Neurofibromatosis Type 1 (NF1): Addressing the Transition from Pediatric to Adult Care

Figures & data

Table 1 Comparison of Pediatric and Adult Health Care Models

Health Care System Characteristic	Pediatric Care Model	Adult Care Model
Practice Approach	● Family-centered ● Shared decision-making with parents	● Patient-centered ● Shared decision-making with patient
Clinic Location or Affiliation	● Frequently located in children’s hospitals	● Located in academic hospitals or private office-based settings ● NF care may be provided by general healthcare provider
Multidisciplinary Staffing	● Multiple subspecialists often available for multidisciplinary team approach to care - “one-stop shop”	● Few or no “one-stop shop” multidisciplinary clinics. Separate referrals and appointments for each specialist needed.
Care Coordination and Access to Support Services	● Coordination of care often provided by clinic coordinator or nurse navigator ● Social work and case management support often available	● Care coordination services often not provided ● Few public care coordination programs are available for adults with NF1 ● Less social work and case management staffing and support available
Length of Appointment	● Longer	● Shorter
Patient Time Alone with Healthcare Provider	● Sometimes, part of visit	● Entire visit, with need for patient permission for others to be present
Patient Role as Self Advocate	● Less, given parental support/presence during visit	● Essential
Scheduling Appointments and Medication Refills	● Parent/guardian	● Patient
Adherence to Care	● More frequent reminders and support from healthcare system ● Healthcare provider has the duty to report non-adherence that rises to the level of medical neglect	● Expectation of self adherence - often no appointment reminders or follow-up from missed appointments ● Healthcare provider has no reporting duty of non-adherence unless patient has a court-appointed guardian and is being neglected per provider opinion

Note: The table was modified from Got Transition® website.⁵

Table 2 Potential Health Risks in Adults with Neurofibromatosis Type 1

System	NF1 Manifestation
Malignancy/Tumors	● Cutaneous neurofibromas  ● Plexiform neurofibromas  ● Malignant peripheral nerve sheath tumors (MPNST)  ● Breast cancer*  ● Pheochromocytoma  ● Gastrointestinal stromal tumors (GIST)  ● Non-optic pathway and low-grade gliomas
Cardiovascular	● Hypertension  ● Vasculopathy
Skeletal	● Scoliosis  ● Osteopenia/Osteoporosis  ● Vitamin D deficiency
Pain	● Headache/migraine  ● Tumor burden  ● MPNST  ● Glomus tumors
Neurologic	● Seizures/epilepsy  ● Neuropathy  ● Sleep disturbance
Neurocognitive/Psychiatric	● Depression/Anxiety  ● Stress  ● Reduced self-confidence  ● Learning disabilities  ● Executive functioning deficits  ● Attention deficit hyperactivity disorder  ● Cognitive impairment  ● Autism spectrum disorder
Family Planning	● Reproductive risks and options  ● Increased risk for antenatal and peripartum complications**

Notes: Adults with Neurofibromatosis type 1 (NF1) are at increased risk to have numerous medical complications requiring patient education, screening, and/or surveillance.²² *Women with NF1 have an increased risk for early-onset breast cancer. The National Comprehensive Cancer Network provides recommendations for early breast screening.⁷⁹ **Women with NF1 may be at risk for pregnancy and delivery complications.⁸⁰

Table 3 Barriers to Effective Healthcare Transition

Patient and Family Barriers
Lack of knowledge of condition and importance of medical care
Difficulty finding healthcare provider with knowledge of condition
Stress or emotional burden of condition or medical complications
Limitations in decision-making abilities or self-advocacy
Financial concerns (income, insurance coverage)
Feeling of loss of parental/caretaker role
Discomfort with parental/caretaker transfer of responsibility
Psychosocial and developmental transitions common to all adolescents and young adults
Shared Patient/Provider Barriers
Poor communication
Lack of trust
Difficulty in establishing new relationships
Cultural differences
Provider and Healthcare System Barriers
Lack of knowledge or skills in patient transition needs
Insufficient information about the condition, management, and treatment
Poor communication about the transition process
Lack of available services and coordination of care and follow up
Shortage of extended clinic slots
Poor access to support staff (nursing, care coordinators, social workers)
Consultation and communication shortcomings between pediatric and adult providers
Low reimbursement rates and lack of knowledge in transition services billing
Process of transferring medical records
Differences in pediatric vs adult care models

Note: Several potential barriers may interfere with the transition process.^{2,3,26,54,63–67}

