«Material from prehistoric viruses that found its way into our genome could help explain the development of autism where there is no other specified cause.LAURA SIMMONSEditor and Staff WriterMar 10, 2023 3:38 PMSequences from viruses that infected our ancient primate ancestors are thought to make up 8 percent of the human genome. Viral fossils that integrated into our genetic code millions of years ago could be responsible for some subtypes of autism, a new study has suggested. Experiments in mouse models revealed a possible role for these endogenous viral elements and suggest that this should be an avenue for further research.»
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«The human genome is littered with sequences derived from viruses that infected our ancient ancestors. Called endogenous retroviruses (ERVs), these genetic elements make up about 8 percent of our genome, and originated from the ancestors of modern retroviruses like HIV. Most of the time, ERVs remain dormant, silenced by the body’s sophisticated regulatory machinery. There have been tentative claims that these sequences could be involved in some cases of sporadic amyotrophic lateral sclerosis (ALS); there is also some evidence to suggest that they may play a protective role during embryonic development. Overall, though, they remain largely mysterious relics of our genetic history. A new study, from an international team led by researchers at Kobe University in Japan, has uncovered a possible role for ERVs in the development of autism. The experiments were performed using a mouse model of idiopathic autism – that’s autism with no known genetic or environmental cause. Brain scans on two different but related strains of mice, called BTBR/J and BTBR/R, revealed structural differences in 33 brain regions. The most stark was in the corpus callosum, the bundle of nerves that connects the two hemispheres of the brain together. Further investigations revealed that the BTBR/R mice had significantly higher levels of ERVs compared with non-autistic mice, and genetic analysis suggested that these ERVs had been activated. The authors suggest that this is down to a failure of the mechanisms that usually keep ERVs sitting quietly in the genome, and found that the activation led to increased copy number variants (CNVs) – repeated genetic sequences that vary in number between individuals – in the autistic mice. The study concluded that ERV activation during fetal development could increase the likelihood of autism. The team also performed extensive behavioral tests on their two different groups of autistic mice. BTBR/R mice displayed less anxiety than the BTBR/J mice. They also performed almost as well as neurotypical mice in a maze test (similar to the one in the video below), showing they have a near-typical level of spatial learning ability. However, the BTBR/R mice also showed more repetitive behaviors and less willingness to interact socially with other mice, which the researchers refer to as the “core symptoms” of autism. »...

«Here are some things we know about gender-affirming health care: We know that the number of young patients being seen by gender clinics has increased, and that the gender balance of these young patients has changed, with more female-assigned youth seeking care. (We don't see the same gender imbalance outside of clinics, where young people identify as trans in roughly equal numbers regardless of birth-assigned sex.) We also know that autism is more common in trans youth than in the broader population.»...

«A new University Of Iowa study has found a link between suicidal thoughts and twice exceptional youth.Twice exceptional youth are kids who have both exceptional ability and a disability.The new UI study narrows in on children who have both an autism diagnosis and high IQ.The study found autistic children with an IQ of 120 or higher are nearly six times more likely to have thoughts of suicide.Researchers tell Iowa's News Now it's unexpected, because usually a high IQ is associated with better outcomes and less suicidal ideation -- if you're neurotypical.But if you fall under the autism umbrella, the study's author says having a higher IQ can present problems other people on the spectrum may not experience.»...

«Les troubles de la personnalité schizoide et l'autisme sont des conditions complexes qui présentent des symptômes communs dans certaines situations, ce qui peut confondre les professionnels de la santé et conduire à une mauvaise orientation diagnostique et thérapeutique. Cet article examine en profondeur l'intersection de ces deux pathologies et discute des symptômes qui s'entrecroisent ainsi que des enjeux et des conséquences possibles.» [...]
« Comprendre les enjeux et les conséquences La reconnaissance et le diagnostic des troubles de la personnalité schizoïde et de l’autisme sont des enjeux majeurs pour les professionnels de la santé, car une mauvaise orientation diagnostique et thérapeutique peut avoir des conséquences négatives à long terme pour les individus touchés. Une prise en charge appropriée et bien équilibrée est cruciale pour aider les personnes atteintes à vivre une vie satisfaisante. En outre, l’intersection des troubles de la personnalité schizoïde et de l’autisme soulève des questions importantes concernant le traitement et le soutien des personnes qui en sont affectées. Les professionnels de la santé doivent examiner les besoins spécifiques de chaque individu et fournir un soutien adapté à ses circonstances particulières. »...

«Summary: Genes linked to inflammation, neurotransmission, and immunity act differently in the brains of those on the autism spectrum compared to neurotypical people. These differences begin during childhood and evolve throughout a person's lifespan.Source: UC DavisA new study led by UC Davis MIND Institute researchers confirms that brain development in people with autism differs from those with typical neurodevelopment.According to the study published in PNAS, these differences are linked to genes involved in inflammation, immunity response and neural transmissions. They begin in childhood and evolve across the lifespan.About one in 44 children in the U.S. has autism. Autistic individuals may behave, communicate and learn in ways that are different from neurotypical people. As they age, they often have challenges with social communication and interaction.The researchers aimed to understand how neurons in the brain communicate and the interaction between age and autism. They studied the genetic differences in brain»...

«There is this picture - you may have seen it. It is black and white and has two silhouettes facing one another. Or maybe you see the black vase with a white background. But now, you likely see both.It is an example of a visual illusion that reminds us to consider what we did not see at first glance, what we may not be able to see, or what our experience has taught us to know - there is always more to the picture or maybe even a different image to consider altogether. Researchers are finding the process in our brain that allows us to see these visual distinctions may not be happening the same way in the brains of children with autism spectrum disorder. They may be seeing these illusions differently."How our brain puts together pieces of an object or visual scene is important in helping us interact with our environments," said Emily Knight, MD, PhD, assistant professor of Neuroscience and Pediatrics at the University of Rochester Medical Center, and first author on a study out today in the Journal of Neuroscience. "When we view an object or picture, our brains use processes that consider our experience and contextual information to help anticipate sensory inputs, address ambiguity, and fill in the missing information.»...

