Eficacia de un test clínico como preselección de niños con sospecha de síndrome X frágil
Effectiveness of a clinical checklist in the preselection of children with suspicion of fragile X syndrome
I. Fernández Carvajala, A. Blanco Quirósa,
, J. Fernández Toralb, J.J. Tellería Orriolsa, M.J. Alonso Ramosa, A. Sanz Cantalapiedraa, J.F. Martín Rodríguezc, R. Palencia Luancesd
Autor para correspondencia
ablanco@ped.uva.es
Correspondencia: Área de Pediatría. Facultad de Medicina. Ramón y Cajal, 5. 47005 Valladolid
Correspondencia: Área de Pediatría. Facultad de Medicina. Ramón y Cajal, 5. 47005 Valladolid
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"apellidos" => "Palencia Luances" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">d</span>" "identificador" => "aff0020" ] ] ] ] "afiliaciones" => array:4 [ 0 => array:3 [ "entidad" => "Instituto de Biología Molecular y Genética (IBGM)" "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] 1 => array:3 [ "entidad" => "Unidad de Genética. Hospital Central de Oviedo" "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] 2 => array:3 [ "entidad" => "Área de Estadística. Universidad de Valladolid" "etiqueta" => "<span class="elsevierStyleSup">c</span>" "identificador" => "aff0015" ] 3 => array:3 [ "entidad" => "Servicio de Pediatría. Hospital Clínico de Valladolid" "etiqueta" => "<span class="elsevierStyleSup">d</span>" "identificador" => "aff0020" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "*" "correspondencia" => "Correspondencia: Área de Pediatría. Facultad de Medicina. Ramón y Cajal, 5. 47005 Valladolid" ] ] ] ] "titulosAlternativos" => array:1 [ "en" => array:1 [ "titulo" => "Effectiveness of a clinical checklist in the preselection of children with suspicion of fragile X syndrome" ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "fechaRecibido" => "2000-01-31" "fechaAceptado" => "2000-02-29" "PalabrasClave" => array:2 [ "es" => array:1 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Palabras clave" "identificador" => "xpalclavsec186630" "palabras" => array:6 [ 0 => "Síndrome X frágil" 1 => "Retraso mental" 2 => "Alteraciones de la conducta" 3 => "Mutaciones dinámicas" 4 => "Genética molecular" 5 => "Cromosoma X" ] ] ] "en" => array:1 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Key words" "identificador" => "xpalclavsec186631" "palabras" => array:6 [ 0 => "Fragile X syndrome" 1 => "Mental retardation" 2 => "Behaviour problems" 3 => "Dynamic mutations" 4 => "Molecular genetics" 5 => "X chro m osome" ] ] ] ] "tieneResumen" => true "resumen" => array:2 [ "es" => array:1 [ "resumen" => "<span class="elsevierStyleSectionTitle">Antecedentes</span><p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">El síndrome X frágil (SXF) es la causa hereditaria más frecuente de retraso mental. Puede diagnosticarse con técnicas de genética molecular, pero su variada expresión dificulta la sospecha clínica</p> <span class="elsevierStyleSectionTitle">Objetivo</span><p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">Se valora la utilidad de un test de seis criterios clínicos como método de preselección a los niños candidatos para estudio genético del síndrome</p> <span class="elsevierStyleSectionTitle">Pacientes y métodos</span><p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">Se estudiaron 70 pacientes varones entre 2 y 10 años, con retraso mental de causa desconocida, aplicándoseles un test con seis criterios clínicos (retraso mental, historia familiar de retraso mental, facies alargada, orejas grandes, conducta autística y déficit de atención) que