Assuntos
Insuficiência Adrenal/diagnóstico , Insuficiência Adrenal/genética , Polimorfismo Genético/genética , Leucemia-Linfoma Linfoblástico de Células Precursoras/diagnóstico , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Receptores de Glucocorticoides/genética , Adolescente , Insuficiência Adrenal/induzido quimicamente , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Lactente , Masculino , Projetos Piloto , Leucemia-Linfoma Linfoblástico de Células Precursoras/tratamento farmacológico , Prednisona/efeitos adversos , Resultado do TratamentoRESUMO
PURPOSE: The aim of the study is to report on the feasibility, reliability, validity, and the norm-references of the Dutch version of the PedsQL™ Multidimensional Fatigue Scale. METHODS: The study participants are four hundred and ninety-seven parents of children aged 2-18 years and 366 children aged 5-18 years from various day care facilities, elementary schools, and a high school who completed the Dutch version of the PedsQL™ Multidimensional Fatigue Scale. RESULTS: The number of missing items was minimal. All scales showed satisfactory internal consistency reliability, with Cronbach's coefficient alpha exceeding 0.70. Test-retest reliability was good to excellent (ICCs 0.68-0.84) and inter-observer reliability varied from moderate to excellent (ICCs 0.56-0.93) for total scores. Parent/child concordance for total scores was poor to good (ICCs 0.25-0.68). The PedsQL™ Multidimensional Fatigue Scale was able to distinguish between healthy children and children with an impaired health condition. CONCLUSIONS: The Dutch version of the PedsQL™ Multidimensional Fatigue Scale demonstrates an adequate feasibility, reliability, and validity in another sociocultural context. With the obtained norm-references, it can be utilized as a tool in the evaluation of fatigue in healthy and chronically ill children aged 2-18 years.
Assuntos
Fadiga/fisiopatologia , Inquéritos e Questionários/normas , Adolescente , Criança , Pré-Escolar , Fadiga/diagnóstico , Feminino , Humanos , Lactente , Masculino , Países Baixos , Pais , ProcuradorRESUMO
Alpha-1-antitrypsin deficiency (AATD) was diagnosed in a girl aged two months and a boy aged 18 days with neonatal cholestasis syndrome and vitamin K deficiency-induced bleeding, including intracerebral bleeding. The differential diagnosis of neonatal cholestasis syndrome takes time, and treatable causes should be recognised as soon as possible. AATD is the most common hereditary cause of neonatal cholestasis syndrome. This autosomal recessive disorder is also associated with adult pulmonary emphysema. Diagnosis is simply made by determining the proteinase inhibitor (PI) phenotype with isoelectric focusing. No effective treatment is available. For patients with persistent liver disease liver transplantation may be necessary.
