What is down syndrome?
Down syndrome, as a condition, occurs when a baby is born with an additional copy (full or partial) of their 21st chromosome. An error in gene cell division during early development results in the additional chromosome during pregnancy.
Chromosomes effectively contain the genetic material that develops (and maintains) our bodies in the early stages of life, and throughout our lives. These genes effectively ‘carry the code’ that is responsible for human development, and all of our inherited traits. Every cell in the body contains a nucleus where these genes are stored.
Our genes, effectively make up how the human body looks and functions. Everything from how we digest food, to the colour of our hair and eyes is determined by our genes. The correct number creates the most ideal human form. When abnormal division occurs, such as that which happens with down syndrome, effects are far-reaching. A human embryo (fertilised egg and sperm) contains 46 chromosomes (23 pairs). One half of these chromosomes comes from a woman’s ovum (egg cell) and the other half from a man’s sperm cell.
In the case of down syndrome, a developing foetus may inherit two 21 chromosomes from the mother (instead of just one) and one from the father’s side, resulting in three copies of the gene. The extra copy effectively alters the course of human development and causes the irreversible physical and developmental traits and characteristics of this genetic condition.
Down syndrome thus, is a lifelong genetic condition that can neither be corrected nor cured. Some disabilities which develop may shorten a person’s life expectancy, but much has been developed in the way of caring and treating the condition to ensure a longer and enhanced quality of life.
In the early days of understanding this condition, babies and young children barely lived beyond childhood. Now, with enhanced understanding of the disorder, children with down syndrome can grow into fully functional adults with relatively self-sufficient lives.
The nature of disability varies from one affected person to another. Most instances of disability are fairly mild or moderate, and with effective care can be effectively treated. Challenges and complications include lifelong learning or intellectual disabilities (impaired cognitive abilities), physical growth delays and medical abnormalities, such as gastrointestinal conditions and heart problems.
Early medical interventions have been proven to assist with giving a person with down syndrome a greater quality of life well past middle age. Screening and tests can effectively detect down syndrome both during pregnancy, as well as once a child is born.
Do you know how ‘down syndrome’ was named? The condition was first described as a disorder or syndrome by English physician Dr John Langdon Down in 1866. He described the condition according to its features (i.e. a collection of signs and symptoms usually found in combination). He did not, however, have a clear understanding of a cause. This was later discovered in 1959 by French physician, Dr Jérôme Lejeune, who determined the presence of the additional chromosome. In 2000, an international team of scientific experts determined and catalogued all 329 genes of chromosome 21 which allowed more extensive research to be done on this condition, further advancing treatment options.
What are the different types of down syndrome?
With the advancements in understanding the fundamental cause of this genetic condition, medical professionals determined three types of down syndrome based on the behaviour of chromosome 21 as fertilisation takes place.
The three types are:
- Trisomy 21: This type is the most common of all down syndrome occurrences (90% to 95%) and is also known as non-disjunction. Although genetic, this condition is not a hereditary disorder (meaning not all children born to the same set of parents will have down syndrome). This type of down syndrome occurs when the two chromosomes 21 that originate from the mother fail to divide (or separate) and instead incorporate into either the mother’s egg or the father’s sperm (hence why this type is also known as non-disjunction). The fertilised egg then forms with 47 chromosomes that alter the formation of a foetus when the cells begin to divide and the additional chromosome replicates in every cell of the body.
- Mosaicism: This type (also not considered hereditary) is rarer than trisomy 21 (approximately 1% of cases) and occurs when the additional chromosome replicates in some cells of the body. The remainder of cells where replication has not occurred are normal. This means that those with this type of down syndrome have few characteristics and symptoms or partial features of the condition. This type is also caused by non-disjunction shortly after embryo fertilisation and effectively forms a ‘mosaic’ pattern of normal and abnormal cells (some cells containing 47 chromosomes and others containing 46).
- Robertsonian translocation: When a part of chromosome 21 fuses with another chromosome (most often chromosome 14), this type of down syndrome occurs. A foetus will develop a normal set of chromosomes, but has one with an extra set of genes (partial chromosomal material) from the chromosome 21 copy attached to it. Occurring in a very small percentage of cases (around 4%) as well, the partial fusing or segmental trisomy 21 can be inherited by a future child if a person with this type of down syndrome reproduces.
Is it known why down syndrome happens?
