International Down Syndrome Day

The Down syndrome is one of the most common chromosome disorders, characterized by the presence of an extra copy of chromosome 21. This genetic anomaly affects various physical and intellectual traits and has a significant impact on the lives of those affected. The World Down Syndrome Day is observed every year on March 21, raising awareness of the situation, rights, and opportunities of individuals with Down syndrome.

Recognition of Down Syndrome

The recognition of Down syndrome is made through a combination of clinical signs and genetic testing. Affected children typically live with moderate intellectual disability, characterized by an IQ of around 50. Although they face challenges in abstract thinking, many possess good language skills. They are known for their kindness and friendliness, which helps them integrate into family and social environments. With appropriate education, attention, and support, they may be able to learn and even acquire a profession. In this regard, Éva Oláh, emeritus professor at the University of Debrecen’s Department of Pediatrics, emphasizes that the role of parents and educators is crucial in their development.

Screening and Diagnosis of Down Syndrome

Screening and diagnosis of Down syndrome can be achieved through various methods, with genetic testing being the most common. Chromosome tests conducted during pregnancy allow specialists to identify genetic anomalies that may lead to Down syndrome. These tests are particularly important in high-risk pregnancies, such as when the mother’s age exceeds 35 years.

Modern molecular cytogenetic and molecular methods enable samples to be taken from fetal cells, facilitating early diagnosis. This provides parents the opportunity to make informed decisions regarding the continuation of the pregnancy. In the case of fetuses diagnosed with Down syndrome, parents may choose to terminate the pregnancy. Given this information, it is crucial for expectant mothers to regularly participate in prenatal examinations that can assist in early detection.

The genetic background of Down syndrome is closely related to the mother’s age, meaning that later childbirth may increase the likelihood of the condition. Therefore, specialists emphasize that women over 35 should pay particular attention to the examinations during their pregnancy.

Quality of Life and Social Integration of Individuals with Down Syndrome

The lifespan of individuals with Down syndrome has significantly increased in recent years, reaching up to 50-55 years. Advances in medical care, such as the use of modern antibiotics and surgical treatment for heart defects, contribute to these individuals living longer and healthier lives. The role of families and communities is especially important, as a loving environment and adequate support help them lead fulfilling lives.

To promote their social integration, it is essential for individuals with Down syndrome to participate in community and cultural events. Acceptance and inclusion play a key role in enabling those affected to become valuable members of society. Families and communities have the responsibility to support them and provide opportunities for them to discover their talents and abilities.

With proper education and support, society must also actively participate in improving the lives of individuals with Down syndrome, ensuring that the possibility of a happy and fulfilling life is accessible to everyone. Acceptance and understanding can help ensure that individuals with Down syndrome truly become equal members of their communities.