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Diagnosis

Information for parents, wider family members, and anyone else who might be interested in finding out more about diagnosis of a learning disability. 

What is diagnosis?

Diagnosis is the formal process by which a learning disability - and indeed other disabilities or conditions - is identified.

Some people will want to find out information as soon as they are told their child has a learning disability or as soon as they suspect their child may have one. Others will want to take their time to digest the news. Everyone is different. There is no right or wrong way.

About diagnosis

Diagnosis can sound like an overly medical term; and, in some ways, it is. 

It is primarily delivered by a health professional – usually a paediatrician – and is often based on a child’s medical symptoms.

A woman with Down syndrome sitting on a hospital bed being examined by a doctor

Getting a diagnosis

It is important to remember; diagnosis often does not give you an accurate impression of what your child can and cannot do and how they will develop.

It does not tell you what your child is and will be like or what your life will be like as parents, relatives or friends.

It is, by and large, guess work. So, while you may feel that getting a diagnosis is something you would value, it is also essential to remember that nothing helps you understand your child’s needs better than your interactions with them.

Questions and Answers about diagnosis

All pregnant women in England are offered a screening test for Down’s syndrome, Edwards’ syndrome and Patau’s syndrome between 10 and 14 weeks of pregnancy. This is to assess your chances of having a baby with these conditions. It is your choice whether to have the test. You can discuss each test you are offered with health professionals, and decide based on your own circumstances whether or not it is right for you. You can also change your mind at any stage

If you want to start a family but have concerns about existing genetic difference, or you have received a test identifying a genetic difference in your baby, you can contact a genetic counsellor through one of the regional genetic centres across the UK.

Genetic counselling is provided free by the NHS , if you are referred by your hospital. We would encourage you to ask your doctor or midwife for a referral to genetic counselling if you feel you would benefit from this.

The National Centre of Health and Care Excellence (NICE) recommends that new parents who receive a diagnosis of genetic difference should have a pathway of support mapped out before the baby is born, so that everything is in place for the baby and their parents to access the support they need. 

As a parent, you should be involved in the process of planning this pathway, so that your wishes and preferences can be taken into account. You should ask your doctor or midwife if your hospital has a screening pathway in place, so that you can understand what options are available to you. You can also find out more information about local support through your local authority’s Local Offer.

  • Ask to be referred to a genetic counsellor 
  • Ask your doctor or midwife if your hospital has a screening pathway in place 
  • Read up about genetic difference 
  • Seek support from peers and specialist organisations  
  • Check your local authority’s Local Offer on your council’s website

More about diagnosis

The Learning Disability Helpline

Our free helpline service offers advice and support for people with a learning disability, and their families and carers.

Find out more

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