Down syndrome is a genetic condition where individuals are born with an extra copy of the 21st chromosome. This additional chromosome creates physical and cognitive difficulties. It affects a child’s normal growth, leading to abnormal physical features which get more evident at the time of growing up years.
Types of Down Syndrome
To understand what Down syndrome means, you must know its types. There are three types of Down syndrome which differ based on how an extra copy of the chromosome is present in human cells.
Here are the types of this syndrome explained in the following section to better what Down syndrome is:
Symptoms of Down Syndrome
Down syndrome babies exhibit distinct physical features in terms of behavioural, cognitive, and physical symptoms. Its severity differs from person to person.
Physical Defects Due to Down Syndrome
Cognitive Challenges Due to Down Syndrome
Behavioural Symptoms Due to Down Syndrome
Causes of Down Syndrome
An extra copy of chromosome 21 forms the error in cell division known as nondisjunction. Such error occurs at an early stage of foetus development. There is no proof of why such an error occurs, and no evidence of parents' behaviour or environmental factors could be blamed for this nondisjunction.
In the earlier section, three types of chromosomal errors have been discussed. These errors happen most of the time during the formation of eggs or sperm, leading to the person having extra chromosomes.
Let us discuss below how three types of chromosomal changes cause the level of severity in people with Down syndrome.
The complete trisomy 21, a Down syndrome chromosome, is the primary cause affecting 95% of people with Down syndrome. In the case of translocation trisomy 21, the causes are minimal, and so distinctive or cognitive challenges are found with this type of chromosomal change. Similarly, the mosaic trisomy 21 occurs at an early stage of development. It does not cause many developmental challenges for people because, in this type, the extra chromosome might get lost completely.
Diagnosis of the Down Syndrome
There are certain ways to check for the Down syndrome symptoms. It can be suggested during pregnancy through some tests or it could be diagnosed after birth. Here are the details of the screening tests to understand the signs of Down syndrome during pregnancy or the karyotype test right after birth.
Prenatal Screening Test
Screen tests can be done in two ways, one is to test the birthing parent's blood or another is an ultrasound. The healthcare provider through ultrasound will check for the possible signs of Down syndrome in babies. This could happen because prenatal screen tests do not give any signs of Down syndrome during pregnancy.
In such cases, when the condition is identified by the screening, doctors might suggest further tests such as Amniocentesis, Chorionic Villus Sampling, and Percutaneous Umbilical Blood Sampling. These tests could further detect the chromosomal changes.
Post Birth Diagnosis
Doctors check for the physical signs in Down syndrome babies. To confirm the signs, they conduct a blood test called a karyotype test. In this test, they check a small blood sample under a microscope and try to find an extra copy of chromosome 21.
Treatment and Management of Down Syndrome
There is not a single treatment for Down syndrome; however, a range of therapies and interventions can assist individuals with Down syndrome in achieving their maximum potential.
One could avail of therapy sessions to reach their full potential. The treatments for Down syndrome babies are chosen based on one’s physical and intellectual needs.
People with Down syndrome symptoms are at a greater risk of developing health problems. Many of them may require thorough treatment during childhood and adolescence. For instance, a child with this syndrome has had a heart defect since birth time; they may need surgery to get rid of this defect.
Also, some may have digestive issues, and they need to opt for a special diet throughout their life. Here are some forms of Down syndrome treatments curated for people with Down syndrome:
Early Intervention and Educational Therapy
This type of treatment includes many professionals like special educators, speech therapists, physical therapists, and social workers. The early intervention program starts right after the birth and continues till age 3. In India, the Down Syndrome Federation provides unique and family-based services to infants who experience developmental challenges.
DSFI (Down Syndrome Federation of India) offers individualised sessions to children. Sessions can be organised at the home or in any centre. These interventional programs are meant to enhance the skill sets of children with Down syndrome.
Physical Therapy
This form of therapy is essential for such children to learn motor skills like walking and moving. Physical therapy also teaches the children how to crawl and move from one side to another. The therapist also helps such children set a walking pattern so that they do not face many challenges while doing that.
Language Therapy
As the name suggests, this form of therapy helps the children in learning the language effectively. Language therapists help children with Down syndrome to get rid of any communication challenges by showing them how to imitate sounds and understand sign language or pictures until they can speak.
Occupational Therapy
This therapy introduces basic tasks to the Down syndrome baby, such as eating, getting dressed, writing, and so forth. In simple terms, this therapy helps these children to cope with regular basic functioning.
Behavioural Therapy
Children with Down syndrome may face challenges in communication that result in unending frustrations. This could even lead to the development of mental health challenges. Here, the therapist can arrange sessions for the Down syndrome individual to channel their emotion in the right order.
Counsellors help them to understand their emotional patterns and make changes to their behaviours.
Drugs and Supplements
There are no certain medications prescribed for Down syndrome. One should consult the doctors before taking any medications for this syndrome. Studies published by expert professionals have not referred to any concrete choices of medication.
However, there are a few drugs and supplements available to combat this syndrome which do not show any clear benefits.
Assistive Devices
Down syndrome babies require assistive devices to combat the physical or intellectual challenges they go through. People with hearing loss require hearing aids and someone with writing difficulties needs easier pencil or touchscreen devices. These specialised tools make their learning process easier and more effective.
Final Words
Down syndrome cannot be prevented because it is a genetic disorder. If you are having a child with this disorder, you must consult a doctor, and they will help you with the diagnosis process. If you are pregnant and want to check whether your child would have the possibility of such a syndrome or not, you can connect to the genetic counsellor. They will help you understand the importance of the prenatal test and its pros and cons.
HELP CENTRE
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Can anyone develop Down syndrome later in their life?
<p>Yes, people can develop mosaic Down syndrome later in their life. They could not even understand Down syndrome symptoms as these are very mild and sometimes, people live with the symptoms years after years without realising it.</p>
Are women with Down syndrome fertile?
<p>Most of the women with Down syndrome can bear children, whereas the men with this condition are unable to become fathers. It is observed that 35% to 50% of a birthing parent can pass this syndrome down to their babies. </p>
What is the life expectancy of Down syndrome babies?
<p>The life expectancy of the children with this condition is stated as 60 or older. One may require therapy sessions throughout their life.</p>