colonic motility
treatment27
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)
summary
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