Medical experts have determined how down syndrome occurs, as well as cell behavioural differences during fertilisation that result in the various down syndrome characteristics, but why additional chromosome copies occur is largely still a mystery. Although all of chromosome 21 genes have been identified and catalogued, the nature of their function is not entirely clear.
No matter the type, characteristics are fairly similar, with mosaic types having fewer physical effects. The common denominator is that all individuals with down syndrome have a critical portion of chromosome 21 present in either some or all of the bodily cells.
Predicting the occurrence of down syndrome is thus complicated, but certain risk factors which have been noted as common things to watch for can make it easier to potentially detect down syndrome earlier should it occur.
Studies have also indicated that there is no definitive causal link to environmental factors or the activities of either healthy (normal) parent before or during pregnancy. There is nothing a person physically does or doesn’t do that can result in the development of down syndrome during the fertilisation process. A person cannot influence, nor prevent the occurrence of the additional chromosome copy.
An additional copy of chromosome 21 can originate from either parent, although it is more commonly traced back to the mother (about 5% of cases originate from the father’s sperm). Robertsonian translocation is the only form of the condition which can pass on any type of down syndrome to a future child. Not every child born to a parent with translocation down syndrome will inherit the condition, however.
How does down syndrome affect the body?
Recognising the signs
- Infants: A baby will likely reach normal milestones such as rolling over, sitting, standing, talking and walking, but at a much slower pace that would be expected.
- Children: Developmental disabilities can lead to problems with overall behaviour. If severe, serious problems with communication and understanding the expectations of others can result in oppositional defiant disorder (defiant or disobedient behaviour towards authority figures, often displaying persistent patterns of irritability, anger, vindictiveness or arguing).
- Adolescence: Puberty (onset of teenage years) typically begins around the same time as for others (slightly delayed for males), but can be a particularly challenging time for an individual with down syndrome. Social difficulties and vulnerabilities result in strong emotions and feelings. The danger is allowing these highly sensitive factors to develop into mental health problems, such as depression.
- Adulthood: Female individuals can usually reproduce, but are likely to experience early menopause (around the age of 40). It is common for males with down syndrome to be unable to father children (as they are often sterile).
The general physical characteristics of down syndrome include:
- A flattened nose (nasal bridge) or general facial features
- Back of the head that is flattened
- Small ears (sometimes oddly shaped or set low on the head)
- Small head and overall stature
- Short limbs
- Small mouth
- Protruding (bulging) tongue (often sticks out of the mouth)
- A narrow palate (the roof of the mouth may also form a little high with a downward curve)
- Crooked teeth (delayed development of teeth which also do not form in the same order as others)
- Upward slanting eyes
- Palpebral (oblique) fissures of the eyes (upward slanting of fissures in the elliptic space between the eye lids)
- Epicanthal fold (the inner corner of the eye has a rounded fold of skin)
- Brushfield spots (white spots on the coloured portion of the eyes – the iris)
- Short neck (with excess skin and fat)
- Short, broad hands and short fingers
- A single palmar crease (a single crease that extends across the palm / centre of the hand)
- An individual flexion furrow (a crease made by folding, pressing or wrinkling, usually on the fifth finger)
- A large space between the large and second toe on the feet
- Loose joints
- Excessive flexibility
Babies with down syndrome may also show signs of decreased muscle tone (hypotonia or floppiness) shortly after birth. As a child grows abdominal muscles (belly muscles) which are low in muscle tone can protrude (stick out). A baby may be born at a normal size, but does not typically grow and develop at an expected healthy pace. Babies experience delayed growth, often not reaching the average expected height or achieving developmental milestones at the rate normal infants and children would.
Normal cognitive development is also a distinctive characteristic of down syndrome. A person with the condition will experience difficulties in learning (cognitive function), thinking, reasoning and understanding for their entire lifetime. Intellectual disability is quite variable but is usually mild or moderate and can be appropriately managed.
Scientists do not yet have a clear understanding as to which of the several hundred genes in chromosome 21 directly impact cognitive ability. The cause of this dysfunction is thus largely unknown, but it has been determined that the average brain volume is smaller than that of an unaffected person. The hippocampus and cerebellum (brain structures) do not function effectively. Normally, memory function (short and long-term) and learning ability is made possible in the hippocampus structure of the brain.