«New rare-disease orphan drugs:The U.S. Food and Drug Administration (FDA) granted orphan drug designation to oral ketamine for Rett syndrome this month, as well as psilocybin and the experimental drug blarcamesine, both for fragile X, in November. This status, created by the Orphan Drug Act, aims to foster drug development for rare conditions that the pharmaceutical industry has "orphaned" because of a lack of financial incentive.To qualify as an orphan drug, a compound must target a condition that affects fewer than 200,000 people. Once the compound qualifies, its maker benefits from tax credits for clinical trials and exemptions from certain FDA fees ...” discounts that make its development a bit less of a gamble The company testing NRTX-1001, an experimental cell therapy for focal epilepsy, confirmed at the beginning of February that it laid off a quarter of its staff, citing a tight funding environment. Eight days later, the FDA cleared the company — San Francisco-based Neurona Therapeutics — to continue enrolling participants in its ongoing phase 1/2 clinical trial, based on promising data from its first two patients. The FDA also gave Neurona the go-ahead to expand its trial to include people whose epilepsy originates in the dominant side of the mesial temporal lobe, in addition to the non-dominant side it was initially cleared to study.»
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«Drug samples: The company testing NRTX-1001, an experimental cell therapy for focal epilepsy, confirmed at the beginning of February that it laid off a quarter of its staff, citing a tight funding environment. Eight days later, the FDA cleared the company — San Francisco-based Neurona Therapeutics — to continue enrolling participants in its ongoing phase 1/2 clinical trial, based on promising data from its first two patients. The FDA also gave Neurona the go-ahead to expand its trial to include people whose epilepsy originates in the dominant side of the mesial temporal lobe, in addition to the non-dominant side it was initially cleared to study. An experimental Rett syndrome gene therapy is set to embark on a phase 1/2 trial this year. The therapy, called NGN-401 and developed by New York-based Neurogene, improved survival rates and phenotypes in animals modeling Rett syndrome. In male mice modeling Rett syndrome, blocking the fat hormone leptin with a drug or genetic manipulation improves breathing and movement issues, supports healthy body weight, and prevents the usual degradation of overall health, according to an unpublished study posted to bioRxiv in February. A cannabis-based fragile X treatment is in phase 3 trials, and an interim analysis presented last year hinted that it had improved social behavior and eased some fragile X traits. But independent experts have voiced concerns about whether it will be affordable and show enough benefit over the current standard of care for fragile X syndrome, Clinical Trials Arena reported in January. People with epilepsy have begun receiving an experimental drug aimed at increasing their natural levels of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA) as part of a randomized, double-blind, placebo-controlled phase 1 trial sponsored by New York-based Ovid Therapeutics. The most common psychotropic medications prescribed to autistic people in Turkey are the atypical antipsychotics risperidone and aripiprazole, followed by the anticonvulsant drug valproic acid, according to a February study in International Clinical Psychopharmacology. Fragile X model mice treated with the experimental antipsychotic drug pirenperone show increased expression of FMR1, the gene implicated in the condition. Researchers identified this drug as a candidate through a data-driven screening method using genetic samples from people with and without fragile X. Of the 210 drugs the FDA approved between 2018 and 2021, 21 showed no significant benefit over a placebo in one or more of their primary outcomes in clinical trials, according to a study in JAMA Internal Medicine. The blood pressure drug bumetanide continued to show no significant benefits for children and teenagers with autism, according to a January reanalysis of data from a phase 2 trial that published its initial results in 2021. Two subsequent phase 3 trials were terminated early in 2021 after the drug failed to show benefit over a placebo. »...

