Searching for a Diagnosis
The process leading to a diagnosis for a child’s condition is not always an easy one. Many questions are raised that can’t always be answered. Some neurologic disorders are usually identified and diagnosed at birth (for example, Down syndrome), but others are not detectable or do not show themselves until later in childhood (for example, autism, ADHD). 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 show itself. It may be necessary to wait until developmental milestones, such as speaking and walking, are or are not achieved.
However, doing as much as possible as early as possible is vitally important in working towards the best outcome.
Why is a diagnosis important?
It is important to get a diagnosis so that you and the professionals involved can begin to understand the cause of your child’s symptoms or presenting features and identify his or her needs. Having identified the cause, professionals can design treatment strategies to help manage symptoms. Identifying your child’s treatment needs makes access to support services easier.
A child may be referred for a range of assessments to identify what is causing his or her symptoms. Some children with a suspected neurologic disorder may need a neurologic assessment, a neuropsychological assessment or a brain scan.
Some common brain scanning methods include:
Computerized tomography (CT) This uses X-rays to show an image of the brain. It can reveal underdeveloped parts of the brain, as well as sites of trauma, tumors, lesions or infections.
Magnetic resonance imaging (MRI) MRI uses a strong magnetic field and radio waves to create pictures on a computer of the structure of the brain. It provides clear, detailed pictures of the brain and can detect many different types of brain abnormalities.
Positron emission tomography (PET) This produces images of of the brain that reflect the brain’s functional activity amdnot just its structures. The patient receives a small injection of radioactive material into their bloodstream that is detected by special scanning methods. It has proved to be particularly useful in monitoring seizures, visual problems, tumors and metabolic processes.
Other assessments of physical changes Other techniques that can be used to evaluate children for an underlying neurologic condition include:
- Blood testing
- Ultra-sound scans
- Chromosome studies
- Developmental tests
- Electroencephalogram (EEG)
- Electromyography (EMG)
- Hearing assessments
- Genetic testing
- Genetic counseling
- Vision assessments
Further information on neurologic tests can be found on the National Institute of Neurologic Disorders and Stroke website: https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Neurological-Diagnostic-Tests-and-Procedures-Fact
Receiving a diagnosis
Once your child has been diagnosed, you may require the following:
- General information about the condition
- 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 come to terms with the diagnosis
- Peer support
Difficulty getting a diagnosis
In some cases, identifying the cause of a condition can be very complex. Some children have a variety of symptoms or presenting features that make it difficult to associate with any one condition. A number of different conditions have similar symptoms and features and 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, resulting in a late diagnosis, or even a change in diagnosis.
A parent or caregiver is with a child more than anyone else and gets to know them very well. Caregivers should try to help professionals by describing symptoms and presenting features and problems accurately. Bringing in journals that describe a child’s symptoms in the home setting or even a video that captures the symptoms can be very helpful for a provider. 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 or a child may never get a diagnosis, despite having symptoms or presenting features. A child may have a condition about which little is known and a diagnosis may not be possible at the time of initial evaluation. This does not mean that there are no treatment options available. There are many ways of treating specific symptoms and many ways to support additional 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.
To learn more about how to deal with genetic or rare conditions that have no definitive diagnosis, see this information from the National Institutes of Health (NIH): Learning about an Undiagnosed Condition in a Child.
The Global Genes Project has developed a resource for people with undiagnosed conditions called “Becoming An Empowered Patient: A Toolkit For The Undiagnosed.” https://globalgenes.org/toolkits/becoming-an-empowered-patient-a-toolkit-for-the-undiagnosed/introduction-2/
Additional resources for families of children with rare undiagnosed conditions include:
- National Organization for Rare Disorders (NORD) NORD is a federation of voluntary health organizations dedicated to helping people with rare “orphan” diseases and assisting the organizations that serve them.
- Syndromes Without A Name (SWAN) Syndromes Without A Name USA (SWAN USA) is a non-profit tax-exempt organization that offers support, information and advice to families of children living with a syndrome without a name.
- GeneTests A searchable directory of United States and international genetics and prenatal diagnosis clinics. Go to the following link for “Find a Genetic Counselor” and click on “Clinic Directory” to find a genetic service close to you.
- National Institute of Neurological Disorders & Stroke Information o neurological and neurodevelopmental disorders from the leading supporter of biomedical research on the brain and nervous system.
- Find a Genetic Counselor A database of genetics counseling services, searchable by location, name, institution, type of practice, or specialty. This site is hosted by the National Society of Genetic Counselors.
- Genetic Centers, Clinics and Departments A comprehensive resource list for genetic counseling, including links to genetic centers and clinics, associations and university genetics departments. Hosted by the University of Kansas Medical Center.
- Office of Rare Diseases Research (ORDR) The Office of Rare Diseases Research is an office at the National Institutes of Health. This link provides general information about clinical trials.
- Finding Reliable Health Information Online A listing of information and links for finding comprehensive genetics health information online.
CNF hosts the Disease Directory, featuring disease-specific articles written by neurologists, which are paired with personal family stories and additional resources. – Learn More