Down Syndrome is a genetic condition that arises when a person has an extra copy of chromosome 21. This additional genetic material impacts development, resulting in unique physical characteristics and varying levels of intellectual disability. For parents of children with Down Syndrome, understanding this condition is so important for providing the best care and support for your child.
Children with Down Syndrome bring immense joy and love to their families. In Australia, inclusive education and support systems ensure they thrive and reach their full potential. With the right encouragement and opportunities, these children can lead fulfilling lives, contributing positively to their communities and inspiring everyone around them.
Let us further your learning on how to live with Down Syndrome within your family. Our aim is to offer comprehensive information to help you as parents or guardians navigate the journey of raising a child with Down Syndrome.
We want to ensure you and your family feel supported and empowered every step of the way.
The Different Types of Down Syndrome
In Australia, there are three main types of Down Syndrome. Understanding the different types is essential for parents and caregivers to provide the best support for their child.
While all forms of Down Syndrome result in similar physical and developmental characteristics, the underlying genetic mechanisms differ and each type requires specific medical and developmental support.
1. Trisomy 21
Trisomy 21 is the most common type of Down Syndrome, accounting for about 95% of all cases. It occurs due to a random error in cell division known as nondisjunction, which happens during the formation of the egg or sperm. As a result, an individual with Trisomy 21 has three copies of chromosome 21 in all their cells instead of the usual two.
The presence of this extra chromosome affects every cell in the body, leading to the characteristic features of Down Syndrome, such as distinct facial features, intellectual disability, and developmental delays. While the severity of these symptoms can vary, individuals with Trisomy 21 often require ongoing medical care, educational support, and therapeutic interventions to help them reach their full potential.
Early intervention programs are invaluable for children with Trisomy 21, as they can significantly improve developmental outcomes. These programs may include Physical Therapy, Speech Pathology, and Occupational Therapy, which help children develop essential skills and improve their quality of life.
With the right support and resources, individuals with Trisomy 21 can lead fulfilling and productive lives.
2. Translocation Down Syndrome
Translocation Down Syndrome is a less common form, accounting for about 3-4% of all cases. Unlike Trisomy 21, which involves an extra chromosome in all cells, Translocation Down Syndrome occurs when a part of chromosome 21 attaches (translocates) to another chromosome, often chromosome 14.
This results in an individual having the usual 46 chromosomes, but with an additional part of chromosome 21 attached to another chromosome.
This type of Down Syndrome can be inherited from a parent who carries a balanced translocation, where the parent has a rearrangement of genetic material but no extra genetic material themselves, thus appearing normal. Genetic testing can identify if a parent is a carrier, which is recommended for family planning and understanding the risk of Down Syndrome in future pregnancies.
The symptoms of Translocation Down Syndrome are similar to those of Trisomy 21, including intellectual disability and characteristic physical features. However, the genetic mechanism behind the condition is different, which can have implications for genetic counselling and the recurrence risk in families.
Families with a child diagnosed with Translocation Down Syndrome should consider genetic counselling to understand the condition better and to receive guidance on managing their child’s health and development.
3. Mosaic Down Syndrome
Mosaic Down Syndrome is the rarest form, occurring in about 1-2% of all cases. This type is characterised by a mixture of two types of cells: some with the usual 46 chromosomes and others with 47 chromosomes, including an extra chromosome 21. The term “mosaic” refers to the presence of two different cell lines within the same individual.
The mosaic pattern occurs due to an error in cell division after fertilisation, leading to some cells having an extra chromosome 21 while others do not. The proportion of affected cells can vary widely, which means that the severity of symptoms can also vary significantly.
Some individuals with Mosaic Down Syndrome may have fewer features of the condition and milder intellectual disabilities compared to those with Trisomy 21 or Translocation Down Syndrome.
Because the symptoms can be less pronounced, Mosaic Down Syndrome might be diagnosed later than other forms. It is essential for children with Mosaic Down Syndrome to undergo thorough medical evaluations and early intervention to address any developmental delays and health concerns.
With appropriate support, many individuals with Mosaic Down Syndrome can achieve high levels of functioning and lead productive lives.
What Causes Down Syndrome
Down Syndrome is caused by an error in cell division that results in an extra chromosome 21. The exact cause of this error is unknown, but it is known that the likelihood of having a child with Down Syndrome increases with maternal age.
However, Down Syndrome can occur in children of mothers of all ages.
Recognising Symptoms and Early Indicators of Down Syndrome
Early indicators of Down Syndrome include specific physical traits such as a flat facial profile, a protruding tongue, and almond-shaped eyes that slant upwards. Newborns with Down Syndrome may have poor muscle tone (hypotonia), which can affect their ability to feed and grow.
Developmental delays are also common, and parents might notice that their child reaches milestones like sitting, crawling, and walking later than other children.
Diagnostic Criteria of Down Syndrome and How to Get a Diagnosis
Getting a diagnosis of Down Syndrome can be an essential step in preparing for the medical, educational, and social support needed for a child. Diagnostic criteria include specific physical characteristics and genetic tests that confirm the presence of an extra chromosome 21. For more information on the diagnostic criteria visit the Royal Children’s Hospital.
Getting a Down Syndrome diagnosis, whether prenatally or postnatally, is one of the best ways of ensuring the best care and support for the child. Healthcare professionals can provide valuable support, information, and resources to help parents navigate the early days and understand the care their child will need. Visit for more information visit Down Syndrome Australia.
Connecting with other parents of children with Down Syndrome and accessing support groups can also be immensely beneficial during this time. Regardless of which path you take, it is important to know that early diagnosis enables parents to access necessary resources and plan for their child’s future effectively.