«New rare-disease orphan drugs:The U.S. Food and Drug Administration (FDA) granted orphan drug designation to oral ketamine for Rett syndrome this month, as well as psilocybin and the experimental drug blarcamesine, both for fragile X, in November. This status, created by the Orphan Drug Act, aims to foster drug development for rare conditions that the pharmaceutical industry has "orphaned" because of a lack of financial incentive.To qualify as an orphan drug, a compound must target a condition that affects fewer than 200,000 people. Once the compound qualifies, its maker benefits from tax credits for clinical trials and exemptions from certain FDA fees ...” discounts that make its development a bit less of a gamble The company testing NRTX-1001, an experimental cell therapy for focal epilepsy, confirmed at the beginning of February that it laid off a quarter of its staff, citing a tight funding environment. Eight days later, the FDA cleared the company — San Francisco-based Neurona Therapeutics — to continue enrolling participants in its ongoing phase 1/2 clinical trial, based on promising data from its first two patients. The FDA also gave Neurona the go-ahead to expand its trial to include people whose epilepsy originates in the dominant side of the mesial temporal lobe, in addition to the non-dominant side it was initially cleared to study.»
[...]
«Drug samples: The company testing NRTX-1001, an experimental cell therapy for focal epilepsy, confirmed at the beginning of February that it laid off a quarter of its staff, citing a tight funding environment. Eight days later, the FDA cleared the company — San Francisco-based Neurona Therapeutics — to continue enrolling participants in its ongoing phase 1/2 clinical trial, based on promising data from its first two patients. The FDA also gave Neurona the go-ahead to expand its trial to include people whose epilepsy originates in the dominant side of the mesial temporal lobe, in addition to the non-dominant side it was initially cleared to study. An experimental Rett syndrome gene therapy is set to embark on a phase 1/2 trial this year. The therapy, called NGN-401 and developed by New York-based Neurogene, improved survival rates and phenotypes in animals modeling Rett syndrome. In male mice modeling Rett syndrome, blocking the fat hormone leptin with a drug or genetic manipulation improves breathing and movement issues, supports healthy body weight, and prevents the usual degradation of overall health, according to an unpublished study posted to bioRxiv in February. A cannabis-based fragile X treatment is in phase 3 trials, and an interim analysis presented last year hinted that it had improved social behavior and eased some fragile X traits. But independent experts have voiced concerns about whether it will be affordable and show enough benefit over the current standard of care for fragile X syndrome, Clinical Trials Arena reported in January. People with epilepsy have begun receiving an experimental drug aimed at increasing their natural levels of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA) as part of a randomized, double-blind, placebo-controlled phase 1 trial sponsored by New York-based Ovid Therapeutics. The most common psychotropic medications prescribed to autistic people in Turkey are the atypical antipsychotics risperidone and aripiprazole, followed by the anticonvulsant drug valproic acid, according to a February study in International Clinical Psychopharmacology. Fragile X model mice treated with the experimental antipsychotic drug pirenperone show increased expression of FMR1, the gene implicated in the condition. Researchers identified this drug as a candidate through a data-driven screening method using genetic samples from people with and without fragile X. Of the 210 drugs the FDA approved between 2018 and 2021, 21 showed no significant benefit over a placebo in one or more of their primary outcomes in clinical trials, according to a study in JAMA Internal Medicine. The blood pressure drug bumetanide continued to show no significant benefits for children and teenagers with autism, according to a January reanalysis of data from a phase 2 trial that published its initial results in 2021. Two subsequent phase 3 trials were terminated early in 2021 after the drug failed to show benefit over a placebo. »...

«Une jeune fille aveugle (13 ans) souffrant de troubles autistiques a créé la sensation lors du tournage de la nouvelle émission de télévision britannique "The Piano". Au milieu d'une gare très fréquentée, elle a joué sans complexe un morceau compliqué de Chopin au piano. Le célèbre pianiste professionnel Lang Lang, présent parmi les jurys, est resté sans voix. D’ailleurs, à la fin de sa performance dans “Le piano”, on peut la voir mettre ses doigts dans ses oreilles. Elle apprécie les applaudissements, mais ne supporte pas très bien le bruit.»
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«La jeune fille a appris à connaître les morceaux en posant ses mains sur celles de son professeur Daniel lorsqu’il jouait. Lucy apprécie la musique en bougeant tout son corps, surtout sa tête. Pendant les cours, Daniel l’aide parfois à garder la tête un peu plus calme, pour qu’elle reste concentrée sur ses doigts D’ailleurs, à la fin de sa performance dans “Le piano”, on peut la voir mettre ses doigts dans ses oreilles. Elle apprécie les applaudissements, mais ne supporte pas très bien le bruit. »...

«Scientists are reporting a breakthrough discovery: A $3-per-pill epilepsy drug may be used to "switch off" autism symptoms in mice, according to a new peer-reviewed study published Tuesday in Molecular Psychiatry journal.Autism spectrum disorder is a complex developmental condition that impacts how an estimated 5.4 million (2.2% of) adults ...” and one in 44 children ...” in the United States perceives and socializes with others. It is often accompanied by abnormalities such as epilepsy or hyperactivity, according to Centers for Disease Control and Prevention data.A team of experts at Germany's Hector Institute for Translational Brain Research found that the medication lamotrigine ...” an anti-seizure drug first approved for use in the US in 1994 ...” was able to curb behavioral and social problems linked to the disorder.Now, their findings are being hyped as the closest thing yet to a potential cure for humans These proteins are critical for electrical conductivity and cell function as they allow sodium ions to travel through the cell membrane. Nerve cells that overproduce these sodium channels can result in electrophysiological hyperactivation — a common symptom of autism.»
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«Researchers noted that the most “striking” reaction was the discovery that the MYT1L-deficient neurons produced extra sodium channels that are typically restricted to cells in the heart muscle. These proteins are critical for electrical conductivity and cell function as they allow sodium ions to travel through the cell membrane. Nerve cells that overproduce these sodium channels can result in electrophysiological hyperactivation — a common symptom of autism. “When MYT1L-deficient nerve cells were treated with lamotrigine, their electrophysiological activity returned to normal. In mice, the drug was even able to curb ASD-associated behaviors such as hyperactivity,” the statement continued. »...

«AbstractMYT1L is an autism spectrum disorder (ASD)-associated transcription factor that is expressed in virtually all neurons throughout life. How MYT1L mutations cause neurological phenotypes and whether they can be targeted remains enigmatic. Here, we examine the effects of MYT1L deficiency in human neurons and mice. Mutant mice exhibit neurodevelopmental delays with thinner cortices, behavioural phenotypes, and gene expression changes that resemble those of ASD patients. MYT1L target genes, including WNT and NOTCH, are activated upon MYT1L depletion and their chemical inhibition can rescue delayed neurogenesis in vitro. MYT1L deficiency also causes upregulation of the main cardiac sodium channel, SCN5A, and neuronal hyperactivity, which could be restored by shRNA-mediated knockdown of SCN5A or MYT1L overexpression in postmitotic neurons. Acute application of the sodium channel blocker, lamotrigine, also rescued electrophysiological defects in vitro and behaviour phenotypes in vivo. Hence, MYT1L mutation causes both developmental and postmitotic neurological defects. However, acute intervention can normalise resulting electrophysiological and behavioural phenotypes in adulthood.»...