Speech delays and slow development of fine motor skills are also key characteristics. Skills such as sitting, standing and walking take longer to develop. It may be a little difficult to understand the speech of a person with down syndrome as well. Speech therapy can help with expressive language and overall communication.
Children are capable of being taught how to learn and lead fairly individual lives but need appropriate help whilst growing up, often requiring additional assistance through the schooling years.
Individuals with down syndrome typically learn continuously, slowly picking up new skills throughout their lives. This applies physically and mentally, as well as when it comes to developing social skills. A gradual decline in thinking ability may occur as an individual reaches the age of 50. This places a person at risk of disorders whereby a gradual loss of memory and judgment occur at a far earlier age than a normally developed person.
Delays in both mental and social development can also result in:
- Poor judgement skills
- A short attention span
- Difficulties with social interaction (as a result of communication problems)
- Impulsive, or obsessive / compulsive behaviour
- Behavioural issues such as stubbornness and tantrums
Associated medical conditions
- Congenital heart defects: Almost half of all babies born with down syndrome have a heart defect. The most common of which is an atrioventricular septal defect (the formation of holes between the left and right chambers of the heart and malformation of the valves that control blood flow between the heart’s chambers). Other congenital heart defects common among new-borns with down syndrome include atrial septal defect (a hole in the wall of the upper heart chambers), ventricular septal defect (an abnormal connection between the heart’s lower chambers), patent ductus arteriosus (the opening between two blood vessels leading from the heart fails to close following birth) and tetralogy of Fallot (a combination of 4 heart defects that result in oxygen-poor blood flow from the heart to the rest of the body). Surgery may be required for new-borns shortly after birth.
- Gastrointestinal or digestive abnormalities: The most common impairments and abnormalities that occur (some of which are congenital) include tracheoesophageal fistula (an abnormal connection or fistula between the oesophagus and the trachea), oesophageal atresia (the lower ends of the oesophagus do not connect with the stomach), Hirschsprung's disease (disease of the colon causing severe constipation and difficulty passing stool), duodenal atresia (abnormal development of the small bowel or duodenum) or stenosis (narrowing of the duodenum) and an imperforate anus (the opening of the anus is either blocked or missing since birth). Later in life, some individuals can also develop coeliac disease. Congenital defects may require surgery during infancy to be corrected.
- Cancer and tumours: Cancers of blood-forming cells can occur, such as leukaemia - Myeloid leukaemia and lymphoblastic leukaemia, as well as testicular cancer.
Other medical conditions which can occur include:
- Otitis media and other ear infections
- Hearing loss
- Infantile spasms
- Delayed tooth growth (resulting in chewing difficulties)
- Visual abnormalities, changes and impairments such as poor vision and cataracts
- Sleep apnoea
- Hypothyroidism (underactive thyroid)
- Dental problems
- Constipation problems (chronic)
- Gastroesophageal reflux
- Cervical spine instability
- Hip dislocations
- Obesity (or being overweight)
- Frequent susceptibility to infections (respiratory infections, urinary tract infections and infections of the skin)
- Early-onset Alzheimer’s disease
- Behavioural and co-existing psychiatric disorders such as ADHD (attention deficit hyperactivity disorder), autism spectrum disorders, OCD (obsessive compulsive disorder), stereotypical movement disorders and depression.
Many children with down syndrome may not begin their lives with congenital defects and lead relatively healthy lives (with occasional infections or other mild, but treatable problems). For others, overall health problems are more severe or more frequent. Usually those born with congenital defects have the most frequent health problems as they grow.
Although it is known what causes down syndrome as a condition, why an error in chromosomal development occurs is not. Thus, the condition is not one which can be prevented or corrected (cured).
Through research, medical professionals have noted similarities which determine risk factors or the likelihood of having a baby with down syndrome. These include:
- Advanced maternal age (a woman over the age of 35)
- Advanced paternal age (a man over the age of 40)
- A previous pregnancy with a down syndrome foetus (carried full term or miscarried).
- Individuals who carry genetic translocation (the Robertsonian translocation type)
- Individuals with a family history of down syndrome
Statistically, risk is higher with any of the aforementioned factors, but does not necessarily mean all babies born to, for instance, older parents, will be down syndrome. Younger women (under 30) who have more children can also have a baby with down syndrome. Risk factors are based on similarities noted from large populations over a number of years.
