Emotional and behavioural functioning in children with tyrosinaemia type 1.

INTRODUCTION: Tyrosinaemia type I is a rare hereditary metabolic disease caused by deficiency of the enzyme involved in the breakdown of tyrosine. Since the use of nitisinone in addition to diet in 1992, survival rates have increased significantly, but more and more socio-emotional problems have become apparent. The aim of the study was the assessment the relationship between variations in serum tyrosine and phenylalanine levels and measurements of socio-emotional functioning and determination of patients' IQs. THE AIM OF THE STUDY: was the assessment the relationship between variations in serum tyrosine and phenylalanine levels and measurements of socio-emotional functioning and determination of patients' IQs. MATERIAL AND METHODS: Twelve children were studied, from a single centre, born between 1994 and 2012, treated with nitisinone and a low-phenylalanine and -tyrosine diet. The psychological evaluation was conducted using the parent form of the Child Behaviour Checklist (CBCL)/4-18. Additionally, the patients' IQs were measured using the Stanford-Binet 5 (SB5) Intelligence Scale. Statistical analyses were performed using PAWS software suite version 26. We found that phenylalanine variability over time correlated with measures of emotional and behavioural functioning. This relationship holds true for externalising behaviour, associated with the experience of maladjustment and aggression. Total score intellectual and cognitive function was within the norm for all patients. CONCLUSIONS: To maintain better quality of life for patients and their families in terms of emotional and behavioural functioning, it may be important to avoid spikes (significant fluctuations) in phenylalanine levels. Regular, detailed psychological evaluations are recommended to detect potential problems and implement interventions aimed at achieving the best possible individual development and realise the intellectual and behavioural potential, thereby improving the patient's and her family's quality of life.

Quality of life in heart failure patients undergoing home-based telerehabilitation versus outpatient rehabilitation--a randomized controlled study.

BACKGROUND: The most common manifestation of heart failure is physical capacity impairment resulting in dyspnoea and fatigue. The disease deteriorates the quality of life (QoL). Its consequences restrict not only functioning in the physical aspect of QoL but also patients' emotional condition. OBJECTIVE: The study is aimed to assess QoL changes in HF patients after home-based telemonitored cardiac rehabilitation (HTCR Group) versus outpatient-based standard cardiac rehabilitation (SCR Group). METHODS: The study comprised 131 heart failure patients (aged 56.4±10.9 years; II/III NYHA) rehabilitated for eight weeks in two random groups: HTCR Group (n=75), participating in home-based rehabilitation supervised telemedically based on walking training; SCR Group (n=56), participating in traditional outpatient-based rehabilitation (cycloergometer training). QoL parameters were assessed with a Polish version of the Medical Outcomes Study Short Form 36 Health Survey Questionnaire (SF-36). RESULTS: After rehabilitation, both groups achieved a significant QoL improvement, both physically and mentally. HTCR Group patients improved in QoL physical categories in one subscale (physical function), and in two subscales in the mental categories (mental health, vitality). In SCR Group, three physical subscales improved (physical function, role limitation caused by physical problems, bodily pain). In the mental categories, also three subscales improved (social function, mental health, vitality). CONCLUSIONS: The study demonstrated that in heart failure patients HTCR provided a similar improvement in total QoL index as SCR. Yet it differed in QoL subscales. Patients who underwent home-based telerehabilitation observed an improvement mainly in the mental categories. Patients in SCR Group improved their general physical well-being.

[Quality of life in patients after the Ross operation for aortic stenosis]. / Jakosc zycia u pacjentów po korekcji lewego ujscia tetniczego metoda Rossa.

The pulmonary autograft provides ideal conditions regarding hemodynamics. Its additional value is durability and low thromboembolic hazard. We postulated that the Ross technique results in minimal restrictions on patient's lifestyle as compared to normal controls and we expected the patients to have good quality of life (QoL). On the other hand QoL may be affected by the risk of the homograft degeneration and the need of reoperation in the future. The aim of the study was to assess the QoL of patients after Ross operation because of aortic valve stenosis. Postoperative condition of the patients was judged by resting transthoracic echo, 24 hour ECG recording, maximal exercise test on bicycle ergometer. The mean age of patients was 31.1 (N=50; 18 female, 32 male). The mean follow-up was 3.6 years. We applied the Short Form Health Survey Questionnaire (SF-36) for assessment of QoL. The results of psychological tests were compared with age, gender and education matched control group without underlying cardiac disease. Overall QoL (QoL index) did not vary between patients and control group. The only significant difference concerned physical sum score and subtests of physical functioning (scale 1) and general health perception (scale 8). There were no differences in psychological health sum score. We concluded that in general, patients after the Ross operation enjoy a normal life style. The results of our study are consistent with well known advantages of Ross procedure. This study also implies the need for more detailed information concerning patient's lifestyle after the operation. Patient's family and doctors who are to take care of the patient after leaving hospital ought to be instructed as well. Education should specify patient's ability to perform different everyday abilities, especially physical ones. The aim of the education is to eliminate negative self-assessment of patient's own physical abilities which probably originate from preoperative period and stress connected with operation.