26th Annual Conference
Download
1 / 28

Gastroenterology for Rett Syndrome - PowerPoint PPT Presentation


  • 625 Views
  • Updated On :

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”

loader
I am the owner, or an agent authorized to act on behalf of the owner, of the copyrighted work described.
capcha
Download Presentation

PowerPoint Slideshow about 'Gastroenterology for Rett Syndrome' - richard_edik


An Image/Link below is provided (as is) to download presentation

Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author.While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server.


- - - - - - - - - - - - - - - - - - - - - - - - - - E N D - - - - - - - - - - - - - - - - - - - - - - - - - -
Presentation Transcript

Gastroenterology for rett syndrome l.jpg
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 l.jpg
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 l.jpg
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 l.jpg
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 l.jpg
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 l.jpg
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 l.jpg
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 l.jpg
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 l.jpg
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 l.jpg
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 l.jpg
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 l.jpg
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 l.jpg
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 l.jpg
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 l.jpg
Symptoms

  • Irritability

  • Nighttime awakening

  • Vomiting

  • Wet burps

  • Feeding refusal

  • Wheezing


Diagnostic tests l.jpg
Diagnostic Tests

  • Medical history

  • UGI series

  • pH probe

  • Esophageal manometry

  • Upper endoscopy, biopsy

  • Gastric emptying scan


Treatment l.jpg
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 l.jpg
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 l.jpg
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 l.jpg
Symptoms

  • Air swallowing

  • Eructation (burping)

  • Abdominal distension

  • Crampy abdominal pain

  • Flatulence

  • Diarrhea

  • Poor appetite


Diagnostic tests22 l.jpg
Diagnostic Tests

  • Medical history

  • Lab tests

    • Blood (celiac panel)

    • Stool (giardia)

  • Abdominal x-ray

  • Hydrogen Breath Test

    • Lactulose

    • Lactose

  • Upper endoscopy, biopsy


Treatment23 l.jpg
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 l.jpg
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 l.jpg
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 l.jpg
Diagnostic Tests

  • Medical history

  • Abdominal, rectal exam

  • Barium enema

  • Rectal manometry

  • Rectal biopsy

  • Colonoscopy

  • Sitz markers

  • Colonic motility


Treatment27 l.jpg
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 l.jpg
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


ad