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.

Internalizing and externalizing behaviors in children and adolescents with Wilson's disease in the context of quality of life.

Patients with Wilson's disease (WD) are at increased risk of poor quality of life (QoL) and social-emotional outcomes. The above data has been well established in the adult population. What are the predictors of QoL in children and adolescents with WD are unknown. Our study examined whether subjective feelings about QoL are related to the psychosocial functioning in paediatric patients. A cross-sectional study among 50 children with WD, aged 7-18 years. Participants completed the KINDL QoL questionnaire and the Child Behavior Checklist assessing internalizing and externalizing behaviors. Internalizing and externalizing behaviors and their interaction are significant in predicting the QoL of children with WD. Internalizing behaviors are significant predictor of the QoL ß = -0.328 (p < 0.05). The effect of internalizing behavior on the QoL varies with the level of externalizing behavior ß = -0.344* (p < 0.05). Simple effects analysis indicates that the highest QoL for children with WD is in the group characterized by both low levels of internalizing and medium levels of externalizing behaviors, t = -3.052 (df = 46) and p < 0.01, or high levels of externalizing behaviors, t = -2.725 (df = 46) p < 0.01. The interaction between internalizing behaviors explained an additional 7.5% of the variance in scores on the QoL scale. Overall, the final regression model explained 14.9% of the scores on the QoL scale. Monitoring internalizing and externalizing behaviors will allow a better understanding of the course of treatment. In chronic disease, the QoL is an aspect that determines the doctor-patient relationship and often determines the course of the therapeutic process.

Influence of Parental Attitudes on Formation of Psychological Resilience and Adherence to Medical Regime in Adolescents after Liver or Renal Transplantation.

Identifying the causes of poor disease control and medication non-adherence is indispensable so that patients can benefit from treatment. The aim of our study was to determine the relationship between parental attitudes, the development of psychological resilience, and systematic medication adherence in a group of adolescents after kidney and liver transplantation. The analysis included the results obtained from 96 families. A total of 52 patients after kidney transplantation and 44 patients after liver transplantation, aged 12-18 years and their parents were examined. The types of parental attitudes were assessed using the Parental Attitude Scale. The patient's resilience was determined with the Resiliency Assessment Scale. The MMAS-8 was used to assess the regularity of medication-taking behavior. A total of 61% of the patients in the study group displayed high levels of psychological resilience. The analyses showed a positive correlation between resilience and the systematic taking of medication by the patients. Moreover, it was found that the analyzed link between psychological resilience on the degree of the regularity of medication intake was enhanced by a specific type of parental attitude. The obtained results confirm the importance of psychological resources in developing better disease control. The relationship between the type of parental attitudes and medication adherence indicates the need to take into account the family context during the child's treatment.

Attitude of healthcare professionals: a major limiting factor in organ donation from brain-dead donors.

Public attitude toward deceased donor organ recovery in Poland is quite positive, with only 15% opposing to donation of their own organs, yet actual donation rate is only 16/pmp. Moreover, donation rate varies greatly (from 5 to 28 pmp) in different regions of the country. To identify the barriers of organ donation, we surveyed 587 physicians involved in brain death diagnosis from regions with low (LDR) and high donation rates (HDR). Physicians from LDR were twice more reluctant to start diagnostic procedure when clinical signs of brain death were present (14% versus 5.5% physicians from HDR who would not diagnose death, resp.). Twenty-five percent of LDR physicians (as opposed to 12% of physicians from HDR) would either continue with intensive therapy or confirm brain death and limit to the so-called minimal therapy. Only 32% of LDR physicians would proceed with brain death diagnosis regardless of organ donation, compared to 67% in HDR. When donation was not an option, mechanical ventilation would be continued more often in LDR regions (43% versus 26.7%; P < 0.01). In conclusion, low donation activity seems to be mostly due to medical staff attitude.

The role of emotional control in the regulation of mood in parents of children with mucopolysaccharidosis.

The aim of our study was to evaluate whether, on the basis of variables related to emotional control, we can anticipate mood change in parents of chronically ill children. Fifty-four parents of children with diagnosed mucopolysaccharidosis participated in the study that was carried out during a rehabilitation programme for children with rare metabolic diseases. To assess emotional control, a Polish adaptation of the Courtauld Emotional Control Scale was used, and mood was measured with the UWIST Mood Adjective Checklist (UMACL). Mood was assessed twice, at an interval of 8 days, on the dimensions of hedonic tone, tense arousal and energetic arousal. The baseline level of each mood dimension accounted for about 30% of the mood variance measured after 8 days. After excluding the part of the mood variance associated with the baseline level, the variables related to emotional control appeared to be significant predictors of the mood assessed 8 days later. For hedonic tone, variables related to emotional control explained 15% of the variance; for tense arousal, it was 14% of the variance; and for energetic arousal, it was 10% of the variance. Depending on the type of emotion and the degree of control, differences in tendencies to respond with a particular mood were observed.

