Lack of autonomy may hamper Turner syndrome patient transition to adult care

medwireNews: Girls with Turner syndrome (TS) are less prepared for transition to adult medical care than other patients with long-term health issues and may benefit from additional support, say Austrian researchers.

While admitting that their study lacks the neuropsychological test information required to identify specific weaknesses in executive function among TS patients, the investigators say their findings “provide evidence for impaired specific abilities necessary for health autonomy in the group of girls and young women with TS when [compared] to the control group.”

Gabriele Häusler, from the Medical University of Vienna, and co-workers compared Transition Readiness Assessment Questionnaire (TRAQ-GV-15) results for 26 TS patients and 26 patients with type 1 diabetes or a rheumatic disease.

Both patient groups were aged an average of 17 years (range 14–23 years) and were attending endocrine outpatient clinics, with 71.4% of TS patients having one or two appointments per year versus 10.5% of those with type 1 diabetes or rheumatic disease, while three or four routine appointments per year were reported by 28.6% and 89.5%, respectively.

Among the TS patients, 12 had a 45,X karyotype and 14 had 46,XX or 46,Xi(Xq) line mosaicism; 22 of the patients had received growth hormone therapy and this treatment was ongoing in eight girls.

Four TS patients had spontaneous puberty, while the remainder had pubertal induction and oestrogen substitution from an average age of 12 years. At the time of completing the TRAQ-GV-15, all patients were on a cyclical preparation of oral 17β-oestradiol or transdermal oestradiol, were at Tanner stage 4 or 5, and had regular menstrual bleeding, the investigators note.

By comparison, all the patients in the control group had normal puberty for their age and/or regular menstruation with no requirement for hormone therapy, they write.

Overall, TS patients were less ready to transition than controls, as indicated by a significantly lower total score on the TRAQ-GV-15, at an average of 3.63 versus 3.92 on a 5-point Likert scale.

Although the patient groups did not differ significantly with regard to the health literacy and adherence subscales, the TS patients had a significantly lower score than controls on the autonomy subscale, at an average 3.77 versus 4.20 points. Specifically, TS patients scored significantly lower on the autonomy subscale questions asking whether they arranged their own medical care and travel to appointments.

In addition, the TS patients took significantly longer to complete the questionnaire, with 56.5% taking up to 5 minutes, 26.1% up to 10 minutes and 17.4% up to 20 minutes, whereas 84.6% of the controls took up to 5 minutes and 15.4% no more than 10 minutes.

And patients with TS required longer counselling time during their consultation for the TRAQ-GV-15 questionnaire, with 8.3% taking less than 15 minutes, 62.5% requiring at least 30 minutes and 29.2% 60 minutes, whereas 84.6% of controls required around 15 minutes and the remainder up to 30 minutes.

“As all the participants in the TS study group were adequately substituted with oestrogens and the pubertal stage was comparable to the female individuals in the control group, we conclude that the discrepancies in TRAQ scoring in the TS group cannot be explained by differences in pubertal development”, the authors write, questioning whether “very early and ultra-low-dose” oestrogen therapy might improve cognitive function and autonomy in TS patients.

Writing in Clinical Endocrinology, Häusler et al suggest that clinicians “use questionnaires like the TRAQ – which can easily be implemented in routine visits – in order to determine the individual readiness for transition as determined by items which refer to everyday-life situations important in a successful transfer to adult medical care.”

“In addition, we recommend that health care professionals prepare for longer and intensified individual consultancy for adolescent girls with TS during the transition period. This additional time should also be dedicated to early introduction of general [healthcare transition readiness]-related topics.”

The authors add: “Still, in a considerable number of young women with TS transfer to the adult services might take place at an older age than 18.”

By Lynda Williams

medwireNews is an independent medical news service provided by Springer Healthcare. © 2020 Springer Healthcare part of the Springer Nature Group

Clin Endocrinol 2020; doi:10.1111/cen.14293
Martin Savage
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