Article written in collaboration with Professor Cinzia Ciccacci, lecturer in Medical Genetics at UniCamillus
March 21st holds significant meaning, and not just as the arrival of spring: it is also the day we observe WDSD – World Down Syndrome Day. Also known as Trisomy 21, Down syndrome (or DS) is a genetic condition where an extra chromosome is present in chromosome 21, affecting both the development and health of individuals with this condition.
The date for WDSD is no coincidence: it represents the 21st day of the third month, echoing the trisomy 21. Recognized by the United Nations since 2012, its goal is to raise social awareness about this issue, emphasizing the dignity and individuality of those living with this syndrome. Despite there being no cure at present, people with DS can still lead a quality life in society. Therefore, WDSD aims to improve services for these individuals in the realms of employment, education, and personal choice.
In Italy, there are about 40,000 individuals with DS, roughly 1 child in every 1200 births. The syndrome can be diagnosed during pregnancy (through chorionic villus sampling or amniocentesis) or at birth, and it causes both a delay in mental development and distinctive physical traits (almond-shaped eyes, nuchal folds, small and low-set ears, small head, flattened face, short stature, and muscle hypotonia). Additionally, DS increases the risk of heart defects, thyroid issues, leukaemia, and immune system anomalies: unsurprisingly, life expectancy is slightly shorter than average, around 62 years.
It’s a genetic, not hereditary, condition, with incidence rising with the parents’ reproductive age.
Though incurable, if addressed correctly and early, through education and rehabilitation, individuals with DS can maximize their cognitive, physical, and social abilities, leading to a healthy, emotionally, academically, and professionally fulfilling life. It is not uncommon for individuals with DS to live independently, engage in demanding jobs, and enjoy satisfying relationships.
People with DS are aware of their uniqueness compared to their family members, but this shouldn’t lead to discrimination or stereotypes: the difference lies in the serenity the family and social network transmit to the child.
For this very reason, the theme of WDSD 2024 is #EndTheStereotypes, aiming to restore individual dignity to every person with DS.
But what are the key challenges in addressing Down syndrome currently, and where is research headed for potential therapeutic treatments? We asked this to Professor Cinzia Ciccacci, lecturer in Medical Genetics at UniCamillus.
What are the current diagnostic approaches for detecting Down syndrome during pregnancy, and what are their advantages and limitations?
“Down syndrome, also known as trisomy 21, is a genetic condition caused by a chromosomal anomaly, specifically an extra copy of chromosome 21. During pregnancy, it’s primarily the first trimester prenatal screening tests that indicate the likelihood of the fetus having trisomy 21. Another technique, increasingly used alongside prenatal screenings, is NIPT, a non-invasive procedure that detects foetal cells in the mother’s blood with a simple blood draw, analysing any chromosomal alterations in the fetus. However, these tests – both the prenatal screenings and NIPT – are probabilistic, not diagnostic. Hence, in pregnancies with risks identified in screenings or following NIPT analysis, diagnostic testing is necessary. Diagnostic tests, such as amniocentesis and chorionic villus sampling, are invasive but confirm or rule out the condition. Though generally safe when performed by experienced operators in well-equipped settings, they still carry a small risk of complications, including the chance of miscarriage.”
What’s the role of genetics in understanding Down syndrome and developing potential treatments or therapeutic interventions?
“Genetics plays a crucial role in understanding Down syndrome and identifying potential treatments or interventions. Genetic studies can shed light on the mechanisms underlying the syndrome, particularly how the expression of genes on chromosome 21 – which is excessive in Down syndrome patients – can lead to cognitive disability, or how these individuals might develop certain complications over their lifetimes. For example, people with Down syndrome, besides cardiac issues, and a certain susceptibility to lung infections, may experience vision and hearing problems, obesity, and even a heightened risk of developing early-onset Alzheimer’s disease. The full aspects and
mechanisms through which the approximately 300 genes on chromosome 21 affect the condition’s phenotype are not yet fully understood. Better understanding of these mechanisms could pave the way for new therapeutic approaches, such as gene therapies that could correct or modulate the expression of genes associated with the syndrome. Furthermore, genetics also helps determine the severity of the disease phenotype. Not all patients have complete trisomy: those with a less severe phenotype generally have the chromosomal alteration in only some of their cells.”
What are the most significant challenges faced by individuals with Down syndrome and their families in managing the condition and accessing care and services?
“The key challenges for people with Down syndrome and their families mainly involve managing comorbidities that can arise throughout the patients’ lives, such as heart issues, thyroid disorders, and gastrointestinal problems. Individuals with Down syndrome may require specialised medical care and regular monitoring. The life expectancy of people with trisomy 21 has greatly improved in recent decades, largely due to advances in medicine, particularly in treating and managing heart conditions often seen in these patients. Other significant challenges include difficulties in the educational and employment sectors, as there are not always targeted tools and opportunities for people with this condition. It’s essential to promote inclusive policies, provide adequate resources and services, and support the full participation and independence of individuals with Down syndrome in society.”
What are the recent advances in Down syndrome research, and what are the future prospects for improving the quality of life for those affected?
“Studies on the genetics of Down syndrome have led to a better understanding of the underlying molecular mechanisms and pathological pathways involved. This has paved the way for the development of targeted therapies that can modulate specific overexpressed genes. Research is exploring innovative treatments for Down syndrome, such as gene therapy. These therapies aim to correct the genetic imbalances associated with the condition or modulate the involved pathological pathways, with the goal of improving cognitive function and reducing comorbidities.”
How can the medical and scientific community contribute to raising public awareness and addressing stereotypes and discrimination associated with Down syndrome?
“Overcoming stereotypes about Down syndrome requires a collective commitment at the social, educational, and cultural levels. The medical and scientific community can contribute through training and dissemination activities. It’s vital to provide accurate and up-to-date information about Down syndrome to families, teachers, and the general public. It’s important to understand that individuals with Down syndrome are not all the same. Their personality traits and health characteristics vary from person to person. Promoting awareness of this syndrome, including through targeted programs in schools, would be desirable. I believe that the representation of individuals with this syndrome in advertisements and TV programs can also help dismantle stereotypes.”