What is Down Syndrome?
Down syndrome occurs when a person has a partial or full extra copy of chromosome 21. In each cell of the human body, there’s a nucleus where genetic material is stored. The genes carry the information with all of our traits grouped along a structure known as a chromosome.
The extra genetic material changes the course of development and causes multiple characteristics associated with Down’s syndrome.
Down syndrome happens by chance and can happen to anyone. Since it is a genetic condition, it doesn’t happen due to something the parents did or didn’t do before or during pregnancy.
When babies with Down syndrome receive the right care and support at an early age, it can drastically improve their quality of life and help children be active, engage in fun activities and enjoy spending time with friends and family.
Why is it Called Down Syndrome?
In 1866, an English physician named John Langdon Down described Down’s syndrome in one of his scholarly works. The accurate description of a person with Down syndrome earned Down the title of “the father” of Down’s syndrome.
Although many other people recognized the characteristics of Down syndrome and even alluded to them in art, poetry and more, the French physician Jerome Lejeune identified Down syndrome as a chromosomal condition. With the advancements in medicine, researchers determined that the extra chromosome was the cause of Down syndrome, including the different types such as mosaicism and translocation.
Signs and Symptoms of Down Syndrome
Healthcare professionals often look for signs of Down syndrome rather than symptoms, and these signs can be discovered both prenatally and after birth.
Doctors may be able to diagnose Down syndrome after birth due to physical characteristics associated with Down syndrome. Healthcare providers can also administer a chromosomal karyotype test to confirm a Down syndrome diagnosis.
Signs of Down Syndrome During Pregnancy
Mothers carrying a baby with Down syndrome don’t experience any particular signs of the baby having this condition. However, the probability of carrying a baby with Down syndrome can be assessed through screening and diagnostic tests.
Screening tests can be performed at around 11 weeks, most involving a blood test and an ultrasound. The blood tests measure varying quantities of possible markers, then used to estimate the chances of having a child with Down syndrome. However, these tests are not used to make a definitive diagnosis. On an ultrasound, some visible signs of Down syndrome may include excess skin on the back of the neck, known as nuchal translucency.
Many diagnostic procedures for Down syndrome today are available for performing prenatal diagnosis, and the two most commonly used are chorionic villus sampling or CVS and amniocentesis.
Children with Down syndrome often live happy and independent lives, benefiting from tailored, compassionate support.
What Causes Down Syndrome
Regardless of the type of Down syndrome, all people with this condition have an extra copy of chromosome 21 present in their cells. The cause for this is still unknown.
Some researches show a mother’s age contributes to having a child with Down syndrome. Some of the other factors include already having a child with Down syndrome. However, there is no precisely determined cause for Down syndrome.
Is Down Syndrome Hereditary?
The three types of Down syndrome are all genetic conditions, with approximately 1% of children with Down syndrome having a hereditary component. The hereditary factor does not cause mosaic Down syndrome and trisomy 21 types. However, one-third of people with the translocation type of Down syndrome have a hereditary component accounting for 1% of all cases.
How is Down Syndrome Diagnosed?
Down Syndrome can be diagnosed in two ways:
- Prenatally
- At birth
Screening tests help identify mothers more likely to have babies with Down syndrome; however, these tests aren’t 100% accurate. Diagnostic tests, on the other hand, are more accurate at diagnosing.
Down syndrome is often identified at birth due to certain physical features like an upward slant to the eyes, a rounded face, a deep crease in the palm and low muscle tone. However, some of these features may be present in babies without Down syndrome, so another chromosomal test called karyotype can confirm the diagnosis.
Types of Down Syndrome
There are three types of Down syndrome:
- Mosaic Down syndrome or mosaicism
- Trisomy 21 or Nondisjunction
- Translocation
Trisomy 21
Down syndrome happens as an error in cell division called “nondisjunction”. This results in a baby having three copies of chromosome 21 rather than the usual two. Before or during conception, a pair of the 21st chromosome is unable to separate, and as the baby develops, this extra chromosome is replicated in every cell of the body. Trisomy 21 accounts for 95% of the cases and is the most common type.
Mosaic Down Syndrome
Mosaicism happens as a mixture of two types of cells. Some of the cells contain 46 chromosomes, and some contain 47. The cells with 47 chromosomes contain extra copies of chromosome 21. This type is the least common form of Down syndrome and accounts for about 2% of all cases.
Translocation Down Syndrome
The translocation type accounts for about 3% of the cases of Down syndrome. The number of chromosomes in the cells remains at 46, but there is an additional full or partial copy of chromosome 21 attached to another chromosome.
Characteristics of Down Syndrome
A diagnosis of Down syndrome after birth is often based on the baby’s physical characteristics. However, there are some intellectual features associated with Down syndrome that can also be spotted in babies that don’t have Down’s syndrome.
- Physical Symptoms
Children with Down syndrome share a group of facial and physical features that are most apparent at birth. Some of the features of Down syndrome include:
- Almond-shaped eyes
- Distinctive facial features
- Small nose
- Folded, small ears
- Small neck
- A tongue that may stick out of the mouth
- A deep line in the palm of the hand
- Bigger flexibility of the extremities
- Low muscle tone
- Intellectual Symptoms
Down syndrome can also cause intellectual and behavioural symptoms that may affect a person’s ability to understand, think and interpret feelings. Some of the intellectual characteristics include:
- Delays in the development of motors skills
- Mild to moderate speech and language difficulties
- Difficulties with calculating and mastering number skills
Each child with Down syndrome will gain skills in their own time, and it’s best not to compare them to their peers or even to other children with the same diagnosis. Children with Down syndrome can learn the necessary skills with the right support and compassion.
How Many Babies Are Born With Down Syndrome?
About 1 in 1000 babies born in the UK are born with Down’s syndrome. Within the UK, there are approximately 47,000 people with Down syndrome.
How Down Syndrome Affects Physical Health
People with Down syndrome will enjoy a healthy, long, fulfilling life with an increased life expectancy rate thanks to the many advancements in medicine.
However, there are specific health problems that are more likely to occur in people with Down’s syndrome, such as:
- Gastrointestinal issues
- Upper Respiratory Issues
- Congenital heart defects
- Hearing and vision problems
- Obstructive sleep apnea
- Thyroid conditions
- Dental problems
A healthy lifestyle is essential for everyone, so keeping fit and regular exercise are known to prolong and improve the quality of life.
Treatments and Help
Since Down’s syndrome is a genetic condition, not a disease, there isn’t a cure for it. Also, there’s no perfect one-way solution to treat Down syndrome, which our clinicians understand very well.
Our clinicians create a support plan for people with Down’s syndrome based on what each person needs. The care programs include various therapies, such as occupational, physical and speech and language therapy.
However, more important is that the team at Unique Community Services also focuses on what people with Down’s syndrome like to do, which fun activities they engage in and learn about each person’s hobbies. We want to create an accepting environment or, better yet, an empowering space where people will be respected and cared for.
How Unique Community Services Supports People with Down Syndrome
As a part of our Complex Care services, Unique Community Services focuses on helping people in the comfort of their homes. Our teams take care of assistance in daily activities and personal care, improving overall mental well-being and promoting independence.
We cover every aspect of people’s needs and tailor care plans based on them. Our clinicians can support you in daily activities, implement Positive Behaviour Support plans, assist finance management and much more.
Our offices are based in Manchester and Bristol, and you can contact each office directly.
If you want to know what else we can do for you, please don’t hesitate to contact us today.
