A genetic disorder is a health condition that is caused by an abnormality of a gene or chromosome in a person’s DNA. Mutations can occur in one gene or in multiple genes, by problems in chromosomes or by a combination of gene mutations and environmental factors. Occupational Therapy plays a significant role in supporting children with genetic disorders to engage meaningfully in all environments. While there is a whole range of common and rare genetic disorders, below we explain just a few.
Down Syndrome is a condition in which a person has a full or partial duplication of their 21st chromosome, meaning they have in total 47 chromosomes rather than 46. Down Syndrome is the most commonly occurring chromosomal condition and it is estimated that 1 in 1100 babies born in Australia will have Down Syndrome.
Just like everyone in the community, people with Down Syndrome have areas of strength and other areas in which they may need support. People with down syndrome may have an increased risk of other health conditions, some level of intellectual disability, physical characteristics and some developmental delays.
For more information, visit: Down Syndrome Australia
Fragile X Disorders are a family of genetic conditions which are caused by mutations in the FMR1 gene which is located on the X chromosome. Fragile X syndrome is within this family of genetic disorders and is the leading cause of inherited intellectual disability in Australia. These disorders can have physical and behavioural impacts on an individual as well as intellectual.
For more information, visit Fragile X Association Australia
Klinefelter (XXY) Syndrome
Klinefelter Syndrome occurs when a male is born with an extra X chromosome. It is a genetic condition that it not inherited and affects approximately 1 in 450 men. Young boys with Klinefelter syndrome may have difficulties with physical developmental milestones such as walking, low muscle tone and learning or behavioural difficulties.
William’s (Beuren) Syndrome
William’s Syndrome is a rare genetic condition that is caused by the absence of genetic material on chromosome 7. It is characterized by physical traits, cognitive delays and heart abnormalities. William’s syndrome affects approximately 1 in 10,000 Australians.
For more information, visit William’s Syndrome Association
Ehlers Danlos Syndrome
The Ehlers Danlos Syndromes (EDS) is a group of genetic disorders impacting the structure and function of collagen and connective tissue proteins in the body. There are 13 types of Ehlers-Danlos syndromes and all but one (Hypermobile EDS) are linked to variations in genetic material. These syndromes are generally characterized by joint hypermobility, joint instability, dislocations, scoliosis and other joint deformities.
For more information, visit Ehlers-Danlors Society
Sanfilippo is a rare genetic condition that causes the lack of an enzyme called ‘heparan sulphate’ resulting in progressive brain damage. Being a metabolic disorder, Sanfilippo is considered as part of a group of conditions called ‘childhood dementia’. Over time, children experience increasingly severe cognitive decline, difficulties with sleep, mobility and speech as well as cardiac and neurological conditions. It is estimated that there are approximately 75-100 children with Sanfilippo in Australia.
For more information, visit Sanfilippo Children’s Foundation
KBG syndrome is a rare genetic disorder caused by mutations or loss of genetic material on chromosome 16q. It is often characterized by short stature, speech and hearing impairments, physical traits and a degree of developmental delay or intellectual disability. Currently, no more than 150 cases have been reported in the medical literature.
At Occupational Therapy Helping Children we see children with many different genetic disorders. If you would like to learn more about our services at Occupational Therapy Helping Children and how we can help your child, please get in touch.