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Updated: Nov 22, 2025

In Vitro Modeling of Down Syndrome Neurogenesis Using Human-Induced Pluripotent Stem Cells
Published on: March 7, 2025
Medical conditions of children and young people with Down syndrome
D Valentini1, C Di Camillo1, N Mirante1
1Pediatric Unit, Bambino Gesù Children's Hospital-IRCCS, Rome, Italy.
Insights
Life expectancy for people with Down syndrome (DS) is increasing. This study details common health conditions in children and young people with DS, highlighting age and gender differences in their comorbidities.
Area of Science:
- Pediatric Health
- Genetics and Genetic Diseases
- Public Health
Background:
- Life expectancy for individuals with Down syndrome (DS) has dramatically improved.
- Understanding the spectrum of congenital malformations and comorbidities in DS is crucial.
Purpose of the Study:
- To describe congenital malformations and main comorbidities in a cohort of children and young people with DS.
- To analyze differences in these conditions based on age and gender groups.
Main Methods:
- Retrospective cross-sectional study at a dedicated DS center.
- Analysis of electronic health records from July 2016 to September 2017.
- Comparison of clinical conditions with the general pediatric population and between age groups.
Main Results:
- A cohort of 763 children and young people with DS was studied.
- Higher prevalence of respiratory diseases, congenital heart defects, malocclusions, and refractive errors compared to the general population.
- Upper respiratory infections and underweight were more common in younger children, while dental issues, refractive errors, obesity, and autoimmune hypothyroidism increased with age.
Conclusions:
- Children and young people with DS exhibit a high frequency of treatable medical conditions.
- The need for multidisciplinary teams is emphasized for comprehensive care of this population.
Background:
The life expectancy of people with Down syndrome (DS) has significantly increased in the last decades. We describe the congenital malformations and main comorbidities of a cohort of children and young people with DS and analyse their differences according to age and gender groups.
Methods:
This retrospective cross-sectional study was conducted at DS centre of Bambino Gesù Children's Hospital in Rome (Italy). The period for reviewing all electronic health records ran from July 2016 to September 2017. We collected data on clinical conditions and compared them with the general paediatric population. Moreover, we compared the main comorbidities, dental diseases and body mass index data between age groups.
Results:
Seven hundred sixty-three children and young people with DS included in this study were aged 7.45 ± 5.49 years. Gender distribution included 58.19% male patients. The majority of our population (71.04%) came from central regions of Italy. Respiratory diseases (19%), congenital heart defects (72.23%), malocclusions (58.62%), astigmatism (20.31%), farsightedness (16.51%), near-sightedness (12.19%) and autoimmune hypothyroidism (3.28%) were more frequent in our population compared with the typical paediatric population. Upper respiratory tract infections and underweight were significantly more frequent in the youngest children, whereas dental diseases, refractive errors, obesity and autoimmune hypothyroidism increased over age.
Conclusions:
Children and young people with DS present a high prevalence of potentially treatable medical conditions making multidisciplinary teams a mandatory need for this population.
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