Quality of life in down syndrome in Brazil

Background: Down syndrome (DS) is the most common identified genetic cause of developmental delay and intellectual disability. DS is characterized by a regular trisomy 21 in 95% of the cases and 5% in the form of translocation and/or mosaicism (Malt et al., 2013). Because of the presence of extra genetic material from chromosome 21, children with Down syndrome have medical conditions, cognitive impairment, multiple malformations, such as congenital heart defect, present in 50% of the patients. While there have been scientific advances in general health, a few people with DS have an independent life, most of them live with their parents, some work and few are married or have a post-secondary education. Their potential and capacity are not considered, nor are effective therapeutic approaches used to develop them to the fullest.

Objective: To assess the major determining factors of quality of life among patients with Down syndrome in a large cohort in Brazil.

Methods: Data were gathered from the medical files of 1,187 patients with Down syndrome. Patients older than 4 years-old were included, and assessed to factors of quality of life, based on a Portuguese validated version of the Personal Outcomes Scale.

Results: Parents finished high school education or higher of 44%. The percentage of professionally active mothers was 54.8%. The prenatal follow-up was 94.8% and the pregnancies progressed to normal delivery in 52.8%. The prematurity index was 13.4%. Good quality of life was associated with female sex, age at medical first visit less than four months, higher parental education, active professionally mother, prenatal care, no use of alcohol or family psychiatric disorder, genetic mosaicism, no autism nor epilepsy.

Conclusions: Many factors may influence the quality of life of patients with DS and should be the object of health policies and attention to patient care. Good quality of life was associated with female sex, age at medical first visit less than four months, higher parental education, active professionally mother, prenatal care, among others.

 

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No conflict of interest has been declared by the author(s).

Publication History

Article published online:
18 September 2023