Daily complaints of physical problems such as tumour growth, pain and fatigue, or the fear that these symptoms will come to dominate, can have a major impact on the lives of people with neurofibromatosis. In addition, increasing attention is being paid to mental health issues, such as fatigue, anxiety, depression, and loneliness. People living with NF themselves and their families are increasingly making their voices heard in this area. Following this introduction, four presentations will explore aspects of mental health that have been overlooked until now, such as sexuality, family needs, the burden of pain and cognition in adults.

Background:
Previous research has demonstrated that adults with Neurofibromatosis type 1 (NF1) frequently experience sexual problems. However, broader aspects of sexuality and patients’ lived experiences remain underexplored. This ongoing qualitative study explores multiple domains of sexuality among adults with NF1 to develop a more comprehensive understanding of patients’ experiences to improve the way sexuality-related concerns are addressed in clinical practice.

Methods:
Semi-structured one-to-one interviews were conducted between January-June 2026. Participants were invited to discuss the meanings, values, feelings and concerns related to sexuality. Participants were purposively recruited trough the Dutch Expertise Center for NF1 to generate rich and diverse data. Data are being analyzed based on Braun & Clarke’s Reflexive Thematic Analysis approach.

Results:
To date, eighteen adults have been interviewed and equally divided by gender (age range: 23-74 years). Preliminary findings indicate that many participants experience a sense of being different from their peers, due to both visible and invisible manifestations of NF1. This perception affects self-image and self-esteem. Participants also report challenges in initiating and maintaining social and romantic relationships. Sexual satisfaction appeared to encompass more than sexual functioning alone, with intimacy and emotional connection being described as key components of fulfilling sexual experiences. Participants also emphasized that healthcare professionals should initiate conversations about sexuality.

Conclusion:
As data collection is ongoing, these findings remain preliminary. Nevertheless, the results suggest that sexual satisfaction is an essential part of life and involves more than sexual function alone. These findings highlight the importance of proactively addressing sexuality as part of comprehensive NF1-care.

Background: The Pain Interference Index for Plexiform Neurofibromas (PII-pNF) is a 12-item, patient-reported adaptation of the Pain Interference Index used to assess the extent to which plexiform neurofibromas (PN)-related pain interferes with daily functioning in adults with neurofibromatosis type 1 (NF1). Psychometric properties of PII-pNF scores were evaluated using KOMET (NCT04924608) data.
Methods: KOMET participants with NF1-PN (N=145) completed PII-pNF at baseline and Cycles (Cs) 1, 2, 4, 6, 8, 10, and 12. Cross-sectional and longitudinal psychometric properties were evaluated. Meaningful within-patient improvement (MWPI) was estimated using Patient Global Impression of Severity (PGIS) and EuroQol 5-Dimension 5-Level (EQ-5D-5L) usual activities as anchors.
Results: Most participants (87.3%) had no missing mandatory PII-pNF items (baseline–C12). Internal consistency reliability was excellent (Cronbach’s alpha coefficient: 0.97 [baseline]). PII-pNF-total scores had adequate-to-excellent test–retest reliability (intraclass correlation coefficients: 0.75–0.82 [baseline–C1]; 0.90–0.91 [C10–C12]). Higher PN-related pain interference was associated with higher severity of chronic pain (PGIS) and overall pain/discomfort (EQ-5D-5L; p<0.0001). PII-pNF-total scores demonstrated good ability to capture improvement (baseline–C12) with PGIS and EQ-5D-5L. Medium-to-large effect sizes for PII-pNF-scores were reported for participants with improvement in PGIS (chronic-pain: –0.87; spike-pain: –0.65) and EQ-5D-5L usual activities (–1.39). PII-pNF-total score distribution of change (baseline–C12) across PGIS and EQ-5D-5L was consistent with 1-point definition of MWPI.
Conclusion: Psychometric analysis of PII-pNF using KOMET data supports its reliability, validity, and sensitivity to change in adults with NF1-PN. A 1-point decrease in PII-pNF-total score was identified as a suitable estimate for MWPI.

Background:
Families of children and adolescents with Neurofibromatosis (NF) face complex medical, psychological, and social challenges, requiring a biopsychosocial and family-centered approach to care. Previous studies have shown that families of children and adolescents with Neurofibromatosis (NF) face substantial social challenges, as financial strain, and impacts on parental employment and work participation. The aim of this pilot study was to identify the social needs of affected families.
Methods:
In a pilot study conducted at the Department of Pediatrics and Adolescent Medicine of the Medical University of Vienna, documentation of clinical social work consultations in 41 families was retrospectively analysed (04/2025-09/2025). The analysis focused on identifying aspects of the social dimension being addressed during the consultation process and the consecutive social work interventions. Data were analysed according to the Social Dimension Model proposed by Krottendorfer (2026). Descriptive clinical data was evaluated to contextualise the findings.
Results:
The most frequently addressed topics within the social dimension were related to the socioeconomic domain, including finances (80.5%), work and employment (51.2%), housing (14%), residence status (7.3%), and insurance (2.4%). Within the socioecological domain, housing environment (7.3%) and mobility (9.8%) were commonly discussed. In the cultural domain, language-related issues accounted for 4.9%. Social support and social networks were addressed in 43.9%.
Conclusion:
The findings highlight the importance of integrating social work services into interdisciplinary care for families affected by NF. Clinical social work is key in identifying social needs, facilitating access to social benefits and support services, and addressing social determinants of health.

Background: Neurofibromatosis type 1 is associated with cognitive difficulties affecting attention, executive function, memory, visuospatial abilities and processing speed. Although well described in children, adult cognition remains less defined, particularly in individuals without neurological or psychiatric conditions that may confound performance. This study characterized cognition in adults with neurofibromatosis type 1 and its relationship with psychological and clinical variables.

Methods: We conducted a cross-sectional study of 87 adults with neurofibromatosis type 1 without intellectual disability or previous cognitive or psychiatric disorders. Participants underwent standardized neuropsychological assessment across seven domains: visual memory, verbal memory, executive function, attention, visuospatial ability, working memory and visuomotor speed. Psychological, clinical and sociodemographic variables were assessed. Scores were standardized using age-adjusted normative Z-scores.

Results: Adults with neurofibromatosis type 1 performed below the normative mean across several domains. Executive function showed clinically significant impairment (z = -2.267), while attention showed low-average performance (z = -1.171). Higher education was associated with better global cognition (ρ = 0.308, p = 0.004). Poorer attention was associated with greater skin severity (ρ = -0.214, p = 0.048), and poorer visuospatial ability with higher depressive symptoms (ρ = -0.251, p = 0.020), although these associations did not remain significant after correction for multiple comparisons.

Conclusion: Adults with neurofibromatosis type 1 show cognitive vulnerability mainly affecting executive function and attention. Education suggests a role for cognitive reserve, while skin severity and depressive symptoms relate to specific domains, supporting routine assessment and tailored cognitive, educational and psychosocial support.