RESUMEN
Angelman syndrome (AS) is a neurogenetic disorder characterized by severe developmental delay with absence of speech, happy disposition, frequent laughter, hyperactivity, stereotypies, ataxia and seizures with specific EEG abnormalities. There is a 10-15% of patients with an AS phenotype whose genetic cause remains unknown (Angelman-like syndrome, AS-like). Whole-exome sequencing (WES) was performed on a cohort of 14 patients with clinical features of AS and no molecular diagnosis. As a result, we identified 10 de novo and 1 X-linked pathogenic/likely pathogenic variants in 10 neurodevelopmental genes (SYNGAP1, VAMP2, TBL1XR1, ASXL3, SATB2, SMARCE1, SPTAN1, KCNQ3, SLC6A1 and LAS1L) and one deleterious de novo variant in a candidate gene (HSF2). Our results highlight the wide genetic heterogeneity in AS-like patients and expands the differential diagnosis.
Asunto(s)
Síndrome de Angelman/genética , Secuenciación del Exoma/métodos , Redes Reguladoras de Genes , Adolescente , Adulto , Niño , Femenino , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Proteínas de Choque Térmico , Humanos , Lactante , Masculino , Proteínas de Unión a la Región de Fijación a la Matriz/genética , Receptores Citoplasmáticos y Nucleares/genética , Proteínas Represoras/genética , Factores de Transcripción/genética , Proteína 2 de Membrana Asociada a Vesículas/genética , Adulto JovenRESUMEN
BACKGROUND: Language disorder (LD) is a neurodevelopmental disorder, and early diagnosis has an impact on speech therapy practice. The aim of this work is to test the usefulness of the Cognitive and Language scales of the Bayley-III in the early diagnosis of LD. METHOD: In a longitudinal study, a clinical sample of 187 children with diagnostic hypothesis of communication disorders at 4.5 years was assessed with the Bayley-III before age 3.5 years and subsequently with other scales of different psychological and psycholinguistic functions. RESULTS: The results indicate that children with LD scored significantly lower than their control groups in all subtests and compounds of the Bayley-III. Additionally, low scores on the Language composite in the Bayley-III predicted lower scores in the Auditory-vocal Channel of the ITPA. A significant correlation was obtained between the Cognitive Scale of the Bayley-III and the General Cognitive Scale of the MSCA and the Mental Processing Composite of the K-ABC. CONCLUSIONS: We can draw the conclusion that the Cognitive and Language scales of the Bayley-III are a useful instrument for early diagnosis of LD, and can also discriminate more severe forms of LD.
Asunto(s)
Diagnóstico Precoz , Trastornos del Lenguaje/diagnóstico , Desarrollo Infantil , Preescolar , Femenino , Humanos , Lactante , Estudios Longitudinales , Masculino , Pruebas Neuropsicológicas , Estudios RetrospectivosRESUMEN
BACKGROUND: Language disorder (LD) is a neurodevelopmental disorder, and early diagnosis has an impact on speech therapy practice. The aim of this work is to test the usefulness of the Cognitive and Language scales of the Bayley-III in the early diagnosis of LD. METHOD: In a longitudinal study, a clinical sample of 187 children with diagnostic hypothesis of communication disorders at 4.5 years was assessed with the Bayley-III before age 3.5 years and subsequently with other scales of different psychological and psycholinguistic functions. RESULTS: The results indicate that children with LD scored significantly lower than their control groups in all subtests and compounds of the Bayley-III. Additionally, low scores on the Language composite in the Bayley-III predicted lower scores in the Auditory-vocal Channel of the ITPA. A significant correlation was obtained between the Cognitive Scale of the Bayley-III and the General Cognitive Scale of the MSCA and the Mental Processing Composite of the K-ABC. CONCLUSIONS: We can draw the conclusion that the Cognitive and Language scales of the Bayley-III are a useful instrument for early diagnosis of LD, and can also discriminate more severe forms of LD
ANTECEDENTES: el trastorno del lenguaje (TL) es un trastorno del desarrollo neurológico. El objetivo de este trabajo es comprobar la utilidad de las escalas Cognitiva y de Lenguaje de Bayley-III en el diagnóstico precoz de los TL. MÉTODO: una muestra clínica de 187 niños con hipótesis diagnóstica de trastorno de la comunicación a los 4,5 años fue evaluada con Bayley-III antes de los 3,5 años y posteriormente con otras escalas de evaluación de diferentes funciones psicológicas y psicolingüísticas en un estudio longitudinal. RESULTADOS: los resultados indican que los niños con TL obtuvieron puntuaciones significativamente inferiores a sus grupos control en todos los subtests y compuestos de Bayley-III. Además, puntuaciones bajas en el compuesto de Lenguaje de Bayley-III predecían puntuaciones inferiores en el Canal Auditivo-vocal del ITPA. Se halló una correlación significativa entre la Escala Cognitiva del Bayley-III y la Escala General Cognitiva de MSCA y con la de Procesamiento Mental Compuesto del K.ABC. CONCLUSIONES: concluimos que las escalas Cognitiva y de Lenguaje de Bayley-III son un instrumento útil en el diagnóstico precoz de los TL, capaces además de discriminar sus formas más graves