Aspectos psicolingüísticos en el síndrome del cromosoma X frágil

Brun, Carme; Artigas, J.

doi:10.33588/rn.33s1.2001347

Cited by 6 publications

(1 citation statement)

References 9 publications

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“…Fragile X syndrome (FXS) is the most common cause of hereditary intellectual disability ( 1 ). The syndrome has a complex clinical course, and patients show a unique phenotype that includes an elongated face, pointed ears, high palate, hyperlaxity, etc.…”

Section: Introductionmentioning

confidence: 99%

Experiences of the Molecular Diagnosis of Fragile X Syndrome in Ecuador

et al. 2021

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Fragile X syndrome (FXS) is the most common cause of hereditary intellectual disability and the second most common cause of intellectual disability of genetic etiology. This complex neurodevelopmental disorder is caused by an alteration in the CGG trinucleotide expansion in fragile X mental retardation gene 1 (FMR1) leading to gene silencing and the subsequent loss of its product: fragile X mental retardation protein 1 (FMRP). Molecular diagnosis is based on polymerase chain reaction (PCR) screening followed by Southern blotting (SB) or Triplet primer-PCR (TP-PCR) to determine the number of CGG repeats in the FMR1 gene. We performed, for the first time, screening in 247 Ecuadorian male individuals with clinical criteria to discard FXS. Analysis was carried out by the Genetics Service of the Hospital de Especialidades No. 1 de las Fuerzas Armadas (HE-1), Ecuador. The analysis was performed using endpoint PCR for CGG fragment expansion analysis of the FMR1 gene. Twenty-two affected males were identified as potentially carrying the full mutation in FMR1 and thus diagnosed with FXS that is 8.1% of the sample studied. The average age at diagnosis of the positive cases was 13 years of age, with most cases from the geographical area of Pichincha (63.63%). We confirmed the familial nature of the disease in four cases. The range of CGG variation in the population was 12–43 and followed a modal distribution of 27 repeats. Our results were similar to those reported in the literature; however, since it was not possible to differentiate between premutation and mutation cases, we can only establish a molecular screening approach to identify an expanded CGG repeat, which makes it necessary to generate national strategies to optimize molecular tests and establish proper protocols for the diagnosis, management, and follow-up of patients, families, and communities at risk of presenting FXS.

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Section: Introductionmentioning

confidence: 99%

Experiences of the Molecular Diagnosis of Fragile X Syndrome in Ecuador

et al. 2021

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Estresse e autoconceito em pais e mães de crianças com a síndrome do X-frágil

Cherubini

Bosa

Bandeira

2008

Psicol. Reflex. Crit.

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ResumoA síndrome do x-frágil é a principal causa de deficiência mental herdada, suplantada apenas pela síndrome de Down, sendo a mulher a principal transmissora. Indivíduos com a síndrome do X-frágil apresentam um conjunto de características que pode causar um impacto no sistema familiar. Este estudo investiga o estresse e o autoconceito em 15 pais e mães de meninos com a síndrome do X-frágil, 15 de meninos com Síndrome de Down e 15 de meninos com desenvolvimento típico, baseado no modelo biopsicossocial de Bradford. Os resultados revelaram uma diferença significativa no autoconceito (self pessoal) entre as mães de crianças com a Síndrome do X-frágil e as mães de crianças com desenvolvimento típico, mas não entre aquelas e o grupo S. de Down, sugerindo que o fator da transmissão por si só não explica as diferenças no autoconceito. Não houve diferença entre os grupos na medida de estresse. Palavras-chave: Síndrome do X-Frágil; Síndrome de Down; estresse parental; autoconceito; apoio social. AbstractThe Fragile X Syndrome is the major inherited intellectual disability, superseded only by Down Syndrome, and it is transmitted mostly by females. Patients with Fragile X Syndrome show a set of physical, clinical, behavioral and cognitive features that may impact the family structures, especially the parental figures. This study investigates the stress and self-concept of 15 parents of boys with Fragile X Syndrome, 15 parents of boys with Down syndrome and 15 with typical development accordingly to the biopsychosocial model of Bradford. The results showed a significant difference of self-concept between mothers of children with Fragile X Syndrome and typical developmental groups, but not in those with Down Syndrome, suggesting that the transmission factor solely does not explain differences in self-concept.

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Características de lenguaje oral y escrito en síndrome de X-frágil

Sepúlveda

García

Pedrosa

et al. 2021

Revista INFAD de Psicología

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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 X-Frágil 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.

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Aspectos psicolingüísticos en el síndrome del cromosoma X frágil

Cited by 6 publications

References 9 publications

Experiences of the Molecular Diagnosis of Fragile X Syndrome in Ecuador

Experiences of the Molecular Diagnosis of Fragile X Syndrome in Ecuador

Estresse e autoconceito em pais e mães de crianças com a síndrome do X-frágil

Características de lenguaje oral y escrito en síndrome de X-frágil

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