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Before a Diagnosis

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Introduction

Suspecting and then identifying a developmental or chronic medical condition and its cause in a child is straightforward for some patients and families, but for others the process may be difficult, take a long time, and require lots of testing and experts’ opinions. For a few children, a diagnosis may not be found or may need to wait for new scientific discoveries.
Below, we provide an introduction to the processes involved in recognizing a problem and then seeking its cause or diagnosis. At each step, we encourage families and physicians to work together, sharing concerns, knowledge, ideas, goals, and fears. Such a partnership is the foundation 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 (e.g., vision or hearing), and mental health problems in children can allow early treatment or other care that can, in turn, make a big difference in outcomes for those children and their families. Key roles of a child’s primary care clinician (which we’ll refer to here as his or her medical home) include addressing parents’ concerns, monitoring for signs or symptoms, and performing screening tests for problems that have yet to result in signs or symptoms.
When a problem is suspected, whether based on parental concern, physician concern, or findings from a screening test, further testing, examination, consultation with specialists, or even hospitalization may follow.

Screening Tests

Screening tests aim to identify children who have problems or conditions that:
  • are often difficult for parents or physicians to recognize and may be uncommon or rare
  • could benefit from starting treatment or avoiding an exposure before the problem is obvious
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, etc.). They may include questionnaires to be completed by parents or patients, blood or urine tests, vision or hearing tests, ultrasound exams, skin tests, things done during physical exams, or even a set of questions asked by a child’s physician.
Ideally, each screening test would be “sensitive” enough to detect every child who has the condition, but no test is that reliable. The more sensitive a test is, the more “false positive” tests will occur, raising concern about children who don’t have the condition. However, if the test is not sensitive enough, children with the condition may be missed—the result of a “false negative” test.
A positive screening test raises concern, but additional testing or evaluation is always required to determine whether the child has the condition and to understand its cause. Screening tests should not be used when a concern already exists, rather the additional testing should be pursued directly.
Examples of specific screening tests include:
  • Newborn heel stick and hearing tests
  • Ultrasound tests looking for dislocated hips in infants born by C-section
  • Questionnaires to identify maternal depression
  • Developmental questionnaires completed at well-child checks
  • Blood tests looking for lead exposure in toddlers
  • Vision tests done in primary care offices or schools
For further information, see our Screening Tests and the Diagnostic Process page.

When There are Concerns

From Your Physician

Primary care clinicians are trained to look for early signs of problems. Yours may suspect a problem based on findings from a screening test, your child’s history, or physical exam. He or she may express concern about something you had not noticed or worried about, but often the concern will be based on something you share during a visit.

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 clinician about this is essential. Don’t keep your concerns to yourself. If you find it difficult 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 clinician separately for a portion of the visit. Mentioning this when you make the appointment will help the office schedule a visit that is long enough to address your concerns. Keeping a list of your questions can also be helpful (see Care Notebook).

What Happens Next

After a concern has been raised, the focus turns to finding a diagnosis and understanding its cause, likely to involve tests and referrals to specialists. After the child’s condition has been diagnosed, it is important to work with the medical home to determine how to address it and to coordinate any needed specialty care or other services and resources related to the diagnosis.
Before a Diagnosis

Diagnosis

A diagnosis is a name for a specific medical, developmental, behavioral, or genetic condition. Some children will receive multiple diagnoses, 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 the parents and the medical and educational systems provide appropriate support for the child. The Diagnoses & Conditions section of the Portal has information on over 40 chronic conditions or diagnoses in children.
In some cases, the diagnostic process is done to “rule out,” or exclude, suspected conditions, or conditions for which a child is at risk or about which there is concern. For example, if a loud heart murmur is heard, an evaluation might aim to rule out a specific heart 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 (e.g., x-rays, MRIs), lab tests, or other kinds of tests, such as psychological testing for autism. The medical home clinician may refer your child to other specialists, such as an audiologist, a geneticist, or an orthopedic surgeon, to perform more detailed evaluations in their area of expertise. See Services Directory and the Services section, below.

Follow-Up

The medical home clinician should gather all the diagnostic information, including lab and imaging reports, evaluations, and recommendations from other specialists before the follow-up visit. He or she will work with the family to develop an ongoing care plan, monitor changes in the child’s condition, and determine if further testing and referrals are needed. Families can help by keeping track of information, particularly if the child is medically complex (see Care Notebook). For children with care plans, such as Seizure Action Plans or Asthma Action Plans, bringing the plans to visits can help assure that they are updated. Bringing the original bottles/containers of medications prescribed by other providers helps the medical home keep up-to-date records and check for possible drug interactions. Sometimes a family receives a diagnosis that is very difficult to hear, and talking about this during follow-up visits with the medical home clinician is important. He or she may be able to answer lingering questions, help you understand or process details, sort through and prioritize your options, and connect 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

Support

Family Support and Information Organizations (PDF Document 33 KB)
National organizations that provide support, information, and resources to families of children with special health care needs, assembled by Utah Family Voices.

General

Center for Parent Information & Resources Locator
Parent Centers are for families with a child who has a disability, as well as the professionals who work with them.

First Signs
A national nonprofit organization dedicated to educating parents and pediatric professionals about the early warning signs of autism and other developmental disorders. Includes developmental milestones, red flags, and communication needs of parents and physicians.

Learn the Signs. Act Early (CDC)
Tools, videos, lists, and learning materials to track a child’s development (ages 2 months to 5 years) and act if concerned about progress; Centers for Disease Control and Prevention.

Services

Audiology

See all Audiology services providers (14) in our database.

Developmental Assessment

See all Developmental Assessment services providers (9) in our database.

Early Intervention for Children with Disabilities/Delays

See all Early Intervention for Children with Disabilities/Delays services providers (21) in our database.

Genetics, Prenatal

See all Genetics, Prenatal services providers (5) in our database.

Local Support Groups, General

See all Local Support Groups, General services providers (4) in our database.

Newborn Screening Programs

See all Newborn Screening Programs services providers (3) in our database.

Occupational Therapy, Pediatric

See all Occupational Therapy, Pediatric services providers (29) in our database.

Pediatric Genetics

See all Pediatric Genetics services providers (6) in our database.

Physical Therapy

See all Physical Therapy services providers (30) in our database.

For other services related to this condition, browse our Services categories or search our database.

Authors

Author: Chuck Norlin, MD - 1/2013
Reviewing Author: Tina Persels - 2/2013
Content Last Updated: 5/2016