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MyBotsBlog -2M report
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| TED,Crise/Analyse de Crise,Tendances |
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| Des auteurs de violences sexuelles se retrouvent a travailler au contact de personnes handicapees |
30/03/2024 |
«Les établissements pour personnes handicapées ne contrôlent pas toujours les antécédents judiciaires des salariés, bénévoles et prestataires. Résultat, des auteurs de violences sexuelles, déjà condamnés, sont parfois recrutés.Luçon, Vendée (85) - Une maison blanche de plain-pied, bordée par une haie bien taillée, nichée dans une rue pavillonnaire.
Le centre d'habitat «Â la Cabanière » pour personnes handicapées se fond dans le décor. C'est dans ce foyer d'hébergement géré par l'ADAPEI des Papillons Blancs, qu'Alexandre exerce son métier de surveillant de nuit.
On est en 2015 et l'homme de 40 ans vient d'être condamné à un an de prison sous surveillance électronique pour agressions sexuelles sur mineurs et sur une personne handicapée.Malgré ses antécédents judiciaires, il a gardé son emploi à la «Â Cabanière ». Son employeur ne lui aurait pas demandé les raisons de sa condamnation et le juge ne lui a pas interdit d'exercer sa profession.
Comme s'il ne s'était rien passé, il reprend son poste, bracelet à la cheville. Et comme à l'accoutumée, il se retrouve chaque soir, seul, avec les adultes handicapés. C'est pendant ces longues nuits, qu'Alexandre impose des fellations, des pénétrations et des masturbations à trois résidents âgés de 23 à 28 ans.
Il est condamné en mars 2021, à 13 ans de réclusion criminelle pour viols en état de récidive. A cette époque, l'affaire ne fait pas grand bruit. Seulement quelques papiers dans le quotidien régional Ouest France viennent relater ce procès.»
[...]
«Pourtant, il s'agit là d'un dossier symptomatique des défaillances de la lutte contre la récidive des infractions sexuelles dans le secteur du handicap
»...
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streetpress |
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| DIMANCHE 24 MARS 21:10 ZONE INTERDITE Scandales et défaillance de l’Etat : les dossiers noirs du handicap |
06/03/2024 |
«C'est un scandale, ou plutôt une série de scandales que révèle cette enquête de Zone Interdite sur la prise en charge du handicap en France. Pendant plus d'un an, une équipe de journalistes a suivi le combat quotidien de personnes en situation de handicap et de leurs proches, à la recherche d'une place en institut spécialisé ou à l'école.
Une réalité insoutenable.Manque de structures d'accueil, sous-effectif chronique, personnel non qualifié, recruté sans diplôme : le système censé épanouir les personnes les plus vulnérables et les sortir de l'isolement les néglige, voire les violente.Les chiffres font froid dans le dos : 30 000 enfants et leur famille sont laissés sans solution, réduits à vivre en vase clos.
Il manque des centaines de milliers d'accompagnants dans les établissements scolaires et 50 000 soignants dans les instituts spécialisés. Des défaillances du système qui conduisent à de nombreuses dérives : maltraitances physiques, pressions psychologiques, erreurs médicamenteuses.
Ceux qui les dénoncent se heurtent à l'inertie des institutions qui préfèrent le « pas de vague » à la transparence.»
[...]
«
Mais l’enquête de Zone Interdite ne s’arrête pas là. Elle met également le doigt sur un autre scandale, financier cette fois-ci, et qui pourrait éclabousser jusqu’aux services même de l’Etat.
»...
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pro.m6 |
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| La participation citoyenne directe dans les politiques de solidarite : Bilan et perspectives - IGAS - Inspection generale des affaires sociales |
09/04/2024 |
«Le rapport dresse un état des lieux des pratiques de participation citoyenne dans le champ des solidarités, en s'attachant particulièrement à l'implication directe des personnes concernées dans trois politiques publiques : lutte contre la pauvreté, accompagnement du handicap et du grand âge.Soulignant le foisonnement actuel des démarches nationales et locales de participation citoyenne, le rapport en montre la grande diversité d'ambitions et d'approches.Sous réserve que ces démarches participatives s'intègrent pleinement aux processus de décision et qu'elles reposent sur des modalités exigeantes et créatives, leurs apports sont réels : reconnaissance des personnes concernées, meilleure pertinence et effectivité des politiques publiques.La mission a constaté une appropriation inégale des principes méthodologiques de base et des règles garantissant une expression véritable des plus vulnérables, qui suppose notamment de soutenir le développement du pouvoir d'agir global des personnes concernées.»...
