Getting a diagnosis

Donna talks about her experiences of getting a diagnosis for her two children with autism.

Why is it sometimes hard to get a diagnosis?

There are a number of reasons why getting a diagnosis can be difficult:

  • there are more than 6,000 known rare conditions - doctors rarely see children with these conditions, making it harder to recognise them when they do
  • different conditions can have similar features or symptoms
  • some children have a number of features or symptoms that do not fit into one specific condition
  • there are significant variations in the way that a condition can affect different children
  • certain things that indicate a condition may not appear until your child is older - this may result in a late diagnosis or even a change in diagnosis.

Because of improvements in science and medicine, there may be a belief that doctors can always find out why something has happened to your child. Sometimes this isn't the case and this can be disappointing.

Who can help with diagnosis?

If your child is under five years of age, a health visitor may be a vital source of support. Many parents discuss their concerns about their child's development with their health visitor first.

Often, the first point of contact for parents with concerns about their child will be their general practitioner (GP).

Your GP may refer your child to a paediatrician - who specialises in conditions affecting children.

They, in turn, may contact a specialist (also called consultant), who may look at a particular area of the body or a particular group of conditions.

Other health professionals may be involved in helping to assess your child and how well can they cope with certain activities. For example:

  • speech and language therapists (SALTs) help children learn to communicate, either through speech or other methods; they can also help if there are problems with eating, drinking and swallowing
  • physiotherapists help in the management and development of movement skills - there are a number of ways in which children can be helped, including exercises to strengthen weak muscles, and games to improve coordination and motor skills
  • occupational therapists (OTs) look at hand-eye coordination, perception and manipulative skills; they can advise and provide suitable aids to help with everyday activities.

Our guide Concerned about your child [PDF] lists the professionals who may be able to help you if your child has problems with:

  • speech and communication
  • feeding and eating
  • toilet training and incontinence
  • behaviour
  • learning and attention
  • sleeping.

What can parents do?

You may suspect a particular type of condition, so you could ask for a referral to a specialist service (for example for metabolic disorders). If you want to do this, it is helpful to take a list of all the ways your child is affected along to the appointment to explain why the referral is needed.

If you think your child may benefit from a particular assessment or testing, then discuss this with your medical professional. If you find reliable evidence to support this bring a copy a long to your appointment to show the doctor.

If it is suspected that the cause of your child's difficulties is genetic, then your GP or paediatrician may refer to a genetics service, which is based at a regional genetics centre.

Your right to health services

Visit our page about health services to find out what you and your child are entitled to. The page has information about NHS services in the UK that you might find useful, including child development teams and community dentists.

Visiting a genetics centre

We talked to Adam Shaw, Consultant in Clinical Genetics at Guy's Hospital and he answered common questions that parents have when visiting a genetic service.

We've split this into three short podcasts:

What to do if you are not happy

If you feel strongly that all ways of getting a diagnosis have not been explored, you may be able to get a second opinion.

You can go back to your GP and ask them to refer you to a different specialist. Try to avoid being confrontational, but be firm. Take along the list of things your child finds difficult and also explain the reason you are asking for the referral, giving examples if possible.

If you would like a second opinion after receiving advice from your GP, you can ask them to refer you to another GP at the same, or a different practice.

Related information


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