Reliability and validity of PedsQL for Portuguese children aged 5–7 and 8–12 years

BACKGROUND: Pediatric Quality of Life Inventory (PedsQL) is a measure to assess health-related quality of life (HRQoL) in children and adolescents. It is formed by 23 items adapted to children age and includes a parent proxy report version. With four multidimensional subscales and three summary scores, it measures health as defined by WHO. The concepts measured by this instrument are ‘physical functioning’ (8 items), ‘emotional functioning’ (5 items), ‘social functioning’ (5 items) and ‘school functioning’ (5 items). It also measures a ‘total scale score’ (23 items), a ‘physical health summary score’ (8 items) and a ‘psychosocial health summary score’ (15 items). The aim of this paper is to present the main results of the cultural adaptation and validation of the PedsQL into European Portuguese. METHODS: The Portuguese version was the result of a forward-backward translation process, with a cognitive debriefing analysis, guaranteeing face validity and semantic equivalence. Children aged 5–7 and 8–12 were randomly selected and were asked to fill a socio-demographic data survey and the Portuguese versions of PedsQL and KINDL, another HRQoL measure for children and adolescents. They were divided into three groups, healthy children, children with type I diabetes and children with spina bifida. The reliability was tested for reproducibility (ICC) and internal consistency (Cronbach’s alpha). The construct validity (known-groups discriminant validity) was supported by differences between self-reports from healthy children and children with chronic conditions, and from children with chronic diseases and their parents. The criterion validity was tested after the correlations of the scores obtained by both children and adolescents HRQoL assessment instruments. RESULTS: A total of 179 children and 97 parents were recruited. PedsQL demonstrated good levels of reproducibility (r > 0.95 in all versions) and acceptable levels of internal consistency with Cronbach’s alpha at 0.70 on most scales. Concordance values between children’s and parents’ perceptions ranged between 0.36 and 0.78 and the correlations with KINDL questionnaire were excellent, supporting concurrent validity. CONCLUSIONS: The Portuguese version of the PedsQL demonstrated acceptable psychometric properties for future research and clinical practice for children aged 5–12

Clinical and biological progress over 50 years in Rett syndrome

In the 50 years since Andreas Rett first described the syndrome that came to bear his name, and is now known to be caused by a mutation in the methyl-CpG-binding protein 2 (MECP2) gene, a compelling blend of astute clinical observations and clinical and laboratory research has substantially enhanced our understanding of this rare disorder. Here, we document the contributions of the early pioneers in Rett syndrome (RTT) research, and describe the evolution of knowledge in terms of diagnostic criteria, clinical variation, and the interplay with other Rett-related disorders. We provide a synthesis of what is known about the neurobiology of MeCP2, considering the lessons learned from both cell and animal models, and how they might inform future clinical trials. With a focus on the core criteria, we examine the relationships between genotype and clinical severity. We review current knowledge about the many comorbidities that occur in RTT, and how genotype may modify their presentation. We also acknowledge the important drivers that are accelerating this research programme, including the roles of research infrastructure, international collaboration and advocacy groups. Finally, we highlight the major milestones since 1966, and what they mean for the day-to-day lives of individuals with RTT and their families

The burden of pediatric HIV/AIDS in Constanta, Romania: a cross-sectional study

<p>Abstract</p> <p>Background</p> <p>By 1990, 94 percent of the acquired immunodeficiency syndrome (AIDS) cases in Romania were in children less than 13 years of age. The majority of the cases were identified in the city of Constanta. The purpose of this paper was to describe the current burden of pediatric human immunodeficiency virus (HIV) infection in the Constanta county.</p> <p>Methods</p> <p>A cross-sectional study was designed to address the primary objective. Between April 1999 and March 2000, all living cases of pediatric HIV infection in the Constanta county were identified from records at the HIV hospital clinic which serves the Constanta county. Standard demographic, social, clinical, treatment and hospitalization data were collected for each study subject. Data were analyzed according to cross-sectional study design methodology.</p> <p>Results</p> <p>Of the 762 subjects, the majority were seven to 11 years of age, lived with their parents and attended school. Only 70% of the fathers and 13% of the mothers were employed. Horizontal transmission accounted for 90% of the cases. Most of the children had moderate to severe disease as indicated by their AIDS-defining signs; 40% had AIDS. Less than half of the children were receiving antiretroviral therapy (ART). ART and children of mothers with a high school or greater education were independent predictors of long-term non-progression of HIV disease.</p> <p>Conclusions</p> <p>This cross-sectional study demonstrated that ten years after the HIV epidemic was identified in Romania, it remains a health and economic burden. The infected children are very ill, but ART is not available for all. The proportion with vertical transmission has increased from an estimated four % to nine %. Our findings support the need to get HIV therapy to economically challenged countries such as Romania.</p

Rett syndrome: clinical and molecular characterization of two Brazilian patients Síndrome de Rett: caracterização clínica e molecular de dois casos brasileiros

BACKGROUND: Rett syndrome (RS) is recognized as a pan-ethnic condition. Since the identification of mutations in the MECP2 gene, more patients have been diagnosed, and a broad spectrum of phenotypes has been reported. There is a lack of phenotype-genotype studies. OBJECTIVE: To describe two cases of Brazilian patients with identified MECP2 mutations. METHOD: We present two female Brazilian patients with RS. RESULTS: Both patients presented with regression at 2-3 years of age, when stereotypic hand movements, social withdrawal and postnatal deceleration of head growth rate were observed. Both patients presented verbal communication impairment. Case 1 had loss of purposeful hand movements, and severe seizure episodes. Case 2 had milder impairment of purposeful hand movements, and no seizures. They had different mutations, D97Y and R294X, found in exons 3 and 4 of MECP2 gene, respectively. CONCLUSION: Testing for MECP2 mutations is important to confirm diagnosis and to establish genotype/phenotype correlations, and improve genetic counseling.<br>CONTEXTO: Síndrome de Rett (RS) é doença pan-étnica de fenótipo bastante variado desde que foram identificadas mutações no gene MECP2 e um número maior de pacientes tem sido diagnosticadas. Existe uma demanda por estudos que investiguem a relação genótipo-fenotipo. OBJETIVO: Descrever dois casos brasileiros de RS com mutações identificadas. MÉTODO: Duas pacientes brasileiras com diagnóstico clínico-molecular de RS foram descritas buscando-se correlacionar genótipo-fenótipo. RESULTADOS: Ambas pacientes apresentaram regressão aos 2-3 anos de idade, movimentos esteriotipados de mãos, retraimento social e desaceleração do crescimento encefálico. Ambas apresentaram déficit de comunicação verbal. Caso 1 também apresentou perda dos movimentos manuais intencionados e crises convulsivas graves. Caso 2 apresentou-se com comprometimento parcial dos movimentos manuais e sem história de crise convulsiva. As mutações distintas, D97Y e R294X, foram encontradas respectivamente em exons 3 e 4 do gene MECP2. CONCLUSÃO: A investigacao de mutações no gene MECP2 é importante na confirmação diagnóstica, investigação genótipo-fenótipo, e aconselhamento genético em síndrome de Rett