«Adolescents who feel a greater sense of purpose may be happier and more satisfied with life than peers who feel less purposeful, suggests a recent study of more than 200 teens.Studies with adults have suggested that a sense of purpose in life is an integral component of well-being that fuels hope and optimism and has a variety of positive effects on individuals' physical and mental health.However, less is known about the effects of purposefulness in adolescents, who, while characteristically hopeful, are in the throes of developing their identities, making choices that reflect who they are and aspire to be, according to the study.»
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« Published in the Journal of Happiness Studies, the project also examined how subclinical autistic traits that fell below the diagnostic threshold for autism – behavioral and cognitive patterns such as poor social skills and difficulty shifting one’s attention – related to these teens’ sense of purpose in life and their overall happiness. Each day for 70 days, the participants – teens ages 14-19 – were asked to rate how purposeful they felt, how satisfied they were with their life and the levels of positive and negative emotions they were feeling. All of those in the study were participants in GripTape, a nationwide nonprofit in the U.S. that strives to instill a sense of agency in youths by providing them with the resources to pursue a 10-week Learning Challenge project of their choosing. »...

«Abstract Despite being a valued resource for adolescent health and development, the field maintains an incomplete view of how youths' sense of purpose in life corresponds with their subjective well-being (SWB; i.e., greater life satisfaction and positive affect, lower negative affect). These blind spots are especially noticeable at the daily level, and the field further fails to consider how daily associations between purpose and SWB might vary across important individual differences. This study addresses these gaps in the literature using a daily diary approach to track adolescents (N = 204; Mage = 16.42 years; 70.1% female) across approximately 70 days of enrollment in GripTape, a U.S.-based out-of-school time program that supports engagement with personally meaningful activities. We found that on days teens felt more purposeful than usual, they tended to report greater SWB. Moreover, we failed to find evidence that subclinical autistic traits, an individual difference that corresponded with lower daily SWB ratings, moderated the observed daily benefits of feeling more purposeful than usual. With one of the longest consecutive studies of youth well-being to date, our work shows that day-to-day fluctuations in purpose are a useful addition to the adolescent SWB landscape. Following this necessary observational groundwork, future research may invest in creating and testing purpose opportunities for a more inclusive range of youth.»...

«Le décret n° 2022-570 du 19 avril 2022 prévoit d'améliorer l'accès à la PCH pour les personnes ayant une altération de fonctions mentales, psychiques, cognitives ou un trouble neurodéveloppemental (TND) à partir du 1er janvier 2023. Il élargit à la fois les critères d'éligibilité générale à la PCH et d'éligibilité à la PCH aide humaine. Il crée un nouveau domaine d'aide humaine, le « soutien à l'autonomie », qui va au-delà du soutien aux «Â actes essentiels de la vie courante » pour répondre aux besoins spécifiques d'assistance aux personnes présentant un handicap lié à des altérations de fonctions mentales.»...

«AbstractPsycholinguistic research on pragmatics in the neurotypical population has increasingly framed pragmatic competence and related cognitive skills in terms of individual differences, co-constructed discourse, and meaning negotiation. However, research on pragmatics in the Autism Spectrum has risen from a wide and biased view of autistic communication as fundamentally compromised and autistic pragmatic abilities as impaired. Mostly due to the impactful theory of a deficit in Theory of Mind, early research on autistic communication presumed a unitary pragmatic impairment, only to find that several pragmatic abilities seem to be "preserved." However, the interpretation of these findings usually takes an ableist turn, as most studies subsequently suggest that surface-level performance should not be interpreted as competence, but rather as a result of "compensatory" strategies. The raising number of contributions from autistic academics and participatory research enriched the field with new perspectives focusing on differences rather than impairments and drawing hypotheses on communication difficulties between neurotypes rather than within a specific neurotype. However, such contributions are hardly ever cited in the most prominent works. In conclusion, the field would benefit from a higher level of citation of autistic-led research and from an epistemological perspective shift within the mostly neurotypical academic community.»...

«NEWS Daily NewsAutism and Cardiometabolic Disease Often Go Hand in HandWhat's driving the increased risk of diabetes, dyslipidemia, and CVD in autistic people...”especially children...”isn't clear-cut.byCaitlin E. CoxFEBRUARY 06, 2023People with autism are at increased risk for developing cardiometabolic disease, including diabetes, dyslipidemia, and CVD, a meta-analysis confirms. The associations are particularly strong for children, suggesting a need to address risk factors at an early age.Autism, with a global prevalence of 23 per 1,000 people, "is associated with multiple medical, neurologic, and psychiatric comorbidities," particularly obesity, that "often exacerbate disparities in the quality of life and life expectancy" of affected individuals, Chathurika S. Dhanasekara, MD, PhD (Texas Tech University Health Sciences Center, Lubbock), and colleagues note in their paper, recently published in JAMA Pediatrics.Senior author Chanaka N. Kahathuduwa, MD, PhD (Texas Tech University Health Sciences Center), said this work was inspired by a prior meta-analysis they'd done on autism and obesity in children. Their latest report contains data from 34 studies, said Kahathuduwa, but "the problem is we can only do observational studies...”it's very difficult to prove causality in associations like this."There are numerous possible drivers for the associations...”from lifestyle to genetics and shared origins...”that could explain the connection, but none have yet been pinned down. "I wish I could give you an answer" on mechanism, he commented to TCTMD.»...