If risk factors are of concern, doctors may suggest consulting with a geneticist or seeing a genetic counsellor. This can help potential parents better understand the nature of potential risk, as well as assess the results of genetic testing (should potential parents opt for this).
Screening and diagnosis
What is the pre-natal screening process for down syndrome detection?
Prenatal care now screens for down syndrome, among other genetic conditions, as part of the normal routine, regardless of a woman’s age. It is standard practice, particularly if a woman is over the age of 35, a father is over 40 or a doctor is aware of a family history of down syndrome.
Before performing any tests, a doctor will have a detailed discussion with an expecting woman about the various advantages and disadvantages of performing the tests. This is to ensure that a pregnant woman is well aware of all risks and can make the most informed decisions regarding the health of her pregnancy and growing baby.
How does screening take place?
- First trimester: Once a pregnancy has been confirmed, a blood test and ultrasound evaluation will be performed. The blood sample will be evaluated for the pregnancy hormone, hCG (human chorionic gonadotropin and the pregnancy-associated plasma protein-A (or PAPP-A) levels will be measured. Abnormal levels detected in the evaluation process indicate a problem with the baby. An ultrasound evaluation (or nuchal translucency test) checks and measures a specific area on the back of a baby’s developed neck. If there is more fluid than is normal, a doctor will be able to easily pick up an accumulation of this neck tissue during the scan, thus flagging a developmental problem with the baby.
- Second trimester: Towards the middle stages of pregnancy, a doctor will recommend further screening via an ultrasound scan and a QMS (quadruple marker screen). This is to assess possibly defects in the brain and spinal cord of the foetus (which will have already formed) by looking at the blood level of four primary pregnancy-associated substances. These are hCG, estriol, alpha fetoprotein and inhibin A. The tests can help to identify possible down syndrome as well, and are usually done between 15 and 20 weeks of pregnancy. Abnormal results of these tests place a foetus at higher risk for birth defects.
Diagnostic tests during pregnancy
Results for any of these screening tests merely show abnormalities (or the lack of these) and an increased likelihood for birth defects and genetic disorders such as down syndrome. None can offer conclusive diagnostic criteria for down syndrome. This can only be achieved with diagnostic tests either during pregnancy or at birth.
Diagnostic tests will be highly recommended if found to be necessary (i.e. if the risk is perceived to be high). A low risk of down syndrome, does not necessarily mean that a baby will not be born with down syndrome either. The decision to go ahead with a diagnostic test is purely up to the expectant mother / parents.
Diagnostic tests do carry some risk, the most concerning one being the possibility of miscarriage. The reason for this is that these tests are somewhat invasive. For some women / parents, this is enough to not go ahead with diagnostic tests and rather opt to prepare for a baby with possible birth defects through counselling (most often genetic counselling).
Diagnostic tests during pregnancy are:
- First trimester: Around the 10 to 13-week mark, if a doctor feels it necessary, he or she may recommend a CVS (chorionic villus sampling) test. This involves extracting cells from the placenta for analysis through inserting a needle into the abdominal wall or inserting a long, fine instrument through the cervix (with a local anaesthetic and the use of an ultrasound to guide it). The primary aim is to examine foetal chromosomes from the extracted sample. Risk for miscarriage is minimally increased (up to 1%) when having this test.
- Second trimester: It can be difficult to detect down syndrome earlier in a pregnancy, but if any abnormalities are picked up in screening, a doctor may recommend an amniocentesis (a small sample of amniotic fluid which contains foetal tissues is extracted for testing with a fine needle through the abdominal wall, into the uterus with the use of an ultrasound as a guide) around the 15th week of pregnancy. Another test which is commonly performed around 18 weeks, is PUBS (percutaneous umbilical blood sampling) which involves a sample of blood from the umbilical cord for chromosomal defect examination. This test only becomes necessary when all others have not shown conclusive results. A doctor will carefully assess the need for this test as it can increase a woman’s risk of miscarriage.
The diagnostic process after birth
Tests once a baby is born can help to determine a diagnosis of down syndrome. Once a baby is born a doctor will do the following in order to make a diagnosis:
- Physical examination of the baby: Physical characteristics of the baby will be checked for, although they are likely to be subtler in a new-born. A baby with trisomy 21 will be easier to assess than the other types of down syndrome.
