<?xml version="1.0" encoding="ISO-8859-1"?><article xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance">
<front>
<journal-meta>
<journal-id>1139-7632</journal-id>
<journal-title><![CDATA[Pediatría Atención Primaria]]></journal-title>
<abbrev-journal-title><![CDATA[Rev Pediatr Aten Primaria]]></abbrev-journal-title>
<issn>1139-7632</issn>
<publisher>
<publisher-name><![CDATA[Asociación Española de Pediatría de Atención Primaria]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S1139-76322021000200018</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Cribado neonatal de la atrofia muscular espinal: el momento es ahora]]></article-title>
<article-title xml:lang="en"><![CDATA[Neonatal screening for spinal muscular atrophy: the time is now]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[López Granados]]></surname>
<given-names><![CDATA[Lucía]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Boemer]]></surname>
<given-names><![CDATA[François]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Pereira]]></surname>
<given-names><![CDATA[Tatiana]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Servais]]></surname>
<given-names><![CDATA[Laurent]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Morales]]></surname>
<given-names><![CDATA[Ingrid]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Office de la Naissance et de l'Enfance (ONE)  ]]></institution>
<addr-line><![CDATA[Bruselas ]]></addr-line>
<country>Bélgica</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Centro Hospitalario Universitario de Lieja. Universidad de Lieja Departamento de Genética Humana Laboratorio de Bioquímica Genética]]></institution>
<addr-line><![CDATA[Lieja ]]></addr-line>
<country>Bélgica</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Office de la Naissance et de l'Enfance Gestión de programas de salud ]]></institution>
<addr-line><![CDATA[Bruselas ]]></addr-line>
<country>Bélgica</country>
</aff>
<aff id="Af4">
<institution><![CDATA[,Centro Hospitalario Universitario de Lieja. Departamento de Pediatría División de Neurología pediátrica. Centro de referencia de Enfermedades Neuromusculares]]></institution>
<addr-line><![CDATA[Lieja ]]></addr-line>
<country>Bélgica</country>
</aff>
<aff id="Af5">
<institution><![CDATA[,Office de la Naissance et de l'Enfance (ONE)  ]]></institution>
<addr-line><![CDATA[Bruselas ]]></addr-line>
<country>Bélgica</country>
</aff>
<aff id="Af6">
<institution><![CDATA[,Universidad de Oxford MDUK Neuromuscular Centre ]]></institution>
<addr-line><![CDATA[Oxford ]]></addr-line>
<country>Reino Unido</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>06</month>
<year>2021</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>06</month>
<year>2021</year>
</pub-date>
<volume>23</volume>
<numero>90</numero>
<fpage>211</fpage>
<lpage>214</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.isciii.es/scielo.php?script=sci_arttext&amp;pid=S1139-76322021000200018&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.isciii.es/scielo.php?script=sci_abstract&amp;pid=S1139-76322021000200018&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.isciii.es/scielo.php?script=sci_pdf&amp;pid=S1139-76322021000200018&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[ Resumen La atrofia muscular espinal (AME) es la enfermedad neurodegenerativa más común en la infancia. La aprobación reciente de nuevas terapias efectivas ha justificado la implementación desde hace dos años de un programa piloto de cribado neonatal en la Federación Valonia Bruselas (FWB). Se describe el procedimiento de cribado neonatal utilizado actualmente para detección para la AME en recién nacidos en el sur de Bélgica. El coste del cribado es de 3,10 &#8364; por niño. Si se mantiene esta configuración, representa un coste anual de 181 000 &#8364; (por aproximadamente 60 000 nacimientos anuales en FWB). En el contexto de contar con un método de cribado neonatal fiable, con un coste económico moderado y la posibilidad de un tratamiento inmediato viable, los autores recomiendan la inclusión y financiación del despistaje de la atrofia muscular espinal en la lista de enfermedades incluidas oficialmente en el marco del cribado neonatal.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[ Abstract Spinal muscular atrophy (SMA) is the most common neurodegenerative disease in childhood. The recent approval of new effective therapies has justified the implementation of a pilot neonatal screening program in the Federation Wallonia Brussels (FWB). The neonatal screening procedure currently used for screening for SMA in newborns in southern Belgium is described. The cost of screening is &#8364; 3.10 per child. If this configuration is maintained, it represents an annual cost of &#8364; 181,000 (for approximately 60,000 annual births in FWB). In the context of having a reliable neonatal screening method, with a moderate economic cost and the possibility of a viable immediate treatment, the authors recommend the inclusion and financing of the screening for the spinal muscular atrophy in the list of diseases officially included in the framework of the neonatal screening program.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Atrofia muscular espinal]]></kwd>
<kwd lng="es"><![CDATA[Cribado neonatal]]></kwd>
<kwd lng="es"><![CDATA[Enfermedad de Werdnig-Hoffman]]></kwd>
<kwd lng="es"><![CDATA[SMN1]]></kwd>
<kwd lng="en"><![CDATA[Neonatal screening]]></kwd>
<kwd lng="en"><![CDATA[SMN1]]></kwd>
<kwd lng="en"><![CDATA[Spinal muscular atrophy]]></kwd>
<kwd lng="en"><![CDATA[Werdnig-Hoffman disease]]></kwd>
</kwd-group>
</article-meta>
</front><back>
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