Table 3 Details of reviewed studies about neurofibromatosis type 1, according to location, sample, method design and significant outcomes
Setting | Method | Results | Study quality | ||||||
|---|---|---|---|---|---|---|---|---|---|
Ref. | Location | N | Design (strength) | Tools | Comparator(s) | IV(s) | DV(s) | Significant outcomes | |
Foji et al. [121] | Iran | 24 | Exploratory -qualitative (low) | Interview w/ evolving structure (GTM) | N/A | N/A | N/A | NF1 patients’ life & their response to failure & falling behind in life \(\approx\) ‘an unsuccessful struggle to escape’ Environmental conditions: unpleasant appearance due to spots & tumors; inability to have kids; learning disabilities; limitations daily life activities; social rejection and isolation; facing aggression form others; perception of no social support; incurability of NF1 Indivuals’ responses/coping: hiding disease from others; seeking isolation; complaining to God; refusing to receive care; hopelessness; In extreme cases: suicidal ideation, unsuccessful suicide attempts | High |
Fjermestad et al. [123] | Norway | 142 | Cross-sectional—quantitative (low) | Questionnaires (HUNT3; OGs) | 46,393 non-affected subjects (extracted from a cohort study) | Biomedical datas; Mental functioning; Health related QoL | Life satisfaction | HrQoL problems↑ in following domains: life satisfaction, mental health, sleep, pain, gastrointestnal problems, oral health, memory problems, social support (especially women) MLR model → life satisfaction: mental health, sleep, pain, memory problems, social support*** Only mental health was a unique significant predictor*** | Moderate |
Jensen et al. [115] | USA | 16 | Exploratory -qualitative (low) | Semi-structured interviews (TCA) | N/A | N/A | N/A | Chronic pain & acute episodes of localized pain; social functioning (limited activity participation, role limitation & relationship impact); mobility difficulties; internalized stigma (more external in youth) | Moderate |
Rosnau et al. [116] | USA | 49 | Cross-sectional—quantitative (low) | Questionnaires (RSES; OGs) | General population norms (Sinclair et al. 2010) | Biomedical datas; NF1 experiences | Self-esteem (SE); NF1 knowledge | ¾ of the participants had a quite good knowledge about NF1 NF1 SE↓ vs. general pop. norms*** MLR model → SE: learning problems, having friends with NF1, attending a support group & receiving genetic counseling* | High |
Bicudo et al. [119] | Brazil | 13 | Cross-sectional mixed—quali-quantitative (moderate) | Hetero-assessment scale (Ablon & Riccardi); questionnaires (WHOQOL-100) & Semi-structured interviews (TCA) | 39 non-affected subjects | NF1 severity & visibility | Quality of Life | No significant impact of NF1 on QoL Difficulties: pain; concern about the future; shame; discomfort; awkwardness; hiding body; concern about genetic counseling; limited job opportunity & professional life; NF1 as a curiosity for strangers; confusion from strangers with contagious diseases; social prejudices; inappropriate healthcare; lack of information Coping: spirituality/religion/beliefs; relativizing NF1; social support (e.g. family); resection of pNF | Moderate |
Crawford et al. [122] | Australia | 60 | Exploratory -qualitative (low) | Interview w/ evolving structure (GTM) | N/A | N/A | N/A | Cosmetic disfigurement as a burden; social discomfort & awkwardness; difficulty in finding partners; lack of awareness and knowledge of NF1 in society; learning and/or attention difficulties in childhood; affected aspirations & self-esteem; genetic inheritance concerns; unpredictable disease progression; pain | High |
Barke et al. [117] | England | 9 | Exploratory -qualitative (low) | Semi-structured interviews (TCA) | N/A | N/A | N/A | NF1 impacts differs a lot (severity & visibility); social discomfort & awkwardness; social support (family, friends, online support group); adolescence as a period of learning & awareness about NF1; NF1 poorly understood (medical community, medias); unpredictable disease progression | Moderate |
Hummelvoll & Antonsen [120] | Norway | 15 | Exploratory -qualitative (low) | Semi-structured interviews (TCA +) | N/A | N/A | N/A | Pain (sleep disturbance, fatigue); movement & mobility difficulties; anxio-depressive symptoms; the importance of family background and relations; the role of friendships; low self-confidence; dealing with NF1 visibility; unpredictable disease progression; personal/cognitive aspects mediates the impact of NF1 | High |