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igas.gouv |
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| La participation citoyenne directe dans les politiques de solidarite : Bilan et perspectives - IGAS - Inspection generale des affaires sociales |
09/04/2024 |
«Le rapport dresse un état des lieux des pratiques de participation citoyenne dans le champ des solidarités, en s'attachant particulièrement à l'implication directe des personnes concernées dans trois politiques publiques : lutte contre la pauvreté, accompagnement du handicap et du grand âge.Soulignant le foisonnement actuel des démarches nationales et locales de participation citoyenne, le rapport en montre la grande diversité d'ambitions et d'approches.Sous réserve que ces démarches participatives s'intègrent pleinement aux processus de décision et qu'elles reposent sur des modalités exigeantes et créatives, leurs apports sont réels : reconnaissance des personnes concernées, meilleure pertinence et effectivité des politiques publiques.La mission a constaté une appropriation inégale des principes méthodologiques de base et des règles garantissant une expression véritable des plus vulnérables, qui suppose notamment de soutenir le développement du pouvoir d'agir global des personnes concernées.»...
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igas.gouv |
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| La participation citoyenne directe dans les politiques de solidarite : Bilan et perspectives - IGAS - Inspection generale des affaires sociales |
09/04/2024 |
«Le rapport dresse un état des lieux des pratiques de participation citoyenne dans le champ des solidarités, en s'attachant particulièrement à l'implication directe des personnes concernées dans trois politiques publiques : lutte contre la pauvreté, accompagnement du handicap et du grand âge.Soulignant le foisonnement actuel des démarches nationales et locales de participation citoyenne, le rapport en montre la grande diversité d'ambitions et d'approches.Sous réserve que ces démarches participatives s'intègrent pleinement aux processus de décision et qu'elles reposent sur des modalités exigeantes et créatives, leurs apports sont réels : reconnaissance des personnes concernées, meilleure pertinence et effectivité des politiques publiques.La mission a constaté une appropriation inégale des principes méthodologiques de base et des règles garantissant une expression véritable des plus vulnérables, qui suppose notamment de soutenir le développement du pouvoir d'agir global des personnes concernées.»...
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igas.gouv |
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| Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates | npj Genomic Medicine |
22/03/2024 |
«Abstract Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with a strong genetic component in which rare variants contribute significantly to risk. We performed whole genome and/or exome sequencing (WGS and WES) and SNP-array analysis to identify both rare sequence and copy number variants (SNVs and CNVs) in 435 individuals from 116 ASD families.
We identified 37 rare potentially damaging de novo SNVs (pdSNVs) in the cases (n=144). Interestingly, two of them (one stop-gain and one missense variant) occurred in the same gene, BRSK2. Moreover, the identification of 8 severe de novo pdSNVs in genes not previously implicated in ASD (AGPAT3, IRX5, MGAT5B, RAB8B, RAP1A, RASAL2, SLC9A1, YME1L1) highlighted promising candidates.
Potentially damaging CNVs (pdCNVs) provided support to the involvement of inherited variants in PHF3, NEGR1, TIAM1 and HOMER1 in neurodevelopmental disorders (NDD), although mostly acting as susceptibility factors with incomplete penetrance.
Interpretation of identified pdSNVs/pdCNVs according to the ACMG guidelines led to a molecular diagnosis in 19/144 cases, although this figure represents a lower limit and is expected to increase thanks to further clarification of the role of likely pathogenic variants in ASD/NDD candidate genes not yet established.
In conclusion, our study highlights promising ASD candidate genes and contributes to characterize the allelic diversity, mode of inheritance and phenotypic impact of de novo and inherited risk variants in ASD/NDD genes.»...
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nature |
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| Evaluating screening for autism spectrum disorder using cluster randomization | Scientific Reports |
22/03/2024 |
«Abstract We evaluated the rate of autism spectrum disorder (ASD) in a group invited to a screening program compared to the rates in two groups who received usual care. The population eligible for screening was all children in Iceland registered for their 30-month well-child visits at primary healthcare centers (PHCs) from March 1, 2016, to October 31, 2017 (N=7173). The PHCs in the capital area of Reykjavik were the units of cluster randomization.
