Searching for a Diagnosis

Searching for a Diagnosis


Diagnosing a child’s condition can be challenging. Many questions are raised. There are not always answers.

Some neurologic disorders are usually identified and diagnosed at birth. Down syndrome is one example. However, others are not detectable or do not show themselves until later in childhood. Autism and ADHD are examples of this. Some children have multiple diagnoses.

Even if a diagnosis is given at birth, it is not always possible for professionals to know exactly how the disorder may present. It may be necessary to wait until developmental milestones are or are not achieved. Milestones include speaking and walking.

However, doing as much as possible as early as possible is vitally important. This allows families and providers to work together towards the best outcome.

Why Is a Diagnosis Important?

When your child’s condition is diagnosed, you and the professionals involved can begin to understand the cause of it. You can also identify his or her needs.

Professionals can then design treatment strategies to help manage symptoms. Identifying your child’s treatment needs makes access to support services easier.

Diagnostic Techniques

A child may be referred for a range of assessments. These will help identify the cause of symptoms. Some children with a suspected neurologic disorder may need:

  • A neurologic assessment
  • Neuropsychological assessment
  • Brain scan

Some common brain scanning methods include:

Computerized tomography (CT)

A CT uses X-rays to show an image of the brain. It can reveal:

  • Underdeveloped parts of the brain
  • Sites of trauma
  • Tumors
  • Lesions
  • Infections

Magnetic resonance imaging (MRI)

MRI uses a strong magnetic field and radio wave technology. It creates pictures of brain structure. These pictures are clear and detailed. MRI can detect many brain abnormalities.

Positron emission tomography (PET)

PET provides more than a look at the brain’s structures. It produces images that reflect the brain’s functional activity. The patient receives a small injection of radioactive material into their bloodstream. Special scanning methods then detect this. PET has proven to be particularly useful in monitoring:

  • Seizures
  • Visual problems
  • Tumors
  • Metabolic processes

Other Assessments of Physical Changes

A provider may use other techniques to evaluate children for an underlying neurologic condition. Methods include:

  • Blood testing
  • Ultrasound scans
  • Chromosome studies
  • Developmental tests
  • Electroencephalogram (EEG)
  • Electromyography (EMG)
  • Hearing assessments
  • Genetic testing
  • Genetic counseling
  • Vision assessments
  • X-rays

Receiving a Diagnosis

Once your child has been diagnosed, you may require the following:

  • A description of potential symptoms
  • Information on the management of symptoms (including who will be part of your child’s health care team)
  • Safety information
  • Details of treatment options and any risks
  • Information on the expected course of the condition
  • Information to help understand and accept the diagnosis
  • Peer support

In some cases, identifying the cause of a condition can be complex. Children can have a variety of symptoms or presenting features. This can make it difficult to identify any one condition.

A number of different conditions have similar symptoms and features. Some children may have a range of symptoms. Children also experience conditions differently. Some features of a condition may not appear until a child is older. This can result in a late diagnosis, or even a change in diagnosis.

A parent or caregiver is with a child more than anyone else. They get to know them very well. So, caregivers should try to help professionals by describing symptoms and presenting features accurately.

Taking notes on a child’s symptoms in the home setting can be helpful for the provider. A video that captures the symptoms can be too. Childcare workers, teachers, or others may also notice symptoms or presenting features that could lead to a diagnosis.

What to Do If You Can’t Get a Diagnosis

It may take a long time to get a diagnosis. A child may also never get a diagnosis. This can occur despite having symptoms or presenting features. A child may have a condition about which little is known. This can make a diagnosis impossible at the time of the initial evaluation. This does not mean that there are no treatment options available.

There are many ways to treat specific symptoms. In addition, there are many ways to support a child’s needs, with or without a diagnosis. Information, advice, and a range of services are available. Ask your child neurologist or pediatrician what services are available for your child and your situation.

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