«Une enquête indépendante commandée par L'Arche, publiée le 30 janvier 2023, confirme la large "emprise" qu'a pu exercer Jean Vanier, figure spirituelle catholique décédée en 2019 et accusée d'agressions sexuelles dans un rapport de 2020.31 janvier 2023 ... En février 2020, l'information avait provoqué une onde de choc dans le milieu catholique : l'Arche, une fédération d'associations fondée par Jean Vanier et qui accueille dans 38 pays des personnes ayant une déficience intellectuelle, avait dévoilé un rapport interne mené par un organisme indépendant (Lire : Révélations Jean Vanier : résidents de l'Arche sous le choc ). Ce dernier révélait que Jean Vanier avait eu avec six femmes adultes (et non handicapées), dont certaines vulnérables, "des relations sexuelles, généralement dans le cadre d'un accompagnement spirituel, et dont certaines ont gardé de profondes blessures"»...

«A University of Massachusetts Amherst researcher has been awarded a National Institutes of Health (NIH) grant to study bilingualism in children with autism spectrum disorder (ASD) whose household speaks a language other than English."This is a group that often is excluded from existing research or intervention studies," says Megan Gross, assistant professor of communication disorders in the School of Public Health and Health Sciences. "And I think there's still a lot of misinformation that can get out there to bilingual families about what language to speak at home with their child." To make it possible to include children who do not speak, Gross will use innovative eye-tracking technology to analyze their ability to comprehend bilingual spoken language. A camera at the bottom of a laptop computer will track the child’s eye movement as a word or phrase in English and Spanish is played out loud.»
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«Gross will examine the type of bilingual environment to which children with ASD, ages 4-6, are exposed, as well as the different factors that relate to their ability to speak or understand both Spanish and English. She will also consider the children’s social communication and social-cognitive skills, such as cognitive flexibility, as well as their ability to understand and communicate in two languages. To make it possible to include children who do not speak, Gross will use innovative eye-tracking technology to analyze their ability to comprehend bilingual spoken language. A camera at the bottom of a laptop computer will track the child’s eye movement as a word or phrase in English and Spanish is played out loud. “By following their eye movements over time, we can tell whether they’ve understood the word or phrase that they heard because they should look at the corresponding picture,” Gross says. “This is a group I’m especially interested in including in my study. Even if they are not speaking, we need a way to measure what they are understanding when people are speaking to them in Spanish and English. And what skills might they have that they aren’t able to show us through their spoken language?” »...

«Jean-Luc Martinot, vous venez de montrer que l'on peut évaluer scientifiquement le risque qu'un adolescent âgé de 14 ans développe plus tard des troubles anxieux. Mais tout adolescent est plus ou moins anxieux. Alors, de quoi parle-t-on exactement ?Il s'agit d'«Â angoisse » - autrefois, on parlait de «Â névrose » -, une caractéristique commune à tous les troubles dits «Â anxieux », comme le trouble panique, le trouble d'anxiété sociale, le trouble anxieux généralisé, les phobies et les TOC. Environ un adolescent sur trois serait concerné, mais la plupart de ces maladies mentales se développent progressivement, de sorte que, en général, on ne peut poser de diagnostic psychiatrique qu'à la fin de l'adolescence ou au début de l'âge adulte, entre 18 et 25 ans.»
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« Dans notre pays, on dispose d’un programme de repérage précoce et d’intervention brève pour des addictions ou des « usages à risque », mais il concerne plutôt les individus de 25 ans et au-delà : c’est vraiment tard ! Je le dis à nouveau : avant 16 ans, le cerveau est dans une période de vulnérabilité, mais aussi de plasticité. Entre 18 et 25 ans, sa dynamique de transition vers l’âge adulte est en cours. Plus on attend, plus des symptômes psychopathologiques isolés risquent de s’inscrire durablement et d’évoluer vers des troubles mentaux cliniques. La recherche et l’évaluation d’interventions préventives adaptées seraient donc un moyen de soulager le système de soins psychiatrique, qui, malheureusement, est saturé. Or il y a déjà des outils de détection validés et quelques interventions contrôlées à l’étranger, qui présentent un bon rapport coût-benéfice : reste maintenant à organiser et évaluer, en France, la prévention. »...

«Le décret n° 2022-570 du 19 avril 2022 relatif à la prestation de compensation prévoit d'améliorer l'accès à la PCH pour les personnes ayant une altération de fonctions mentales, psychiques, cognitives ou un trouble neurodéveloppemental (TND) à partir du 1er janvier 2023. La CNSA publie un guide pour accompagner les équipes pluridisciplinaires des maisons départementales des personnes handicapées (MDPH) dans leur mise en oeuvre de cette évolution.L'amélioration de l'accès aux droits et à la compensation des personnes vivant avec une altération des fonctions mentales, psychiques, cognitives ou avec un TND a été identifiée comme une priorité forte lors de la Conférence nationale du handicap (CNH) du 11 février 2020.Le décret du 19 avril 2022 fait suite au rapport de synthèse pour un décret d'adaptation du référentiel d'accès à la PCH pour les personnes en situation de handicap du fait d'altérations des fonctions mentales, cognitives, psychiques (nouvelle fenêtre, PDF, 7.91 Mo), publié en mai 2021 par l'Union nationale de familles et amis de personnes malades et/ou handicapées psychiques (UNAFAM), Autisme France, HyperSupers TDAH et l'UNAPEI, aux propositions du rapport Leguay et à une expérimentation menée dans trois MDPH (Ardennes, Gironde, Vosges) entre octobre 2021 et mars 2022. Il vise à améliorer l'accès à la PCH pour les personnes ayant une altération de fonctions mentales, psychiques, cognitives ou avec un TND.»
[...]
« Documents à télécharger Prestation de compensation du handicap. Mise en œuvre du décret n° 2022-570 du 19 avril 2022, articles 2 et 3 - accessible (PDF, 1.48 Mo) »...
Source: http://www.cnsa.fr | Source Status