Nine PHCs were selected for intervention (invited group), while eight PHCs received usual care (control group 1). PHCs outside the capital area were without randomization (control group 2). An interdisciplinary team, including a pediatrician contributing with physical and neurological examination, a psychologist evaluating autism symptoms using a diagnostic instrument, and a social worker interviewing the parents, reached a consensus on the clinical diagnosis of ASD according to the ICD-10 diagnostic system.
Children in the population were followed up for at least two years and 119 cases were identified. The overall cumulative incidence of ASD was 1.66 (95% confidence interval (CI): 1.37, 1.99). In the invited group the incidence rate was 2.13 (95% CI: 1.60, 2.78); in control group 1, the rate was 1.83 (95% CI: 1.31, 2.50); and in control group 2, the rate was 1.02 (95% CI: 0.66, 1.50). Although the rate of ASD was higher in the invited group than in the control groups, the wide confidence intervals prevented us from concluding definitively that the screening detected ASD more readily than usual care.»...
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nature |
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| Genetics of environmental sensitivity and its association with variations in emotional problems, autistic traits, and wellbeing | Molecular Psychiatry |
18/03/2024 |
«Abstract Greater environmental sensitivity has been associated with increased risk of mental health problems, especially in response to stressors, and lower levels of subjective wellbeing.
Conversely, sensitivity also correlates with lower risk of emotional problems in the absence of adversity, and in response to positive environmental influences. Additionally, sensitivity has been found to correlate positively with autistic traits.
Individual differences in environmental sensitivity are partly heritable, but it is unknown to what extent the aetiological factors underlying sensitivity overlap with those on emotional problems (anxiety and depressive symptoms), autistic traits and wellbeing.
The current study used multivariate twin models and data on sensitivity, emotional problems, autistic traits, and several indices of psychological and subjective wellbeing, from over 2800 adolescent twins in England and Wales.
We found that greater overall sensitivity correlated with greater emotional problems, autistic traits, and lower subjective wellbeing. A similar pattern of correlations was found for the Excitation and Sensory factors of sensitivity, but, in contrast, the Aesthetic factor was positively correlated with psychological wellbeing, though not with emotional problems nor autistic traits.
The observed correlations were largely due to overlapping genetic influences. Importantly, genetic influences underlying sensitivity explained between 2 and 12% of the variations in emotional problems, autistic traits, and subjective wellbeing, independent of trait-specific or overlapping genetic influences.
These findings encourage incorporating the genetics of environmental sensitivity in future genomic studies aiming to delineate the heterogeneity in emotional problems, autistic traits, and wellbeing.»...
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nature |
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| Genetics of environmental sensitivity and its association with variations in emotional problems, autistic traits, and wellbeing | Molecular Psychiatry |
18/03/2024 |
«Abstract Greater environmental sensitivity has been associated with increased risk of mental health problems, especially in response to stressors, and lower levels of subjective wellbeing.
Conversely, sensitivity also correlates with lower risk of emotional problems in the absence of adversity, and in response to positive environmental influences. Additionally, sensitivity has been found to correlate positively with autistic traits.
Individual differences in environmental sensitivity are partly heritable, but it is unknown to what extent the aetiological factors underlying sensitivity overlap with those on emotional problems (anxiety and depressive symptoms), autistic traits and wellbeing.
The current study used multivariate twin models and data on sensitivity, emotional problems, autistic traits, and several indices of psychological and subjective wellbeing, from over 2800 adolescent twins in England and Wales.
We found that greater overall sensitivity correlated with greater emotional problems, autistic traits, and lower subjective wellbeing. A similar pattern of correlations was found for the Excitation and Sensory factors of sensitivity, but, in contrast, the Aesthetic factor was positively correlated with psychological wellbeing, though not with emotional problems nor autistic traits.
The observed correlations were largely due to overlapping genetic influences. Importantly, genetic influences underlying sensitivity explained between 2 and 12% of the variations in emotional problems, autistic traits, and subjective wellbeing, independent of trait-specific or overlapping genetic influences.
These findings encourage incorporating the genetics of environmental sensitivity in future genomic studies aiming to delineate the heterogeneity in emotional problems, autistic traits, and wellbeing.»...