- Karyotype test (blood test): A blood sample will also be taken for chromosomal analysis. It is through this test that the additional chromosome 21 can be detected in either some or all of the body’s cells. This test will not only confirm down syndrome, but also the type. The test can take a little time, however, to return accurate results. New moms / parents can wait between 1 and 3 weeks before an actual diagnosis for down syndrome is officially made.
Treatment and condition management
Care starts at birth
During the physical examination, a baby will also be assessed for any obvious signs of potential problems. A baby with down syndrome will be tested for medical problems, particularly with the heart, thyroid and eyes.
Problems or defects detected and diagnosed early are usually better managed, ensuring that the early days of life are more comfortable and a child can develop at a healthy rate.
Once diagnosed and all relevant checks and tests have been conducted, a doctor will put together a comprehensive treatment plan to ensure that a child remains as healthy as possible as he or she grows. Different stages will require different phases of treatment and services. The plan will focus on the stages of a child’s life, from babyhood, through childhood and also note important things which can be prepared for ahead of adulthood.
Treatment throughout the course of anindividual’s life will involve regular medical check-ups, physical therapy, speech therapy, occupational therapy, nutritional needs and counselling. Regular medical check-ups are important for identifying, managing and monitoring a down syndrome individual’s overall health condition. Regular check-ups are important from the time of birth, and throughout a person’s life. During the first year, eye problems in particular are common and will be carefully assessed during check-ups. Many with down syndrome have a higher chance of developing certain health problems and serious medical conditions. Early detection is best for optimum treatment.
Physical treatment will also involve:
- Medications – these can include antibiotics for the treatment of infections and thyroid hormones to treat an underactive thyroid gland, and supplements, amongst others relating to an individual’s personal health.
- Surgery – If a baby is born with congenital defects, surgery may be highly recommended to correct defects of the heart or spine, as well as obstructions and problems with the bowel.
During early stages, speech therapy and physical therapy are critical and can help to ensure that a baby / child develops sufficiently enough to better enhance their quality of life during adulthood. It will take time and patience from everyone involved, but a child will learn to master a variety of skills.
Encouragement can go a long way, and chances are parents will find themselves surprised by just how much a down syndrome baby or child can accomplish. He or she may be slower at learning how to talk, walk or even eat by themselves, but they can and will do so over time. The important thing to keep in mind is that a child with down syndrome is not incapable of developing. They will develop the generally accepted age-appropriate milestones in their own time with appropriate help and encouragement.
Occupational therapy may prove beneficial from as early as the teenage years and as a young adult. Here, learning how to live self-sufficiently, as well as develop essential skills, such as those needed to be able to get and maintain earning potential (a job), can dramatically improve a person’s quality of life further. During teenage years and early adulthood, in particular, sensitive emotions and issues can benefit greatly from counselling sessions while going through specific transitional phases of growing up. Emotional problems and assistance with social skills can be well managed and better understood through therapy.
When to seek medical intervention
- Infancy: Symptoms such as stomach pain or swelling of the abdomen and vomiting could indicate intestinal blockage. A bluish discolouration of the fingers and lips, problems with breathing and sudden changes in activity level or feeding could indicate problems with the heart and its function.
- Any age: Symptoms of neck pain or limited movement, bone injury or dislocations, difficulties with walking, weakness in the limbs or changes in bladder and bowel control need to be assessed by a medical doctor as soon as possible. Parents should also seek medical assistance if an individual with down syndrome discontinues doing things that he or she used to enjoy doing, and exhibits other behavioural changes triggered by stress, or if significant changes in the home and family such as the loss of a loved one occur. Behavioural changes could indicate signs of possible mental health conditions such as anxiety of depression.
Which medical professionals are best to consult with?
- Paediatricians (paediatric cardiologist, paediatric gastroenterologist, developmental paediatrician, paediatric endocrinologist, paediatric neurologist etc.) during the formative years
- Primary health care providers such as family physicians (general practitioners / GPs and physician assistants)
- Ear, nose and throat specialist (ENT)
- An Ophthalmologist (eye specialist)
- Nurse practitioners
- Speech-language pathologists
- Physical therapists
- Occupational therapists
- Special education teachers
Other specialists, such as for the heart or brain or emotional well-being, may be required as and when necessary depending on the nature of a child’s condition. When in doubt, seek assistance from a family physician, who can refer an individual with down syndrome to an appropriate specialist for treatment or assistance.
