Before a Diagnosis

Young girl with doll, provider and mom in background
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

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.


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.


  • 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.


Information & Support

For Parents and Patients

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 New Mexico (NM)

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.

Authors & Reviewers

Initial publication: January 2013; last update/revision: January 2019
Current Authors and Reviewers:
Author: Chuck Norlin, MD
Reviewer: Tina Persels