Medical follow-up from birth is key to preventing complications in Down syndrome.

Down syndrome, caused by the presence of an extra copy of chromosome 21, is the most common genetic condition associated with intellectual disability. Nowadays, diagnosis is typically established during the fetal stage, which requires close coordination between obstetricians and the Unit team to plan the type of delivery and postnatal follow-up with the family, as well as to anticipate possible problems and needs that may arise.

According to pediatrician María Ángeles Donoso, coordinator of pediatric care at the Down Syndrome and Special Needs Comprehensive Unit at Ruber International Hospital, individuals with this condition face various medical challenges from childhood.

High resolution image. This link will open using lightbox, there may be a context switchHRI"Among the most common problems are congenital heart defects, an increased risk of sleep apnea, and digestive disorders. Endocrine and autoimmune conditions are also common, such as thyroid dysfunction, celiac disease, diabetes, or growth issues," the doctor explains.

As individuals age, other health problems may also appear, such as visual, hearing, or orthopedic disorders, and the risk of cognitive decline and early-onset Alzheimer’s disease increases.

Advances in pediatric cardiology

One of the main medical challenges in this population is congenital heart disease. In fact, nearly half of children with Down syndrome are born with some type of heart defect. The most common is atrioventricular canal defect, although other associated cardiac malformations also exist.

Pediatric cardiologist Dr. Federico Gutiérrez-Larraya explains that regarding heart conditions that may present at birth or in the first days of life, "these are heart defects that also affect patients without Down syndrome and, in some cases, require surgical or catheter-based interventions for repair or complete correction, just as in the general population."

However, prognosis has improved significantly in recent decades. "Thanks to advances in knowledge, early diagnosis, and surgical and interventional techniques, we can now offer many of these patients the possibility of leading an almost normal life. In addition, in most cases these malformations are already diagnosed during the fetal stage, so it is necessary to provide precise, specific, and up-to-date cardiological counseling," the doctor states.

Neurological monitoring and aging

From a neurological perspective, Dr. Antonio Gil-Nagel, director of the hospital’s Epilepsy Unit, highlights that approximately 10% of people with Down syndrome develop epilepsy. "In the early years of life, generally mild epilepsies may appear, although in some cases more severe syndromes such as West syndrome or Lennox-Gastaut syndrome can occur," he explains. In adulthood, especially after the age of 40, epilepsies associated with cognitive decline may arise, such as adult myoclonic epilepsy linked to Down syndrome.

In addition, the specialist notes that the presence of an extra copy of chromosome 21 also implies a higher biological predisposition to early-onset Alzheimer’s disease. "By the age of 40, almost all individuals show neuropathological changes consistent with the disease, and by 50, more than 30% develop clinical symptoms," he points out, underscoring the importance of early detection.

Medical follow-up from childhood

Clinical follow-up during childhood and adolescence is key to the early detection of other associated medical complications.

In this regard, the head of the hospital’s Pediatrics and Adolescent Medicine Department, Dr. José Casas, explains that several health aspects must be monitored regularly. "Vision and hearing, as well as autoimmune thyroid disorders or celiac disease, should be checked at least once a year or whenever symptoms suggesting their presence appear," he notes.

Personalized cardiovascular diagnosis

In adult cardiovascular care, the hospital’s Clinical and Interventional Cardiology Department, led by cardiologist Eduardo Alegría, offers specialized evaluation for these patients.

According to the doctor, those who attend the unit "benefit from a personalized cardiovascular assessment in which previous medical history is analyzed and the necessary diagnostic tests are performed to detect potential cardiovascular diseases."

To achieve this, the hospital has advanced technologies such as echocardiography, CT scans, and state-of-the-art cardiac MRI, as well as minimally invasive interventional techniques.

The importance of comprehensive care

High resolution image. This link will open using lightbox, there may be a context switchDres. Antonio Gil-Nagel y Eduardo AlegríaTo address this clinical complexity, the hospital’s Comprehensive Unit brings together different medical specialties and diagnostic resources within the same care environment.

This model allows coordination among pediatricians, cardiologists, neurologists, endocrinologists, and other specialists, offering comprehensive evaluations, multidisciplinary follow-up, and early intervention when necessary.

"Many of the complications that may arise are predictable, but they require cross-disciplinary and continuous care from childhood through adulthood," explains Dr. Gutiérrez-Larraya.

For his part, internist Benjamín Herreros emphasizes the importance of addressing these conditions jointly. "We are aware that the diseases affecting people with Down syndrome often overlap. These are not isolated problems of the heart, lungs, or nervous system, so we analyze each case globally and develop an individualized roadmap for each patient based on their clinical trajectory and the best recommendations," he explains.

Within the framework of World Down Syndrome Day, observed this Saturday, March 21, specialists highlight the importance of continuing to advance specialized medical care based on scientific evidence, clinical research, and a humanistic, person-centered approach.

In this regard, the Down Syndrome and Special Needs Comprehensive Unit at Ruber International Hospital works in collaboration with local, national, and international organizations dedicated to Down syndrome, as well as patient associations, research foundations, and support groups. It also includes the participation of experienced family members, whose insight is key to guiding healthcare toward the real needs of people with Down syndrome and their families.

As Dr. Donoso points out, this initiative also reflects the importance of bringing research and the latest technological advances in healthcare closer to patients in order to improve the lives of people with Down syndrome. "We are at a moment in the history of medicine in which innovation and knowledge are growing exponentially, and it is essential to make them accessible with full methodological, ethical, and legal guarantees," she concludes.