How to cope as a parent
It will be an emotional journey from the time any screening abnormalities are detected to giving birth to a child with down syndrome, and right through their lifetime. Having a special needs child can feel overwhelming, with a wide range of happy, apprehensive and negative emotions, such as sadness or even anger in the mix. It may feel like there are a lot of dark corners, making it difficult to know what to do and what not to do.
For some, bonding with a baby, the potential financial burden or raising a child with special needs is overwhelming. Some choose to place their child in foster care or give a baby up for adoption. Others choose to raise their child as best they can. The decision that is best is one that is best for both the child and parent/s.
Raising a child with down syndrome requires a constant focus on their general health. This can take an emotional toll on a family, but the more parents learn about their child’s condition, the fewer dark corners there will be and the easier a sense of normal and healthy living can be achieved. With sufficient treatment and adequate support, both a child with down syndrome and their family can lead healthy, happy lives.
The effort a parent puts in to better understand their child’s condition, the greater the chances of their success:
- Learn about what down syndrome is and why it happens: For the most part, producing a child with down syndrome is not anyone’s fault. Genetic material merely develops in a way that is beyond anyone’s control. A parent should never feel that something they did or didn’t do caused this genetic condition or blame the other parent for this. It is easy to feel helpless when a condition, such as down syndrome, cannot be rectified or changed. Gaining a better understanding of the disorder, knowing what typical things can be expected and how to best help an individual through likely challenges throughout their lifetime can go a long way in making things easier and happier. It is normal to worry about what to expect to have to learn to cope with at every stage – coping with a new-born (with or without physical defects), changes as an infant grows and how to prevent illnesses and infections, changes and challenges through childhood and adolescence, and beyond into adulthood. It’s a lot to wrap the mind around and feel confident that you can prepare for. The more parents learn and walk through the stages along with their child and their care team, the smoother the process will be and the easier it’ll be to find ways to cope.
- Seek out and plan for financial support: If a child has many defects or health problems, this can take a toll financially. Many birth defects can be corrected through surgery which can become costly. Where parents can, seek out medical health insurance which will help to cover some of the necessary health costs. It may be necessary for considerably more medical check-ups for a child with down syndrome than others. It is best to prepare for certain medical eventualities through savings or medical health insurance as far as possible. The amount of medical attention or therapy a child will need depends greatly on their individual medical condition and the level of disability. At some stage (and where possible), it may be a good idea to look at estate planning as well, ensuring a child has sufficient resources available should anything happen to the adult they depend on.
- Look into appropriate schooling: Many children can attend public or private schools (mainstream with integrated classrooms), while others may fare better in a special needs schooling environment. Schooling is essential for developing a child’s intellectual ability and also provides valuable socialisation and life skills. For an adult to be self-sufficient, learning in a school environment as a child can be life-changing as they grow. Making the best choice can be difficult. Counsellors and therapists can help to guide parents on available options in the area they reside so that the best facility can be selected.
- Take measures to cope as a parent: It can become all-consuming to invest every ounce of energy into caring for a special needs baby or child. Parents are human too and will go through a lot themselves. Where help is needed, seek out support. Highs and lows will be normal, but can leave anyone feeling exhausted. Talking to other parents and families dealing with raising a down syndrome child, or joining a support group can help. If it helps, family counselling is also a beneficial option where councillors can work with families as whole, and not with affected individuals separately. As the primary caregiver, parents can only really best care for and enjoy their special needs child, if they themselves have the energy to do so.
Living with down syndrome
Home care is just as important as ensuring that a child has adequate medical care and therapy. Parents have a crucial role in helping a child develop, face and overcome challenges and ultimately reach his / her potential.
It’s important to understand how a child with down syndrome will face each life stage in order to help them through reaching milestones and achievements.
Early stages: babyhood / childhood (young)
- To help a child with motor development milestones, such as walking, play can be a very useful (and fun) way to strengthen muscles. A physical therapist can also help to develop an exercise programme as a child grows. It’s just as important to maintain and increase muscle strength in order to better develop physical skills.
- A child will learn to eat independently through gradual steps. At first, a child can use his or her fingers to learn to self-feed, before moving on to utensils. Sitting together as a family helps a child to observe and learn as well.
- Learning to dress will take a little time and practice, but can be achieved. Explaining the process in steps can help to develop a familiar routine which helps a child to learn to dress himself or herself.
