Titre :
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Effect of Expanded newborn screening for biochemical genetic disorders on child outcomes and Parental Stress. (2003)
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Auteurs :
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Susan-E WAISBREN ;
Simone ALBERS ;
Steve AMATO ;
Mary AMPOLA ;
Thomas-G BREWSTER ;
Laurie DEMMER ;
Roger-B EATON ;
Robert GREENSTEIN ;
Mark KORSON ;
Cecilia LARSON ;
Harvey-L LEVY ;
Deborah MARSDEN ;
Michael MSALL ;
Edwin-W NAYLOR ;
Siegfried PUESCHEL ;
Margretta SEASHORE ;
Vivian-E SHIH ;
Children's Hospital Boston. Mass. USA ;
New England Medical Center. Boston. USA ;
New England Newborn Screening Program of the University of Massachusetts Medical School. Jamaica Plain. USA ;
Rhode Island Hospital. Providence. USA
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Type de document :
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Article
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Dans :
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JAMA - Journal of the american medical association (vol. 290, n° 19, 2003)
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Pagination :
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2564-2572
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Langues:
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Anglais
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Mots-clés :
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Génétique
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Nouveau né
;
Homme
;
Dépistage
;
Innovation technologique
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Enfant
;
Pronostic
;
Stress
;
Maladie héréditaire
;
Relation parent enfant
;
Parent
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Résumé :
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[BDSP. Notice produite par INIST-CNRS BR0xGRWR. Diffusion soumise à autorisation]. Context : Tandem mass spectrometry now allows newborn screening for more than 20 biochemical genetic disorders. Questions about the effectiveness and risks of expanded newborn screening for biochemical genetic disorders need to be answered prior to its widespread acceptance as a state-mandated program. Objectives : To compare newborn identification by expanded screening with clinical identification of biochemical genetic disorders and to assess the impact on families of a false-positive screening result compared with a normal result in the expanded newborn screening program. Design Prospective study involving an inception cohort of newly diagnosed children. Setting Massachusetts, Maine, and a private laboratory in Pennsylvania with expanded newborn screening ; other New England states with limited screening. Participants Families of 50 affected children identified through expanded newborn screening (82% of eligible cases) ; 33 affected children identified clinically (97% of eligible cases) ; 94 screened children with false-positive results (75% of eligible cases) ; and 81 screened children with normal results (63% of eligible cases). Main Outcome Measures : Child's health and development and the Parental Stress Index. Results Within the first 6 months of life, 28% of children identified by newborn screening compared with 55% of clinically identified children required hospitalization (P=02). One child identified by newborn screening compared with 8 (42%) identified clinically performed in the range of mental retardation (P<. mothers in the screened group reported lower overall stress on parental index than clinically identified p children with false-positive results compared normal were twice as likely to experience hospitalization vs respectively of screening attained higher scores and parent-child dysfunction subscale conclusions : expanded newborn may lead improved health outcomes for affected their parents. however place families at risk increased dysfunction.>
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