Table 1.
Characteristics of participants and results of standardized and specific questionnaires at inclusion (n = 490).
| Mother | Father | Adult patient | |||
|---|---|---|---|---|---|
| SOCIAL and DEMOGRAPHIC INFORMATION | n = 294 | n = 180 | n = 16 | ||
| Age (Median) | 42 ± 10 years | 43 ± 11 years | 28 ± 13 | ||
| Diploma | No diploma | 18/276 (7%) | 8/165 (5%) | 4/14 (29%) | |
| Below the high school diploma | 88/276 (32%) | 60/165 (36%) | 8/14 (57%) | ||
| High school diploma | 50/276 (18%) | 27/165 (16%) | 1/14 (7%) | ||
| Bachelor’s degree | 120/276 (43%) | 70/165 (43%) | 1/14 (7%) | ||
| Job | Working | Farmers | 3/187 (1.6%) | 6/143 (4.2%) | 0/6 |
| Laborers | 9/187 (4.8%) | 35/143 (24.5%) | 0/8 | ||
| Employees | 104/187 (55.6%) | 39/143 (27.3%) | 4/6 (66%) | ||
| Intermediate professions | 20/187 (10.7%) | 13/143 (9.1%) | 1/6 (17%) | ||
| Independent professions | 7/187 (3.7%) | 18/143 (12.6%) | 0/6 | ||
| Managers and higher intellectual professions | 44/187 (23.5%) | 32/143 (22.4%) | 1/6 (17%) | ||
| Total | 187/294 (66%) | 143/168 (85%) | 6/14 (43%) | ||
| Not working | Personal choice not to work | 66/87 (76%) | 8/25 (32%) | 7/8 (88%) | |
| Unemployed | 9/87 (10.3%) | 8/25 (32%) | 0 | ||
| Retired | 12/87 (13.8%) | 9/25 (36%) | 0 | ||
| Total | 95/294 (34%) (ND = 8) | 25/168 (15%) | 8/14 (57%) | ||
| STANDARDIZED SCALES | |||||
| Epices score (number and % of respondents with a score above 30)a | Single: 29/50 (58.0%) | Single: 5/17 (29.4%) | 6/16 (37.5%) | ||
| In couple: 62/245 (25.3%) | |||||
| SF12 (0–100) (Median (Minimum-Maximum))b | Physical scale | 53 (23–66) | 55 (18–67) | 46 (31–61) | |
| Mental scale | 43 (24–71) | 47 (25–73) | 45 (30–56) | ||
| CES-D (score above 23 for mothers and 17 for fathers)c | 42/258 (16.3%) | 18/158 (11.4%) | 5/17 (29.4%) | ||
| STAI-Y (score above 46)d | Condition scale | 69/253 (27.3%) | 23/155 (14.8%) | 2/17 (11.8%) | |
| Trait scale | 79/253 (31.2%) | 26/155 (16.7%) | 8/16 (50.0%) | ||
| SPECIFIC QUESTIONNAIRES | |||||
| Assistance in making decisions about accessing to SF (multiple choice) | Geneticist | 171/294 (58%) | 99/180 (55%) | 5/18 (28%) | |
| Alone | 96/294 (33%) | 63/180 (35%) | 12/18 (67%) | ||
| Partner or family | 47/294 (16%) | 35/180 (19%) | 3/18 (17%) | ||
| Expectations (multiple choice) | Access to preventive measures | 199/250 (79.6%) | 120/160 (75.0%) | 9/14 (64.3%) | |
| Prevent possible risks | 181/250 (72.4%) | 119/160 (74.4%) | 11/14 (78.6%) | ||
| Be better anticipate the future | 198/250 (79.2%) | 117/160 (73.1%) | 11/14 (78.6%) | ||
| Improve personal health status or that of their child | 189/250 (75.6%) | 127/160 (79.4%) | 9/14 (64.3%) | ||
| Have access to treatment | 125/250 (50.0%) | 74/160 (46.3%) | 8/14 (57.1%) | ||
| Adapt a treatment | 115/250 (46.0%) | 80/160 (50.0%) | 4/14 (28.6%) | ||
| Report of SF for conditions with no treatment or preventive options (hypothetic situation) | In favor | 105/294 (35.7%) | 77/180 (42.8%) | 6/18 (33.3%) | |
| Not in favor | 108/294 (36.7%) | 53/180 (29.4%) | 11/18 (61.1%) | ||
| No opinion | 81/294 (27.6%) | 50/180 (27.8%) | 1/18 (5.6%) | ||
| Report of SF with uncertain status (hypothetic situation) | In favor | 110/294 (37.8%) | 81/179 (45.3%) | 5/18 (27.8%) | |
| Not in favor | 93/294 (32.0%) | 48/179 (26.8%) | 12/18 (66.7%) | ||
| No opinion | 88/294 (30.2%) | 50/179 (27.9%) | 1/18 (5.6%) | ||
aThe EPICES Score: The EPICES score (Evaluation de la Précarité et des Inégalités de santé dans les Centres d’Examens de Santé) is an individual indicator of precariousness for a single parent or an indicator per household. This self-administered questionnaire of 42 questions takes into account several dimensions of precariousness: employment, income, level of education, socio-professional categories, housing, family composition, social ties, financial difficulties, life events, perceived health. Statistical methods of factorial correspondence analysis and multiple regression were used to select 11 questions from the 42 questions that summarize 90% of a subject’s precariousness. The answer to each question is assigned a coefficient, and the sum of the 11 answers gives the EPICES score. The score is continuous, varyinf from 0 (not precarious) to 100 (maximum precariousness). The threshold of 30 is considered as the threshold of precariousness according to EPICES, the higher it is, the greater the precariousness. The reference study by Sass et al. [41] was used.