- A daily routine for grooming and hygiene can also help a child learn the importance of cleanliness. Start with the essential basics, such as bathing and teeth cleaning and then introduce other tasks one by one, such as applying deodorant and face creams.
- For a child to learn to communicate effectively throughout their lives, learning should start at a very young age. A child will learn to communicate by mimicking the parents, to some degree. Looking directly at a child, naming objects and incorporating actions which show a child in addition to speaking are simple but effective ways of helping a child with down syndrome to learn to communicate for themselves, as well as understand others. These simple steps will also help to enhance a child’s thinking skills and stimulate a continuous pattern of learning and developing.
- These types of learning habits will also help develop a child’s social skills effectively and encourage physical activity. No child with down syndrome should be isolated from others. Working with teaching staff, it is possible to enrol a child in school with other children of a similar age and keep a child stimulated while encouraging learning.
School-going age (childhood)
- Parents should take an active interest in their child’s education, ensuring that they are consistently learning at a comfortable pace, in a regularly attended classroom environment. Depending on which school a child is enrolled in, parents can work closely with teachers to make the most of an existing curriculum for children with special learning needs or an adapted programme for a child with down syndrome.
- Parents should also make an effort to be active with the child, encouraging sport participation or other things that a child particularly enjoys, such as walking the dog, tending a garden or other recreation or leisure programmes. Try introducing different activities to a child and see what he or she takes a fancy to most, before encouraging a routine. A routine is important for a child. An inactive lifestyle can contribute to further physical hindrances, such as bone loss, poor blood circulation, reduced fitness levels and even poor self-esteem. Down syndrome children tend to fare better with a regular routine. This helps maintain strong muscles, build endurance, improve self-esteem and promote better overall health. It also helps a child learn independence skills which will enhance their adult life too. Once a routine is established, parents can set short-term goals for a child, encouraging a sense of achievement and stimulating positive learning and growing, as well as fine-tuning skills by increasing levels of difficulty.
Teenage years (adolescence)
- Once a child reaches puberty, he or she will need to begin learning appropriate behaviour and social skills. Teenagers with down syndrome will likely have the same needs as anyone else their age. In order to have and maintain healthy relationships, parents will need to be well aware of how to guide their child so that they learn the necessary skills that will achieve a healthy self-esteem and encourage peer acceptance.
- Parents will need to be aware of helping a teenager learn new grooming and hygiene habits, such as shaving or cleaning off make-up (once learned how to apply). Social skills may need to be adapted and a teenager encouraged to participate in both community and school activities. This encourages healthy friendships and the formation of new ones, and enhances a sense of belonging. Encouragement of these activities won’t be without challenges and social difficulties. Teenage years are a vulnerable and tricky time for anyone. It’s important to help a teen going through this transitional phase understand how to go about having healthy adult relationships, including those that may become intimate. Teaching respect for his or her own changing body, as well as those of others, encouraging open communication, honest education, and if necessary discussing safe birth control methods can help to promote better behaviour in a growing teen.
- Parents will also need to start thinking about the quality of life their child can have during their adult years, especially when it comes to earning a living and potentially living alone. Group homes and apartments with support services can work well for healthy, independent living. Parents can enrol their teenager in vocational training programmes to begin learning skills which will help him or her to secure a job once graduated from school. Other options include finding community employment on a part-time basis, or enrolling a teen in a workshop for an afternoon or day programme that can help to open the door for opportunities.
- Parents should encourage independence wherever they can during the teenage years. Learning basic things such as doing some light cooking, cleaning up after using a kitchen or bathroom, packing their own lunch and managing to dress completely independently can really help an individual prepare for adulthood.
An adult that has been well supported during the stages of childhood can lead an active, independent and healthy life. Many down syndrome adults are able to function well in society, lead an active lifestyle (with continued learning), earn a decent income at a regular job, as well as have healthy relationships (friendships and romantic).
Having a family that continuously encourages an adult with down syndrome will help to ensure that he or she always has a sense of purpose and belonging. Whether interests be sporty or artistic, having continuous support and encouragement can really enhance a down syndrome individual’s quality of life as an independent adult.
It’s also important that an adult with down syndrome learns to maintain necessary medical care, and regularly attends check-ups or treatment facilities, and takes the required medications correctly. It will also work in an individual’s favour to learn how to care for their own health, and guard themselves from common infections such as colds and flu, bronchitis and pneumonia, in just the ways parents and medical teams taught them during childhood.
