Titre : Monosomie

Monosomie : Questions médicales fréquentes

Termes MeSH sélectionnés :

Neurodevelopmental Disorders
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?\nLes infections pendant la grossesse augmentent-elles le risque ?\nL'exposition à des toxines est-elle un facteur ?\nLes habitudes de vie influencent-elles le risque ?\nY a-t-il des facteurs génétiques impliqués ?", "url": "https://questionsmedicales.fr/mesh/D009006?mesh_terms=Neurodevelopmental+Disorders&page=2#section-facteurs de risque" } ] }, { "@type": "FAQPage", "mainEntity": [ { "@type": "Question", "name": "Comment diagnostiquer une monosomie ?", "position": 1, "acceptedAnswer": { "@type": "Answer", "text": "Le diagnostic se fait par analyse chromosomique, comme le caryotype." } }, { "@type": "Question", "name": "Quels tests génétiques sont utilisés ?", "position": 2, "acceptedAnswer": { "@type": "Answer", "text": "Des tests comme l'analyse de l'ADN et le séquençage peuvent être utilisés." } }, { "@type": "Question", "name": "Quels signes cliniques indiquent une monosomie ?", "position": 3, "acceptedAnswer": { "@type": "Answer", "text": "Des anomalies physiques, retard de développement ou troubles cognitifs peuvent indiquer une monosomie." } }, { "@type": "Question", "name": "La biopsie de villosités choriales est-elle utile ?", "position": 4, "acceptedAnswer": { "@type": "Answer", "text": "Oui, elle permet de détecter des anomalies chromosomiques pendant la grossesse." } }, { "@type": "Question", "name": "Quel rôle joue l'échographie dans le diagnostic ?", "position": 5, "acceptedAnswer": { "@type": "Answer", "text": "L'échographie peut révéler des malformations congénitales associées à la monosomie." } }, { "@type": "Question", "name": "Quels sont les symptômes courants de la monosomie ?", "position": 6, "acceptedAnswer": { "@type": "Answer", "text": "Les symptômes incluent des anomalies physiques, des retards de croissance et des troubles cognitifs." } }, { "@type": "Question", "name": "La monosomie peut-elle causer des problèmes cardiaques ?", "position": 7, "acceptedAnswer": { "@type": "Answer", "text": "Oui, certaines formes de monosomie sont associées à des malformations cardiaques." } }, { "@type": "Question", "name": "Y a-t-il des signes de troubles du développement ?", "position": 8, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des retards dans le langage et les compétences motrices peuvent être observés." } }, { "@type": "Question", "name": "Les troubles comportementaux sont-ils fréquents ?", "position": 9, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des troubles du comportement et des difficultés d'apprentissage peuvent survenir." } }, { "@type": "Question", "name": "La monosomie affecte-t-elle le système immunitaire ?", "position": 10, "acceptedAnswer": { "@type": "Answer", "text": "Certaines formes de monosomie peuvent entraîner une immunodéficience." } }, { "@type": "Question", "name": "Peut-on prévenir la monosomie ?", "position": 11, "acceptedAnswer": { "@type": "Answer", "text": "Il n'existe pas de méthode de prévention, mais un suivi prénatal peut aider à la détection." } }, { "@type": "Question", "name": "Quels conseils pour les femmes enceintes ?", "position": 12, "acceptedAnswer": { "@type": "Answer", "text": "Une alimentation équilibrée et des soins prénatals réguliers sont recommandés." } }, { "@type": "Question", "name": "Les tests génétiques sont-ils utiles avant la grossesse ?", "position": 13, "acceptedAnswer": { "@type": "Answer", "text": "Oui, ils peuvent aider à évaluer le risque de transmettre des anomalies chromosomiques." } }, { "@type": "Question", "name": "Le dépistage prénatal est-il recommandé ?", "position": 14, "acceptedAnswer": { "@type": "Answer", "text": "Oui, le dépistage prénatal peut identifier des risques de monosomie." } }, { "@type": "Question", "name": "Les antécédents familiaux influencent-ils le risque ?", "position": 15, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des antécédents familiaux de troubles chromosomiques peuvent augmenter le risque." } }, { "@type": "Question", "name": "Quels traitements sont disponibles pour la monosomie ?", "position": 16, "acceptedAnswer": { "@type": "Answer", "text": "Le traitement est symptomatique et peut inclure des thérapies physiques et éducatives." } }, { "@type": "Question", "name": "La chirurgie est-elle une option ?", "position": 17, "acceptedAnswer": { "@type": "Answer", "text": "Oui, la chirurgie peut être nécessaire pour corriger certaines malformations physiques." } }, { "@type": "Question", "name": "Les médicaments peuvent-ils aider ?", "position": 18, "acceptedAnswer": { "@type": "Answer", "text": "Des médicaments peuvent être prescrits pour gérer des symptômes spécifiques, comme l'anxiété." } }, { "@type": "Question", "name": "Comment la thérapie comportementale aide-t-elle ?", "position": 19, "acceptedAnswer": { "@type": "Answer", "text": "Elle peut aider à gérer les troubles du comportement et améliorer les compétences sociales." } }, { "@type": "Question", "name": "Y a-t-il des programmes de soutien disponibles ?", "position": 20, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des programmes de soutien pour les familles et les patients sont souvent disponibles." } }, { "@type": "Question", "name": "Quelles complications peuvent survenir avec la monosomie ?", "position": 21, "acceptedAnswer": { "@type": "Answer", "text": "Des complications incluent des malformations congénitales et des troubles de la croissance." } }, { "@type": "Question", "name": "La monosomie peut-elle affecter la fertilité ?", "position": 22, "acceptedAnswer": { "@type": "Answer", "text": "Oui, certaines formes de monosomie peuvent entraîner des problèmes de fertilité." } }, { "@type": "Question", "name": "Y a-t-il un risque accru de cancer ?", "position": 23, "acceptedAnswer": { "@type": "Answer", "text": "Certaines monosomies sont associées à un risque accru de développer certains cancers." } }, { "@type": "Question", "name": "Les troubles neurologiques sont-ils possibles ?", "position": 24, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des troubles neurologiques peuvent survenir, affectant le développement cognitif." } }, { "@type": "Question", "name": "La survie est-elle affectée par la monosomie ?", "position": 25, "acceptedAnswer": { "@type": "Answer", "text": "La survie dépend du type de monosomie et des complications associées." } }, { "@type": "Question", "name": "Quels sont les facteurs de risque de monosomie ?", "position": 26, "acceptedAnswer": { "@type": "Answer", "text": "L'âge maternel avancé et des antécédents familiaux de troubles chromosomiques sont des facteurs de risque." } }, { "@type": "Question", "name": "Les infections pendant la grossesse augmentent-elles le risque ?", "position": 27, "acceptedAnswer": { "@type": "Answer", "text": "Certaines infections peuvent augmenter le risque de complications chromosomiques." } }, { "@type": "Question", "name": "L'exposition à des toxines est-elle un facteur ?", "position": 28, "acceptedAnswer": { "@type": "Answer", "text": "Oui, l'exposition à des toxines environnementales peut augmenter le risque de monosomie." } }, { "@type": "Question", "name": "Les habitudes de vie influencent-elles le risque ?", "position": 29, "acceptedAnswer": { "@type": "Answer", "text": "Des habitudes de vie comme le tabagisme peuvent influencer le risque de complications." } }, { "@type": "Question", "name": "Y a-t-il des facteurs génétiques impliqués ?", "position": 30, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des anomalies génétiques héréditaires peuvent augmenter le risque de monosomie." } } ] } ] }