Behavioral and intellectual functioning in patients with tyrosinemia type I.

INTRODUCTION: In tyrosinemia type I (TT1) increased level of tyrosine and phenylalanine (both precursors of neurotransmitters), may potentially influence patients' cognitive development. AIM OF THE STUDY: Was to evaluate if the children during the treatment with phenylalanine- and tyrosine-restricted diet and nitisinone present with cognitive, emotional or behavioral problems and to find out whether plasma tyrosine and phenylalanine levels may have impact on this. MATERIAL AND METHODS: Cognitive development and behavior, together with plasma tyrosine and phenylalanine levels, were analyzed in eight patients during their first five years of nitisinone treatment. Psychological examination has been done using standard diagnostic methods: the Wechsler Intelligence Scale for Children (WISC-R) and Child Behavior Checklist CBCL/4-18 (parents version). RESULTS: The results showed that in the patients with TT1, attention deficit is not rare, and may be connected with the variation of the plasma tyrosine level. Moreover the reverse correlation between attention deficit and results from verbal scale may suggest decreased ability to verbal reasoning, comprehension, verbal expression and school difficulties. CONCLUSIONS: What is significant for the presence of attention disorders and the related difficulties in using the intellectual potential is not the level of tyrosine (high vs. low), but its changes (stability vs. instability). Therapeutic trials to stabilize the tyrosine level could alleviate the difficulties in focusing attention. Following a diet is necessary for keeping the normal level of tyrosine.

[The development of cognitive functions in children with Hurler phenotype mucopolysaccharidosis type I on enzyme replacement therapy with laronidase]. / Rozwoj funkcji poznawczych u dzieci z mukopolisacharydoza typu I (choroba Hurler) leczonych enzymatycznie laronidaza

INTRODUCTION: Mucopolysaccharidosis type I (MPS I) Hurler syndrome, Hurler/Scheie i Scheie is a metabolic disorder manifesting in early childhood, and characterized by the accumulation of mucopolysaccharides (glycosaminoglycans - GAG) in the cells, blood, and connective tissues. Eventually, this causes damage to cells and organs, leading to progressive impairment of the child's physical abilities, organ function, and mental development. Treatment with enzyme replacement therapy (ERT) alleviates many symptoms of the disease, however, there is no evidence indicating that ERT is effective in the prevention of nervous system degradation. THE AIM OF THE STUDY: The current study seeks to assess the development of cognitive functions in ERT-treated children with Hurler syndrome. MATERIAL AND METHODS: The analysis covers 8 children suffering from MPS type I (7 boys and 1 girl), aged from 9.8 months to 12.7 months at the beginning of the study. All were on enzymatic treatment for the first year of life. The level of intellectual development was measured using the Psyche Cattell Infant's Intelligence Scale. RESULTS: Children with MPS type I achieved significantly lower IQ scores compared to the reference group of healthy children. Qualitative analyses revealed that the acquisition of skills and new cognitive functions is very slow in children with MPS type I. CONCLUSIONS: 1. Among children with MPS type I, there was a measurable decrease in IQ associated with advancing age. 2. In spite of lower IQ, the acquisition of new abilities does occur, but the pace of that development is slower than that expected for the child's age. 3. The study reveals the need for functional diagnosis of development, in order to assess the progress made by the child.

Investigations of micro-organic brain damage (MOBD) in heterozygotes of metachromatic leukodystrophy.

Potential damage of central and peripheral nervous system expressed as micro-organic brain damage (MOBD) was investigated in 27 unrelated heterozygotes with metachromatic leukodystrophy (MLD). Arylsulfatase A (ARSA) was determined in peripheral blood leukocytes and sulfatide excretion was estimated in 24-hour urine collections. Genomic DNA was analyzed for the ARSA pseudodeficiency (PD) allele by a PCR method. Clinical investigations included examination of hyper-reflexia, Babinski reflex, Wechsler Adult Intelligence Scale, Benton test, evoked potentials, and nerve conduction velocity (NCV). In our study, a higher incidence of evident or possible micro-organic brain damage was observed in true MLD/PD and MLD heterozygotes (NO/MLD, where NO means the wild allele) than in controls. On the basis of the Benton test, MOBD was suggested or indicated in 67% of MLD heterozygotes, 50% of MLD/PD heterozygotes, and 26% of controls. In our small group of carriers with MLD and PD mutations, persons NO/MLD(PD) with one wild-type allele did not show MOBD and displayed higher ARSA/beta-galactosidase ratios, unlike true MLD/PD compound heterozygotes who carry MLD-causing mutation in one allele and the ARSA-PD polymorphism in the second. Theoretically, this is a shift from autosomal recessive to autosomal dominant-like inheritance, especially when one cannot exclude the influence of polymorphisms (like ARSA-PD) in the wild allele. Since all psychological tests were age-matched, it can be assumed that the MOBD observed in MLD carriers does not have a progressive character unlike in MLD patients. However, it should be mentioned that MOBD appears to have no overt clinical consequences.