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Genetic Conditions

We are involved in the diagnosis and management of a range of genetic conditions which can be associated with developmental delay. We typically have 46 chromosomes in each cell (apart from our reproductive cells) and they contain DNA which is responsible for our genetic make up and making us who we are. We inherit one set of chromosomes from each parent and sometimes variations in our genetic make up can be inherited from our parents, and sometimes they can occur as a new variation. Variations occur all the time, and are what make us different to our parents, but occasionally these variations can cause difficulties.

These include conditions such as Down's Syndrome,  Tuberous Sclerosis (where benign growths occur in many areas of the body), Neurofibromatosis type 1 and 2 (a condition where there are growths on nerve tissue) and Fragile X (which can be associated with learning disabilities and autism).

Often when children are assessed for developmental delay, we will offer a genetic test called a Genetic Microarray to look at your child’s genetic makeup.

We work closely with other specialist paediatricians who are often involved in their care, as well as the genetics team in diagnosing and treating children.

What you can do to help

If you suspect that your child may have a genetic condition, talk to your GP or SENCO at school about your concerns and the appropriate route for further referrals.

How might my child be affected?

Genetics conditions can vary widely according to which genes are affected. They can be associated with both physical symptoms and mental difficulties which may include: Learning Disabilities, Autism and Attention Deficit Hyperactivity Syndrome.

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