se valoraron de 0 a 2 puntos. En todos se realizó estudio molecular del gen SXF usando reacción en cadena de la polimerasa y Southern-blot</p> <span class="elsevierStyleSectionTitle">Resultados</span><p id="spar0020" class="elsevierStyleSimplePara elsevierViewall">El estudio molecular confirmó la mutación complete (> 200 repeticiones CGG) en 14/70 (20 %) niños. La suma de 6 puntos en el test fue el límite más discriminativo y fue alcanzado por los 14 enfermos con mutación (100 %), pero sólo por 2 de 56 casos (3,5 %) sin mutación. El mejor modelo diagnóstico fue la asociación del retraso mental, deficiencia de atención e hiperactividad, historia familiar de retraso mental y orejas grandes seguido de la facies alargada y la conducta autista</p> <span class="elsevierStyleSectionTitle">Conclusión</span><p id="spar0025" class="elsevierStyleSimplePara elsevierViewall">Un test clínico de 6 parámetros facilita la preselección de niños con sospecha de SXF para ser confirmados luego con técnicas de genética molecular</p>" ] "en" => array:1 [ "resumen" => "<span class="elsevierStyleSectionTitle">Background</span><p id="spar0030" class="elsevierStyleSimplePara elsevierViewall">Fragile X syndrome (FXS) is the most frequent hereditary cause of mental retardation. It can be diagnosed by molecular genetic techniques, but clinical suspicion is made less likely by it variable expression</p> <span class="elsevierStyleSectionTitle">Objective</span><p id="spar0035" class="elsevierStyleSimplePara elsevierViewall">To assess the effectiveness of a six-item checklist in the preselection of children who are candidates for FXS genetic study</p> <span class="elsevierStyleSectionTitle">Material and methods</span><p id="spar0040" class="elsevierStyleSimplePara elsevierViewall">W e studied 70 male patients aged between 2 and 10 years with mental retardation of unknown cause. In all patients a checklist with six clinical criteria (mental retardation, history of familial mental retardation, long face, large ears, autistic-like behaviour, and attention deficit disorder with hyperactivity) measured from 0-2 points was applied and molecular genetic studies using polymerase chain reaction and Southern-blot were performed</p> <span class="elsevierStyleSectionTitle">Results</span><p id="spar0045" class="elsevierStyleSimplePara elsevierViewall">In 14 of the 70 children (20 %) molecular study confirmed full mutation (> 200 CGG repeats). A score of six points in the test had the greatest discriminatory power and was reached by 14 patients (100 %) with mutation, but only by 2 of 56 patients (3.5 %) without mutation. The most accurate diagnostic model was the association of mental retardation, attention deficit disorder with hyperactivity, large ears and a history of familial mental retardation followed by long face and autistic-like behaviour</p> <span class="elsevierStyleSectionTitle">Conclusion</span><p id="spar0050" class="elsevierStyleSimplePara elsevierViewall">The six-item checklist improved the preselection of children with suspicion of FXS, which was later confirmed by molecular genetic techniques</p>" ] ] "NotaPie" => array:1 [ 0 => array:1 [ "nota" => "<p class="elsevierStyleNotepara">Trabajo realizado parcialmente con una ayuda a la investigación de la Junta de Castilla y León (ref. VA 04/95)</p>" ] ] "bibliografia" => array:2 [ "titulo" => "Bibliografía" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0005" "bibliografiaReferencia" => array:36 [ 0 => array:3 [ "identificador" => "bib0005" "etiqueta" => "1." 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| año/Mes | Html | Total | |