«Le décret n° 2022-570 du 19 avril 2022 relatif à la prestation de compensation prévoit d'améliorer l'accès à la PCH pour les personnes ayant une altération de fonctions mentales, psychiques, cognitives ou un trouble neurodéveloppemental (TND) à partir du 1er janvier 2023. La CNSA publie un guide pour accompagner les équipes pluridisciplinaires des maisons départementales des personnes handicapées (MDPH) dans leur mise en oeuvre de cette évolution.L'amélioration de l'accès aux droits et à la compensation des personnes vivant avec une altération des fonctions mentales, psychiques, cognitives ou avec un TND a été identifiée comme une priorité forte lors de la Conférence nationale du handicap (CNH) du 11 février 2020.Le décret du 19 avril 2022 fait suite au rapport de synthèse pour un décret d'adaptation du référentiel d'accès à la PCH pour les personnes en situation de handicap du fait d'altérations des fonctions mentales, cognitives, psychiques (nouvelle fenêtre, PDF, 7.91 Mo), publié en mai 2021 par l'Union nationale de familles et amis de personnes malades et/ou handicapées psychiques (UNAFAM), Autisme France, HyperSupers TDAH et l'UNAPEI, aux propositions du rapport Leguay et à une expérimentation menée dans trois MDPH (Ardennes, Gironde, Vosges) entre octobre 2021 et mars 2022. Il vise à améliorer l'accès à la PCH pour les personnes ayant une altération de fonctions mentales, psychiques, cognitives ou avec un TND.»
[...]
« Documents à télécharger Prestation de compensation du handicap. Mise en œuvre du décret n° 2022-570 du 19 avril 2022, articles 2 et 3 - accessible (PDF, 1.48 Mo) »...
Source: http://www.cnsa.fr | Source Status

«WEST JORDAN ...” Veronica Bernard was worried for her son, Jacob, when he was 4 years old and hadn't yet said the word "mom." She knew he was smart ...” he knew colors and shapes and could point to things ...” but he had yet to put his thoughts into words.A pediatrician suggested that Jacob be tested for autism. They got in to see a specialist after 2½ months of waiting, but Bernard said the testing took weeks."There were several appointments that were dragged on, and some of them I had to reschedule because he wouldn't cooperate or he didn't want to sit down," she said. "For a parent, that's emotionally and mentally draining." Hanna said the new questionnaire might not be enough for parents to get the services their child may need.»
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« Is an official diagnosis necessary? Hanna said the new questionnaire might not be enough for parents to get the services their child may need. "The big question would be if a parent utilizes this tool, and it looks like the child may be on the spectrum, then what?" she said. "They need a formal diagnosis to access a lot of services." Rivera had suspected her son was autistic long before his clinical diagnosis, but that diagnosis opened their family up to a world of benefits. "Getting the diagnosis helped understand what was going on in his brain and how to help him and empathize … and then it helped because we were able to get into behavior therapy," Rivera said. "With behavior therapy, that came along with parent training, and parent training literally saved our family." Bernard said a medical diagnosis is required for an autistic child to receive assistance through a Utah public school. But she also pointed to many resources parents and children can access without that. "There's so much information on the internet. There are so many books now," Bernard said. "There are so many different parents advocating for so many different things if you just get on Instagram alone." Bernard also urged other parents with autistic children to go with their "parental gut instinct" when it comes to dealing with teachers and doctors. "Keep fighting," she said. "Keep fighting for your kids, because it's going to amount to something someday, and then in turn, they're going to learn how to fight too." »...

«AbstractAim: To describe the development and initial psychometric evaluation of a new, freely available measure, the Autism Symptom Dimensions Questionnaire (ASDQ).Method: After development and revision of an initial 33-item version, informants completed a revised 39-item version of the ASDQ on 1467 children and adolescents (aged 2-17 years), including 104 with autism spectrum disorder (ASD). Results: The initial 33-item version of the ASDQ had good reliability and construct validity. However, only four specific symptom factors were identified, potentially due to an insufficient number of items. Factor analyses of the expanded instrument identified a general ASD factor and nine specific symptom factors with good measurement invariance across demographic groups. Scales showed good-to-excellent overall and conditional reliability. Exploratory analyses of predictive validity for ASD versus neurotypical and other developmental disability diagnoses indicated good accuracy for population and at-risk contexts.»
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« Results: The initial 33-item version of the ASDQ had good reliability and construct validity. However, only four specific symptom factors were identified, potentially due to an insufficient number of items. Factor analyses of the expanded instrument identified a general ASD factor and nine specific symptom factors with good measurement invariance across demographic groups. Scales showed good-to-excellent overall and conditional reliability. Exploratory analyses of predictive validity for ASD versus neurotypical and other developmental disability diagnoses indicated good accuracy for population and at-risk contexts. Interpretation: The ASDQ is a free and psychometrically sound informant report instrument with good reliability of measurement across a continuous range of scores and preliminary evidence of predictive validity. The measure may be a useful alternative to existing autism symptom measures but further studies with comparison of clinical diagnoses using criterion-standard instruments are needed. ____ Téléchargements Autism Symptom Dimensions Questionnaire (ASDQ) final 220105.docx Autism Symptom Dimensions Questionnaire (ASDQ) final 220105.pdf
Source: https://osf.io | Source Status »...
Source: http://pubmed.ncbi.nlm.nih.gov | Source Status

