Nutrition and Gastroenterologyfor MECP2 Duplication Syndrome
Kathleen J. Motil, M.D., Ph.D.USDA Children’s Nutrition Research
CenterBaylor College of Medicine
Houston, TX 77030
Growth and Nutritional StatusØ Patterns of growth vary
Ø Normal height, short statureØ Genetic downsizing at puberty?Ø Normal, poor, excess weight gainØ Less muscle mass than body fat?
Ø Poor growth caused by inadequate dietary intake relative to growth needsØ Poor chewing/swallowing skillsØ GE reflux, constipation, seizuresØ Unlikely intestinal malabsorption
Chewing and Swallowing ProblemsØ Features
Ø Poor chewing skillsØ Poor tongue lateralization,
food bolus formationØ Pooling of liquids/solids in
back of throatØ Laryngeal penetration of thin
liquidsØ Aspiration of liquids
Ø OT/speech therapy for oral motor feeding skillsØ “Don’t use it, lose it!”
Body Mass Index
Ø BMI “gold standard” for nutritional statusØ Ratio of body weight to height Ø Normal: 25-75th %ileØ Trigger: <5th %ile, >85th %ile
Ø Alternative feeding methods if BMI <5th %ileØ Oral supplements, nasogastric
or gastrostomy tube feeding Ø Dietary energy reduction if BMI
>85th %ile
Low Bone MassØ Low bone mineral content, low
bone mineral density Ø Minimal information in MECP2
duplicationØ Increased fracture risk
Ø Risk factors include poor diet, anticonvulsants, immobility
Ø Test by x-ray, DXA scan Ø Treatment strategies
Ø Dietary calcium, vitamin D important
Recommendations: Calcium
Ø DRI-for-age CaØ <4 y = 700 mg/dØ 4-8 y = 1000 mg/dØ 9-18 y = 1300 mg/dØ >18 y = 1000 mg/d
Ø Milk/yogurt good Ca sourceØ 8 oz milk = 300 mgØ 1 c low-fat, plain yogurt = 415 mgØ 1 oz American cheese = 175 mg
Ø Ca supplementØ 600 mg elemental Ca per tablet
Recommendations: Vitamin D
Ø Vitamin D promotes Ca absorptionØ Risk factors for deficiency
Ø Dark skin, ¯ sun exposure, anticonvulsants
Ø Sunlight, milk sources of vitamin DØ DRI-for-age Vitamin D
Ø 1-70 y = 600 IU/dØ AAP recommends four 8-oz glasses
of milk daily (vitamin D = 400 IU/d)Ø Supplement if Vitamin D <20 ng/mL
Gastroesophageal RefluxØ Definition - passage of
stomach contents back into esophagus
Ø Caused by poor motility of esophagus, LES, stomach
Ø Symptoms: Irritability, nighttime awakening, vomiting, wet burps, regurgitation, feeding refusal, coughing, wheezing
Ø Tests: UGI series, pH probe, gastric emptying scan
TreatmentØ Diet
Ø ¯ Spicy food, caffeine, chocolate, citrus (OJ, tomato)
Ø Position Ø Upright 30 min after eatingØ Elevate head of bed 45o
Ø MedicationsØ Acid blockers (antacids,
H2-receptor inhibitors, proton pump inhibitors)
Ø ProkineticsØ Surgery (fundoplication)
Gas BloatingØ Definition - gas trapping in
stomach, intestines; tummy distention worse end of day
Ø Caused by air swallowing, aggraved by constipation (bacterial overgrowth)
Ø Symptoms: air swallowing, burping, distension, abdominal pain, flatus, diarrhea, poor appetite
Ø Tests: abdominal x-ray, lactulose breath test, celiac
TreatmentØ Diet
Ø Modify CHO beverage, sorbitol, legume consumption
Ø Modify dairy with lactase enzymeØ Gluten-free diet for celiac disease
Ø MedicationsØ Anti-gas Ø Antibiotics Ø Probiotics (Lactobacillus,
Bifidobacterium)Ø Laxatives
Constipation
Ø Definition – difficulty having bowel movements
Ø Causes - functional, neuromuscular (Hirschsprung), endocrine (hypothyroid), drugs (phenytoin)
Ø Symptoms: infrequent motions < 2/week, hard stools, +blood, straining with evacuation, abdominal distention, pain, flatus, urinary tract infection, feeding refusal, vomiting
Ø Tests: Rectal exam, barium enema
TreatmentØ Diet
Ø Fiber (fruits, veggies, cereal)Ø Sorbitol-containing fruitsØ Probiotics (Lactobacillus)
Ø Medications Ø Softeners: Polyethylene glycolØ Pushers: Milk of MagnesiaØ Pullers: suppositories Ø Disimpact: enemas, GT lavage
Ø Physical activity (physical therapy)
SummaryØ Nutritional, gastrointestinal
problems common in MECP2 mutations
Ø Goal: be proactive in diagnosis and treatment to maintain quality of life
Ø Any symptom that causes parental concern should be evaluated by a physician
Ø Have your physicians consult MECP2 duplication team with questions