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nature |
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| Early childhood neurodevelopmental milestones in children with allergic diseases: the Japan Environment and Children's Study (JECS) | Scientific Reports |
18/03/2024 |
«Abstract This study investigated the potential link between early childhood allergic diseases and neurodevelopmental milestone attainment during the first 3Â years of life.
Utilizing data from a large-scale prospective birth cohort study in Japan, encompassing 87,986 children, we examined physician-diagnosed and caregiver-reported allergic conditions, including atopic dermatitis (AD), asthma, and food allergy (FA). Neurodevelopmental milestones were assessed using the Ages and Stages Questionnaires at 1, 1.5, 2, 2.5, and 3Â years of age.
Stabilized inverse probability-weighted generalized estimating equation models were employed to estimate odds ratios (ORs). Our analysis revealed no significant association of AD and asthma with delay in communication, gross motor, fine motor, problem-solving, and personal-social skills during the initial 3Â years of life.
However, children with FA showed an increased likelihood of experiencing gross motor delay compared with that shown by those without FA (weighted adjusted OR: 1.14). Despite this, no significant association of FA with other developmental domains was observed.
Early childhood allergies may not influence neurodevelopmental delays. However, there is a potential association between FA and delays, specifically in gross motor skills, that warrants routine developmental monitoring and additional investigations.»...
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nature |
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| Study reveals unexpected literacy in autistic people who cannot speak |
07/03/2024 |
«About one-third of autistic people are unable to communicate using speech, and most are never provided an effective alternative. However, a new study from scientists at the University of Virginia suggests that many of these individuals are literate, raising the possibility that they could learn to express themselves through writing.The study, published in the journal Autism, reports that five times more nonspeaking autistic teenagers and adults demonstrated knowledge of written language conventions than would be expected from previous estimates of their abilities.
The finding has important implications for the millions of autistic people around the world who have little or no speech and who are often assumed to be incapable of acquiring literacy.»
[...]
« "If we assume that someone who can't speak doesn't understand, it limits the doors we open for them—we may not even try to figure out what they understand," said Vikram Jaswal, Professor of Psychology at the University of Virginia and the lead author of the study. "Our study shows that nonspeaking autistic people's capacity for language, for learning, and for literacy has been seriously underestimated."
»...
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medicalxpress |
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| Study reveals unexpected literacy in autistic people who cannot speak |
07/03/2024 |
«About one-third of autistic people are unable to communicate using speech, and most are never provided an effective alternative. However, a new study from scientists at the University of Virginia suggests that many of these individuals are literate, raising the possibility that they could learn to express themselves through writing.The study, published in the journal Autism, reports that five times more nonspeaking autistic teenagers and adults demonstrated knowledge of written language conventions than would be expected from previous estimates of their abilities.
The finding has important implications for the millions of autistic people around the world who have little or no speech and who are often assumed to be incapable of acquiring literacy.»
[...]
« "If we assume that someone who can't speak doesn't understand, it limits the doors we open for them—we may not even try to figure out what they understand," said Vikram Jaswal, Professor of Psychology at the University of Virginia and the lead author of the study. "Our study shows that nonspeaking autistic people's capacity for language, for learning, and for literacy has been seriously underestimated."
»...
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medicalxpress |
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| Symptoms of Cognitive Impairment Among Children With Atopic Dermatitis | Pediatrics | JAMA Dermatology | JAMA Network |
07/03/2024 |
«Abstract Importance Previous studies suggest that atopic dermatitis (AD) is associated with cognitive impairment in children, but these studies have relied primarily on neurodevelopmental diagnoses (rather than symptoms) as proxy measures of cognitive function.
It remains unknown if certain subpopulations of children with AD are at greater risk of cognitive impairment. Objective To examine the association of AD with symptoms of cognitive impairment (difficulty in learning or memory) among US children and whether this association varies according to the presence or absence of neurodevelopmental comorbidities (attention-deficit/hyperactivity disorder [ADHD], developmental delay, or learning disability).Design, Setting, and Participants This cross-sectional study used 2021 data from the US National Health Interview Survey collected on children aged 17 years or younger without intellectual disability or autism.
