How to manage a 12-year-old female with abnormal test results?

Management of a 12-Year-Old Female with Abnormal Test Results

When managing a 12-year-old female with abnormal test results, the pediatrician should first discuss the results directly with the adolescent before sharing with parents, obtaining her assent for disclosure, and developing a comprehensive plan that addresses both medical and psychological aspects of care.

Initial Approach to Abnormal Results

• Before discussing results with anyone, review the specific abnormalities to determine whether something other than substance misuse or other concerning conditions may explain the observed results 1
• Speak with the adolescent first, informing her about the unexpected results and asking for her perspective, which may yield more information than the test results alone 1
• Obtain the adolescent's consent to share results with parents; if she refuses, explain to parents that their child has not consented to release of information 1

Management Based on Result Type

For Drug Test Results

• If the adolescent's report matches positive drug test results:

  • Begin a conversation about next steps, which may include an abstinence trial, ongoing testing, and/or referral to counseling or treatment 1
  • If reports match point-of-care test results, confirmatory testing (which adds expense) could reasonably be omitted 1

• If the adolescent denies substance use despite positive results:

  • Consider possible false positives or alternative explanations 1
  • Present available information to parents only if consent has been obtained 1
  • Consider repeat testing; adolescents with serious substance use disorders are likely to have multiple positive results over time 1

• For negative drug test results:

  • While results may be reassuring, do not dismiss ongoing behavioral or mental health symptoms 1
  • Consider referral for more in-depth mental health evaluation if symptoms persist 1
  • Remember that a single negative result does not exclude substance use; consider the possibility of diluted samples or use of substances not detected by the panel 1

For Genetic Test Results

• For abnormal genetic test results:
  • Consider referral to clinical genetics for further evaluation, especially if results suggest developmental disorders 1
  • For suspected global developmental delay or intellectual disability, chromosomal microarray (CMA) and fragile X testing should be first-line tests 1
  • For females with developmental concerns, consider MECP2 testing 1

Ethical Considerations

• Respect the adolescent's growing autonomy and right to privacy while balancing parental involvement 1, 2
• Only breach confidentiality if the adolescent's behavior puts her at acute risk of harm to self or others 1
• When recommending further testing, explain the nature of proposed tests, their scope and complexity, and possible categories of results 2
• Obtain informed permission from parents and assent from the adolescent about the scope of additional testing to be performed 2

Common Pitfalls to Avoid

• Failing to discuss with the adolescent how test results will be managed before sending tests 1
• Dismissing ongoing behavioral or mental health symptoms just because a drug test result is negative 1
• Relying solely on test accuracy without considering the broader clinical context 3
• Omitting parts of the evaluation that patients or parents expect, which can damage the physician-patient relationship 4
• Failing to recognize that pediatric diagnostic errors remain common and require careful consideration of all available information 5

Follow-up Recommendations

• Develop a clear action plan for both positive and negative results before initiating testing 1
• Consider serial testing if initial results are inconclusive but clinical suspicion remains high 1
• For persistent concerns despite negative results, consider referral to appropriate specialists (mental health, genetics, etc.) 1
• Maintain open communication with both the adolescent and parents throughout the process, while respecting confidentiality 1