Table 4 General Transition Tools and Resources

Tool	Access	Audience
Got Transition  Federally funded national resource center on HCT  Patient and provider information and tools available	www.gottransition.org	Patient and Provider English and Spanish
Payment for Transition Services Got Transition  Payment approaches to implement recommended HCT services, including fee-for-service coding and reimbursement options and value-based payment options	https://www.gottransition.org/six-core-elements/payment.cfm	Provider English
Transition Readiness Assessment Questionnaire (TRAQ) Wood, Sawicki, Reiss, Livingood & Kraemer (2014) East Tennessee State University  Validated tool to assess transition readiness	https://www.etsu.edu/com/pediatrics/traq/	Patient/Caregiver English, Spanish, and 8 other languages
STARx Questionnaire University of North Carolina School of Medicine  Validated tools to assess transition readiness  Three versions for pediatric patients, young adult patients, and parents	https://www.med.unc.edu/transition/transition-tools/trxansition-scale/	Patient/Caregiver English and Spanish (only English for parent version)
Healthcare Transition Research Consortium (HCTRC)  Organization supporting evidence-based HCT as a standard component of health services	https://sites.google.com/site/healthcaretransition/	Provider English

Note: Several transition tools and resources exist for patients, families, educators, and providers.

Table 5 NF1-Specific Transition Tools and Resources

Tool	Access	Audience
Just for Teens: Living with NF1 Children’s Tumor Foundation	https://www.ctf.org/images/uploads/resources/NF-Just-For-Teens_Living-with-NF.pdf	Patient English and Spanish
Living with Neurofibromatosis: A Guide for Teens and Young Adults Children’s Hospital St. Louis, Washington University in St. Louis	https://nfcenter.wustl.edu/wp-content/uploads/2011/06/living-with-NF-clean.pdf	Patient English
Transitioning to Adulthood: A Guide for Individuals with NF1 Children’s Hospital St. Louis, Washington University in St. Louis	https://nfcenter.wustl.edu/wp-content/uploads/2011/06/Transitioning-to-Adulthood-Brochure.pdf	Patient English
Talking about Neurofibromatosis: A Guide for Teens Children’s Hospital St. Louis, Washington University in St. Louis	https://nfcenter.wustl.edu/wp-content/uploads/2010/10/SLC6906_NeurofibromatosisTeenBrochureR1.pdf	Patient English
The Guide for NF Patients and Caregivers Transitioning (PACT) to Adult Care NF Collective	https://nfcollective.org/uploads/general/Transitioning_to_Adult_Care_1-19b.pdf	Patient English
Living with Neurofibromatosis type 1: A Guide for Adults Children’s Tumor Foundation	https://www.ctf.org/images/uploads/documents/CTF-Adults_with_NF_Brochure_2022.v10_FINAL_.pdf	Patient English and Spanish
Living with Neurofibromatosis type 1: A Guide for Adults Children’s Hospital St. Louis, Washington University in St. Louis	https://nfcenter.wustl.edu/wp-content/uploads/2012/04/Adult-NF-Brochure.pdf	Patient English
Telling People you have Neurofibromatosis Type 1 Children’s Hospital St. Louis, Washington University in St. Louis	https://nfcenter.wustl.edu/wp-content/uploads/2011/10/Disclosure-Brochure.pdf	Patient English
Preparing for Your Clinic Visit Children’s Tumor Foundation	https://www.ctf.org/images/uploads/documents/Preparing_for_Your_Clinic_Visit.pdf	Patient English
Reproductive Options for People with NF1, NF2, and Schwannomatosis Neurofibromatosis Network	https://nfnetwork.org/data/uploads/nf1-educational-materials/reproductive-options-for-people-with-nf.pdf	Patient English
Intimacy and NF1: A Resource Exploring the Impact of NF1 on Intimacy and Relationships The University of Alabama at Birmingham	https://sites.uab.edu/nf1intimacy/	Patient English
Neurofibromatosis type 1 - Transition Readiness Assessment Questionnaire (NF1-TRAQ) A non-validated tool to assess NF1-specific components of transition readiness.^Citation24	https://pubmed.ncbi.nlm.nih.gov/32969737/	Provider English

Note: Several transition tools and resources exist for patients, families, educators, and providers.

Table 6 Support and Advocacy Organizations for Neurofibromatosis Type 1 (NF1)

Organization	Access
B The Difference, The Brandon Merritt Charitable Foundation	www.bthedifference.org
Children’s Tumor Foundation	www.ctf.org
Littlest Tumor Foundation	www.littlesttumor.org
Neurofibromatosis Midwest	www.nfmidwest.org
Neurofibromatosis Network - regional groups include:	www.nfnetwork.org
● NF Arizona/Southwest	● www.nfnetwork.org
● NF California	● www.nfcalifornia.org/
● NF Central Plains	● www.nfcentralplains.org/
● NF North Central	● www.nfnorthcentral.nfnetwork.org/
● NF Northeast	● www.nfnortheast.org
● NF Michigan	● www.nfmich.org/
NF Collective	www.nfcollective.org
NF Team Foundation	www.thenfteam.org
Texas Neurofibromatosis Foundation	www.texasnf.org

Notes: Several organizations offer information and support for individuals and families affected by NF1. Services provided may include local or regional support and activities, scholarships and funding, and fundraising for NF awareness and research.

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