Promoting healthy behaviour in Turner syndrome—the challenge begins in childhood

Scanning the list of contents for this month's edition of Acta, one might be forgiven for asking what a paper entitled ‘Health Behaviour of women with Turner Syndrome’ is doing in a paediatric journal.1 But a reading of the abstract of this paper should dismiss any doubts. The focus of the Swiss group of Santi et al. is on reducing the risk of cardiovascular problems to which women with Turner syndrome are susceptible so that a healthy lifestyle is even more important for this group than for the general population. And what better time is there than the early years for developing a healthy lifestyle? Among the threats to health in Turner syndrome, the spectre of cardiovascular disease is the most formidable.2 Congenital malformations such as coarctation and bicuspid aortic valve constitute risk factors for future aortic dilatation and dissection. Atheroma may begin during childhood and adolescence, as it may for the general population, but girls with Turner syndrome are also prone to hypertension and aortic root dilatation during this phase of life. In adulthood, the prevalence of aortic dissection is higher than in the general population and occurs earlier, at around 29– 35 years.2 Coronary artery disease also occurs more frequently and earlier in women with Turner syndrome. As a result of these factors, the risk of death from cardiovascular disease is three times higher for women with Turner syndrome than in the general population.2 Clearly, any strategy which will reduce cardiac risk in Turner syndrome is highly desirable. What, therefore, are we to make of Santi et al.’s work in reflecting the current health status in a sample of adults with Turner syndrome? How does their experience guide future research; and how can their findings inform management in childhood? The study is based on a postal questionnaire which the authors sent to 79 women with Turner syndrome who were aged 18 years or more and living in Switzerland. The women were asked questions about smoking and alcohol consumption. In the section concerned with alcohol, they were asked how many drinks (10 grams of pure ethanol per drink) they consumed daily or weekly, and also how often during the previous year they estimated that they had consumed more than six drinks on one occasion— a criterion for binge drinking. There were also questions about exercise: the women were asked about whether they regarded themselves as physically fit and active and whether they participated in sporting, gymnastic or other physical activities. Regarding less intense activity such as walking and leisurely bicycling, the questionnaire demanded an estimation of the number of days per week and the number of hours per day that such activity was undergone. Only 45 of the 79 women completed the questionnaire, a response rate of 57%. This contrasted with a much better rate among the comparison group, composed of 2,134 women from the general Swiss population aged 18– 33 years, of whom 1,972 (92%) responded. The results from the responders with Turner syndrome were cautiously encouraging— they smoked less, consumed no more alcohol and binge drank less than the comparison group. However, while the Turner group were as physically active as their peers, only 11 of the 45 met the official Swiss guidelines of at least 75 minutes of vigorous physical activity and 150 minutes or more leisurely activity per week. Given the increased cardiovascular risk in Turner syndrome, combined with a higher prevalence of overweight beginning in childhood,2 it is clearly desirable to enhance physical activity to above that of the general population. The authors conclude that, to reduce the risk of heart problems in Turner syndrome, paediatricians should promote structured physical activity during early childhood and that adult guidelines should include personalised recommendations for physical activity aimed at achieving a healthy lifestyle. The availability of data from the general population in Switzerland is enviable. Santi's group are to be congratulated on their persistent and painstaking efforts, and their recommendations are sensible and important. However, their study design, with its reliance on a postal questionnaire, has proved problematic, and so different strategies for future work should be considered. The disappointing response rate encountered was not for want of trying: the questionnaire was sent out twice and nonresponders received a followup telephone call. Our experience in a study in Scotland was even less successful, with only 35% of patients aged ≥16 years returning a postal questionnaire on otological problems in Turner syndrome.3 Incomplete questionnaire responses raise the concern of nonresponse bias as described by Scott Grosse and colleagues.4 Although participants and nonresponders with Turner syndrome in Santi et al.’s study are reported as being comparable in terms of age, language spoken, region occupied and growth/ treatment parameters, other factors such as education and socioeconomic status are not reported and could introduce bias. Thus, responders might be more likely to report engaging in more exercise than the nonresponders might have been.