bThe Short Form 12 or SF-12: The SF-12 is a self-assessment scale for quality of life, a complex concept to evaluate since it is characterized by its multi-dimensionality (physical, functional, emotional, spiritual and social well-being) and by subjectivity (it can only be correctly understood from the patient’s perspective). Designed for clinical research, the SF-12 is recognized as a practical and reliable alternative to the SF-36 in the nine European countries where it has been analyzed (Denmark, France, Germany, Italy, Netherlands, Norway, Spain, Sweden and the United Kingdom). It provides two scores: a mental quality of life score and a physical quality of life score and includes 12 items, divided into the same 8 dimensions as the SF-36: Physical activity; Life and relationships with others; Physical pain; Perceived health; Vitality; Limitations due to mental state; Limitations due to physical state; Psychological health. The maximum score is 100, the higher the score, the better the quality of life. In reference to Gandek et al. [23], the average reference score for the French population are 59.2 for the average SF-12 Physical score and 48.4 for the average SF-12 Mental score. In the 45-64 age group, the mean SF-12 Physical score was 49.4 and the mean SF-12 Mental score was 48.6. When the calculated scores of the parents are lower than these average reference scores, it means that the parents surveyed feel poorer physical and/or mental health than the average French person, and the opposite is true when their calculated scores are higher.
cCES-D: The Center for Epidemiologic Studies-Depression Scale (CES-D) by Radloff (1977) is a self-evaluation tool developed by the Center for Epidemiological Studies (CES) of the National Institute of Mental Health (NIMH), based on several validated depression scales. It was developed for use in epidemiological studies of depressive symptomatology in the general population. The French version by Fuhrer and Rouillon [42] validated by Morin and colleagues (2011) was used. This questionnaire consists of 20 items, which can be grouped into four distinct subscales: depressed mood, positive affect, somatic complaints, and interpersonal relationships. The CES-D score is the sum of all these scores and ranges from 0 to 60. The higher the score, the greater the depressive symptomatology. Based on the work done by Fuhrer and Rouillon [42], the proposed threshold is 17 for men and 23 for women. Beyond these thresholds, depressive symptomatology is considered significant.
dSTAI-Y: The State-Trait Anxiety Inventory (STAI) or Spielberg’s Form Y State-Trait Anxiety Inventory (1993) is a self-report tool for anxiety composed of two distinct scales aimed at evaluating the psychological aspects of state anxiety (STAI Y-A) and trait anxiety (STAI Y-B). The first refers to a temporary emotional state linked to a particular situation or moment and likely to appear in any individual, whereas the second refers to a more permanent or even pathological personality trait linked to the person. Each of these two scales consists of 20 items. The respondents used a 4-point Likert scale (1 to 4). The scores are therefore between 20 and 80, with higher scores indicating a higher level of anxiety. Anxiety is considered very high when it is higher than 65; high from 56 to 65; medium from 46 to 55; low from 36 to 45 and very low when it is lower or equal to 35. The French version by Bruchon-Schweitzer and Paulhan (Spielberger et al. [21],) was used in this study.