What is down’s syndrome and the symptoms?

Down’s Syndrome is a genetic disorder caused when abnormal cell division results in an extra full or partial copy of chromosome 21. If you have questions about what is Down’s Syndrome and what it means for you or your loved one, this blog post will provide some helpful information.

Facts About Down Syndrome

• Down Syndrome is a genetic condition that results when someone is born with an extra copy of chromosome 21. You usually get an extra chromosome by chance, because of a change in the sperm or egg before you’re born
• In the UK around 40,000 people live with Down’s Syndrome
• Approximately 750 babies with Down’s Syndrome are born each year in the UK
• This condition is the most common chromosomal disorder and affects people of all ages, races, and economic levels
• There are three types of Down’s Syndrome – trisomy 21, mosaic trisomy 21, and translocation trisomy 21
• Some of the key risk factors include maternal age over 35 and a family history
• People with Down Syndrome typically have developmental delays and physical differences that are noticeable from birth
• Women 35 and older have a higher chance of having a baby with Down syndrome
• Down Syndrome can not be cured. People with Down Syndrome benefit from early intervention services such as physical, occupational and speech therapy

Common symptoms of Down Syndrome

The symptoms of Down Syndrome vary from person to person, but common symptoms centre around distinct physical characteristics, a wide range of intellectual disabilities and medical conditions. Let’s take a closer look at these symptoms.

Physical characteristics

People with Down Syndrome typically have distinct physical features that can be used to recognise individuals with the condition. People with Down Syndrome have characteristic facial features, such as small ears that may be low set or rotate slightly inward and eyes with an upward slant, which are often almond-shaped. They may also have smaller bodies than normal and short necks, as well as small hands, arms and legs. Additionally, some people with Down’s Syndrome may suffer from hypotonia, or poor muscle tone, which results in floppier limbs compared to those without Down’s Syndrome.

These unique physical characteristics can help medical professionals identify children born with the disorder. While there is no cure for Down Syndrome, understanding these physical traits helps us provide deeper care and support to those who face the challenges associated with it.

Intellectual Disabilities

People with Down Syndrome have unique intellectual differences from other populations. Delays in language development, communication skills and intellectual disability (cognitive impairment) and some level of learning disability. Behaviour challenges such as hyperactivity or difficulty concentrating on tasks. They may need extra support in their ability to express themselves either verbally or through gestures like sign language. Memory problems and difficulty recalling information quickly. Additionally, delays in reaching major milestones such as walking and toilet training may be seen.

Medical Conditions

People with Down’s Syndrome often present with a range of associated health conditions Common health problems include:

• Congenital heart defects and heart problems
• Vision problems such as nearsightedness or cataracts
• Hearing loss due to ear infections that are more common in those with Down Syndrome
• Leukemia
• Alzheimer’s Disease
• Breathing problems, including sleep apnea and asthma
• Thyroid problems (hypothyroidism)
• Gastrointestinal issues including constipation, blockages in their intestines, hernias, celiac disease and intolerance to lactose
• A tendency towards obesity due to decreased metabolism
• Poor coordination and balance due to low muscle tone

Despite this increased risk of health issues, many people with Down’s Syndrome reach adulthood without any major medical differences from other adults their age. It is important to note that the presence or absence of these health issues varies widely among individuals. However, it is important for people with Down’s Syndrome to receive regular medical screenings so that any abnormalities may be addressed as early as possible.

Different types of Down’s Syndrome

Down’s Syndrome can manifest in three distinct types:

• Trisomy 21, also known as nondisjunction Down’s Syndrome, is when an individual has three copies of chromosome 21 instead of two and this accounts for 95% of Down’s Syndrome cases
• Translocation Down’s Syndrome occurs in about 4%, and this occurs when a portion of chromosome 21 breaks off and attaches itself to another chromosome, resulting in some of the characteristics associated with Down’s Syndrome
• Mosaic Down’s Syndrome accounts for around 1-2%. This happens when only some cells have three copies of chromosome 21 rather than all of them

No matter which kind of Down’s Syndrome an individual has, this extra genetic material puts them at a greater risk for certain health issues that require attentive care from a physician or specialist.

Diagnostic tests

If you’re pregnant, you’ll be offered prenatal screening tests to find out your chance of having a baby with Down’s Syndrome.

Amniocentesis

An amniocentesis test is an important prenatal screening test carried out to assess the health and development of a baby. It is usually recommended for pregnant women aged 35 and above, or for those who are at high risk for certain chromosomal or genetic conditions. During the test, a sample of amniotic fluid that surrounds the baby in the uterus is collected by inserting a special needle through the mother’s abdomen. This fluid contains cells from the baby which can then be tested for signs of genetic defects like Down’s Syndrome.

Chorionic villus sampling (CVS)

Chorionic villus sampling (CVS) is a diagnostic test that can provide important health information about your baby. This procedure takes place between the 10th and 13th week of pregnancy when it is still in its early stages. During this testing, a small sample of cells called chorionic villi from the placenta is removed from the uterus through an ultrasound-guided fine needle. The cells then undergo genetic testing to check for common birth defects, such as Down’s Syndrome.

Percutaneous umbilical blood sampling (PUBS)

Percutaneous umbilical blood sampling (PUBS) is a diagnostic test that can help doctors evaluate a baby before they are born. The process involves placing a thin needle through the mother’s abdomen and uterine wall into the baby’s umbilical cord, where blood can be safely collected. This sample can provide valuable information to your healthcare provider regarding the baby’s well-being and ongoing development in utero. PUBS also help with evaluating certain medical conditions, chromosomal defects, and other abnormalities.

Tests on the child after birth

Tests on newborns for Down’s Syndrome provide an important screening service for families, ensuring that those who receive a positive result can be provided with appropriate early intervention and support.

A physical examination of the baby is performed to assess physical characteristics associated with Down’s Syndrome and if this is positive, then a karyotype test can confirm the result. The karyotype blood test looks for changes in the baby’s chromosomes to see if any cells have an extra chromosome 21. While these tests aren’t 100% accurate, they are very helpful in providing families with a clearer picture of potential outcomes.

Living with Down’s Syndrome

Advances in science and medicine have led to a significant improvement in life expectancy for individuals with Down’s syndrome. According to the Centers for Disease Control and Prevention (CDC), people born with Down’s Syndrome can now live an average of 55-60 years, compared to just 5-10 years old 60 years ago. Typical care and support from doctors, educators, therapists, and family members are incredibly important in helping people living with Down’s Syndrome to reach the medical advances now available. While the exact amount of life expectancy varies greatly depending on other health complications, providing appropriate medical care and opportunities for independence are vital components of making sure individuals reach their full potential.

If you believe your loved one has been diagnosed with Down’s Syndrome more information on how best to support them through their journey can be found by contacting the National Down Syndrome Society and the Down’s Syndrome Association for help and support.

Sources

• National Down Syndrome Society – NDSS
• Down’s Syndrome Association
• Downs Syndrome – NHS
• Downs Syndrome – CDC