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