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Family history of FXTAS is associated with age-related cognitive-linguistic decline among mothers with the FMR1 premutation.
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In: Journal of neurodevelopmental disorders, vol 14, iss 1 (2022)
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| 2 |
Pragmatic Profiles of Adults with Fragile X Syndrome and Williams Syndrome
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In: Brain Sciences; Volume 12; Issue 3; Pages: 385 (2022)
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Behavior Problems and Social Competence in Fragile X Syndrome: A Systematic Review
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In: Genes; Volume 13; Issue 2; Pages: 280 (2022)
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Analysis of a Repetitive Language Coding System: Comparisons between Fragile X Syndrome, Autism, and Down Syndrome
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In: Brain Sciences; Volume 12; Issue 5; Pages: 575 (2022)
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Pragmatic profiles of adults with Fragile X syndrome and Williams syndrome
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An Examination of Family Dynamics, Parental Responsivity, and Child Communication in Fragile X Syndrome
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Concurrent Associations between Expressive Language Ability and Independence in Adolescents and Adults with Fragile X Syndrome.
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In: Brain sciences, vol 11, iss 9 (2021)
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| 8 |
Concurrent Associations between Expressive Language Ability and Independence in Adolescents and Adults with Fragile X Syndrome.
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In: Brain sciences, vol 11, iss 9 (2021)
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| 9 |
Concurrent Associations between Expressive Language Ability and Independence in Adolescents and Adults with Fragile X Syndrome
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In: Brain Sciences ; Volume 11 ; Issue 9 (2021)
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| 10 |
Características de lenguaje oral y escrito en Síndrome de X-Frágil ; Oral and written language characteristics in X-Fragile Syndrome
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Abstract:
El síndrome del cromosoma X frágil (SXF) es uno de los síndromes genéticos más frecuente causante de discapacidad intelectual, que se produce principalmente en varones. La mayoría de las personas con síndrome XFrágil adquieren el lenguaje oral, y en algunas ocasiones también dominan el lenguaje escrito, pero la adquisición inicial de las palabras se retrasa significativamente, y por esto, el desarrollo del lenguaje oral y escrito se encuentra retrasado. El objetivo de este estudio fue conocer la percepción de los padres sobre estos déficits. Participaron 8 familias de niños, adolescentes y adultos con SXF que fueron evaluados a través de la escala de valoración del lenguaje del test CELF. Los resultados indican que la mayoría de padres manifiestan problemas en el desarrollo del lenguaje oral y una especial dificultad en el comienzo de la lectoescritura. Ambos factores parecen venir muy determinados, además, por el nivel de atención. Estos datos avalan la importancia de trabajar el lenguaje en todas sus vertientes durante todo el ciclo vital de la persona con SXF. ; Fragile X syndrome (Fragile X syndrome) is one of the most common genetic syndromes causing intellectual disability, occurring mainly in males. Most people with Fragile X syndrome acquire oral language, and sometimes also master written language, but the initial acquisition of words is significantly delayed, and therefore, the development of oral and written language is delayed. The aim of this study was to know the parents’ perception of these deficits. Eight families of children, adolescents and adults with SXF who were evaluated by means of the language assessment scale of the CELF test participated in the study. The results indicate that the majority of parents show problems in oral language development and a special difficulty in the beginning of reading and writing. Both factors seem to be very much determined, in addition, by the level of attention. These data support the importance of working on language in all its aspects throughout the life cycle of the person with XFS. ; peerReviewed
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Keyword:
6101.03 Deficiencia Mental; 6102 Psicología del Niño y del Adolescente; 6104.04 Psicolingüística; Adolescentes; Adolescents; Children; Fragile-X Syndrome; Lenguaje escrito; Lenguaje oral; Niños; Oral language; Síndrome de X-Frágil; Written language
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URL: http://hdl.handle.net/10662/13482
https://doi.org/10.17060/ijodaep.2021.n1.v1.2063
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| 11 |
Expressive language development in adolescents with Down syndrome and fragile X syndrome: change over time and the role of family-related factors.
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In: Journal of neurodevelopmental disorders, vol 12, iss 1 (2020)
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| 12 |
Expressive language development in adolescents with Down syndrome and fragile X syndrome: change over time and the role of family-related factors.
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In: Journal of neurodevelopmental disorders, vol 12, iss 1 (2020)
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| 13 |
A neurophysiological model of speech production deficits in fragile X syndrome.
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In: Brain communications, vol 2, iss 1 (2020)
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| 14 |
Review of Autism Profiles and Response to Sertraline in Fragile X Syndrome-Associated Autism vs. Non-syndromic Autism; Next Steps for Targeted Treatment.
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| 15 |
The Relationship between Expressive Language Sampling and Clinical Measures in Fragile X Syndrome and Typical Development.
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In: Brain sciences, vol 10, iss 2 (2020)
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| 16 |
The Relationship between Expressive Language Sampling and Clinical Measures in Fragile X Syndrome and Typical Development
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In: Brain Sciences ; Volume 10 ; Issue 2 (2020)
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| 17 |
Language across the Lifespan in Fragile X Syndrome: Characteristics and Considerations for Assessment
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In: Brain Sciences ; Volume 10 ; Issue 4 (2020)
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| 18 |
Repeat-Associated Non-Aug Translation Initiation at Expanded Ggggcc Repeats in c9orf72-Associated Amyotrophic Lateral Sclerosis and Frontotemporal Dementia
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| 19 |
Excitatory-Inhibitory Circuit Dysregulation During The Auditory Cortex Critical Period In The Fragile X Syndrome Mouse Model
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In: Publicly Accessible Penn Dissertations (2020)
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| 20 |
Novel MED12 variant in a multiplex Fragile X syndrome family: dual molecular etiology of two X-linked intellectual disabilities with autism in the same family
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In: ISSN: 0301-4851 ; EISSN: 1573-4978 ; Molecular Biology Reports ; https://hal-riip.archives-ouvertes.fr/pasteur-03565723 ; Molecular Biology Reports, Springer Verlag, 2019, 46 (4), pp.4185 - 4193. ⟨10.1007/s11033-019-04869-6⟩ (2019)
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