Down syndrome is a genetic disorder caused by the presence of an extra copy of chromosome 21. It is also known as trisomy 21. Normally, each person has 23 pairs of chromosomes, for a total of 46 chromosomes. However, people with Down's have an extra chromosome 21, resulting in 47 chromosomes.
This extra chromosome causes developmental and intellectual delays, as well as physical features such as a flat facial profile, upward-slanting eyes, and a small nose and mouth. Down syndrome is the most common chromosomal disorder, affecting about 1 in every 700 births. For most individuals with Down syndrome, this abnormality causes a number of distinctive physical characteristics, as well as potential health problems.
There are several types of Down syndrome, including non-disjunction, mosaicism and shifting. Non-split is the most common type, accounting for about 95% of cases, and occurs when the extra chromosome 21 is present in every cell in the body. Mosaicism occurs when the extra chromosome 21 is present in only some of the cells and translocation occurs when a part of chromosome 21 is attached to another chromosome.
There is no cure for Down's syndrome, but early intervention, education and medical care can help children with Down's live a fulfilling life. Children with Down syndrome can have a range of abilities and disabilities, and with appropriate support and adaptations, they can participate in many aspects of society.
How common is Down syndrome?
Down's syndrome is the most common chromosomal disorder, affecting about 1 in every 700 births. Its incidence increases with maternal age, with the risk of having a child with Down's increasing significantly after the age of 35. However, most children with Down's syndrome are born to women under the age of 35, simply because more children are born to women in this age group.
When was Down's syndrome discovered?
Down's syndrome was first described by the British doctor John Langdon Down in 1866. Dr Down was working at an institution for mentally handicapped children in Surrey, England, and noticed that a group of his patients shared common physical characteristics, including a flat facial profile, small nose and mouth, and upward-slanting eyes.
Dr. Down initially referred to this condition as "Mongolian stupidity" because he believed it resembled the facial features of people from Mongolia. However, this terminology is now considered outdated and offensive. The condition was later renamed Down's syndrome in honour of Dr Down's contribution to its understanding.
It was not until the 1950s that researchers identified the genetic basis of the syndrome, which is the presence of an extra copy of chromosome 21. Since then, advances in medical technology and research have led to a better understanding of the condition and improved support for children with Down's and their families.
What causes Down's syndrome?
It is caused by the presence of an extra copy of chromosome 21. Normally, humans have 23 pairs of chromosomes, making a total of 46 chromosomes. However, people with Down's have an extra copy of chromosome 21, resulting in a total of 47 chromosomes.
This extra chromosome is usually the result of a random genetic event during the formation of reproductive cells in the mother or father. There are three main types of Down's syndrome and each has a slightly different cause:
Trisomy 21: This is the most common type and occurs when an extra copy of chromosome 21 is present in every cell in the body. Trisomy 21 is caused by an accidental error in cell division during the development of the egg or sperm.
Mosaicism: This type occurs when there is a mixture of two types of cells in the body: those with an extra copy of chromosome 21 and those with the standard two copies of chromosome 21. Mosaicism is caused by a random error in cell division that occurs after fertilisation.
Shift: This type occurs when a portion of chromosome 21 breaks off and attaches to another chromosome, usually chromosome 14. While the total number of chromosomes is still 46, there is extra genetic material from chromosome 21. The translocation can be inherited from a parent carrying a balanced translocation or it can occur as an accidental event during the formation of reproductive cells.
It is important to note that while Down syndrome is a genetic disorder, it is not usually inherited. Instead, it occurs as a result of an accidental genetic event during the formation of reproductive cells in the mother or father.
What is the chance of having a child with Down syndrome?
The likelihood of having a child with the syndrome varies based on several factors, including the age of the mother at the time of conception. Here are some general statistics:
For mothers who are 35 years old, the probability of having a child with Down syndrome is about 1 in 350.
For mothers who are 40 years old, the probability is about 1 in 100.
For mothers who are 45 years old, the chance is about 1 in 30.
It is worth noting that most children with Down's syndrome are born to women under the age of 35, simply because more children are born to women in this age group. However, the likelihood of having a child with Down's increases with the age of the mother.
Apart from older pregnancy, another factor that increases the likelihood of having a child with Down's syndrome is the birth of a previously affected child by the same parents.
It is also important to remember that these statistics are just general guidelines and individual risk factors may vary. If you have concerns about your risk of having a child with Down syndrome, you should speak to a healthcare professional who can provide more specific information based on your individual circumstances.
How is Down syndrome diagnosed?
Down syndrome can be diagnosed during pregnancy or after the baby is born. Here are some common methods for diagnosing the syndrome:
Prenatal screening: prenatal screening can detect Down syndrome during a pregnancy. These tests can show if there is an increased risk of Down's syndrome in the fetus. Prenatal screening includes blood tests and ultrasound scans. If a diagnostic test indicates an increased risk, further diagnostic tests may be recommended.
Diagnostic tests: These tests can confirm if the fetus or baby has Down syndrome. Diagnostic tests include chorionic villus sampling (CVS), amniocentesis and percutaneous umbilical blood sampling (PUBS). These tests involve taking a sample of cells from the placenta, amniotic fluid or umbilical cord and testing them for the presence of an extra copy of chromosome 21.
Physical examination: After a baby is born, the doctor can often make a preliminary diagnosis of Down syndrome based on physical features such as a flat facial profile, small nose and mouth, and eyes that slant upward. However, a definitive diagnosis requires genetic testing.
Newborns with Down syndrome have at least one of the following characteristics: they usually have a flat facial profile, small nose and mouth, long tongue, horizontal facial contour, and smaller ear and eye size.