The presence of AD was based on a parent or adult caregiver's report indicating either a current diagnosis of AD or a previous medical confirmation of AD by a health care professional.Main Outcomes and Measures Difficulty with learning or memory as reported by the child's caregiver.»
[...]
«Conclusions and Relevance Results of this cross-sectional study suggest that pediatric AD was generally associated with greater odds of reported difficulties in learning and memory. However, this association was primarily limited to children with neurodevelopmental comorbidities, such as ADHD or learning disabilities. These findings may improve the risk stratification of children with AD for cognitive impairments and suggest that evaluation for cognitive difficulties should be prioritized among children with AD and neurodevelopmental disorders.
»...
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jamanetwork |
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| Symptoms of Cognitive Impairment Among Children With Atopic Dermatitis | Pediatrics | JAMA Dermatology | JAMA Network |
07/03/2024 |
«Abstract Importance Previous studies suggest that atopic dermatitis (AD) is associated with cognitive impairment in children, but these studies have relied primarily on neurodevelopmental diagnoses (rather than symptoms) as proxy measures of cognitive function.
It remains unknown if certain subpopulations of children with AD are at greater risk of cognitive impairment. Objective To examine the association of AD with symptoms of cognitive impairment (difficulty in learning or memory) among US children and whether this association varies according to the presence or absence of neurodevelopmental comorbidities (attention-deficit/hyperactivity disorder [ADHD], developmental delay, or learning disability).Design, Setting, and Participants This cross-sectional study used 2021 data from the US National Health Interview Survey collected on children aged 17 years or younger without intellectual disability or autism.
The presence of AD was based on a parent or adult caregiver's report indicating either a current diagnosis of AD or a previous medical confirmation of AD by a health care professional.Main Outcomes and Measures Difficulty with learning or memory as reported by the child's caregiver.»
[...]
«Conclusions and Relevance Results of this cross-sectional study suggest that pediatric AD was generally associated with greater odds of reported difficulties in learning and memory. However, this association was primarily limited to children with neurodevelopmental comorbidities, such as ADHD or learning disabilities. These findings may improve the risk stratification of children with AD for cognitive impairments and suggest that evaluation for cognitive difficulties should be prioritized among children with AD and neurodevelopmental disorders.
»...
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jamanetwork |
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| Asthme : attention aux effets indesirables neuropsychiatriques associes a SINGULAIR et generiques (montelukast) |
06/03/2024 |
«Asthme : attention aux effets indésirables neuropsychiatriques associés à SINGULAIR et génériques (montélukast)L'ANSM (Agence nationale de sécurité du médicament et des produits de santé) recommande aux professionnels de santé et aux patients ou proches aidants d'être attentifs à l'apparition de tout effet indésirable neuropsychiatrique suite à la prise de médicaments à base de montélukast (SINGULAIR et génériques).En effet, bien que la survenue de troubles neuropsychiatriques liés à ces médicaments soit déjà connue et mentionnée dans les notices, plusieurs signalements montrent que le lien n'est pas suffisamment identifié, avec pour conséquence un retard de diagnostic et de prise en charge adaptée.»
[...]
«Les effets indésirables neuropsychiatriques associés au montélukast se manifestent par divers symptômes (modifications du comportement, troubles de l'humeur) qui régressent généralement à l'arrêt du traitement. Les patients, parents ou aidants doivent être informés sur ce risque et, en cas de troubles psychiatriques, doivent consulter un médecin rapidement afin qu'il réévalue le traitement par montélukast.
»...
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vidal |
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| Percer les mysteres moleculaires de l'autisme et de la deficience intellectuelle |
03/03/2024 |
«Une nouvelle étude menée par une équipe de chercheurs de l'Université McGill et de l'Université Vanderbilt met en lumière notre compréhension des origines moléculaires de certaines formes d'autisme et de déficience intellectuelle.Pour la première fois, les chercheurs ont réussi à capturer des images à résolution atomique du récepteur ionotropique du glutamate (iGluR) à déplacement rapide pendant qu'il transporte le calcium.
Les iGluR et leur capacité à transporter le calcium sont d'une importance vitale pour de nombreuses fonctions cérébrales telles que la vision ou d'autres informations provenant des organes sensoriels.
Le calcium entraine également des changements dans la capacité de signalisation des iGluR et des connexions nerveuses, qui sont des événements cellulaires clés conduisant à notre capacité à acquérir de nouvelles compétences et à former des souvenirs.»...
