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Gastro-Intestinal Issues in Down Syndrome

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Contents

GI malformations in Down Syndrome

Embryology of malformations in upper mid-gut

Tracheo-Esophageal Fistula

Incidence/Clinical Presentation/Treatment

Other Syndromes associated with TEF

Outcome in DS vs non-DS

Duodenal Stenosis

Incidence/Clinical Presentation/Treatment

Outcome and Long term issues

Annular Pancreas

Incidence/Clinical Presentation/Treatment

Outcome

Hirschprung’s Disease

Genetics of Hirschprung’s Disease

Other Syndromes associated with Hirschprung’s disease

Treatment

Outcomes

Issues to Explore

Why these specific malformations in Trisomy 21

Common threads between DS and other teratogens that cause same constellation of malformations (upper mid gut; cardiac, digits...)

Dysmotility in Down Syndrome  ?form fruste of malformation

2.

Motility Disorders in Down Syndrome

Constipation and Down Syndrome

GERD and Down Syndrome

Issues to ponder

? Gastric emptying in Down Syndrome

GABA and disorders of GI motility

3.

Appetite Regulation in Down Syndrome

Genetic conditions associated with appetite dysregulation

Prader Willi Syndrome

Issues to ponder

Neurological and Metabolic basis of appetite regulation

Taste and appetite regulation in children with neurological conditions

Leptin in Down Syndrome

Correlation of appetite regulation with cognitive function in DS

4.

Nutrition in Down Syndrome

Growth Charts in DS

History

Issues to ponder: The case for new Growth Charts

Feeding Problems in Infancy

Intermediary Metabolism in Down Syndrome

Vitamin and trace element status of children with DS

Free radicals: State of the Science

Basal Metabolic Rate in Down Syndrome

Obesity in Down Syndrome

5.

Hepatology and Down Syndrome

Lethal hepatic cholestasis in DS

TGF beta and cholestasis in infancy in DS

6.

GI immunology and Down Syndrome

Celiac Disease and DS

Tissue Transglutaminase (TTG) and its expression in CNS

7.

GI issues related to behavior in Down Syndrome

Toilet Training in children with DS

Rumination in Children with Down Syndrome

Oromotor function and feeding therapy in children with DS and food aversion

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