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.

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.

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.

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).

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).

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.

[The development of cognitive functions in children with Hurler phenotype mucopolysaccharidosis type I on enzyme replacement therapy with laronidase].

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.

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.