Sources (10000 au total)

Neurodevelopmental disorder with dystonia due to SOX6 mutations.

Mutations in SOX6 have recently been recognized as a new molecular cause of neurodevelopmental disorders characterized by intellectual disability, behavioral changes, and nonspecific facial and digita... Here we report a new case of SOX6-associated neurodegeneration and expand the phenotype to include ceratoconus. The clinical picture consisted of early onset mildly reduced intellectual function, faci... SOX6-associated neurodevelopmental delayis ultrarare with less than 25 cases described in the literature. We report a new case who presented with early-onset mildly reduced intellectual function, faci...

Amblyopia treatment outcomes in patients with neurodevelopmental disorders.

To compare amblyopia treatment outcomes between patients with neurodevelopmental disorders and their typically developing peers.... Of 2,311 patients diagnosed with amblyopia between 2010 and 2014 at Boston Children's Hospital, 460 met inclusion criteria (age 2-12 with anisometropic, strabismic, or mixed amblyopia [interocular dif... The DD group (n = 54) and TD group (n = 406) were similar in demographics, amblyogenic risk factors, baseline visual measures, prescribed therapy, and adherence (P ≥ 0.10). Between-visit follow-up tim... Patients with DD and those with TD responded similarly to amblyopia therapy; however, follow-up intervals were longer in patients with DD and correlated with the likelihood of persistent amblyopia, su...

Bisphenol-A and phthalate metabolism in children with neurodevelopmental disorders.

The etiology of autism spectrum (ASD) and Attention Deficit/Hyperactivity (ADHD) disorders are multifactorial. Epidemiological studies have shown associations with environmental pollutants, such as pl... Detoxification of these two plasticizers is compromised in children with ASD and ADHD. Consequently, their tissues are more exposed to these two plasticizers.... We measured the efficiency of glucuronidation in three groups of children, ASD (n = 66), ADHD (n = 46) and healthy controls (CTR, n = 37). The children were recruited from the clinics of Rutgers-NJ Me... (1) Both fold differences and metabolome analyses showed that the three groups of children were metabolically different from each other. (2) Of the 12 pathways examined, only the BPA and DEHP pathways... ASD and ADHD are clinically and metabolically different but share a reduction in the efficiency of detoxification for both BPA and DEHP with the reductions for BPA being statistically significant....

LHX2 haploinsufficiency causes a variable neurodevelopmental disorder.

LHX2 encodes the LIM homeobox 2 transcription factor (LHX2), which is highly expressed in brain and well conserved across species, but it has not been clearly linked to neurodevelopmental disorders (N... Through international collaboration, we identified 19 individuals from 18 families with variable neurodevelopmental phenotypes, carrying a small chromosomal deletion, likely gene-disrupting or missens... Affected individuals presented with developmental and/or behavioral abnormalities, autism spectrum disorder, variable intellectual disability, and microcephaly. We observed nucleolar accumulation for ... We implicate LHX2 haploinsufficiency by deletion and likely gene-disrupting variants as causative for a variable NDD. Our findings suggest a loss-of-function mechanism also for likely pathogenic LHX2 ...

Developmental Functioning of Infants and Toddlers with Neurodevelopmental Disorders.

The current study aimed to investigate developmental functioning in infants and toddlers with autism spectrum disorder (ASD), seizures, cerebral palsy (CP), and atypical development.... An ANOVA was utilized to investigate the differences between neurodevelopmental group on BDI-2 developmental quotient and a MANOVA was used to investigate the differences between the groups and five d... The results indicated statistically significant differences in overall developmental functioning and each subdomain of the BDI-2.... These findings provide the basis for further research to investigate comorbidities of the three neurodevelopmental disorders and parse out the impact of intellectual disability (ID)....