Down's Syndrome | community-hub

Down syndrome, also known as Trisomy 21, is a genetic condition in which a person has an extra copy of the chromosome 21. Chromosomes are found in every cell of the body, and contain the genetic blueprint for growth and development. The addition of the extra chromosome can result in a variety of physical and developmental impairments, however some level of intellectual disability is always present.

Down syndrome causes disability, but it is not an illness. Other people cannot ‘catch’ Down syndrome.

There are 3 forms of Down syndrome:

Trisomy 21 – each cell of the body contains an extra copy of chromosome 21. It is the most common form of Down syndrome (approximately 95% of all cases). It is not a hereditary condition.
Mosaic Down syndrome – some, but not all, cells of the body contain an extra copy of chromosome 21. It may result in milder intellectual disability and less obvious physical and developmental characteristics.
Translocation Down syndrome – part of the chromosome 21 is broken off and attached onto another chromosome (“translocation”). In about one third of these cases one of the parents has the same translocation.

Down syndrome is the most common chromosome disorder. We know what causes Down syndrome, but not why. Whilst older mothers are thought to have a greater chance of having a child with Down syndrome, most people with Down syndrome were born before their mothers were 35.

What are the symptoms?

There are a variety of physical characteristics associated with Down syndrome, including:

Eyes – a slight upward slant of the eyes, a small fold of skin on the inside of the eye, or small white patches on the edge of the iris of the eye

Face – rounded, flat profile

Stature – babies with Down syndrome tend to be smaller and lighter at birth, grow slower and are commonly smaller than peers of their age.

Other common characteristics include:

Delayed development – children with Down syndrome will achieve the same developmental milestones as other children, with some degree of delay. Speech and language may be the most noticeable areas of delay.
Learning disabilities – everyone will Down syndrome will experience some degree of learning disability, however the extent and nature of their difficulties will vary between individuals.
Motor disabilities – longer reaction times, balance and posture impairments, altered mobility and walking patterns in childhood, general hypertonia (loose, “floppy” muscles), or rigidity
Ligament laxity – unsupported or “loose” joints, resulting from a disorder of connective tissue throughout the body, increasing the risk of musculoskeletal deformities.
- NB: Instability of the Atlanto-axial Joint (AAI) – ‘loose’ ligaments and ‘floppy’ muscles can cause a very specific instability of the joint at the top of the neck, connecting the head to the spine, putting the spinal cord at risk of compression.
Congenital heart disease – individuals with Down syndrome are at a greater risk of heart defects that can effect the functioning of the cardiovascular and respiratory systems.

Capabilities

Whilst Down syndrome effects the development of an individual, it does not determine their development and level of achievement. Events and influences after birth have a far greater impact on a person with Down syndrome than having an extra chromosome.

Children with Down syndrome can attend childcare, preschools, primary and secondary schools alongside other children of their age; and adults with Down syndrome can attend post-school training, participate in the workforce, and lead lives as productive and valuable as any other member of their community.

It is important to not underestimate the abilities and potential of people with Down syndrome, given their capacity for achievement when they are provided with encouragement and opportunity. Like everyone else, people with Down syndrome enjoy their lives when they are well supported.

How is it diagnosed?

Down syndrome can be recognised at birth, and is confirmed by a blood test.

Prenatal tests that can detect Down syndrome in a foetus include:

Ultrasounds
Maternal serum screening
Amniocentesis
Chorionic villi sampling

Genetic counselling is available to parents in all states of Australia, and may be helpful if parents are concerned their child has or may have Down syndrome. Parents concerned that they may have a child with Down syndrome can contact their:

Your doctor
Your local community health centre
Maternal and child heath nurse

Adolescents with Down syndrome typically do not participate in the recommended levels of physical activity, placing them at risk of developing health-related complications such as obesity, Type II diabetes, and cardiovascular disease.

People with Down syndrome can benefit from exercise and physical activity just like anyone else. A program including both aerobic or endurance exercise, as well as resistance or strength training, can have a greater impact on cardiovascular fitness than aerobic exercise alone.

Barriers to physical activity may include concerns about:

Lack of supervision and support
Safety
Social interaction
A lack of appropriate programs
Widening skills and development gaps between individuals with Down syndrome and their peers

Physiotherapy and Occupational Therapy can be useful in assessing and managing problems that may be limiting the ability of individuals with Down syndrome to participate in physical activity and exercise.

Involving parents, siblings and peers in the physical activity can facilitate the involvement of children and adults with Down syndrome.

Re: Atlanto-Axial Instability - (AAI) - currently there is not enough evidence to say whether it is safe or unsafe to participate in activities where the chance of cervical spinal injury is high.

- What this means for parents:

there is insufficient information to determine whether a particular sport (eg/ horse riding) may increase the risk of AAI for children with Down syndrome. The decision to participate in the activity should be based on balancing the risks of suffering the chance of spinal cord compression with the benefits of engaging in rewarding physical activity.

Useful links

Community supports are also available for parents whose child has been diagnosed with Down syndrome.

For help and advice parents may find it useful to contact:

Parkes & Forbes Community Hub

Down Syndrome