Titre : Mosaïcisme

Mosaïcisme : Questions médicales fréquentes

Termes MeSH sélectionnés :

Language Development Disorders
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de développement peuvent être des indicateurs." } }, { "@type": "Question", "name": "Le mosaïcisme est-il héréditaire ?", "position": 5, "acceptedAnswer": { "@type": "Answer", "text": "Non, il résulte généralement d'une mutation somatique et n'est pas héréditaire." } }, { "@type": "Question", "name": "Quels sont les symptômes du mosaïcisme ?", "position": 6, "acceptedAnswer": { "@type": "Answer", "text": "Les symptômes varient selon les tissus affectés, incluant des malformations ou des troubles." } }, { "@type": "Question", "name": "Le mosaïcisme peut-il affecter le développement intellectuel ?", "position": 7, "acceptedAnswer": { "@type": "Answer", "text": "Oui, il peut entraîner des retards de développement ou des troubles cognitifs." } }, { "@type": "Question", "name": "Y a-t-il des symptômes cutanés associés ?", "position": 8, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des anomalies cutanées comme des taches pigmentées peuvent apparaître." } }, { "@type": "Question", "name": "Le mosaïcisme peut-il causer des problèmes cardiaques ?", "position": 9, "acceptedAnswer": { "@type": "Answer", "text": "Certaines formes de mosaïcisme peuvent être associées à des malformations cardiaques." } }, { "@type": "Question", "name": "Les symptômes varient-ils d'une personne à l'autre ?", "position": 10, "acceptedAnswer": { "@type": "Answer", "text": "Oui, l'expression des symptômes dépend des cellules affectées et de leur distribution." } }, { "@type": "Question", "name": "Peut-on prévenir le mosaïcisme ?", "position": 11, "acceptedAnswer": { "@type": "Answer", "text": "Le mosaïcisme ne peut pas être prévenu car il résulte de mutations somatiques." } }, { "@type": "Question", "name": "Y a-t-il des conseils pour les parents ?", "position": 12, "acceptedAnswer": { "@type": "Answer", "text": "Les parents peuvent bénéficier de conseils génétiques pour comprendre les risques." } }, { "@type": "Question", "name": "Les tests génétiques peuvent-ils aider ?", "position": 13, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les tests génétiques peuvent identifier des risques de mosaïcisme chez les enfants." } }, { "@type": "Question", "name": "L'éducation prénatale est-elle utile ?", "position": 14, "acceptedAnswer": { "@type": "Answer", "text": "Oui, l'éducation prénatale aide à comprendre les risques et les options disponibles." } }, { "@type": "Question", "name": "Les habitudes de vie influencent-elles le mosaïcisme ?", "position": 15, "acceptedAnswer": { "@type": "Answer", "text": "Non, le mosaïcisme est généralement indépendant des habitudes de vie des parents." } }, { "@type": "Question", "name": "Quel traitement est disponible pour le mosaïcisme ?", "position": 16, "acceptedAnswer": { "@type": "Answer", "text": "Le traitement dépend des symptômes et peut inclure des interventions chirurgicales." } }, { "@type": "Question", "name": "Le mosaïcisme nécessite-t-il un suivi médical ?", "position": 17, "acceptedAnswer": { "@type": "Answer", "text": "Oui, un suivi régulier est essentiel pour gérer les complications potentielles." } }, { "@type": "Question", "name": "Des thérapies spécifiques existent-elles ?", "position": 18, "acceptedAnswer": { "@type": "Answer", "text": "Des thérapies ciblées peuvent être envisagées selon les symptômes et les tissus affectés." } }, { "@type": "Question", "name": "Le traitement est-il curatif ?", "position": 19, "acceptedAnswer": { "@type": "Answer", "text": "Il n'existe pas de traitement curatif, mais des soins peuvent améliorer la qualité de vie." } }, { "@type": "Question", "name": "Les médicaments sont-ils utilisés pour le mosaïcisme ?", "position": 20, "acceptedAnswer": { "@type": "Answer", "text": "Des médicaments peuvent être prescrits pour traiter des symptômes spécifiques." } }, { "@type": "Question", "name": "Quelles complications peuvent survenir ?", "position": 21, "acceptedAnswer": { "@type": "Answer", "text": "Les complications incluent des malformations, des troubles de la croissance et des cancers." } }, { "@type": "Question", "name": "Le mosaïcisme augmente-t-il le risque de cancer ?", "position": 22, "acceptedAnswer": { "@type": "Answer", "text": "Oui, certains types de mosaïcisme peuvent être associés à un risque accru de cancer." } }, { "@type": "Question", "name": "Des complications neurologiques sont-elles possibles ?", "position": 23, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des complications neurologiques peuvent survenir selon les cellules affectées." } }, { "@type": "Question", "name": "Le mosaïcisme peut-il affecter la fertilité ?", "position": 24, "acceptedAnswer": { "@type": "Answer", "text": "Certaines formes de mosaïcisme peuvent avoir un impact sur la fertilité." } }, { "@type": "Question", "name": "Comment gérer les complications ?", "position": 25, "acceptedAnswer": { "@type": "Answer", "text": "La gestion des complications nécessite une approche multidisciplinaire et un suivi régulier." } }, { "@type": "Question", "name": "Quels sont les facteurs de risque du mosaïcisme ?", "position": 26, "acceptedAnswer": { "@type": "Answer", "text": "Les facteurs incluent des anomalies chromosomiques et des mutations génétiques." } }, { "@type": "Question", "name": "L'âge parental influence-t-il le mosaïcisme ?", "position": 27, "acceptedAnswer": { "@type": "Answer", "text": "Oui, l'âge avancé des parents peut augmenter le risque de mutations génétiques." } }, { "@type": "Question", "name": "Des facteurs environnementaux jouent-ils un rôle ?", "position": 28, "acceptedAnswer": { "@type": "Answer", "text": "Certaines expositions environnementales peuvent contribuer à des mutations somatiques." } }, { "@type": "Question", "name": "Les antécédents familiaux sont-ils un facteur ?", "position": 29, "acceptedAnswer": { "@type": "Answer", "text": "Les antécédents familiaux de maladies génétiques peuvent augmenter le risque." } }, { "@type": "Question", "name": "Le mosaïcisme est-il lié à des infections ?", "position": 30, "acceptedAnswer": { "@type": "Answer", "text": "Certaines infections virales peuvent être associées à des mutations, mais ce n'est pas direct." } } ] } ] }