What is the outlook for down syndrome?
Survival rates and quality of life have significantly improved in recent years. Many children didn’t make their 10th birthdays until the early 1960s. In 2007, the average individual with down syndrome lived to around the age of 47. Now the average life expectancy age is around 60.
Those who were born with congenital defects or who have developed a variety of associated health problems are at higher risk for health problems and the need for medical intervention. In general, if an individual’s overall health is well monitored and their overall condition optimally maintained, he or she can live a long and richly satisfying life.
What are some of the biggest misconceptions about down syndrome?
- Down syndrome is a rare condition: As a chromosomal condition, down syndrome is more commonly seen. Estimated cases stand at between 1 in 1 000 and 1 in 1 100 live births across the world. Each year between 3 000 and 5 000 infants are born with down syndrome, worldwide. Of these 80% will have hearing problems and up to 45% will be born with congenital heart problems. Translocation as a type of down syndrome, is rare, however and accounts for between 3% and 4% of all cases.
- Most children with down syndrome are born to older parents: Younger women who have had many children (under the age of 35) have higher statistical numbers (up to 75%) of children with down syndrome, than do older men and women. Older women and men are however, at increased risk of having a baby with down syndrome (and the risk continues to increase with age) than younger individuals.
- Adults with down syndrome are the same as children with the condition: No adult with down syndrome should be considered ‘a child’. An individual with down syndrome is not incapable of developing physically, mentally or emotionally. The difference, to a large extent, is in pace. Children and adults with down syndrome have the same range of emotion (full range of feelings), responding to positive expression and inconsiderate behaviours, and can enjoy everything their peers are capable of (with or without a disability).
- All individuals with down syndrome have severe cognitive disability and are always sick: Intellectual disability is not always severe in most individuals with down syndrome. Cognitive disability merely means that learning capacity is impaired and more time and patience is required to learn, understand and remember. It does not serve as an indicator for how many strengths and talents an individual may lack in comparison to others. It can take some time for an individual with down syndrome to say and do things, but their disability does not render them incapable. Illness may be frequent for those with down syndrome as individuals are at increased risk for certain medical problems. Medical advancements have made it far easier for proper health care and treatment to prevent serious concerns and conditions. Nowadays, it is far easier to monitor and maintain optimal health for an individual with down syndrome.
- Separate special education is best for a child with down syndrome: In many cases, a child with down syndrome fares better with a combination of mainstream schooling (typical academic classroom / learning environments) and additional special needs classes. A child may be able to keep up with some mainstream classroom subjects, but require specific additional teaching methods for help with others. Full inclusion in both educational and social settings has been proven to benefit a down syndrome child. Many are fully capable of attaining high school graduation certificates, as well as from post-secondary / tertiary academic institutions (university and college).
- Individuals with down syndrome cannot be self-sufficient or active members of society: This may only prove true if individuals were neglected in childhood and not sufficiently cared for and encouraged through the stages of growing up. If surrounded by appropriate care and encouraged to live independently, individuals with down syndrome can lead fully functional lives and be active participants in recreational, educational and social activities. Individuals can achieve in just the same manner as their peers through a typical education system and participate in social engaging activities. There is no reason an individual with down syndrome cannot live a meaningful existence and contribute to society.
- Adults with down syndrome are not employable: Down syndrome individuals can effectively hold jobs in a variety of different industries, such as finance, corporations, hospitality, nursing homes and hospitals, entertainment, childcare, sports, computers, restaurants and more. Whatever peak’s an individual’s interest, a person with down syndrome can successfully apply themselves and gain the same amount of satisfaction from doing their jobs well.
- An adult with down syndrome can never marry: Like any other person, an individual with down syndrome is fully capable of having close friendships, companions and interpersonal relationships, including one that leads to marriage.
What about having children?
Puberty for females tends to happen at around the same age. At least half of all females with down syndrome experience normal menstruation, making them fertile and able to have a baby. Mother’s with down syndrome are at risk of having a baby with trisomy 21 or some other developmental disability. The risk is between 35% and 50%.
Male fertility, is however, a little more limited, but it is not entirely clear to medical experts as yet, as to whether a child fathered by a man with down syndrome is more likely to have a similar condition. Men with the condition do have a considerably lower fertility rate, however, than those of unaffected individuals of comparable ages and as such, may have difficulty fathering a child.