SINDROMES GENETICOS PDF

Introduction: 1q It is associated with a variable phenotype. Neuropsychiatric abnormalities have been previously described in many of the previously reported cases, but its true prevalence is unknown. Aim: To illustrate the phenotypic variability in 1q Case reports: Four individuals of the same kindred harboring a 1.

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November 26, The Syndroling Project studies the differences in the oral expression of children with Down, Williams and X Fragile syndromes. This is a pioneering and unique study in the international sphere. The Syndroling Project, promoted by researchers of the University of Oviedo, has allowed researchers to outline the linguistic profile of three genetic syndromes: Down, Williams and X Fragile. The ultimate objective is to design specific treatments adapted to the characteristics of each disease.

According to the explanation provided by Eliseo Diez- Itza, principal researcher of the Research Group of Speech Therapies and Child Language LOGIN , this work dismisses the false belief that states that the learning level of these children is very limited due to their overall level of intellectual disability.

The analysis comparing the three syndromes reveals, according to Eliseo Diez-Itza, an "outstandingly complex and dynamic" scene which shows that different genetic disorders determine different linguistic profiles.

This researcher emphasizes that, as a result of this study, of this in-depth comparative analysis, we may establish strong and weak points, which may vary depending on the syndromes, and which can even change through the life of those who suffer them.

The importance of the Syndroling Project relies on its clinical application. Because it deals with the study of all linguistic levels, because it does so taking into account people from the three groups, and because it applies an empirical linguistic methodology of corpus linguistics.

The results of this research project show significant differences in the linguistic profiles of those affected by the different syndromes, regardless of the level of intellectual disability. In order to get to these conclusions, specialists studied speech, grammar and use of language, by means of hours of recordings and the analysis of 12 children with Down Syndrome, 12 with X Fragile and 12 with Williams Syndrome that they compared with children with normal development.

The sample of the population belonging to the last syndrome, considered a rare disease, was one of the first ones in the world to be analyzed, followed by the one of the Salk Institute of California, which leads the research. These works dismiss the false belief that the learning capacity of these children is rather limited because of their overall level of intellectual disability.

The director of the project explains that there are some differences. Children with Down Syndrome may initially have a body language similar to the rest of children, visual memory for reading and comprehension of communicative situations. These rather strong points should be used to make up for the grammatical and phonological difficulties characteristic of this syndrome, which limit their verbal expression and give the impression of a greater disability. Therefore, according to this specialist, early intervention in their body language and with visual support would lead to a better learning.

Little children who suffer from the Williams Syndrome, even though they may have an intelligence quotient similar to those who have Down Syndrome, have language abilities very similar to those with no genetic disabilities. They have skills for music and they can memorize hundreds of songs. However, in spite of their great social skills, from the linguistic point of view they present difficulties when following conversations and telling their daily life experiences.

The apparent development of their oral expression, suggests avoiding intervention in many cases, when they should actually receive specific treatments.

The X Fragile Syndrome, first genetic cause of intellectual disability, provides a profile that is very different from the two previous ones. Children with the X Fragile Syndrome have lots of trouble socializing.

They are shy and introvert and, sometimes, they can even be considered autistic. Early diagnosis help establish a specific treatment. Those children affected by this genetic disorder go through different stages in the linguistic learning process. Oral expression is one of their weak points at the age of 3, while it becomes a strong point when they are 6 or 7 years old.

Eventually, they get to speak fairly well from the phonological and morphosyntactic point of view, although they tend to repeat the same topics or even introduce non-related ones when speaking.

It is very important to provide patients of the three syndromes with continuous speech therapies in order to improve adaptation to their different vital contexts. Researchers from all over the world, also from Asturias, have joined forces to create the largest database including child language, typical and atypical in the world. Voice bank open to the whole scientific community which collects recorded testimonies of children suffering from the aforementioned syndromes.

Williams, S. Down y S. Portadas de la ciencia. University of Oviedo. Home Communications News. Researchers of the University outline the linguistic profile of three genetic syndromes November 26, The Syndroling Project studies the differences in the oral expression of children with Down, Williams and X Fragile syndromes.

These works dismiss the false belief that the learning capacity of these children is rather limited because of their overall level of intellectual disability The director of the project explains that there are some differences. Check Out…. Node: webuniovi

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