«L'intelligence artificielle (IA), un allié de poids pour prévenir les troubles anxieux ? Plusieurs études ont mis en évidence le pouvoir prédictif de cette technique dans le cadre de troubles psychiques comme la dépression ou les addictions. Mais aucune ne s'était penchée sur les troubles anxieux... C'est désormais chose faite. Des chercheurs du laboratoire « Trajectoires développementales et psychiatrie » (Inserm) et du Centre Borelli (CNRS) ont identifié, grâce à l'IA, des signes avant-coureurs, à l'adolescence, qui augmentent « significativement » le risque de développer des troubles anxieux à l'âge adulte. Les résultats de l'étude ont été publiés dans la revue scientifique Molecular Psychiatry en décembre 2022.»
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«3 signes : neuroticisme, désespoir, symptômes émotionnels Trois signes prédicteurs majeurs ont été mis en évidence. Primo, le neuroticisme, qui désigne une tendance persistante à ressentir des émotions négatives (peur, tristesse, gêne, colère, culpabilité, dégoût...), une mauvaise maîtrise des pulsions et une inadaptation face aux stress. Secundo, le désespoir, associé à un faible score de réponses aux questions évaluant l'optimisme et la confiance en soi. Enfin, les symptômes émotionnels recouvrent les réponses indiquant des symptômes tels que « des maux de tête et d'estomac », « beaucoup de soucis, souvent inquiet », « souvent malheureux, abattu ou larmoyant », « nerveux dans les nouvelles situations, perd facilement confiance », « a facilement peur ». D'autres signes avant-coureurs ont été hiérarchisés pour chaque individu, par exemple les liens familiaux, la consommation d'alcool, la détresse, l'âge, un accident, le degré d'autonomie... Cette découverte pourrait « permettre de détecter les personnes à risque plus tôt et de leur proposer une intervention adaptée et personnalisée, tout en limitant la progression de ces pathologies et leurs conséquences sur la vie quotidienne », se félicite Jean-Luc Martinot, directeur de recherche à l'Inserm et pédopsychiatre, co-auteur de l'étude. »...

«Adults with high levels of attention-deficit hyperactivity disorder (ADHD) symptoms are more likely to experience anxiety and depression than adults with high levels of autistic traits, according to new research led by psychologists at the University of Bath in the UK.This study is the first to show that ADHD is more predictive of poor mental health outcomes in adults than other neurodevelopmental conditions, like autism.Until now, there has been a dearth of information on the effects of ADHD on poor mental health, with far more research focusing on the impact of autism on depression, anxiety and quality of life. As a result, people with ADHD have often struggled to access the clinical care they need to cope with their symptoms.The authors of the study hope their findings will trigger new research into ADHD and ultimately improve the mental health outcomes for people with the condition. ADHD is a neurodevelopmental condition characterized by inattention and/or hyperactivity and impulsivity. The condition is estimated to affect between 3% and 9% of the population»...

«As pediatric gastroenterologist Kara Gross Margolis, MD, was beginning her research career, an early opportunity to work with colleagues in the field of psychiatry led her ultimately to subspecialize and develop expertise in brain-gut axis disorders. That early work...”devising screening criteria to diagnose gastrointestinal conditions in patients with autism spectrum disorder...”has blossomed into a subspeciality in a pediatric community for which families seek her out.Remembering those early days, Dr. Gross Margolis told Gastroenterology & Endoscopy News, "It was really at that point that I realized just how common gastrointestinal problems were in autism. And obviously, as a gastroenterologist, it really struck a chord with me of ˜how could this be related to autism?'" Diagnosing and treating gastrointestinal complaints in children with autism spectrum disorder can be difficult but are increasingly important as more research shows that GI conditions can worsen ASD symptoms. Kara Gross Margolis, MD, who co-authored an overview of GI and ASD in Psychiatric Clinics of North America (2021;44[1]:69-81), walked us through different aspects that providers can incorporate into their office visits.»
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« Tips for Managing Patients With GI Issues and ASD Diagnosing and treating gastrointestinal complaints in children with autism spectrum disorder can be difficult but are increasingly important as more research shows that GI conditions can worsen ASD symptoms. Kara Gross Margolis, MD, who co-authored an overview of GI and ASD in Psychiatric Clinics of North America (2021;44[1]:69-81), walked us through different aspects that providers can incorporate into their office visits. Understand symptoms. Many children with ASD may not be able to explain the symptoms they are experiencing. They can be nonverbal or have poor sensory localization. However, as Dr. Gross Margolis said, new-onset challenging behaviors, hyperactivity, sleep issues and worsening of other ASD symptoms could be signals of GI problems. Dr. Gross Margolis advises a full GI evaluation, at the very least with a comprehensive history and physical, and in some cases considering endoscopy. Gastrointestinal problems can be missed when clinicians do not connect GI issues to behaviors such as withdrawal, anxiety, self-injury or aggression, she said. Ask about diet. Some children with ASD may only eat extremely selectively or could be on exclusion diets to help manage symptoms. Food selectivity can be associated with GI issues, Dr. Gross Margolis said, and there are some indicators that lower food diversity in the diet can be related to changes in stool inconsistency and changes in the gut microbiota (Cell 2021;184[24]:5916-5931). “I think understanding how diet plays a role is going to be really important.” Review medications. Medications need to be fine-tuned for this patient population because many drugs prescribed for ASD symptoms can have prominent GI side effects. “We often try to figure out if there’s a medication that’s causing a GI problem, and if there’s a substitute or if it’s more important to treat that psychiatric problem with that specific medication, and maybe go to a different type of gastrointestinal treatment.” Don’t forget the supplements. Many of these patients are on a long list of supplements. Large doses or certain kinds can cause side effects. For example, individuals with ASD are often placed on probiotics and/or fish oil, she said, which can cause nausea, bloating and diarrhea. Listen to parents. “Parents know their kids,” she said, noting that this is supported by data. One study found that parents were right about their child with ASD’s GI issue 90% of the time (Autism Res 2012;5[2]:101-108). Be optimistic. Being hopeful can go a long way, especially to a family that is struggling with their child’s symptoms. Mention that research is ongoing, and new treatments and better understanding of symptom interplay are on the horizon. »...