It is worth noting that prenatal diagnostic tests (prenatal screening) can only indicate an increased risk of Down syndrome and not a definitive diagnosis. Diagnostic tests are more invasive and carry a low risk of complications, so they are usually only recommended for women who have a higher risk of having a baby with Down's syndrome based on age, family history or other factors.
What impact does Down's syndrome have on society?
Down's syndrome has a significant impact on society, both on the individuals affected by the condition and their families. Here are some of the ways in which Down's syndrome affects society:
Healthcare: people with Down's often need specialist medical care, including regular check-ups and monitoring for conditions such as heart defects, hearing loss and vision problems. This can put a strain on the healthcare system.
Education: children with Down's often need specialist education and support, which can be costly for schools and families. However, with appropriate support and adaptations, many children with Down syndrome are able to learn and participate in mainstream education.
Employment: People with Down syndrome often face barriers to employment, including discrimination and lack of access to vocational training and support services. This can lead to higher rates of unemployment and poverty among people with Down's syndrome.
Advocacy: Down syndrome advocacy groups and organisations play an important role in raising awareness of the condition, defending the rights of children with Down syndrome and promoting inclusion and acceptance in society.
The statement that men with Down's syndrome are sterile is incorrect. Men with Down's syndrome can have children, although the likelihood of reproduction is reduced.
With appropriate support and adaptation, people with Down's syndrome can participate in many aspects of society, including education, employment and social activities.
Preferred language guide
Here are some general guidelines:
Use human-centred language: This means putting the person before the disability. For example, instead of saying "a child with Down's syndrome", say "a child with Down's syndrome".
Avoid negative or derogatory language: Language that is derogatory or stigmatizing can harm people with disabilities. Avoid using terms such as "retarded," "handicapped," or "mentally disabled."
Use specific, accurate terminology: When referring to a specific disability, use precise terminology. For example, use "Down syndrome" instead of "mongoloid" or "intellectual disability" instead of "mental retardation".
Respect individual preferences: People with disabilities may have their own preferences for how they prefer to be referred to. If you are unsure, ask the person how they would like to be addressed.
Be sensitive to cultural differences: Cultural norms and beliefs can affect how people with disabilities are treated and referred to. Be sensitive to these differences and respect different cultural perspectives.
Overall, it is important to remember that people with disabilities are first and foremost individuals and that their disability is just one aspect of themselves. By using respectful and inclusive language, we can promote understanding and acceptance of people with disabilities.
Risk factors for down syndrome
There are several risk factors that increase the chance of having a baby with Down's syndrome. These include:
Age of the mother. However, most children with Down's syndrome are born to women under the age of 35, simply because more children are born to women in this age group.
Family history: If a parent or sibling has Down syndrome, the risk of having a baby with the condition is higher.
Previous child with Down's syndrome: If a couple has had a previous child with Down's syndrome, the risk of having another child with the condition is higher.
Genetic mutations: Certain genetic mutations can increase the risk of having a child with Down syndrome, including translocation and mosaicism.
Prenatal screening and diagnostic tests can provide more specific information about a person's risk of having a baby with Down syndrome.
How is Down syndrome treated?
There is no cure for Down's syndrome, but early intervention, education and medical care can help people with Down's syndrome live a fulfilling life. Here are some common treatments and interventions for Down syndrome:
Early intervention: Early intervention programs can provide specialized support and services for infants and young children with the syndrome. These programs may include physical, occupational and speech therapy, as well as social and emotional support for families.
Special education: children with down often need specialized education and support, which may include individualized education plans (IEPs) and accommodations such as extra time on tests, modified tasks, and assistive technology.
Medical care: Regular medical checkups and follow-up can help manage any complications associated with the syndrome, including heart damage, hearing loss and vision problems. Medications may also be prescribed to manage specific health conditions, such as thyroid problems or seizures.
Behavioural and emotional support: people with the syndrome may benefit from support and treatment to manage behavioural and emotional issues such as anxiety, depression and ADHD.
Inclusion and advocacy: Inclusion and advocacy efforts can help promote acceptance and understanding of people with Down syndrome and support their participation in society.
Health professionals and educators can work with families to develop an individualized plan of care that addresses the unique strengths and challenges of the individual.
Who is involved in my childcare team?
The members of the care team for a child with Down's syndrome may vary depending on the needs of the individual, but below are some common members who may be involved:
Pediatrician: A pediatrician is a physician who specializes in the care of infants and children. A pediatrician may provide regular medical exams, monitor for any health problems or complications related to the syndrome, and refer to specialists as needed.
Developmental pediatrician: A developmental pediatrician specializes in evaluating and managing developmental and behavioral issues in children. He or she may be involved in the diagnosis and management of developmental delays and cognitive disabilities associated with the syndrome.
Occupational Therapist: An occupational therapist can help children with the syndrome develop skills needed for daily living, including fine motor skills, self-care skills, and play skills.
Physiotherapist: A physical therapist can help people with Down syndrome improve their gross motor skills and strength.
Speech and language therapist: A speech and language therapist can help children with Down syndrome improve their communication skills, including speech, language and social communication.
Special education teacher: A special education teacher can work with children with Down syndrome to develop individualized education plans (IEPs) and provide specialized instruction and support.
Behavior therapist: A behavior therapist can help children with Down syndrome manage behavioral and emotional issues such as anxiety, depression and ADHD.
Family support specialists: Family support specialists can provide emotional support, resources and advocacy for families of children with Down syndrome.
Genetic counselor: A genetic counselor can provide information and support about the genetic aspects of Down syndrome, including risks of recurrence and family planning options.
The specific members of a child's care team depend on the needs and circumstances of the individual. Working with a health care professional can help identify the appropriate members of a child's care team and develop an individualized care plan.
Original content from the Upbility writing team. Reproduction of this article, in whole or in part, without credit to the publisher is prohibited.
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