Category Archives: Down Syndrome

Support Groups

NSW Department of Family and Community Services – Ageing, Disability and Home Care (ADHC) funds early childhood intervention services and offers some services directly to children and families.

http://www.adhc.nsw.gov.au/

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Down Syndrome NSW provides information and research, support services as well as upcoming events for people with Down syndrome. Support services include Up! Club which is a peer support group for young adults. 02 9841 4444

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Better Start is a support program which allows children under the age of 6 who have been diagnosed with Down syndrome to register for access to early intervention funding of up to $12000. 1800 242 636

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Intervention Programs

There is no standard treatment or cure for Down syndrome with treatments based on the individual’s physical and intellectual needs as well as their capabilities and limitations. Early intervention procedures can improve lives and the future of children with Down syndrome. These programs can begin shortly after birth and continue until the age of 3. After this age, most children will continue to be involved in intervention therapies and receive assistance from their school. A variety of therapies can be used in early intervention programs and throughout a person’s life to help aid development, productivity and independence. The professionals involved in Down syndrome include intervention special educators, speech therapists, occupational therapists, physical therapists, and social workers.

There are a variety of therapies which can be used in early intervention programs and throughout a person’s life to help aid development, productivity and independence.

Physical therapy involves activities and exercises that help build motor skills, increase muscle strength, and improve posture and balance. Physical therapy is very important in early childhood as it helps them learn and interact with their surroundings, establishing a foundation for other skills. It will also help a child deal with physical challenges to help them in the future and long-term.
These include teaching the child to walk in an efficient pattern to minimise foot injury or pain and also back strengthening exercises.

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Speech-language therapy can help children with Down syndrome improve their communication skills and the ability to use language effectively since they often learn to speak later than other children. It helps the children develop early communication skills such as imitating sounds or using pictures. Learning to communicate and communication skills is a learning process in life and will not only benefit the children from an early age but also during school or later in life. The therapist will help the child with speaking skills, pronunciation, comprehension as well as reading and remembering words.

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Occupational therapy is relevant to people with Down syndrome of all ages, and helps them adjust to everyday tasks and duties, addressing their needs within their abilities. It teaches self-care skills including eating, writing or getting dressed. In high school years an occupational therapist may aid with career and job searching, relative to the person’s abilities and interests.

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Emotional and behavioral therapies aim to understand why a child may be acting out in desirable or undesirable behaviours. The therapists will help identify strategies and ways to avoid and prevent undesirable behaviours as well as teaching positive ways to respond to situation. Psychologists and counselors can help children deal with emotions, especially during puberty and teach coping and management skills. These techniques will allow the child reach their full potential in everyday life.

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Down Syndrome – Features

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Common Physical Features:

* Decreased or poor muscle tone

* Short neck, with excess skin at the back of the neck

* Flattened facial profile and nose

* Small head, ears, and mouth

* Upward slanting eyes, often with a skin fold that comes out from the upper eyelid and covers the inner corner of the eye

* White spots on the colored part of the eye

* Wide, short hands with short fingers

* A single, deep, crease across the palm of the hand

* A deep groove between the first and second toes

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Cognitive impairment, intellectual disability and problems with learning and thinking commonly affect people with Down syndrome to varying degrees. While severe cognitive impairment is rarely seen it commonly ranges from mild to moderate.

Common cognitive and behavioral problems include: 

* Short attention span

* Poor judgment

* Impulsive behavior

* Slow learning

* Delayed language and speech development

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Down Syndrome – Explained (Science)

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In each cell in our body there are typically 46 chromosomes, with the DNA in our chromosomes determining how we develop. Down syndrome is a genetic condition caused when there is an extra chromosome, meaning people with Down syndrome have 47 chromosomes in each cell instead of 46. It is the most common chromosome disorder occurring at contraception, affecting over 270 babies born in Australia per year since 2007 to parents of all ethnic, social and age groups. The population of people with Down syndrome in Australia is now over 13,000.

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Down syndrome is caused by a random error in cell division, leading to an extra chromosome copy of chromosome 21. When a cell divides into two, usually one pair of chromosomes goes into one cell and the other pair goes into the other cell. in Down syndrome, nondisjunction error occurs where both pairs of chromosomes go into one cell and no chromosomes go into the other cell. The error commonly and randomly occurs during the formation of an egg or sperm with no known cause, leading to all the person’s cells having three copies of chromosome 21 instead of two.  This is known as complete trisomy 21 and is the cause of 95% of Down syndrome cases. At this stage in time, no environmental or behavioural factors of parents is known to cause Down Syndrome however in more than 90% of cases the extra chromosome copy of chromosome 21 comes from the mother.  However, advancing maternal age increases risk of giving birth to a child with Down syndrome as older eggs have a greater risk of error in chromosome division.

Down syndrome is commonly recognised at birth and diagnosis is confirmed through a blood test but tests can be carried before the baby is born. After birth, Down syndrome is often suspected based on the baby’s appearance and a blood test called a chromosomal karyotype will be conducted. This test will analyse the child’s chromosomes and if an extra 21 chromosome is present in some or all cells then a diagnosis of Down syndrome is confirmed.

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Screening tests for Down syndrome is also offered to all pregnant women in Australia and while it is not a definite diagnosis it can tell you how likely the baby has Down syndrome. In the first trimester, screening involves a blood test and an ultrasound scan and is offered while the woman is between weeks 9-13 weeks 6 days of pregnancy. The blood test measures hormone levels in the blood which change during pregnancy free B-hcG and PAPP-A, with a presence of abnormal hormone levels indicating there may be a genetic condition. During the

ultrasound, the thickness of the nuchal translucency, a pocket of fluid at the back of the baby’s neck is measured with the nuchal translucency being larger in babies with Down Syndrome. Using the blood test and ultrasound, the chance of the baby having Down syndrome is worked out.

 

References:

Morris, JK; Mutton, DE; Alberman, E (2002). “Revised estimates of the maternal age specific live birth prevalence of Down’s syndrome.”. Journal of medical screening 9 (1): 2–6. PMID 11943789

American College of Obstetricians and Gynecologists (ACOG). Screening for Fetal Chromosomal Abnormalities. ACOG Practice Bulletin, number 77, January 2007. 1. NDSS. (n.d.). Elementary & secondary education. Retrieved June 11, 2012, from http://www.ndss.org/en/Education-Development–Community-Life/Elementary–Secondary-Education [top]

Winders, P. C. (n.d.). Gross motor development and Down syndrome. Retrieved June 11, 2012, from the NDSS website: http://www.ndss.org/en/Education-Development–Community-Life/Therapies–Development/Physical–Occupational-Therapy/#gross [top]

Kumin, L. (n.d.). Speech & language skills in infants, toddlers & young children with Down syndrome. Retrieved June 11, 2012, from the NDSS website: http://www.ndss.org/en/Education-Development–Community-Life/Therapies–Development/Speech–Language-Therapy/#infants

 

 

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