Gastrointestinal Issues

GAstrointestiNal issues



Gastrointestinal problems in 15q duplication syndrome

Eur J Med Genet. 2015 Jan 5. pii: S1769-7212(14)00240-7. doi:10.1016/j.ejmg.2014.12.012. Gastrointestinal problems in 15q duplication syndrome. Shaaya EA, Pollack SF, Boronat S, Davis-Cooper S, Zella GC, Thibert RL

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Past Confernece Presentation On GI ISSUES In dup15q syndrome


Mark Corkins, M.D., C.N.S.C., F.A.A.P.

Division Chief of Pediatric Gastroenterology, Le Bonheur Children’s Hospital

Professor of Pediatrics, University of Tennessee Health Science Center

Disclosures:    Data Monitoring Safety Board for Nestle study

Speakers Bureau for Nestle

Gastrointestinal Basics

Three basic tasks:

  1. Digestion

  2. Absorption

  3. Motility



Taking what in what is needed and then breaking it down into the basic nutrients:




Miscellaneous others: vitamins, minerals, fiber

No studies have shown any basic difficulty with digestion of any of the basic nutrients in autistic disorders


Problems with Intake

Appetite driven by three factors in humans:


Volume primarily stomach


Compiled data into the brain where processed to create appetite/hunger


Intake Issues

Multiple studies have documented intake issues in children with Dup 15q

No glucose issues

Volume issues? (More later)

Mental issues:  Functionally defined feeding problems

Food Refusal: Don’t get enough calories

Food Selectivity by Type: Eats only narrow range of nutritionally inappropriate foods

Food Selectivity by Texture: Don’t eat developmentally appropriate food textures


Food Refusal

Problem with the central processing and integration

All evaluations are normal for any biologic issue

“Programing” says that intake/weight is fine

Interventions: medication, supplements, feeding tube



Either catabolic (↓) or anabolic (↑)

Children programed for growth, adults can be static

Need to be anabolic to be healthy


GI Correlates of childhood feeding problems

Gastro-esophageal reflux was the most prevalent condition found among all children in the sample and was the factor most often associated with food refusal

Children with gastro-esophageal reflux had more severe feeding problems and higher prevalence of food refusal and dysphagia


Food Selectivity by type

Sensory issues effect preferences

Color, taste, etc.

Some very limited and skewed diets

Plenty of calories but nutritionally imbalanced


Food Selectivity by texture

Sensory as well

Prefer smooth to course

Lower to higher

Sometimes by type:  crunchy versus chewy




No studies have demonstrated any difficulties with any transporters in the GI tract

No apparent absorption issues

Old concerns about inflammation and malabsorption

    Type of IBD

    Celiac disease

    Casein and gluten sensitivity




What goes in must eventually come out

Peristalsis is another description

GI tract has several muscle layers


Organized contractions to move nutrients along

Also to mix with digestive fluids

Housekeeping function


Motility Regulation

Intrinsic: Enteric nervous system, baseline rate of motility

Foods themselves: Carbohydrates fastest, proteins in the middle and fats slowest (alter diet alter motility)

Hormonal: Thyroid best example

Central nervous system

    Regulate and modify the basal rate

    Potential to slow down or speed up





Reported in 60% of children with 15q duplication (retrospective chart review)

Slow motility leads to constipation (colon’s job to absorb water)

Selective dietary intake can lead to constipation

So does stool retention—potential for sensory issues and with-holding


Constipation Therapies

Alter diet?

Tend use stool softeners

Limited use of laxatives



May be diet related

    High juice intake

May be motility

    Usually do diagnostic studies to ensure no other cause

Diarrhea Therapy

    Alter diet?



Gastroesophageal Reflux (GER)

Reported in 56.7% of children with 15q duplication

Diagnosis cannot be made in infants on the basis of symptoms or cluster of symptoms



Primary versus secondary reflux


Lower esophageal sphincter (LES) relaxation

Impaired esophageal clearance

“Normal reflux”

Everybody has some

Increased with certain foods

Increased with overeating


Secondary reflux

Increased intra-abdominal pressure

Delayed gastric emptying

Mechanical impediments


Symptoms appear the same, treatments are different


Neurologic Influences

Previous data on “normal children”

Rates higher in children with neurologic difficulties

GER in 75% of neurologically impaired children

High rates of delayed gastric emptying with frequent vomiting

These are also the children with high rates of dysphagia


Primary or secondary?

Or both?!

Reflux Therapy

First line is acid suppression

What about surgical approach? (fundoplication)


Delayed Gastric Emptying

Vomiting/secondary reflux

Decreased appetite


Delayed Gastric Emptying Therapy:

    Alter diet?

    Medical therapies

If fundoplication get gas bloat or dumping


Intake Issues

No real appetite stimulant available (or being studied).

If malnourished may require feeding help

Behavioral interventions

    Variety and insistence early on

    Studies say even normal children require an average of 8 exposures to accept a food

    Slow gradual introduction of new foods