Influence of learning disabilities on the tumour predisposition syndrome NF1--survey from adult patients' perspective

Abstract

Aim: To analyze psychosocial burdens associated with neurofibromatosis type-1 (NF1) phenotype--visible symptoms, medical complications, learning disabilities (LD)--from patients' perspective with focus on LD.

Patients and methods: A survey of 228 adult patients with NF1 was carried-out. Symptoms to estimate disease severity and visibility, and learning disability were assessed. Outcome parameters were social situation and psychosocial aspects.

Results: Social situation and psychosocial aspects differed depending on NF1 phenotype. Patients with LD (n=55) were less frequently in a partnership (p=0.005) or had children (p=0.015) than those without (n=132). They also reported a higher frequency of depression (p=0.019) and sensitivity to stress (p<0.001) and more uncertainty regarding NF1-associated symptoms. These differences were significant when adjusting for disease severity and self-perceived disease visibility.

Conclusion: Beside the psychosocial needs of patients with LD with NF1, medical management of this sub-group should include doctor-patient communication in easy language to compensate for patients' lack of knowledge about symptoms associated with cancer.

Keywords: Neurofibromatosis type-1; adult; cancer; disease severity; learning disability; phenotype; psychosocial aspects; survey; tumour predisposition syndrome; visibility.