Before a Diagnosis
On this Page
Introduction
Suspecting and then finding a developmental or medical health problem and
its cause in a child is straightforward for some patients and families, but for
others it may not be easy, could take a long time, and might need a lot of testing
and experts’ views. For a few children, a diagnosis may not be found or may need to
wait for new scientific discoveries.
Below, we give an introduction to the steps involved in recognizing a
problem and then seeking its cause. At each step, families and doctors should work
together, sharing concerns, knowledge, ideas, goals, and fears. This is the basis of
the medical home model of care (see About Medical Home) and should lead to the best results for you and
your child.
Identifying and Diagnosing Problems
Early identification of medical, developmental, sensory (vision or
hearing), and mental health problems in children can allow early care and better
results for those children and their families. Key roles of a child’s primary care
doctor (his or her medical home) are listening to parents’ concerns, watching for
signs or symptoms, and screening for problems that have yet to result in signs or
symptoms.
When a problem is suspected because of parental worry or a screening
test’s results, further testing, exam, visits with specialists, or even hospital
stays may be the next steps.
Screening Tests
Screening tests aim to find health problems in children that:
- Are often not easy for parents or doctors to spot and may be rare
- Could be helped with early treatment
Screening tests should be performed for all children who meet certain
criteria (such as all newborns, all children born by C-section, all 4-month-olds,
all adolescents with a family history of early heart attacks, and so on). There may
be questionnaires to be filled out by parents or patients, blood or urine tests,
vision or hearing tests, ultrasound exams, skin tests, full exams, or even a set of
questions asked by a child’s doctor.
In a perfect world, each screening test would be “sensitive” enough to
find the condition in all children, but no test is that effective. The more
sensitive a test is, the more “false positive” tests will result, raising concerns
about children who really don't have the health issue. But, if the test is not
sensitive enough, children with the health issue may be missed—the result of a
“false negative” test.
A positive screening test can cause worry, but more testing is always
needed to decide whether the child has the health issue and to know its cause.
Screening tests should not be used when there is already a concern, rather, further
testing should be pursued right away.
Examples of screening tests are:
- Newborn heel stick and hearing tests
- Ultrasound tests looking for dislocated hips in infants born by C-section
- Maternal depression questionnaires
- Developmental questionnaires filled out at well-child checks
- Blood tests looking for lead exposure in toddlers
- Vision tests done in doctor's offices or schools
For more, see our Screening Tests and the Diagnostic Process page.
When There are Concerns
From Your Doctor
Primary care doctors are trained to look for early signs of problems.
Yours may suspect a problem based on findings from a screening test, a full
exam, or your child’s past.
From You
Family members often have concerns about their infants and children.
If you’re wondering whether something is normal, talking with your medical home
doctor about this is very important. Don’t keep your concerns to yourself. If
you find it hard to talk about something in front of your child, call the office
before the visit or let the office staff know that you would like to speak with
the doctor alone for a part of the visit. Mentioning this when you make the
appointment will help the office plan a visit that is long enough to talk about
it. Keeping a list of your questions can also be helpful (see Care Notebook).
What Happens Next
After a concern has been raised, the next step is to try to find a
diagnosis and cause. This will likely involve tests and referrals to
specialists. After your child’s health issue has been diagnosed, the best thing
is to work with the medical home (your child’s primary care doctor and their
team) to decide how to treat it and to arrange any needed specialty care and
support.
Diagnosis
A diagnosis is a name for a medical, developmental, behavioral, or
genetic condition.
- Some children will have more than one diagnosis, and these can be related. For example, a child may have a diagnosis of cerebral palsy and also have spasticity and seizures. The diagnoses help parents and medical and school systems provide appropriate support for the child. The Diagnoses & Conditions section of the Portal has information on over 50 conditions or diagnoses in children.
- In some cases, the diagnostic process is done to “rule out,” or exclude, suspected conditions or health issues for which a child is at risk. For example, if a loud heart murmur is heard, a test might be done to rule out a certain condition, such as a congenital valve defect. If no abnormality is found, the murmur may then be described as “benign” or not harmful.
Testing and Referrals
Testing and referrals are often part of the diagnostic process.
Tests can include medical imaging (such as x-rays or MRIs), lab tests, or
other kinds of tests, such as psychological testing for autism. The medical
home may send your child to other specialists, such as an audiologist, a
geneticist, or an orthopedic surgeon, to do more evaluations in their area
of expertise. See the Medical Home Portal Services Directory and the Services section, below.
Follow-Up
- The medical home should gather all the diagnostic information, such as lab and imaging reports, evaluations, and recommendations from specialists, before the follow-up visit.
- The medical home doctor will work with the family to make a care plan, watch for changes, and determine if further testing and referrals are needed. Families should keep track of records, which is very helpful if the child is medically complex (see Care Notebook).
- For children with care plans, such as Seizure Action Plans or Asthma Action Plans, bringing them to visits can help keep them up to date. Bringing or taking pictures of all the medications prescribed to the child helps the medical home keep up-to-date records and check for drug interactions.
- Sometimes a child’s diagnosis is very hard for the family. Talking about this during visits with the doctor can be helpful. He or she may be able to answer questions, help you understand details, sort through your choices, and link you with key resources, support groups, parent-to-parent connections, and more. Also see the Resources and Services sections, below.
Resources
Information & Support
For Parents and Patients
Utah Parent Center
A nonprofit organization that provides training, information, referral, and assistance to parents of children and youth with
all disabilities including physical, mental, hearing, vision, learning, behavioral, and emotional. Staff consists primarily
of parents of children and youth with disabilities.
Center for Parent Information & Resources Locator
Parent Centers provide education and referrals for families with a child who has a disability, as well as the professionals
who work with them. Each state has a parent center.
Learn the Signs. Act Early (CDC)
Offers many tools, videos, lists, learning materials, and an app to track a child’s developmental milestones (ages 2 months
to 5 years) and act if concerned about progress; Centers for Disease Control and Prevention.
Services for Patients & Families in Utah (UT)
| Service Categories | # of providers* in: | UT | NW | Other states (5) (show) | | ID | MT | NM | NV | RI |
|---|---|---|---|---|---|---|---|---|---|---|
| Audiology | 52 | 2 | 29 | 51 | 280 | 7 | 24 | |||
| Developmental Assessments | 44 | 139 | 11 | 255 | 3 | 30 | ||||
| Early Intervention for Children with Disabilities/Delays | 52 | 2 | 153 | 24 | 167 | 28 | 14 | |||
| Genetic Testing and Counseling | 11 | 5 | 6 | 67 | 18 | 2 | ||||
| Local Support Groups, General | 51 | 165 | 15 | 174 | 58 | 7 | ||||
| Newborn Screening Services | 4 | 2 | 24 | 5 | 3 | 3 | 2 | |||
| Occupational Therapy, Pediatric | 41 | 25 | 35 | 294 | 14 | 11 | ||||
| Pediatric Genetics | 6 | 1 | 4 | 7 | 3 | 3 | 4 | |||
| Physical Therapy | 62 | 33 | 35 | 348 | 18 | 3 | ||||
For services not listed above, browse our Services categories or search our database.
* number of provider listings may vary by how states categorize services, whether providers are listed by organization or individual, how services are organized in the state, and other factors; Nationwide (NW) providers are generally limited to web-based services, provider locator services, and organizations that serve children from across the nation.