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      Restrição alimentar e problemas de comportamento de crianças com Síndrome de Prader-Willi Translated title: Dietary restriction and behavioral problems of children with Prader Willi syndrome

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          Abstract

          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.

          Translated abstract

          Prader-Willi syndrome (PWS) is a genetic disorder caused by a deletion of genes in region 15q11-13. It is associated with intellectual disability and unwieldy neurobehavioral alterations. The aim of the study was to compare behavior problems of two groups of children and adolescents with PWS considering the possibility of free or restricted access to food at home. The sample was composed of 12 children and adolescents with cytogenetic-molecular diagnosis of SPW (6 in each group) and their mothers. Children and adolescents had their body weight recorded and the Child Behavior Checklist for ages 6-18 years old (CBCL/6-18) was answered by the mothers. The groups presented statistically significant differences related to problems of anxiety and depression, violation of rules and defiance and opposition. The group with restricted access to food presented more behavioral problems.

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          Most cited references84

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          Manual for the Child Behavior Checklist/4-18 and 1991 Profile

          The Child Behavior Checklist for ages 4-18 is designed to record children's competencies and problems as reported by their parents or parent surrogates. It can be self-administered or administered by an interviewer. The 20 competence items obtain parents' reports of the amount and quality of their child's participation in sports, hobbies, games, activities, jobs and chores, and friendships; how well the child gets along with others and plays and works alone; and school functioning. Each of the 118 specific problem items and two open-ended problem items are scored on a 3-step response scale. The Checklist is intended as only one component of many, including teacher reports, standardized tests, physical assessment and direct assessment of the child. Reliability and validity are discussed.
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            Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster.

            Prader-Willi syndrome (PWS) is caused by deficiency for one or more paternally expressed imprinted transcripts within chromosome 15q11-q13, including SNURF-SNRPN and multiple small nucleolar RNAs (snoRNAs). Balanced chromosomal translocations that preserve expression of SNURF-SNRPN and centromeric genes but separate the snoRNA HBII-85 cluster from its promoter cause PWS. A microdeletion of the HBII-85 snoRNAs in a child with PWS provides, in combination with previous data, effectively conclusive evidence that deficiency of HBII-85 snoRNAs causes the key characteristics of the PWS phenotype, although some atypical features suggest that other genes in the region may make more subtle phenotypic contributions.
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              Nutritional phases in Prader-Willi syndrome.

              Prader-Willi syndrome (PWS) is a complex neurobehavioral condition which has been classically described as having two nutritional stages: poor feeding, frequently with failure to thrive (FTT) in infancy (Stage 1), followed by hyperphagia leading to obesity in later childhood (Stage 2). We have longitudinally followed the feeding behaviors of individuals with PWS and found a much more gradual and complex progression of the nutritional phases than the traditional two stages described in the literature. Therefore, this study characterizes the growth, metabolic, and laboratory changes associated with the various nutritional phases of PWS in a large cohort of subjects. We have identified a total of seven different nutritional phases, with five main phases and sub-phases in phases 1 and 2. Phase 0 occurs in utero, with decreased fetal movements and growth restriction compared to unaffected siblings. In phase 1 the infant is hypotonic and not obese, with sub-phase 1a characterized by difficulty feeding with or without FTT (ages birth-15 months; median age at completion: 9 months). This phase is followed by sub-phase 1b when the infant grows steadily along a growth curve and weight is increasing at a normal rate (median age of onset: 9 months; age quartiles 5-15 months). Phase 2 is associated with weight gain-in sub-phase 2a the weight increases without a significant change in appetite or caloric intake (median age of onset 2.08 years; age quartiles 20-31 months;), while in sub-phase 2b the weight gain is associated with a concomitant increased interest in food (median age of onset: 4.5 years; quartiles 3-5.25 years). Phase 3 is characterized by hyperphagia, typically accompanied by food-seeking and lack of satiety (median age of onset: 8 years; quartiles 5-13 years). Some adults progress to phase 4 which is when an individual who was previously in phase 3 no longer has an insatiable appetite and is able to feel full. Therefore, the progression of the nutritional phases in PWS is much more complex than previously recognized. Awareness of the various phases will aid researchers in unraveling the pathophysiology of each phase and provide a foundation for developing rational therapies. Counseling parents of newly diagnosed infants with PWS as to what to expect with regard to these nutritional phases may help prevent or slow the early-onset of obesity in this syndrome. Copyright © 2011 Wiley-Liss, Inc.
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                Author and article information

                Journal
                rbtcc
                Revista Brasileira de Terapia Comportamental e Cognitiva
                Rev. bras. ter. comport. cogn.
                Associação Brasileira de Psicoterapia e Medicina Comportamental (São Paulo, SP, Brazil )
                1517-5545
                April 2014
                : 16
                : 1
                : 30-40
                Affiliations
                [02] orgnameUniversidade de São Paulo orgdiv1Faculdade de Medicina
                [03] orgnameUniversidade de São Paulo
                [01] orgnameUniversidade Presbiteriana Mackenzie
                Article
                S1517-55452014000100004 S1517-5545(14)01600100004
                ba6d67a2-520a-4feb-bf9f-8604a521492b

                http://creativecommons.org/licenses/by/4.0/

                History
                : 03 October 2013
                : 28 August 2013
                : 03 January 2014
                Page count
                Figures: 0, Tables: 0, Equations: 0, References: 44, Pages: 11
                Product

                SciELO Periódicos Eletrônicos em Psicologia

                Categories
                Artigos originais

                Hyperphagia,Problemas de comportamento,Manejo,Hiperfagia,Prader Willi,Behaviour problems,Management,Síndrome de Prader Willi

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