An additional chromosome is present in people with down syndrome. In the body, there are little “packages” of genes called chromosomes. They determine how a baby’s body develops during pregnancy and after birth, including how it shapes and operates. A newborn typically has 46 chromosomes.
One of these chromosomes, chromosome 21, has an extra copy in infants with Down syndrome. Trisomy is the medical word for having an extra copy of a chromosome. Trisomy 21 is another term used to describe Down syndrome. The newborn may experience difficulties with their mental and physical development as a result of this additional copy, which alters how their body and brain grow.
Even while some individuals with Down syndrome may act and appear alike, each one has unique skills. People with Down syndrome typically have mildly to moderately low IQs (a measure of intelligence) and speak more slowly than other children.
The following are some Down syndrome physical characteristics:
- a sagging face, particularly across the bridge of the nose
- almond-shaped eyes with an upward slope
- a brief neck
- tiny ears
- a tongue that frequently protrudes from the mouth
- On the iris (coloured region of the eye), there are tiny white dots.
- little feet and hands
- a solitary line running across the hand’s palm (palmar crease)
- tiny pinky fingers that occasionally slant toward the thumb
- Having weak muscles or loose joints
- children and adults are shorter in height
Types of Down syndrome
The three different varieties of Down syndrome. The physical characteristics and behaviours of each kind are frequently similar, making it difficult for people to distinguish between them without looking at the chromosomes.
- Trisomy 21: About 95% of Down syndrome sufferers also have Trisomy 21.2 Instead of the typical 2 copies of chromosome 21, each cell in the body in a person with this kind of Down syndrome has 3 copies.
- Translocation: This kind of Down syndrome only makes up about 3% of all cases of the condition. 2 This happens when an extra chromosome 21 is present, but it is not a separate chromosome 21; rather, it is attached or “trans-located” to another chromosome.
- Mosaic: About 2% of individuals with Down syndrome have mosaic down syndrome. Mosaic is a term for mixture or combination. Some of the cells in children with mosaic Down syndrome have three copies of chromosome 21, while other cells have the standard two copies. The characteristics of other Down syndrome children may also apply to children with mosaic Down syndrome. However, because some (or many) of them have cells with a typical number of chromosomes, they might have fewer symptoms of the illness.
Symptoms of down syndrome
You won’t feel any signs of carrying a child with Down syndrome, despite the fact that the likelihood of carrying a baby with Down syndrome can be assessed by screening during pregnancy.
Babies with Down syndrome typically exhibit some distinguishing characteristics at birth, such as:
- face with no contours
- little ears and a head
- brief neck
- enlarged tongue
- eyes that are upward-facing
- oddly shaped ears
- muscle tone issues
Although a baby with Down syndrome may be born average-sized, he or she will grow and mature more slowly than a youngster without the disorder.
Commonly minor to moderate developmental disabilities are seen in people with Down syndrome. Delays in the child’s mental and social development could indicate:
- Impulsive actions
- faulty judgement
- limited ability to focus
- slow rate of learning
Down syndrome is frequently accompanied by medical issues. These may consist of:
- a congenital cardiac condition
- loss of hearing
- bad vision
- cataracts (clouded eyes)
- hip issues like dislocations
- persistent constipation
- nap apnea (interrupted breathing during sleep)
- dementia (thought and memory issues)
- hypothyroidism (low thyroid function)
- late tooth development leading to biting issues
- Later-life onset of Alzheimer’s illness
Additionally, those with Down syndrome are more vulnerable to infections. They could suffer with infections of the respiratory system, urinary tract, and skin.
What causes Down syndrome?
In every instance of reproduction, both parents contribute genes to their offspring. Chromosomes contain these genes. Each of the baby’s cells is expected to receive 23 pairs of chromosomes, totaling 46 chromosomes, as it develops. The mother and father each contribute half of the chromosomes.
One chromosome fails to split properly in children with Down syndrome. Instead of two copies, the newborn has three copies of chromosome 21, or an additional half copy. As the brain and physical characteristics grow, this additional chromosome presents issues.
The National Down Syndrome Society (NDSS) estimates that one in 700 newborns born in the US have Down syndrome. It is the most prevalent genetic condition in the United States.
Treating Down syndrome
Although there is no treatment for Down syndrome, there are numerous support and educational initiatives that can benefit both those who have the disorder and their families. One place to look for programmes across the country is the NDSS.
The available programmes begin with early intervention. States are required by federal law to provide counselling programmes for eligible families. Special education instructors and therapists working with your child in these programmes will aid in learning:
- sensory abilities
- social abilities
- Self-care abilities
- motor abilities
- Cognitive and linguistic talents
Down syndrome kids frequently achieve developmental milestones. They might, however, pick things up more slowly than other kids.No matter their level of intelligence, children with Down syndrome need to attend school.
Public and private schools provide integrated classrooms and special education options to serve individuals with Down syndrome and their families. Students with Down syndrome benefit from great socialising opportunities at school and develop critical life skills.
Living with Down syndrome
People with Down syndrome are now living far longer than they once did. A baby born with Down syndrome frequently did not live to see their tenth birthday in 1960. Today, people with Down syndrome can expect to live an average of 50 to 60 years.
You’ll want close communication with medical experts who are familiar with the particular difficulties associated with raising a child with Down syndrome if you want to ensure their success. Along with more serious issues like leukaemia and heart problems, persons with Down syndrome may also need to be protected from simple infections like colds.
More than ever, those with Down syndrome are leading longer, more fulfilling lives. They may occasionally encounter a particular set of difficulties, but they can also go beyond those roadblocks and prosper. The success of people with Down syndrome and their families depends on creating a robust support network of knowledgeable professionals and considerate relatives and friends.
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