|---|---|---|---|
| 2024 Noviembre | 13 | 13 | 26 |
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| 2022 Febrero | 14 | 40 | 54 |
| 2022 Enero | 26 | 64 | 90 |
| 2021 Diciembre | 31 | 47 | 78 |
| 2021 Noviembre | 19 | 48 | 67 |
| 2021 Octubre | 20 | 41 | 61 |
| 2021 Septiembre | 20 | 44 | 64 |
| 2021 Agosto | 20 | 35 | 55 |
| 2021 Julio | 21 | 56 | 77 |
| 2021 Junio | 25 | 54 | 79 |
| 2021 Mayo | 22 | 21 | 43 |
| 2021 Abril | 51 | 59 | 110 |
| 2021 Marzo | 63 | 40 | 103 |
| 2021 Febrero | 67 | 22 | 89 |
| 2021 Enero | 39 | 28 | 67 |
| 2020 Diciembre | 20 | 15 | 35 |
| 2020 Noviembre | 21 | 21 | 42 |
| 2020 Octubre | 24 | 21 | 45 |
| 2020 Septiembre | 29 | 14 | 43 |
| 2020 Agosto | 15 | 11 | 26 |
| 2020 Julio | 39 | 21 | 60 |
| 2020 Junio | 19 | 14 | 33 |
| 2020 Mayo | 32 | 25 | 57 |
| 2020 Abril | 34 | 12 | 46 |
| 2020 Marzo | 19 | 20 | 39 |
| 2020 Febrero | 36 | 11 | 47 |
| 2020 Enero | 48 | 14 | 62 |
| 2019 Diciembre | 38 | 27 | 65 |
| 2019 Noviembre | 21 | 8 | 29 |
| 2019 Octubre | 13 | 12 | 25 |
| 2019 Septiembre | 23 | 31 | 54 |
| 2019 Agosto | 30 | 8 | 38 |
| 2019 Julio | 17 | 33 | 50 |
| 2019 Junio | 33 | 42 | 75 |
| 2019 Mayo | 36 | 53 | 89 |
| 2019 Abril | 69 | 43 | 112 |
| 2019 Marzo | 22 | 15 | 37 |
| 2019 Febrero | 20 | 9 | 29 |
| 2019 Enero | 18 | 14 | 32 |
| 2018 Diciembre | 18 | 12 | 30 |
| 2018 Noviembre | 20 | 21 | 41 |
| 2018 Octubre | 26 | 15 | 41 |
| 2018 Septiembre | 16 | 7 | 23 |
| 2018 Agosto | 2 | 0 | 2 |
| 2018 Julio | 1 | 0 | 1 |
| 2018 Mayo | 3 | 0 | 3 |
| 2018 Abril | 10 | 0 | 10 |
| 2018 Marzo | 10 | 0 | 10 |
| 2018 Febrero | 9 | 0 | 9 |
| 2018 Enero | 10 | 0 | 10 |
| 2017 Diciembre | 4 | 0 | 4 |
| 2017 Noviembre | 13 | 0 | 13 |
| 2017 Octubre | 12 | 0 | 12 |
| 2017 Septiembre | 8 | 0 | 8 |
| 2017 Agosto | 6 | 0 | 6 |
| 2017 Julio | 10 | 1 | 11 |
| 2017 Junio | 17 | 8 | 25 |
| 2017 Mayo | 22 | 10 | 32 |
| 2017 Abril | 10 | 4 | 14 |
| 2017 Marzo | 12 | 5 | 17 |
| 2017 Febrero | 12 | 5 | 17 |
| 2017 Enero | 6 | 3 | 9 |
| 2016 Diciembre | 21 | 8 | 29 |
| 2016 Noviembre | 30 | 6 | 36 |
| 2016 Octubre | 31 | 8 | 39 |
| 2016 Septiembre | 27 | 10 | 37 |
| 2016 Agosto | 17 | 5 | 22 |
| 2016 Julio | 13 | 6 | 19 |
| 2016 Marzo | 3 | 7 | 10 |
| 2016 Febrero | 2 | 0 | 2 |
| 2016 Enero | 3 | 0 | 3 |
| 2015 Diciembre | 2 | 0 | 2 |
| 2015 Octubre | 3 | 7 | 10 |
| 2015 Septiembre | 2 | 0 | 2 |
| 2015 Agosto | 2 | 7 | 9 |
| 2015 Julio | 10 | 8 | 18 |
| 2015 Junio | 9 | 2 | 11 |
| 2015 Mayo | 15 | 0 | 15 |
| 2015 Abril | 12 | 8 | 20 |
| 2015 Marzo | 11 | 0 | 11 |
| 2015 Febrero | 14 | 3 | 17 |
| 2015 Enero | 12 | 1 | 13 |
| 2014 Diciembre | 20 | 2 | 22 |
| 2014 Noviembre | 22 | 2 | 24 |
| 2014 Octubre | 25 | 1 | 26 |
| 2014 Septiembre | 25 | 4 | 29 |
| 2014 Agosto | 23 | 2 | 25 |
| 2014 Julio | 31 | 1 | 32 |
| 2014 Junio | 56 | 1 | 57 |
| 2014 Mayo | 48 | 3 | 51 |
| 2014 Abril | 39 | 3 | 42 |
| 2014 Marzo | 40 | 8 | 48 |
| 2014 Febrero | 27 | 7 | 34 |
| 2014 Enero | 33 | 7 | 40 |
| 2013 Diciembre | 29 | 10 | 39 |
| 2013 Noviembre | 28 | 5 | 33 |
| 2013 Octubre | 36 | 9 | 45 |
| 2013 Septiembre | 24 | 10 | 34 |
| 2013 Agosto | 24 | 10 | 34 |
| 2013 Julio | 20 | 5 | 25 |
| 2013 Junio | 2 | 3 | 5 |
| 2013 Mayo | 3 | 2 | 5 |
| 2013 Abril | 5 | 5 | 10 |
| 2013 Marzo | 4 | 3 | 7 |
| 2013 Febrero | 24 | 2 | 26 |
| 2013 Enero | 5 | 2 | 7 |
| 2012 Diciembre | 2 | 2 | 4 |
| 2012 Noviembre | 2 | 2 | 4 |
| 2012 Octubre | 1 | 0 | 1 |
| 2012 Septiembre | 4 | 0 | 4 |
| 2012 Agosto | 1 | 0 | 1 |
| 2001 Marzo | 1087 | 0 | 1087 |
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