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ma-clinique |
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| Percer les mysteres moleculaires de l'autisme et de la deficience intellectuelle |
03/03/2024 |
«Une nouvelle étude menée par une équipe de chercheurs de l'Université McGill et de l'Université Vanderbilt met en lumière notre compréhension des origines moléculaires de certaines formes d'autisme et de déficience intellectuelle.Pour la première fois, les chercheurs ont réussi à capturer des images à résolution atomique du récepteur ionotropique du glutamate (iGluR) à déplacement rapide pendant qu'il transporte le calcium.
Les iGluR et leur capacité à transporter le calcium sont d'une importance vitale pour de nombreuses fonctions cérébrales telles que la vision ou d'autres informations provenant des organes sensoriels.
Le calcium entraine également des changements dans la capacité de signalisation des iGluR et des connexions nerveuses, qui sont des événements cellulaires clés conduisant à notre capacité à acquérir de nouvelles compétences et à former des souvenirs.»...
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ma-clinique |
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| Agressions sexuelles dans un IME : un ado lance l'alerte, dix victimes recensees - Faire Face - Toute l'actualite du handicap |
28/02/2024 |
«Grâce à ses outils de communication alternative et améliorée, un ado polyhandicapé de 14 ans a pu dire à ses parents qu'un éducateur l'avait violé. L'enquête, menée par la brigade des mineurs, a permis d'identifier neuf autres victimes dans cet IME parisien de la Fondation Saint-Jean-de-Dieu, et conduit au placement en détention provisoire de l'agresseur.
Les parents de Nathan* témoignent.« C'est notre fils qui a lancé l'alerte. Grâce à lui, le prédateur qui abusait sexuellement des enfants de son institut médico-éducatif a pu être arrêté. » Sophia* a toujours été convaincue que Nathan*, non oralisant, serait capable de communiquer pour peu qu'elle trouve les bons outils.
Cette Parisienne s'est donc formée à la communication alternative et améliorée (CAA) afin de pouvoir accompagner son fils, atteint d'un syndrome génétique rare à l'origine de sa déficience intellectuelle sévère et de ses retards psychomoteurs.»...
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faire-face |
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| Agressions sexuelles dans un IME : un ado lance l'alerte, dix victimes recensees - Faire Face - Toute l'actualite du handicap |
28/02/2024 |
«Grâce à ses outils de communication alternative et améliorée, un ado polyhandicapé de 14 ans a pu dire à ses parents qu'un éducateur l'avait violé. L'enquête, menée par la brigade des mineurs, a permis d'identifier neuf autres victimes dans cet IME parisien de la Fondation Saint-Jean-de-Dieu, et conduit au placement en détention provisoire de l'agresseur.
Les parents de Nathan* témoignent.« C'est notre fils qui a lancé l'alerte. Grâce à lui, le prédateur qui abusait sexuellement des enfants de son institut médico-éducatif a pu être arrêté. » Sophia* a toujours été convaincue que Nathan*, non oralisant, serait capable de communiquer pour peu qu'elle trouve les bons outils.
Cette Parisienne s'est donc formée à la communication alternative et améliorée (CAA) afin de pouvoir accompagner son fils, atteint d'un syndrome génétique rare à l'origine de sa déficience intellectuelle sévère et de ses retards psychomoteurs.»...
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faire-face |
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| McGill Study Links Neurotransmitter Receptors to Neuro Disease | |
26/02/2024 |
«A new study from a team of McGill University and Vanderbilt University researchers is shedding light on our understanding of the molecular origins of some forms of autism and intellectual disability.For the first time, researchers were able to successfully capture atomic resolution images of the fast-moving ionotropic glutamate receptor (iGluR) as it transports calcium.
iGluRs and their ability to transport calcium are vitally important for many brain functions such as vision or other information coming from sensory organs. Calcium also brings about changes in the signalling capacity of iGluRs and nerve connections which are a key cellular events that lead to our ability to learn new skills and form memories.»...
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miragenews |
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| Altered hippocampal neurogenesis in a mouse model of autism revealed by genetic polymorphisms and by atypical development of newborn neurons | Scientific Reports |
26/02/2024 |
«AbstractIndividuals with autism spectrum disorder (ASD) often exhibit atypical hippocampal anatomy and connectivity throughout their lifespan, potentially linked to alterations in the neurogenic process within the hippocampus.
