About SMC

At SMC Speech Pathology based in Moonee Ponds, Melbourne, we pride ourselves on providing a quality service. Our aim is to improve the quality of life for all children who require support be it for a simple lisp or for a more severe disability. We strive to provide evidence based practice and care above and beyond what is necessary or expected. We are approachable and always willing to listen to parents/guardians, as your thoughts, feelings and expertise as a parent are always welcome.

Down Syndrome

What is Down Syndrome?

Down Syndrome occurs at conception, across all ethnic and social groups and to parents of all ages. There is no cure and it does not go away. Down Syndrome is usually recognised at birth and is confirmed by a blood test. It was named after Dr John Langdon Down who first described it.

Down Syndrome is the most common chromosome disorder . One in every 700-900 babies born worldwide will have Down syndrome. This number has not changed significantly since statistics on the disorder have been collected.

 

People with Down Syndrome have: 

  • some characteristic physical features
  • some health and development challenges
  • some level of intellectual disability

 

If my child has Down Syndrome can they have other associated disorders?

 

In children with Down Syndrome there is a higher prevalence for the following: (these are relatively easy to diagnose and treat)

  • Disorders of hearing
  • Disorders of vision
  • Infections
  • Disorders of thyroid function
  • Constipation and diarrhoea
  • Congenital disorders of the heart
  • Atlanto-axial instability
  • Sleep disturbances

 

What chromosomal disorder is associated with Down Syndrome?

Down syndrome is a specific chromosomal disorder resulting from the presence of an extra chromosome. Chromosomes contain genetic information people need to grow and develop. Each chromosome is made up of DNA, which contains encoded genetic instructions (genes) for the development of all the structures and functions in the body. Every chromosome contains thousands of genes. Each cell in the human body usually contains 46 chromosomes arranged in 23 pairs, which are labelled 1-23. In people with Down Syndrome, an extra copy of chromosome 21 is present.

 

What are the types of Down Syndrome?

  • Trisomy 21: Ninety five percent of people with DS have trisomy 21. In this type of DS, every cell in the body has an extra chromosome 21.
  • Mosaic Down syndrome: One to two percent of people with DS have mosaic DS. In this type of DS, only some cells have the extra chromosome 21. The rest of the cells have the usual genetic composition. This sometimes leads to a milder level of intellectual disability and less obvious physical features of DS.
  • Translocation Down syndrome: Three to four percent of people with DS have translocation DS. In this type of DS, extra chromosome 21 material is attached – or translocated– to a different chromosome. This variation does not significantly change the effect of the DS. Translocation DS is sometimes hereditary.