Sources (10000 au total)

The Development of Mental Health Difficulties in Young People With and Without Developmental Language Disorder: A Gene-Environment Interplay Study Using Polygenic Scores.

Young people with developmental language disorder (DLD) have poorer mental health than those without DLD. However, not all young people with DLD are equally affected; some have more mental health diff... Data from a community cohort study, the Avon Longitudinal Study of Parents and Children, were analyzed to investigate genetic and environmental influences on the development of mental health difficult... Polygenic scores (PGSs), indices of genetic risk, for common psychiatric disorders (major depressive disorder, anxiety disorder, and attention deficit hyperactivity disorder) predicted mental health d... These findings suggest that, for the most part, both genetic and environmental risk affect the development of mental health difficulties in a cumulative way for young people with DLD (and those withou... https://doi.org/10.23641/asha.22351012....

Music skills of Spanish-speaking children with developmental language disorder.

According to temporal sampling theory, deficits in rhythm processing contribute to both language and music difficulties in children with developmental language disorder (DLD). Evidence for this propos... This research aimed to study a previously unexamined topic, namely, the music skills of children with DLD who speak Spanish (a syllable-timed language), and to analyze the possible relationships betwe... Two groups of 18 Spanish-speaking children with DLD and 19 typically-developing peers matched for chronological age completed a set of language tests. Their rhythm discrimination, melody discriminatio... Children with DLD exhibited significantly lower performance than their typically-developing peers on all three music subtests. Music and language skills were significantly related in both groups.... The results suggest that similar music difficulties may be found in children with DLD whether they speak stress-timed or syllable-timed languages. The relationships found between music and language sk...

Auditory brainstem response deficits in learning disorders and developmental language disorder: a systematic review and meta-analysis.

Although learning disorders (LD) and developmental language disorder (DLD) can be linked to overlapping psychological and behavioral deficits, such as phonological, morphological, orthographic, semant...

Performance in decoding and writing of children with Developmental Language Disorder: preliminary data.

to verify the performance of children with Developmental Language Disorder in decoding and writing tests in order to better understand their manifestations and the process of acquiring written languag... The study subjects were 80 children. The Research Group consisted of 16 children diagnosed with Developmental Language Disorder, 13 males and 3 females, mean age of 7.3. The Control Group counted on 6... The data indicated a longer decoding time and a lower percentage of correct answers for the children from the Research Group. Regarding spelling errors, there was a predominance of arbitrary spelling ... The data showed that children with Developmental Language Disorder tend to have a longer decoding time, greater percentage of errors than their peers and tend to present spelling errors more concentra...

Developmental Language Disorder and Writing: A Scoping Review From Childhood to Adulthood.

The purpose of this study was to conduct a scoping review of literature focused on the effects of developmental language disorder (DLD) on writing skills across the life span to highlight gaps in our ... We adopted the five-step framework for conducting scoping reviews outlined by Arksey and O'Malley (2005) to identify literature focused on writing outcomes for individuals with DLD in childhood, adole... Seventy-two studies from 1991 to 2022 met review criteria. Results indicated that spelling may be an area of relative weakness for individuals with DLD across the life span. Children and adolescents w... Overall, research into the writing skills of individuals with DLD is limited, and more information is needed to inform functional evidence-based approaches to assessment and intervention of writing fo... https://doi.org/10.23641/asha.23596797....

The contribution of theta and delta to feedback processing in children with developmental language disorder.

The study aimed at evaluating feedback processing at the electrophysiological level and its relation to learning in children with developmental language disorder (DLD) to further advance our understan... A feedback-based probabilistic learning task required children to classify novel cartoon animals into two categories that differ on five binary features, the probabilistic combination of which determi... Children with developmental language disorder (DLD) performed poorer on the task when compared with their age-matched peers with typical language development (TD). The electrophysiological data in the... Theta activity, which is associated with the initial processing of feedback at the level of the anterior cingulate cortex, was detected in children with developmental language disorder (DLD) but was n...

Direct Instruction Improves Word Learning for Children With Developmental Language Disorder.

The current study compared the effects of direct instruction versus indirect exposure on multiple aspects of novel word learning for children with developmental language disorder (DLD) and children wi... Participants included 36 children with DLD and 45 children with TLD. All children were in the first grade and 6-8 years of age (... In alternative forced-choice measures of recognition, children with DLD were less accurate than their TLD peers in linking words to referents, encoding semantic categories for words, and encoding deta... These results suggest that vocabulary interventions with direct instruction can help children with DLD learn some, but not all, aspects of novel words. Additional support is necessary to help children...