Search

A síndrome de Prader Willi (SPW) é uma doença genética causada pela deleção de genes na região 15q11-13. Associa-se com deficiência intelectual e alterações neurocomportamentais de difícil manejo. O objetivo do estudo foi comparar os problemas de comportamento de dois grupos de crianças e adolescentes com SPW em função da possibilidade de acesso livre e de acesso restrito a alimentos no ambiente familiar. A amostra foi composta por 12 crianças e adolescentes com diagnóstico citogenético-molecular para SPW (seis em cada grupo) e suas respectivas mães. Das crianças e adolescentes foi registrado o peso corporal em Kg e junto às mães foi aplicado o Inventário de Comportamentos para Crianças e Adolescentes entre 6 e 18 anos (CBCL/6-18). Houve diferenças estatisticamente significativas entre os grupos em relação a problemas de ansiedade e depressão, violação de regras e desafio e oposição. O grupo de acesso restrito ao alimento apresentou maior número de problemas comportamentais

OBJETIVO: Identificar, em um grupo de crianças e adolescentes com síndrome de Prader-Willi, as principais características do fenótipo comportamental. MÉTODOS: A amostra foi composta por 11 crianças e adolescentes com diagnóstico clínico e citogenético-molecular da síndrome de Prader-Willi. A técnica de coleta de dados foi o Inventário dos Comportamentos de Crianças e Adolescentes entre 6 e 18 anos (CBCL/6-18). A análise de correlação bivariada, com nível de significância p

Prader-Willi Syndrome (PWS) is a genetic disorder caused by the lack of expression of paternal alleles in the proximal region of the long arm of chromosome 15. Low inhibitory control and hyperphagia are two of the most severe neurobehavioral symptoms of the syndrome. The aim of the present study was to assess the efficiency of nutritional training program with the use hypocaloric diet for weight control in a group of five children and adolescents with PWS. The intervention program consisted of 10 sessions for parents' orientation during 8months. Patients had their anthropometric measures assessed (weight, height and body mass index - BMI). The main results indicate weight maintenance, height increase, and BMI decrease after intervention. These results were considered indicators of the program's efficiency.

Mental disorder is a behavioral pattern that causes psychological suffering or incapacity (American Psychiatric Association [APA], 2003). This concept also underlines that whatever the cause of the problem, a mental disorder is the manifestation of a behavioral, psychological or biological dysfunction. The manual offers an organizational plan that groups mental disorders in 16 diagnostic categories. These categories are described according to common traits that allow the specialist to identify the disorder or make differential diagnosis when necessary (APA, 2003). DSM follows the International Statistical Classification of Diseases and Related Health Problems (ICD-10) developed by the World Health Organization (World Health Organization [WHO], 2000).

RESUMO Objetivo: verificamos os indicadores de impacto na saúde mental de cuidadores de um programa de treinamento parental para manejo de crianças e adolescentes com Síndrome de Prader-Willi. Métodos: a amostra foi composta por 5 mães de crianças/adolescentes com Síndrome de Prader-Willi entre 6 a 18 anos. Os instrumentos de coleta de dados foram: a) Questionário para verificação de conhecimentos das mães sobre a síndrome, b) Inventário de Auto-avaliação para Adultos de 18 a 59 anos, c) Inventário de Estilos Parentais/Práticas educativas maternas e paternas; d) Levantamento de dificuldades e preocupações sobre os filhos. O estudo foi realizado em quatro fases: pré-intervenção, intervenção, pós-intervenção e seguimento. Resultados: as mães passaram a adotar práticas parentais educativas baseadas na monitoria positiva, diminuíram as práticas de risco. Conclusão: houve melhora em indicadores de dificuldades emocionais das mães, apreenderam a identificar e manejar fatores que prejudicavam a saúde física, o comportamento e a aprendizagem escolar dos filhos e a necessidade do envolvimento de outros familiares no cuidado do filho. ABSTRACT Purpose: we verified the impact of the parent training program for management of children and adolescents with Prader-Willi Syndrome on the mental health caregivers. Methods: the sample was composed by five mothers of children / adolescents with Prader-Willi Syndrome between 6-18 years. The data collection instruments were: a) Questionnaire for verification Mothers' knowledge about the syndrome, b) Inventory Self-Assessment for Adults 18-59 years c) Inventory of Parental Styles / maternal and paternal educational practices; d) Survey of difficulties and concerns about their children. The study was conducted in four phases: pre-intervention, intervention, post-intervention and follow-up. Results: as a result we find that mothers have adopted parental educational practices based on positive monitoring, decreased risk practices. Conclusion: we conclude that there was an improvement in indicators of emotional difficulties of mothers, seized identify and manage factors that harmed the physical health, behavior and school learning of the children and the need to involve other family members in child care.

Background Physical activity programs are a powerful tool against several diseases including obesity and their comorbidities. Prader–Willi syndrome is the most common genetic disease associated with obesity, and brings with it behavioral and emotional problems that need complex management. Research into the effect of physical activity programs on Prader–Willi syndrome is limited and it is frequently argued that if a physical activity program is too complex, the participants are more likely to drop out. Therefore, in this study, we assessed the physiological adaptation effect of a physical activity program with increasing complexity and load, in a boy and a girl with Prader–Willi syndrome by assessing changes in lipid profile, body composition, and physical fitness parameters. Case presentation Case 1 was an 11-year-old girl, mixed race (brown), with an intelligence quotient of 68, 52.0 % body fat, and a body mass index of 45.3 kg/m2. The Prader–Willi syndrome diagnosis was made when she was 5-years old and was found to be due to an imprinting genomic defect. Case 2 was a 14-year-old boy, mixed race (brown), with an intelligence quotient of 74, 48.8 % body fat, and a body mass index of 37.3 kg/m2. The diagnosis was made when he was 10-years old and was found to be caused by gene deletion. Both participants presented physical characteristics and behavior problems typical of Prader–Willi syndrome. Case 2 presented high blood pressure, high cholesterol and sleep apnea and had to use continuous positive airway pressure to sleep. Both participants were assessed for 12 weeks (three times a week) using a physical activity program designed to improve strength and muscle hypertrophy. The work load was progressively adjusted as necessary and new exercises were added to the program. Prior to the program, the participants’ parents received instructions about managing problem behavior and advice about nutrition. Conclusions After physical activity program several health markers assessed by biological tests and parental report had improved in both participants. The participants positively accepted the adaptations made to the physical activity program during the study. More studies are necessary to assess the benefits of physical activity in the Prader–Willi syndrome population.