Table 4.

Improving clinical practice: Addressing health‐care needs during NF1 consultation

Care needs	Screen patient for	Provide
Follow‐up by NF1‐experts	Complexity and comorbidity. Local network of health‐care providers.	Easily accessible NF1 expert. Multidisciplinary NF1 expertise center for periodic screening of children, adolescents, and adults. Close communication between GP, care professionals, and NF1‐experts.
Information and education on tumor phenotype and prognosis	Tumor phenotype according to current guidelines, including tumor growth, pain, loss of function. Knowledge of tumor‐related symptoms, prognosis.	Regular monitoring of tumor‐related symptoms. Patient information and education. Referral to patient association, websites, and brochures.
Other physical symptoms	Fatigue, sleeping problems, headache, medication side effects. Somatic comorbidity.	Exclude tumor growth; identify appropriate care in collaboration with GP. Inform about NF1‐related complaints. Psychomotor therapies. (Neuro)psychological evaluation and treatment.
Mental health problems	Worries, social problems, isolation, feelings of loneliness, depressive symptoms including suicidal thoughts, ADHD, ASD.	Referral to community support by GP. (Neuro‐)psychological and psychiatric evaluation and treatment, peer groups, social worker.a
Social participation Economic participation Daily life	Involvement of friends and family, social activities, romantic relationships, support network. Suitable work or daytime occupation. Independence, needs for assistance, financial space. Planning and organizing daily life, self‐care, chores.	Evaluation of social and occupational skills. Social worker.a Information and advice for employers, insurance companies, and social services. Occupational medicine, occupational therapy.
Family planning	Knowledge of birth control methods, inheritance, family planning options, preconception consultation.	Inform GP, refer to clinical geneticist, gynecologist, psychologist.
Need for information, education, and support for patients, parents, siblings, partners, GP's, employers, and network	Knowledge of symptoms, care infrastructure, prognosis.	Accessibility for consultation. Patient education. Care guidelines for GP. Information brochures for friends/family, teachers, employers. Communication during transitional phase. Information or guidelines for care providers, periodic letters with advice.
Reduction parental stress, especially in parents of young adults	Screen both parent/caregiver and patient, if necessary in separate consultations.	Address parental concerns. Increase support for patient in daily life to alleviate parental responsibilities. Support for parent through GP, social services or psychologist.
Continuity of care during transitional period	Screen for all care domains starting at age 14.	Close communication between NF1 HCP, GP, and social worker until appropriate work, living, and medical care arrangements are in place.

^aSocial worker is used here, but may be substituted or supported by ambulatory help, informed volunteers or other local care where available.