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Gastrointestinal or GI motility disorders are characterized by irregular gastrointestinal tract movements, disrupting food transit from the mouth to the anus. They are caused by damage or dysfunction in gut muscles or nerves. These disorders can cause symptoms such as severe constipation, diarrhea, abdominal pain, and swallowing difficulties. Disorders can affect any segment of the GI tract and range widely in severity, from common conditions like GERD to life-threatening conditions like...
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Intrinsically disordered proteins are a group of proteins that do not fold into specific three-dimensional structures. Their structural flexibility allows them to complement ordered proteins to perform functions that are inaccessible to rigid structures. They are more common in eukaryotes than prokaryotes and may either be exclusively intrinsically disordered or hybrid proteins, consisting of a mix of ordered and disordered regions. The absence of a rigid structure in these proteins can be...
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The physiology of the gastrointestinal system begins with ingestion as food enters the mouth.
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The gastrointestinal (GI) tract, extending from the mouth to the anus, plays a pivotal role in the digestion and absorption of nutrients. This process involves both mechanical and chemical actions facilitated by various enzymes.
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Gastrointestinal disorders in Down syndrome.

Beatriz E B V Bermudez1, Camila M de Oliveira2, Mônica N de Lima Cat1

  • 1Down Syndrome Outpatient Clinic, Hospital de Clínicas, Universidade Federal do Paraná, Curitiba, Paraná, Brazil.

American Journal of Medical Genetics. Part A
|June 12, 2019
PubMed
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Gastrointestinal disorders are common in Down syndrome, affecting over 50% of patients. Chronic constipation and intestinal parasites like giardiasis were most prevalent, requiring focused clinical attention.

Keywords:
Down syndromecongenital malformationgastrointestinal diseases

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Area of Science:

  • Genetics and Human Diseases
  • Gastroenterology
  • Pediatric Medicine

Background:

  • Down syndrome is the most frequent human chromosomal disorder.
  • Gastrointestinal (GI) alterations are a significant clinical concern in individuals with Down syndrome.
  • Understanding the prevalence of GI disorders is crucial for patient care.

Purpose of the Study:

  • To determine the prevalence of various gastrointestinal disorders in a Down syndrome population.
  • To analyze a 10-year follow-up data from a specialized Down syndrome outpatient clinic.
  • To identify the most common GI conditions impacting individuals with Down syndrome.

Main Methods:

  • Retrospective review of medical files from 1,207 patients with Down syndrome.
  • Data analysis covering a 10-year follow-up period.
  • Categorization and quantification of diagnosed gastrointestinal conditions.

Main Results:

  • Over half of patients (50.7%) experienced GI changes.
  • Chronic intestinal constipation was the most prevalent disorder.
  • Intestinal parasites (22%, mainly giardiasis), GERD (14%), and malformations (5%) were also significant.

Conclusions:

  • High prevalence of GI disorders in Down syndrome necessitates vigilant clinical monitoring.
  • Early identification and management of GI issues improve development and quality of life.
  • Awareness of these conditions aids families and healthcare providers in managing Down syndrome care.