ASSESSMENT OF QOL IN PATIENTS WITH NEUROFIBROMATOSIS 1

We carried out a cross-sectional study to evaluate the impact of NF1 on QoL in an Italian cohort.
Recruitment took place in a single Italian Centre, the Dermatological and Neurofibromatosis out-patients
Clinic of the University of Rome “La Sapienza”. From February 2005 to September 2005, 129 patients with
NF1 were enrolled.
In conclusion
For all domains of SF-36 profile, patients with NF1 had lower scores than the control sample

QoL was measured using the SF-36, a general health questionnaire, and the Skindex, a specific QoL
questionnaire designed to assess the QoL in patients with skin diseases. For the clinical assessment, the
Ricciardi and Ablon scales were used to evaluate the severity of the disease and the physical disfigurements.
The Ricciardi scale evaluates the severity of the diseases on a scale from 1 to 4. Briefly, grade 1, or minimal
NF1, means the presence of few features of NF1; grade 2, or mild NF1, indicates obvious but not health-
threatening features. In grade 3, or moderate NF1, there is an equilibrium between health and well-being, but
it is still manageable. Grade 4, or severe NF1, indicates health and well-being “seriously” compromised in a
permanent and “unmanageable way”. The Ablon scale evaluates the appearance of the disease ratings the
appearance of the person fully dressed from mild (grade 1) to severe (grade 3).

Statistical analysis
Scaled scores of participants in different clinical groups were compared using Wilcoxon test and variance
analysis. Frequency distribution, tabulation, stratified analysis and multiple linear regression controlling for
sex, age, severity and appearance were performed with STATA and EPI-INFO software.

Results
The SF-36 results of the 129 patients with NF1 were compared to those of an healthy sample of 2031
subjects representative of the general population. For all domains of SF-36 profile, patients with NF1 had
lower scores than the control sample (Table 4.1.1).
Table 4.1.1 Quality of life of adult patients measured with SF-36 compared with a normative sample
representative of the Italian population.

NF1 Patients Health Sample

P
(n=129) (n=2031)
Physical function 79.2± 25.9 84.4±23.9 0.03
Role-physical 75.1± 33.9 77.9±36.1 0.20
Bodily pain 69.1±27.3 73.7±27.2 0.03
General health perception 57.5±19.2 65.9±22.2 0.00
Vitality 60.3±20.2 61.8±20.8 0.15
Social functioning 68.6±26.4 77.1±23.5 0.00
Role-emotional 61.6±39.7 75.7±23.5 0.00
Mental Health 64.4±20.8 66.7±20.9 0.1

The Skindex quality of life questionnaire confirmed that NF1 has an impact in all aspects of Skin-disease-
specific QoL, with the emotional aspect being the most affected (Figure 4.1.1).

Figure 4.1.1 Skindex quality of life scores for patients with NF1
Male
40
Female

30
mean score

20

10

0
Emotions Physical symtoms Functioning

Patients with more visible NF1, accordingly to the Ablon Index, reported more effects on their skin-disease-
specific QoL (Table 4.1.2)

Table 4.1.2 Visibility Measured with Ablon Index and Skindex in Patients with NF1

Ablon Index
Skindex Characteristic Grade I Grade 2 Grade 3
P
(n=38) (n=52) (n=27)
Emotions 15.6±12.9 32.6±19.6 39.5±23.2 0.000
Physical Symptoms 10.5±12.2 21.8±17.7 23.8±21.3 0.001
Functioning 7.5±10.6 17.7±16.3 28.4±24.8 0.0001

These findings (Table 4.1.2) suggest that Skindex-29 measures skin-disease-related aspects more specifically
and accurately than the generic measure. This ability of Skindex to measure the specific skin-disease-related
health characteristics may be particular important when a more specific tool is desired and to determinate
whether the measure might supplement the clinical assessment.
Our study showed an association between the educational level and different health domains of the SF 26
(Table 4.1.3): higher levels of education have more positive perception on QoL.

Table 4.1.3 General Health Quality of Life Measured with SF-36 and educational level

Educational level
Primary Secondary University
High School
SF-36 Characteristics school school degree P

Physical function 64.2±23.8 75.3±27.3 84.1±25.4 98.1.1±3.7 0.002

Role-physical 42.8±47.2 70.8±34.5 82.2±28.8 96.4±9.4 0.02
Bodily pain 53.1±28.9 64.7±26.9 75.6±27.0 77.8±21.2 0.04
General health perception 43.8±21.6 56.8±20.1 58.4±18.2 72.4±19.7 0.09
Vitality 46.4±15.1 60.1±21.5 61.8±19.5 66.4±16.2 0.13
Social functioning 71.5±26.6 64.8±28.4 74.0±23.5 68.7±20.0 0.47
Role-emotional 38.1±40.5 57.2±41.5 67.3±37.6 58.2±46.3 0.27
Mental Health 53.1±21.9 60.9±24.2 69.3±16.7 69.7±12.8 0.20
Mental Composite Score 40.0±9.8 43.1±12.7 45.8±10.2 42.1±11.5 0.43
Physical Composite Score 40.5±8.1 47.4±10.2 50.2±8.8 56.0±5.7 0,008