Adulthood with Turner Syndrome: Quality of life, psychosocial adjustment and clinical management in 70 Italian women

Abstract Background: Turner syndrome (TS) is a chromosomal abnormality (total or partial absence of one of the sexual chromosomes in some or all cells of the body), which affects approximately 1:2000 female. Principal characteristics are short stature and gonadal disgenesis. Clinical management consist of Growth Hormone (GH) treatment and oestrogen replacement therapy (HRT), to induce development of secondary characteristics and to avoid the sequelae of oestrogen deficiency. Aim of the study: To assess clinical management, quality of life (QoL) and general psychosocial adjustment of women with TS. Population: 70 adult Caucasian females with TS (mean age: 27.8, ± 7.6; range 18-48 y.). Setting: Specialist service for Rare Disease care, University Hospital. Methods: Subjects were required to fill in questionnaires collecting ASR, WHOQOL, and 8 open questions. Data were compared with those of the Italian population or to those collected in a comparison group (70 healthy females, mean age: 27.9, ±7.3, range 21-48 y.). Results: Women with TS are educated as well as the Italian Population, but they have a less successful professional life. They show good QoL in general, but they appeared less satisfied in social area. They had statistically higher scores than the comparison group for depression, anxiety and withdrawal. Are less involved in a love relationship. Diagnosis communication was mostly performed by doctors or parents, satisfaction was higher when information was given by parents. Main preoccupation about TS are infertility, feeling of being different and future health problem. Conclusions: Italian people with TS were generally well adapted and have a good QoL, but lived more often with parents and show impaired sentimental and sexual life. They have higher degree of psychological distress compared to a comparison group. Psychological intervention should firstly address parents in order to encourage an open communication on diagnosis issues and on sexual education.

Investigation of the Impacts of Parental Chronic Illness on Youth Caregiving Experiences and Psychosocial Adjustment.

Objective: Parental chronic illness has an impact on several aspects of offspring’s life. Three major impediments to research progress in this field are undeveloped and untested theoretical frameworks, no clear conceptualization of youth caregiving, and no available instrument to assess such construct in Italian. To address these weaknesses, the aims of this PhD dissertation were: (1) to investigate the psychometric properties of the Italian version of the Young Caregiver of Parents Inventory-Revised (YCOPI-R); (2) to empirically examine a model of the effects of parental illness on youth and family functioning innovatively analyzing the role of psychological flexibility; (3) to test a refined conceptualization of youth caregiving. Methods: A total of 501 adolescents aged 11 to 24 (295 young caregivers and 206 young noncaregivers) completed a questionnaire regarding youth caregiving, parental illness, and youth adjustment. In the first study, young caregivers were compared to noncaregivers, while the other studies used only the young carers subgroup. Results: The first study indicated that the Italian version of the YCOPI-R demonstrated sound psychometric and was able to discriminate between young caregivers and noncaregivers. The second study underlined the key protective role of psychological flexibility in shaping youth adjustment and family functioning in the context of parental illness. The third study innovatively clarified the nature of youth caregiving, indicating that it is a tripartite construct related to both positive and negative youth adjustment outcomes. Conclusions. This PhD project drew attention towards youth of chronically ill parents, a segment of the young population which is presently almost completely neglected in Italy by health policies and healthcare providers. This PhD project ultimately shed light into the processes through which parental illness results in detrimental youth outcomes and highlighted avenues for interventions that target empirically supported mechanisms which ameliorate the detrimental effects of parental illness on youth.

Youth psychosocial adjustment in the context of parental illness: risk and protective factors

Young carers might experience both psychological distress and positive changes from living with their chronically ill parent. However, little is known about why some young carers do well with their situation and experience positive outcomes, whereas others do not. In this regard, this dissertation aims to investigate how parental chronic illness affects young carers’ psychosocial adjustment through risk (i.e., unmet needs) and protective factors (i.e., benefit finding, emotion regulation). This main goal has been addressed by conducting three studies presented in Chapters 2–4. Chapter 2 has examined the mediating role of unmet needs on the relationship between illness unpredictability and youth psychosocial adjustment (i.e., quality of life and internalizing problems). In this regard, it has been found that levels of unmet needs significantly mediated the relationship between illness unpredictability and offspring health-related quality of life. In the systematic review with meta-analysis presented within Chapter 3, it has been sought to investigate the mediating role of the protective factors (i.e., benefit finding and emotion regulation) in the relationship between caregiving components and youth psychosocial adjustment in young carers. This study has shown the significant associations between caregiving components and psychosocial adjustment in young carers not only directly, but also indirectly through protective factors. Finally, to expand on previous findings, a qualitative study in Chapter 4 has examined the unique experiences of young carers, as well as the effects of the COVID-19 global pandemic. This study has yielded a deeper understanding of how protective factors may be operated during young carers’ lived experiences before and during the COVID-19 global pandemic. Overall, this dissertation has shed light on the pivotal role played by risk and protective factors in caregiving components that serve as key determinants that can enhance positive psychosocial outcomes as well as concurrently mitigate adverse psychosocial consequences among young carers.