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.

Psychosocial correlates of rehabilitation from stroke: a longitudinal study

The general aim of this dissertation was to uncover the association between psychosocial factors and rehabilitation outcome after stroke. METHOD. A sample of patients with stroke (n=40) and their caregivers (n=36) were assessed at admission to and six months after discharge from rehabilitation hospital, using the following instruments: Structured Clinical Interview for DSM-IV, structured interview based on Diagnostic Criteria for Psychosomatic Research, Symptom Questionnaire, Psychosocial Index, Psychological Well-Being Scales, and Family Assessment Device. 40 subjects from the general population underwent the same psychological assessment. In addition, patients' functional status was measured using the Functional Independence Measure. RESULTS. Stroke survivors reported lower education and higher alcohol consumption than controls. No significant differences emerged between the two groups in the prevalence of psychiatric diagnoses or psychosomatic syndromes, however patients reported significantly higher levels of anxiety, depression, somatic symptoms, and lower autonomy than controls. Caregivers reported significantly higher scores in anxiety, depression, and somatic symptoms compared to normative data, while no impairments emerged in psychological well-being and family functioning. At six-month follow-up, in patients a significant decrease in smoking habit and an increase in DSM diagnoses were reported. Both stroke survivors and caregivers showed significant reductions in anxiety, with patients displaying also a decrease in somatic symptoms, an increase in stress and a deterioration in quality of life. Significant deteriorations in several aspects of family functioning was perceived only by patients. An association between patients' functional recovery in the cognitive domain and family behavior control emerged. For caregivers, family functioning significantly predicted hostility and somatic symptoms were associated with family affective involvement. CONCLUSIONS. These data highlight the utility in the Italian setting of the adoption of a psychosocial assessment and a family-systems approach in stroke rehabilitation, in order to development interventions properly targeted to the characteristics of patients and their family members.