In this study, we performed an in-silico analysis to identify single-nucleotide polymorphisms (SNPs) in genes relevant to adult neurogenesis in the C58/J model of idiopathic autism.
We found coding non-synonymous (Cn) SNPs in 33 genes involved in the adult neurogenic process, as well as in 142 genes associated with the signature genetic profile of neural stem cells (NSC) and neural progenitors.
Based on the potential alterations in adult neurogenesis predicted by the in-silico analysis, we evaluated the number and distribution of newborn neurons in the dentate gyrus (DG) of young adult C58/J mice.
We found a reduced number of newborn cells in the whole DG, a higher proportion of early neuroblasts in the subgranular layer (SGZ), and a lower proportion of neuroblasts with morphological maturation signs in the granule cell layer (GCL) of the DG compared to C57BL/6J mice.
The observed changes may be associated with a delay in the maturation trajectory of newborn neurons in the C58/J strain, linked to the Cn SNPs in genes involved in adult hippocampal neurogenesis.»...
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nature |
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| Polygenic risk for major depression, attention deficit hyperactivity disorder, neuroticism, and schizophrenia are correlated with experience of intimate partner violence | Translational Psychiatry |
26/02/2024 |
«AbstractResearch has suggested that mental illness may be a risk factor for, as well as a sequela of, experiencing intimate partner violence (IPV). The association between IPV and mental illness may also be due in part to gene-environment correlations.
Using polygenic risk scores for six psychiatric disorders - attention-deficit hyperactivity disorder (ADHD), autism spectrum disorder (ASD), bipolar disorder (BPD), major depressive disorder (MDD), neuroticism, and schizophrenia...”and a combined measure of overall genetic risk for mental illness, we tested whether women's genetic risk for mental illness was associated with the experience of three types of intimate partner violence.
In this cohort of women of European ancestry (N=11,095), participants in the highest quintile of genetic risk for ADHD (OR range: 1.38-1.49), MDD (OR range: 1.28-1.43), neuroticism (OR range: (1.18-1.25), schizophrenia (OR range: 1.30-1.34), and overall genetic risk (OR range: 1.30-1.41) were at higher risk for experiencing more severe emotional and physical abuse, and, except schizophrenia, more severe sexual abuse, as well as more types of abuse and chronic abuse.
In addition, participants in the highest quintile of genetic risk for neuroticism (OR=1.43 95% CI: 1.18, 1.72), schizophrenia (OR=1.33 95% CI: 1.10, 1.62), and the overall genetic risk (OR=1.40 95% CI: 1.15, 1.71) were at higher risk for experiencing intimate partner intimidation and control.
Participants in the highest quintile of genetic risk for ADHD, ASD, MDD, schizophrenia, and overall genetic risk, compared to the lowest quintile, were at increased risk for experiencing harassment from a partner (OR range: 1.22-1.92). No associations were found between genetic risk for BPD with IPV. A better understanding of the salience of the multiple possible pathways linking genetic risk for mental illness with risk for IPV may aid in preventing IPV victimization or re-victimization.»...
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nature |
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| ASD jab: Chinese scientists reach milestone in revolutionary gene therapy for autism |
19/02/2024 |
«The team created a genome editing system, which successfully modified the DNA of mice that had been given a mutation found in some patients with autism spectrum disorder (ASD).Mice given the injection containing the editing system registered a decrease in ASD-associated behaviour.In a paper on their research, published in the journal Nature Neuroscience on Nov 27, the scientists said the potential treatment method could not just be used for patients with ASD, but also other genetic neurodevelopmental disorders.ASD affects about 1 per cent of the global population.
One in every 36 children in the United States is diagnosed with the disorder, according to the US Centres for Disease Control and Prevention (CDC).The disorder can affect a person's ability to interact and communicate, as well as cause repetitive behaviours and intense interests.To study the impact of genomic editing for the treatment of ASD, the researchers created mice with mutations in the MEF2C gene, which they said was "strongly associated" with the disorder.Mutations in this gene were thought to cause developmental deficits, speech problems, repetitive behaviours and epilepsy, the paper said»...
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