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Bermejo Alegría, Rosa María

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Bermejo Alegría, Rosa María
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Universidad de Murcia. Departamento de Personalidad, Evaluación y TratamientoPsicológicos
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  • Publication
    Open Access
    Perfil neuropsicológico y del lenguaje de las personas con síndrome de Arboleda-Tham: Revisión de alcance
    (Elsevier, 2026) Peñalver García, Dolores María; Bermejo Alegría, Rosa María; Cabello Luque, Francisco; Métodos de Investigación y Diagnóstico en Educación
    Arboleda-Tham syndrome (KAT6A) is a rare genetic condition associated with neurodevelopmental disorders. Given the limited characterization of its neurocognitive and communicative profile, this study aimed to synthesize the available scientific evidence on this topic and identify gaps in the literature. A scoping review was conducted, and seven studies were included. The findings revealed intellectual disability, global developmental delay, and severe communicative impairment. Verbal apraxia/dyspraxia was frequently present. The studies predominantly presented used single-case or cross-sectional designs and variable reporting quality, highlighting a lack of information on the psychometric properties of the tests used. KAT6A syndrome presents a heterogeneous neuropsychological and communicative profile, with language impairment. Current evidence is limited and comes mainly from descriptive studies with small samples. Future research with longitudinal designs and multidisciplinary assessments is needed to further characterize the profile and support specific interventions