Prenatal Diagnosis of Down Syndrome
Prenatal diagnosis of Down Syndrome involves screening tests and diagnostic tests to determine the likelihood or presence of the condition before the baby is born. Screening tests, such as the Combined First-Trimester Screening (CFTS) and Non-Invasive Prenatal Testing (NIPT), are typically offered to pregnant women to assess the risk of Down Syndrome.
The CFTS combines a blood test and an ultrasound to measure the nuchal translucency (fluid at the back of the baby’s neck), providing an estimated risk. NIPT, on the other hand, analyses cell-free foetal DNA in the mother’s blood, offering a high accuracy rate of detecting Down Syndrome.
While screening tests indicate the risk level, they are not definitive. For a conclusive diagnosis, diagnostic tests such as Chorionic Villus Sampling (CVS) and Amniocentesis are performed. CVS involves taking a small sample of the placenta to examine foetal chromosomes, usually done between 10 and 13 weeks of pregnancy.
Amniocentesis, performed between 15 and 20 weeks, involves extracting a sample of amniotic fluid to analyse the foetal chromosomes.
Both tests carry a small risk of miscarriage but provide a definitive diagnosis. From our knowledge, NIPT is highly reliable [about 99%] and comes with far less risk but seek professional advice and consult your medical professional when choosing which test you take.
Prenatal diagnosis allows parents to prepare emotionally and practically for the arrival of a child with Down Syndrome. It provides an opportunity to seek early intervention services, connect with support groups, and make informed decisions about the pregnancy.
Postnatal Diagnosis of Down Syndrome
Postnatal diagnosis of Down Syndrome occurs after the baby is born. If a newborn exhibits physical characteristics associated with Down Syndrome, such as a flat facial profile, upward slanting eyes, a single deep crease across the palm, and hypotonia (poor muscle tone), a paediatrician may suspect Down Syndrome.
To confirm the diagnosis, a chromosomal karyotype test is performed, which involves taking a blood sample from the baby to analyse the chromosomes. This test identifies the presence of an extra chromosome 21, confirming the diagnosis of Down Syndrome.
Postnatal diagnosis also includes assessing the baby’s overall health and identifying any associated medical conditions, such as congenital heart defects, hearing problems, or gastrointestinal issues. Early medical intervention can address these conditions and ensure the baby’s health and development.
Parents receiving a postnatal diagnosis may experience a range of emotions, including shock, grief, and concern for their child’s future.
Related Health Conditions of a Child with Down Syndrome
Children with Down Syndrome are at a higher risk for certain health conditions, including congenital heart defects, respiratory and hearing problems, and thyroid conditions. They may also experience gastrointestinal issues, vision problems, and a higher susceptibility to infections. Regular medical check-ups and early intervention are needed to manage these health concerns effectively.
Early intervention and a multidisciplinary approach involving Paediatricians, Cardiologists, Audiologists, Ophthalmologists, Endocrinologists, and other specialists are encouraged in managing these related health conditions.
With appropriate medical care and support, children with Down Syndrome can lead healthy, fulfilling lives.
How to Manage Down Syndrome and Support Your Child and Family
Managing Down Syndrome involves a multidisciplinary approach that includes medical care, educational support, and therapeutic interventions. Early intervention programs can help children develop essential skills.
Occupational Therapy can improve fine motor skills and daily living activities, while Speech Pathology can address communication challenges. Social support and community resources are also a great source of assistance for the well-being of the entire family.
What Support is There for Parents of a Child Born with Down Syndrome?
Support for parents includes access to healthcare services, early intervention programs, and community organisations that provide resources and advocacy. In Australia, organisations like Down Syndrome Australia offer information, support groups, and advocacy to help families navigate the challenges and celebrate the achievements of their children.
Living With Down Syndrome
Raising a child with Down Syndrome is a journey filled with unique challenges and incredible rewards. While the diagnosis may initially bring a wave of emotions and uncertainties, it also opens the door to a world of love, resilience, and personal growth. Children with Down Syndrome can lead fulfilling, happy lives when provided with the right support and opportunities.
As a parent, fostering a supportive and nurturing environment is essential. Celebrate your child’s achievements, no matter how small, and encourage their interests and talents. Building a strong network of family, friends, and support groups can provide invaluable emotional support and practical advice. Connecting with other families on similar journeys can also offer a sense of community and shared understanding.
Remember, every child with Down Syndrome is unique, with their own personality, strengths, and potential. With patience, love, and the right resources, you can help your child navigate the world confidently and joyfully, ensuring they lead a life filled with purpose and happiness.
FAQ’s
What is the quality of life of someone born with Down Syndrome?
Individuals with Down Syndrome can lead meaningful and happy lives with the right support. Many participate in community activities, attend school, work, and form meaningful relationships.
What is the life expectancy of an individual with Down Syndrome?
Life expectancy for individuals with Down Syndrome has increased significantly over the years and now averages around 60 years, with some living into their 70s or beyond.
Can someone with Down Syndrome lead a normal life?
Yes, with appropriate support and opportunities, individuals with Down Syndrome can lead fulfilling lives, including pursuing education, employment, and personal relationships.
How can I help my child understand their Down Syndrome?
Open and age-appropriate communication is key. Use simple language to explain Down Syndrome and highlight their unique strengths and abilities. Support from professionals like psychologists can also be beneficial.
How common is Down Syndrome?
Down Syndrome occurs in approximately 1 in every 700 births, making it one of the most common genetic conditions.
Is Down Syndrome genetic?
Down Syndrome is a genetic condition caused by an extra chromosome 21, but it is not typically inherited. Most cases result from random errors in cell division. Translocation Down Syndrome can sometimes be inherited.
