ASSESSMENT OF QOL IN PATIENTS WITH PRADER WILLY SYNDROME

Transcription

1 ASSESSMENT OF QOL IN PATIENTS WITH PRADER WILLY SYNDROME Aiming at investigating the relationship between QoL and clinical picture in patients with PWS, we conducted a multicentric study with prospective gathering of data and 40 consecutive patients. All patients were enrolled in specialized Italian Centres where the diagnosis were performed. The diagnosis were based on genetic tests evaluating 15q11-13 chromosomal region and on the clinical criteria established by a consensus of experts (Holm et al., 1993). To evaluate QoL we used the Short Form-36 (SF-36) and the Child Health Questionnaire-Parent Form 50 (CHQ-PF50) accordingly to the patient s age. Statistical analysis Statistical analysis was performed using the STAT-SOFT (OK, USA) package. Non-parametric analysis of the correlation was assessed by Spearman s rank correlation coefficient. Group comparisons were assessed by the Mann-Whitney U Test. To compare the SF-36 and the CHQ-PF50 scores to mean values of SF-36 and CHQ-PF50 for the normal Italian population, the one sample T-Test was used. Results QoL assessment and clinical findings in patients older than 14 Regarding the correlation between the QoL assessment and clinical findings in patients older than 14 years, we observed that: QoL is intensely impaired in both, mental and physical aspects. Only the sub-score VT (vitality) shows no statistical difference if compared to VT of the Italian population matched per age (Table 4.2.1). Table The QoL of patients older than 14 years, as assessed by the SF-36, and the comparison with the Italian healthy subjects population. PF RF BP GH VT SF RE MH PWS patients 67,37 (26,19) 62,94 (39,12) 63,25 (33,71) 57,4 (18,27) 66,15 (23,47) 70,25 (30,06) 51,83 (41,63) 60,9 (21,44) Italian norms 94,75 (13,18) 90,22 (25,19) 81,39 (24,62) 75,78 (16,14) 67,75 (16,80) 81,58 (19,34) 85,39 (29,49) 72,72 (16,97)

2 p value <0,0001 <0,0001 0,004 <0,0001 NS 0,01 <0,0001 0,003 the physical aspects of QoL are mainly influenced by weight; the higher the weight, the worse the QoL regarding the physical aspects (Figure 4.2.1). Figure Correlation between Physical Composite Score (PCS) and weight 60 Correlation between PCS and weight at the observation PCS Weight at the observation (Kg) mental aspects are negatively and mainly influenced by the presence of characteristic facial features and positively influenced by the birth weight: the higher the weight at birth the lower the impairment of QoL due to mental aspects (Figure 4.2.2). 65 MCS in patients with and without characteristic facial features Figure Mental Composite 60 Score (MCS) in patients with and 55 without characteristic facial 50 features MCS Characteristic facial features Media ±ES ±DS

3 A possible explanation is that patients with a higher birth weight have less probability to develop those phenotypic characteristics which mainly cause an involvement of mental aspects of QoL. Indeed, if we compare patients with and without characteristic facial features, the second ones have a higher birth weight although no statistically significant differences appear. However, we are not able to explain if the birth weight influences the development of some pathogenic phenotypic aspects and related emotional problems or if the birth weight is a phenotypic aspect which is influenced, as the facial phenotype, by genetic factors or by mother s alimentation. This topic should be evaluated in the further studies in order to improve the impact of the pathology on mental aspects of QoL but also on QoL in general; indeed our data showed that patients with higher birth weight have a better GH. QoL assessment and clinical findings in patients 14 years old or younger Also in the sample of patients who were 14 years old or younger, QoL, assessed by CHQ-50, was impaired in both physical and mental aspects. In this sample of patients, Bodily Pain (BP) and Family Cohesion (FC) had no statistically significant differences when compared to the same scores of the Italian norms. In other words, PW patients do not experience limitations due to pain (Table 4.2.2). It is interesting to observe that the subscore BP is impaired in patients older than 14 years and it is not impaired in patients who were 14 years old or younger. A possible explanation might be that the CHQ-PF50 questionnaire is filled in by parents and they might have some difficulties in evaluating an extremely personal sensation like pain. As expected, also the parental QoL is impaired. A PW patient influences parents time, emotional life and every day activities (the sub-scores Parental Time - PT, Parental Emotional - PE and Family Activity - FA are impaired), but FC is not influenced.

4 Table The QoL of patients younger then 14 years, as assessed by CHQ-50, and the comparison with the Italian healthy subjects population. PW patients Italian norms p value GGH PF 62.2 (29.1) 66.4 (34.1) 85.4 (16.1) 96.7 (11.9) REB 62.3 (34.7) 95.8 (15.0) RP BP BE GBE MH SE GH CH PE PT 77.8 (32.3) 82.2 (21.7) 49.7 (22.5) 51.3 (35.6) 58.9 (25.6) 65.3 (15.9) 66.7 (15.5) 3.9 (1.3) (25.7) 77.8 (27.8) 95.3 ( (17.0) 81.2 (14.3) 80.1 (18.6) 74.9 (15.8) 78.0 (16.4) 78.5 (13.9) 59.7 (18.3) 76.5 (24.2) 92.1 (17.9) NS FA 72.3 (33.9) 91.8 (13.1) FC PHS PSS 71.7 (35.3) 45.3 (12.1) 37.4 (10.6) 73.2 (22.2) 54.5 (4.3) 51.2 (7.7) NS

5 In conclusion: Physical and mental aspects of quality of life are impaired in Prader-Willi patients; Weight is the clinical finding which primarily and negatively influences the physical aspects of quality of life; Mental problems are mainly due to the presence of characteristic facial features; Parental QoL is impaired