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Developmental trajectory of a toddler with PACS1 syndrome: a longitudinal descriptive case study

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dc.contributor.authorMartínez Castilla, Pastora
dc.contributor.authorCampos, Ruth
dc.contributor.authorNieto, Carmen
dc.contributor.funderMinisterio de Ciencia e Innovación
dc.date.accessioned2025-10-24T09:40:00Z
dc.date.available2025-10-24T09:40:00Z
dc.date.issued2025-03-27
dc.descriptionThis is the Accepted Manuscript of an article published by Taylor & Francis in "International Journal of Developmental Disabilities, 27 marzo 2025, available online: https://doi.org/10.1080/20473869.2025.2483274
dc.descriptionEste es el manuscrito aceptado de un artículo publicado por Taylor & Francis en "International Journal of Developmental Disabilities" 27 marzo 2025, disponible en línea: https://doi.org/10.1080/20473869.2025.2483274
dc.descriptionFinanciación: This study received support from project PID2020-117087GB-I00, financed by the Spanish Ministry of Science and Innovation. MICIU
dc.description.abstractObjectives PACS1 syndrome is a rare genetic neurodevelopmental disorder first described in 2012. Despite its severe impact on both affected individuals and their families, to date, there have been no detailed characterizations of the developmental trajectory of children with PACS1 syndrome. Our work aimed to fill this gap. It also sought to raise awareness of this syndrome. Methods A 24-month-old boy with PACS1 syndrome was longitudinally assessed every 6 months until 48 months of age. His cognitive, motor, linguistic and socio-communicative development, as well as his adaptative behaviour and sensory profile, were assessed using different tools. At 51 months, symptoms compatible with Autism Spectrum Disorder (ASD) were also explored. Results Delays were observed in all the areas assessed but no regression was noticed. Strong difficulties were observed in communication and language. The most notable developmental progression was seen in socialization. Yet, symptomatology of ASD was also observed. Conclusions Consistent results were obtained through the evaluation tools used in the study, but slight differences were also noticed, highlighting the need for a comprehensive battery of different assessment methods. Raise in linguistic development was concurrent to an intervention aimed at promoting parents’ sensitive response to their child’s behaviour.en
dc.description.provenanceMade available in DSpace on 2025-10-24T09:40:00Z (GMT). No. of bitstreams: 1 Martínez-Castilla et al 2025 PACS1_PASTORA MARTINEZ CAS.pdf: 404458 bytes, checksum: 8a7fc99ce2394e9ea7aae29d597cd686 (MD5) Previous issue date: 2025-03-27en
dc.description.versionversión final
dc.identifier.citationMartínez-Castilla, P., Campos, R., & Nieto, C. (2025). Developmental trajectory of a toddler with PACS1 syndrome: a longitudinal descriptive case study. International Journal of Developmental Disabilities, 1–12. https://doi.org/10.1080/20473869.2025.2483274
dc.identifier.doihttps://doi.org/10.1080/20473869.2025.2483274
dc.identifier.issn2047-3869
dc.identifier.urihttps://hdl.handle.net/20.500.14468/30597
dc.journal.titleInternational Journal of Developmental Disabilities
dc.language.isoen
dc.page.final12
dc.page.initial1
dc.publisherTaylor & Francis
dc.relation.centerFacultad de Psicología
dc.relation.departmentPsicología Evolutiva y de la Educación
dc.relation.isreferencedbyhttps://doi.org/10.21950/TS4ITR
dc.relation.projectidinfo:eu-repo/grantAgreement/MICIU/Plan Estatal de Investigación Científica y Técnica y de Innovación 2017-2020/PID2020-117087GB-I00/ES/TRAYECTORIAS DEL DESARROLLO EN BEBES EN RIESGO DE PRESENTAR AUTISMO: PROCESOS DE ESPECIALIZACION NEUROCOGNITIVA, INTERACCION TEMPRANA Y RESULTADOS FENOTIPICOS
dc.rightsinfo:eu-repo/semantics/openAccess
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/deed.es
dc.subject61 Psicología
dc.subject.keywordsACS1 syndromeen
dc.subject.keywordsdevelopmental trajectoryen
dc.subject.keywordslongitudinal case studyen
dc.subject.keywordslanguage difficultiesen
dc.subject.keywordsevaluation toolsen
dc.titleDevelopmental trajectory of a toddler with PACS1 syndrome: a longitudinal descriptive case studyen
dc.typeartículoes
dc.typejournal articleen
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relation.isAuthorOfPublication.latestForDiscovery8af55ee5-ea37-48ff-8243-9723df7f3e22
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