Identifying Symptoms of Distress in Youth Living with Neurofibromatosis Type 1 (NF1)

Lori Wiener, Haven Battles, Sima Zadeh Bedoya, Andrea Baldwin, Brigitte C. Widemann, Maryland Pao

Research output: Contribution to journalArticlepeer-review

9 Scopus citations


Children and adolescents with Neurofibromatosis type 1 (NF1) are at increased risk for wide-ranging behavioral, developmental, and cognitive impairments and decreased quality of life. To date, no psychosocial screening tool has been developed to quickly assess the symptoms that 1) can be addressed during routine medical appointments in children with NF1, 2) can produce interpretable and actionable results, 3) can be integrated into medical care, and 4) can quickly identify patients at risk in order to better address that the provision of appropriate care are available. This study was conducted to test the overall usability of the Distress Thermometer (DT) and symptom checklist and concordance of DT ratings between pediatric patients, their caregivers and medical providers. Eighty youth (ages 7–21) living with NF1 completed the DT and an accompanying checklist. The findings of this study suggest the DT and symptom checklist was acceptable and feasible to complete in a clinic setting. A small subset reported high distress that required further assessment and intervention. Significant discordance between distress ratings of caregivers and children and healthcare providers was also found. Overall, the DT and accompanying symptom checklist provide important information to identify the presence of distress and contextualize the child’s distress but is limited by not assessing whether these symptoms interfere with the child’s daily life.

Original languageEnglish (US)
Pages (from-to)115-123
Number of pages9
JournalJournal of Genetic Counseling
Issue number1
StatePublished - Feb 1 2018


  • Neurofibromatosis-1
  • Pediatric distress screening
  • Psychosocial assessment

ASJC Scopus subject areas

  • Genetics(clinical)


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