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      Desempenho de crianças com fenilcetonúria no Teste de Screening de Desenvolvimento Denver - II Translated title: Performance of children with phenylketonuria in the Developmental Screening Test - Denver II

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          Abstract

          TEMA: desempenho de crianças com PKU no Teste de Screening de Desenvolvimento Denver - II. Introdução: a fenilcetonúria é uma desordem autossômica recessiva resultante da mutação do gene localizado no cromossomo 12q22.24.1. OBJETIVO: caracterizar o desempenho de crianças com fenilcetonúria diagnosticadas e tratadas precocemente por meio do Teste de Screening de Desenvolvimento Denver II e dos níveis de fenilalanina sanguíneos. MÉTODO: participaram 20 crianças, dez com fenilcetonúria, diagnosticadas e tratadas desde o nascimento, de idade cronológica entre três a seis anos, e dez crianças do grupo típico, pareadas quanto ao sexo, idade e nível socioeconômico. Os níveis sanguíneos e as informações neurológicas, psicológicas e sociais foram obtidas no banco de dados do Programa de Triagem Neonatal para Erros Inatos do Metabolismo. A avaliação constou da aplicação do Teste de Screening de Desenvolvimento Denver-II. Utilizou-se estatística descritiva e aplicação do teste estatístico de Mann Whitney para a caracterização das habilidades. Para as medições dos níveis plasmáticos sanguíneos de fenilalanina considerou-se os valores abaixo de 2mg/dL, acima de 4mg/dL, os valores de referência entre 2 e 4mg/dL, de todos os exames realizados no decorrer da vida dos participantes, os valores mínimos e máximos e o valor obtido na época da avaliação fonoaudiológica. Resultado: A comparação entre os grupos foi estatisticamente significante nas áreas pessoal-social e de linguagem. CONCLUSÃO: crianças com fenilcetonúria diagnosticadas e tratadas precocemente apresentaram prejuízo nas áreas pessoal-social e de linguagem e, mesmo com o acompanhamento periódico, apresentaram dificuldades para manter os níveis de normalidade de fenilalanina, embora realizassem o tratamento recomendado.

          Translated abstract

          BACKGROUND: phenylketonuria is an autosomal recessive disorder resulting from the mutation of a gene located in chromosome 12q22-24.1. AIM: to describe the performance of children with classic phenylketonuria, who were diagnosed and treated early, in the Development Screening Test Denver - II. METHOD: participants were 20 children with phenylketonuria, ranging in age from 3 and 6 years, and 10 children with typical language development, paired by gender, age and socioeconomic level to the research group. The plasmatic phenylalanine measure and the neurological, psychological and social information were gathered in the data base of the Neonatal Screening Programs for Metabolic disorder. Assessment consisted on the application of the Development Screening Test Denver II. A descriptive statistical analysis and the Mann Whitney test were used in order to characterize the tested skills. For the measurements of the plasmatic phenylalanine blood levels the values considered for analysis were: below 2mg/dL, above 4mg/dL, reference values between 2 and 4mg/dL, of all exams performed during the participants'lives; maximum and minimum values and values obtained on the day of the screening application. RESULTS: comparison between the groups indicated statistically significant differences for the personal-social and language areas. CONCLUSION:children who were diagnosed and treated early for phenylketonuria present deficits in the personal-social and language areas. Also, even when receiving follow-up and undergoing treatment, these children presented difficulties in maintaining normal plasmatic phenylalanine levels.

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          Most cited references32

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          Manual de Normas Técnicas e Rotinas Operacionais do Programa Nacional de Triagem Neonatal

          (2002)
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            Prevalence of stimulant use for attentional dysfunction in children with phenylketonuria.

            Recent data suggest that children with phenylketonuria (PKU) and poor metabolic control may have an increased prevalence of attentional dysfunction. However, few formal studies have addressed this topic in detail. We reviewed the medical records of 38 school-aged children with early and continuously treated PKU to determine the prevalence of stimulant use for attentional dysfunction, and to determine the relationship between metabolic control and attentional symptoms. Twenty-six per cent of the PKU children used a stimulant medication for attentional dysfunction. This is significantly higher than in an age- and sex-matched control group consisting of children with type I diabetes mellitus (6.5%, p <0.006), and also considerably higher than population norms for attention deficit hyperactivity disorder (ADHD) (5%). We also found a significant relationship between phenylalanine levels and stimulant use or attentional symptoms. Mean plasma phenylalanine concentration was 486 micromol/L in the non-stimulant-using group and 792 micromol/L in the stimulant-using group (p <0.02). Mean phenylalanine concentration was 462 micromol/L in the group not reporting attentional symptoms, and was 702 micromol/L in the symptomatic group (p <0.05). Parents of the stimulant-using children felt that the stimulants were efficacious in treating their child's attentional symptoms. Stimulant use and parent reports of attentional dysfunction are quite common in our PKU patients and appear to be strongly related to higher phenylalanine concentrations.
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              Genotype-phenotype correlations analysis of mutations in the phenylalanine hydroxylase (PAH) gene.

              The aims of our research were to define the genotype-phenotype correlations of mutations in the phenylalanine hydroxylase (PAH) gene that cause phenylketonuria (PKU) among the Israeli population. The mutation spectrum of the PAH gene in PKU patients in Israel is described, along with a discussion on genotype-phenotype correlations. By using polymerase chain reaction/denaturing high-performance liquid chromatography (PCR/dHPLC) and DNA sequencing, we screened all exons of the PAH gene in 180 unrelated patients with four different PKU phenotypes [classic PKU, moderate PKU, mild PKU, and mild hyperphenylalaninemia (MHP)]. In 63.2% of patient genotypes, the metabolic phenotype could be predicted, though evidence is also found for both phenotypic inconsistencies among subjects with more than one type of mutation in the PAH gene. Data analysis revealed that about 25% of patients could participate in the future in (6R)-L: -erythro-5, 6, 7, 8-tetrahydrobiopterin (BH4) treatment trials according to their mutation genotypes. This study enables us to construct a national database in Israel that will serve as a valuable tool for genetic counseling and a prognostic evaluation of future cases of PKU.
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                Author and article information

                Contributors
                Role: ND
                Role: ND
                Journal
                pfono
                Pró-Fono Revista de Atualização Científica
                Pró-Fono R. Atual. Cient.
                Pró-Fono Produtos Especializados para Fonoaudiologia Ltda. (Barueri )
                0104-5687
                September 2010
                : 22
                : 3
                : 345-350
                Affiliations
                [1 ] Universidade de São Paulo Brazil
                Article
                S0104-56872010000300031
                10.1590/S0104-56872010000300031
                caeba8ac-27ed-42fa-be05-07aab2de7157

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

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                SciELO Brazil

                Self URI (journal page): http://www.scielo.br/scielo.php?script=sci_serial&pid=0104-5687&lng=en
                Categories
                AUDIOLOGY & SPEECH-LANGUAGE PATHOLOGY
                REHABILITATION

                Audiology,Physiotherapy
                Phenylketonuria,Infantile Development,Language,Assessement,Fenilcetonúria,Desenvolvimento Infantil,Linguagem,Avaliação

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