Smith et al. [126] | USA | 127 ♀ | Cross-sectional—quantitative (moderate) | Questionnaires (DAS59; RSES; UCLA Loneliness Scale) | 48 NF2 ♀ + General population & Breast Cancer Survivors’ (BCS) norms (extracted from other studies) | Appearance distress / self-consciousness | Self-esteem (SE); Loneliness | NF1 women reported more psychosocial reasons for disliking their feature vs. NF2 women* NF1 sexual / bodily self-consciousness↑ vs. general pop norms* and BCS*** NF1 social self-consciousness↑ vs. general pop norms and BCS*** NF1 sexual / bodily self-consciousness↑ ↔ SE↓*** NF1 social self-consciousness of appearance↑ ↔ SE↓***; loneliness↑** | High |
Granström et al. [127] | Germany | 228 | Cross-sectional—quantitative (low) | Hetero-assessment scale (Riccardi); Questionnaires (DLQI; Distress Thermometer; FBeK; OGs) | 2047 non-affected subjects + 105 psoriasis subjects (extracted from other studies) | Biomedical datas; NF1 severity & visibility; Body Image | Depressive statement; Psychological distress; Health-related QoL | NF1 visibility↑ ↔ depressive state↑**, frequency of a lifetime depression diagnosis↑**, psychosocial distress↑***, QoL impairment↑*** and body experience↓*** NF1 patients’ feelings: insecure and uneasy with their own bodies↑***, attractive and self-confident↓*** vs. healthy pop NF1 visibility effect on depressive state was completely mediated by NF1 patients’ body experience***; partially on psychological distress*** and QoL impairment** | High |
Dheensa & Williams [112] | England | 6 | Exploratory -qualitative (low) | In-depth semi-structured interviews (IPA) | N/A | N/A | N/A | Lack of information about NF1 (no further explanations; loss faith & trust in medical professions); feeling judged (social self-consciousness aroused; isolation/solitude); social comparisons; variety of coping methods; unpredictable disease progression; some positive appraisal | Low |
Kodra et al. [125] | Italia | 129 | Cross-sectional—quantitative (low) | Hetero-assessment scale (Ablon) & Questionnaires (SF-36; Skindex-29) | N/A | NF1 visibility | General & skin-disease-specific QoL | NF1♀ impact on emotions↑** and physical↑*** symptoms vs. for NF1♂ NF1 visibility↑ independently ↔ skin-disease-specific QoL following aspects: emotions↓***, physical symptoms↓* and functioning↓*** | Moderate |
Page et al. [124] | USA | 169 | Cross-sectional—quantitative (low) | Hetero-assessment scale (Ablon & Riccardi); Questionnaires (SF-36; Skindex-29) | 154 non-affected U.S. subjects (extracted from another study) | NF1 severity & visibility | General & skin-disease-specific QoL | NF1 visibility↑ independently → skin-disease-specific QoL following aspects: emotions↓ (♀ especially)**, symptoms↓* & functioning↓*** NF1 severity↑ independently → skin-disease-specific QoL following aspects: symptoms↓*, function↓* NF1 patients general health QoL↓ vs. normative pop* NF1 severity↑ independently → general health QoL↓ (physical function, bodily pain, general health perception, vitality, role emotional, mental health, social functioning, role physical, physical symptoms)** | Moderate |
Wolkenstein et al. [118] | France | 128 | Cross-sectional—quantitative (low) | Hetero-assessment scale (Ablon & Riccardi); Questionnaires (SF-36; Skindex-29) | 3656 subjects representative of the French population (extracted from another study) | NF1 severity & visibility | General & skin-disease-specific QoL | NF1 impact on emotions↑*** & physical symptoms↑** for ♀ vs. ♂ NF1 visibility↑ independently → skin-disease-specific QoL following aspects: emotions↓*, symptoms↓** & functioning↓** Each aspect of NF1 general health QoL↓ vs. normative pop NF1 severity independently → 4 aspects of general health QoL: physical function**, bodily pain*, general health perception**, vitality* NF1 visibility independently → 4 aspects of general health QoL: physical function**, social functioning*, role-emotional*, mental health* | Moderate |
Zöller & Rembeck [114] | Sweden | 70 (1978) → 37 (1990) | Longitudinal study—quantitative (12 years follow-up) (moderate) | Medical & psychiatric interviews (CPRS); Questionnaires (KSP; SES) | 27 non-affected subjects | NF1 severity (quantity & location of neurofibromas) | Psychiatric characteristics; Personality profile; Self-concept | NF1 patients: mood disorders↑ (depression, dysthymia) vs. non-affected subjects*** NF1 patients: sleep↓*; social phobias↑*; worries about trifles↑** vs. non-affected subjects NF1 patients w/o psychiatric diagnosis: self-evaluation & socialization↑*; aggressivity↓***; irritability↓** vs. non-affected subjects No further difference between 1978 & 1990 | Moderate |
Ablon [113] | USA | 28 | Exploratory -qualitative (low) | One question-based interviews | N/A | Gender | Life experiences | ♀ ≠ ♂: internalized cosmetic norms & body concerns; parenting prevail over gender; fears of rejection harder for ♀: genetic inheritance concerns; more binding appearance norms harder for ♂: compromised manliness; employability & professional life; represses their feelings; tend to withdraw from social life & avoid romantic situations (unlike women) | Low |