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Co-occurring conditions in Down syndrome: Findings from a clinical database

Nicole T Baumer1,2,3, Margaret A Hojlo1, Katherine G Pawlowski1

  • 1Division of Developmental Medicine, Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts, USA.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|October 24, 2023
PubMed

Insights

Children with Down syndrome (DS) frequently experience vision, ear/hearing, and gastrointestinal issues. Neurodevelopmental and mental health conditions are common and associated with more medical problems in DS.

Area of Science:

  • Pediatric Medicine
  • Genetics
  • Developmental Neuroscience

Background:

  • Individuals with Down syndrome (DS) often have co-occurring medical and neurodevelopmental conditions.
  • Systematic study is needed to understand the prevalence and impact of these conditions on neurodevelopmental outcomes.

Purpose of the Study:

  • To describe the prevalence and relationships of medical, neurodevelopmental (ND), and mental health (MH) conditions in children with DS.
  • To assess how medical, ND, and MH conditions interact in this population.

Main Methods:

  • A prospective clinical database was created for individuals with DS at a specialty hospital.
  • Condition data were collected via caregiver and clinician reports from 599 participants.
  • Frequencies and comparative statistics were used to analyze condition relationships.

Main Results:

  • High prevalence of vision (72.5%), ear/hearing (71.0%), gastrointestinal (61.3%), and respiratory (45.6%) issues were observed.
  • Neurodevelopmental (ND) and mental health (MH) conditions, including autism spectrum disorder and ADHD, affected approximately 25% of children.
  • Children with ND/MH conditions showed a higher frequency of medical issues, particularly vision, ear/hearing, gastrointestinal problems, and congenital heart disease (CHD).

Conclusions:

  • Systematically collected data reveal a high prevalence of co-occurring medical, ND, and MH conditions in children with DS.
  • Clinical care for individuals with DS must consider the complex interplay between medical conditions and neurodevelopment.

Keywords:
Down syndromeclinical databaseco-occurring medical conditionsco-occurring neurodevelopmental disorders

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