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Clinical Profile of Indian Children with Down Syndrome

Inusha Panigrahi1, Yogita Bhatt1, Shivani Malik1

  • 1Department of Pediatrics, Genetic-Metabolic Unit, Advanced Pediatric Center, Post Graduate Institute of Medical Education & Research, Chandigarh, India.

Journal of Pediatric Genetics
|January 23, 2023
PubMed

Insights

This study highlights the frequent cardiac anomalies and other health issues in children with Down syndrome (DS). Understanding these complications is crucial for managing the health of individuals with DS.

Area of Science:

  • Genetics
  • Pediatrics
  • Clinical Medicine

Background:

  • Down syndrome (DS) is a genetic disorder associated with a wide range of health complications.
  • Phenotypic variability and specific comorbidities in DS patients require thorough investigation.

Purpose of the Study:

  • To investigate the phenotypic variability and associated complications in a cohort of children and adolescents with Down syndrome.
  • To identify the prevalence of common and rare health issues in DS patients.

Main Methods:

  • Retrospective study design.
  • Analysis of data from 208 patients with Down syndrome admitted to a Genetics Metabolic Unit.
  • Evaluation of phenotypic characteristics and associated medical conditions.

Main Results:

  • Cardiac anomalies were prevalent, affecting 62% of patients, with atrial septal defects being the most common (30% of cardiac cases).
  • Hypothyroidism and developmental delay were observed in approximately 31% of cases.
  • Neonatal cholestasis occurred in 14% of patients. Rare conditions like Moya-Moya disease and atlanto-axial dislocation were also noted.

Conclusions:

  • Children and adolescents with Down syndrome exhibit significant phenotypic variability and a high burden of associated complications, particularly cardiac defects.
  • Early identification and management of these complications are essential for improving health outcomes in the DS population.

Keywords:
aneuploidyatrioventricular septal defectdouble aneuploidykaryotypingtrisomy 21

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