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Correlation between Down's syndrome and malformations of pediatric surgical interest
1Cattedra di Chirurgia Pediatrica and the Istituto di Genetica Medica, Università G.D'Annuzio di Pescara, Italy.
Insights
Pediatric surgeons and associations collaborated to study malformations in children with Down Syndrome (DS). Extracardiac malformations were common, with surgery improving life conditions for DS patients.
Area of Science:
- Pediatric Surgery
- Genetics
- Public Health
Background:
- Down Syndrome (DS) is associated with a high incidence of congenital malformations.
- Improved medical care has increased the life expectancy of individuals with DS, nearing 60 years.
- Understanding malformation patterns in DS is crucial for enhancing patient care and outcomes.
Purpose of the Study:
- To investigate the prevalence and types of malformations in children with Down Syndrome (DS) within a specific region.
- To assess the impact of surgical interventions on the quality of life for DS patients with associated malformations.
- To identify demographic factors, such as maternal age, associated with the occurrence of DS and its complications.
Main Methods:
- A retrospective analysis of 127 DS subjects from Abruzzo, Italy, over a 10-year period.
- Data collection focused on associated congenital malformations (cardiac and extracardiac).
- Evaluation included surgical interventions for extracardiac malformations and demographic data of mothers.
Main Results:
- 54% of DS subjects had associated malformations, with extracardiac anomalies (41%) being more prevalent than cardiac (13%).
- Gastrointestinal malformations were the most common reason for surgery in 17 out of 53 affected patients.
- Maternal age under 30 was linked to a higher birth rate of DS babies, while advanced maternal age (over 38) correlated with fewer associated malformations.
Conclusions:
- The study highlights the significant prevalence of malformations in DS patients.
- Surgical intervention for extracardiac malformations plays a vital role in improving patient outcomes.
- The findings underscore the importance of a multidisciplinary approach, involving pediatric surgeons, in the comprehensive care of individuals with Down Syndrome.
Purpose:
This is a collaborative study carried out by Pediatric Surgeons of the "G.D'Annunzio" University and the Regional Association of Down Children of Abruzzo (Italy).
Methods:
Data were collected of malformations combined with Down Syndrome (DS) during a 10-year period in a population of defined age to look for a possible improvement of the patients' life conditions. Reportedly, 50% of these patients may reach an age of about 60 years.
Results:
One hundred twenty-seven DS subjects from this region were evaluated, 54% of whom had associated malformations (13% cardiac, 41% extracardiac, and 13% both). Seventeen patients of 53 underwent surgery for extracardiac malformations, with gastrointestinal malformations prevailing. The largest number of DS babies were born from mothers under 30 years of age; this is attributed to the largest birth rate and the least prevention at this age. Mothers older than 38 years gave birth to DS babies with the lowest rate of associated malformations.
Conclusion:
The role of the pediatric surgeon in multidisciplinary assistance for DS patients is stressed.