What is Down Syndrome
Down Syndrome is a genetic condition caused by the presence of an extra chromosome 21. This results in a range of physical and intellectual challenges, which can manifest in delayed development, and increased susceptibility to health problems. Physical characteristics commonly associated with Down syndrome include a flattened face, small head, short neck, upper slanting eyelids, and poor muscle tone. Intellectual difficulties include cognitive impairment and delayed language and memory development.
History of Down Syndrome
John Langdon Down first described Down Syndrome in 1866, hence the eponym. Despite the lack of an in-depth historical exploration in some texts, it is known that advancements in medical knowledge and understanding over the years have enhanced the ability to diagnose and support individuals living with Down Syndrome effectively.
Down Syndrome Prevalence
John Langdon Down first described Down Syndrome in 1866, hence the eponym. Despite the lack of an in-depth historical exploration in some texts, it is known that advancements in medical knowledge and understanding over the years have enhanced the ability to diagnose and support individuals living with Down Syndrome effectively.
Characteristics of Down Syndrome
Down syndrome is a genetic condition that causes physical and intellectual challenges. It is caused by an extra copy of chromosome 21 and is known to lead to delayed development and an increased risk of various health problems.
Early Signs of Down Syndrome
- At birth, infants with Down syndrome typically have distinct physical features such as a flattened face, small head and short neck.
- These infants may also exhibit upward slanting eye lids, small ears, a protruding tongue and poor muscle tone.
- Differences in cognitive abilities can be identified early on, including potential delays in language development and problem-solving skills.
- Infants with Down syndrome may reach developmental milestones – such as sitting, crawling, and walking – later than other children.
- Most infants with Down syndrome have heart defects at birth which are the major health concern in early years.
Down Syndrome in Adolescents
- Adolescents with Down syndrome often experience a slower rate of maturation and physical development compared to their peers.
- While they continue to make strides in intellectual development, there may be ongoing challenges with memory and executive function skills.
- Puberty may be delayed or occur earlier than in adolescents without Down syndrome.
Down Syndrome Diagnoses
- A facial profile that may include features such as eyes that tilt upwards, a smaller than average size for ears, and a tongue that may protrude slightly.
- Confirmation through karyotype analysis revealing an extra chromosome 21 (trisomy 21).
- Shorter stature and delayed growth milestones compared to peers.
- Mild to moderate intellectual and developmental delays.
- Congenital heart defects, respiratory and hearing problems, and thyroid conditions.
Risk Factors for Down Syndrome
Down Syndrome is a chromosomal disorder that occurs in about 1 in every 700 births worldwide. An important risk factor is maternal age, with women aged 35 and above at a higher likelihood of having a child with Down syndrome. Additionally, parents who have previously had a child with Down syndrome or have a genetic translocation for Down syndrome within their genes are at an increased risk.
Challenges for People with Down Syndrome
People with Down Syndrome face diverse physical, intellectual, and social challenges. Physically, they may contend with a muted muscle tone and distinct facial characteristics. There may also be cognitive impairment, delayed language development, and memory issues, adding to their intellectual challenges. Socially, they may struggle to fit into mainstream society due to these developmental setbacks and the associated stigmas.
Treatments and Supports for Down Syndrome
Although Down Syndrome is not curable, interventions and supports can significantly improve quality of life. Medical treatments for health complications, specialised educational programs, speech therapy, and occupational therapy can help maximise their potential. Health and social support systems, including the NDIS, can offer services to enhance daily living, social participation and the overall wellbeing of people with Down Syndrome.
Typical NDIS Funding for Down Syndrome
NDIS funding for individuals with Down Syndrome is assessed on a case-by-case basis, focusing on the person’s individual needs and goals. Funding may be provided to support a range of services and supports such as therapies to improve physical and cognitive abilities, aides and modifications for daily living, early childhood interventions, and social participation activities. Whilst not everyone with Down Syndrome may be eligible for NDIS, those with significant impairment impacting their daily living, and who meet the other eligibility requirements, are likely to receive support under the scheme.
