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Genetic conditions

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The community paediatrics team is involved in the diagnosis and management of a range of genetic conditions which can be associated with developmental delay.

What are genetic conditions

We all typically have 46 chromosomes in each cell (apart from our reproductive cells) which contain DNA. DNA is responsible for our genetic make up and for making us who we are.

We inherit one set of chromosomes from each parent. 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.

This includes conditions such as down's syndrome, tuberous sclerosis, neurofibromatosis and Fragile X. Read more about these conditions.

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 your child's care, as well as the genetics team in diagnosing and treating children.

Types of genetic conditions

What you can do to help

If you think that your child may have a genetic condition, talk to your GP or SENCO at school about your concerns. They will be able to explain the appropriate route for further referrals.

How your child might be affected

Genetic 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 ADHD. 

Last reviewed: 1 November, 2023


Who can help

If you have any questions or concerns about your child's health, a health professional in our team will be able to offer advice and support. You can call us on 0300 029 50 50.

Open Monday to Friday 8:30am to 4:30pm (excluding bank holidays).

Have your say

Please tell us about your recent experience with any of our services by answering a few simple questions. We want to hear about what you felt went well and what you think we could do differently. 

Your voice makes a difference and helps us improve our services for you and other families.

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