Desarrollo motor grueso en mutación CHD8: reporte de caso de una niña con trastorno del desarrollo intelectual, espectro autismo y macrocefalia
Gross motor development in CHD8 mutation: case report of a girl with intellectual developmental disorder, autism spectrum disorder, and macrocephalyBarra lateral del artículo
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El presente reporte de caso describe el desarrollo motor grueso de una niña de 17 meses diagnosticada con un trastorno del desarrollo intelectual, autismo y macrocefalia, asociado a una mutación en el gen CHD8. La valoración con la Escala de Evaluación del Desarrollo Psicomotor, evidenció retraso psicomotor. En las áreas como la motora, caminó con apoyo de la mano; en lenguaje y social, logró reaccionar a requerimientos verbales y en coordinación, juntó las manos en la línea media. Estos resultados evidencian una edad base de 9 meses.
This case report describes the gross motor development of a 17-month-old girl diagnosed with an intellectual developmental disorder, autism, and macrocephaly, associated with a mutation in the CHD8 gene. Assessment using the Psychomotor Developmental Assessment Scale revealed psychomotor delay. In motor areas, she walked with hand support; in language and social skills, she was able to respond to verbal requests; and in coordination, she brought her hands together along the midline. These results indicate a base age of 9 months.
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