«Abstract Prospective birth cohorts offer unprecedented opportunities to investigate the pathogenesis of complex disorders such as autism, in which gene-environment interactions must be appreciated in a temporal context. This Perspective article considers the history of autism research, including missteps that reflected an incomplete understanding of the epidemiology of autistic spectrum disorders, the effects of advocacy and philanthropy on the trajectory of scientific inquiry, and the current and future roles of prospective birth cohort research in illuminating the pathology of these and other complex disorders wherein exposures during gestation might not manifest until later in life.»
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« Figure 1 shows a timeline of seminal events in the history of biomedical research in autism. Although initially characterized as psychosis74,75,76, from the 1970s onwards autism was reframed as a developmental disorder with a heritable component15,77,78,79,80,81. Various exposures were subsequently identified as contributing to the risk of autism spectrum disorder, the understanding of which continues to evolve5,16,17,19,20,25,82,83,84,85,86,87,88,89. Special projects initiated and supported by The National Alliance for Autism Research and Cure Autism Now include the Autism Tissue Program brain bank, the Autism Genetic Resource Exchange and the High-Risk Baby Siblings Consortium. »...

«Children with autism often struggle to identify emotional cues in other people's voices because of differences in the wiring and function of a key social center in their brains, according to a new study from the Stanford School of Medicine. “Children typically learn to map certain sounds in people’s voices onto particular emotions,” said the study’s co-lead author, Daniel Abrams, PhD, clinical associate professor of psychiatry and behavioral sciences at Stanford Medicine.»
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« The findings, published online Jan. 9 in Biological Psychiatry: Cognitive Neuroscience and Neuroimaging, offer an explanation for the neurological origin of a key social challenge in autism. They also provide clues as to the type of therapy that might help, according to the researchers. “Children typically learn to map certain sounds in people’s voices onto particular emotions,” said the study’s co-lead author, Daniel Abrams, PhD, clinical associate professor of psychiatry and behavioral sciences at Stanford Medicine. “If Mom or Dad is unhappy, a little kid will know that before understanding all the words,” Abrams said, noting that young children recognize slow, low-pitched speech as showing sadness. “But kids with autism have trouble mapping vocal features onto emotion. Before this study, we didn’t know why the brains of people with autism have a roadblock for identifying and recognizing these vocal cues.” »...

«Le décret du 3 octobre 2022 rappelle, après la loi, l'obligation pour les collectivités de plus de 10 000 habitants ou employant plus de 50 agents d'établir une procédure de recueil des alertes éthiques. Samuel Dyens, avocat associé au cabinet Goutal, Alibert et associés, le décrypte pour La Gazette.»...

«Le décret du 3 octobre 2022 rappelle, après la loi, l'obligation pour les collectivités de plus de 10 000 habitants ou employant plus de 50 agents d'établir une procédure de recueil des alertes éthiques. Samuel Dyens, avocat associé au cabinet Goutal, Alibert et associés, le décrypte pour La Gazette.»...

«AbstractBackgroundAnxiety is prevalent among autistic individuals, but less is known about the different anxiety problems autistic adolescents and young adults experience and the main behavioral manifestations of their anxiety. This study investigated these issues and the relation between the overall level of anxiety and a range of factors in autistic adolescents and young adults, including autism traits, challenging behaviors, adaptive behavior, sleep problems, and gastrointestinal issues.Method66 parents of autistic adolescents and young adults completed an interview and responded to questionnaires on their children's anxiety, autism traits, sensory processing, challenging behaviors, adaptive behavior, and medical issues.ResultsThe most frequently parent-endorsed moderate and severe anxiety problems were related to social situations, new situations, upcoming events, loud noises, and changes in routine. In contrast, parents were least likely to endorse anxiety problems related to being separated from others, being noticed, or being late. Regarding anxiety-related behaviors, parents frequently endorsed avoidance, requiring constant reassurance, performing repetitive behaviors, shutting down, and overreacting to changes. Individuals with more severe social cognition difficulties, restricted and repetitive behaviors (RRBs), and chronic sleep problems demonstrated elevated levels of anxiety. Chronic sleep problems emerged as the primary concurrent predictor of anxiety in autistic adolescents and young adults and mediated the association between RRBs and anxiety.»
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« Conclusions Future anxiety treatment should consider targeting sleep problems simultaneously for autistic adolescents and young adults. »...

«Abstract Many autistic adults experience public stigma and some internalise this stigma with negative effects on their mental health. While efforts to reduce public stigma are paramount, change can be slow, and interventions to prevent internalised stigma may also be needed. Using a mixed methods online survey, we gathered the views of 144 autistic adults and parents/caregivers of autistic people in the United Kingdom on whether a stigma-related support programme for autistic adults is needed and, if so, what it should ...˜look' like. Quantitative data (summarised descriptively) showed that most participants felt it was important for autistic adults to have support in managing stigma and revealed diverse preferences in terms of programme delivery, underscoring the need for flexibility. Using reflexive thematic analysis, four main themes were identified from the qualitative data: (1) ...˜We need to change society not autistic people', (2) ...˜Stigma is difficult to manage alone', (3) ...˜Focus on positive, practical support', and (4) ...˜There is no one size fits all approach'. We discuss the important implications our findings have for how future interventions in this area are framed and delivered.»...

«En matière de protection de l'enfance, plusieurs nouveautés issues de la loi Taquet de février 2022 entrent en vigueur en ce début d'année 2023 : l'approbation du référentiel de la HAS comme cadre de référence d'évaluation des informations préoccupantes, la possibilité pour les départements d'expérimenter avec l'Etat un comité départemental pour la protection de l'enfance ou encore le démarrage du GIP "France enfance protégée" réunissant le 119, l'Observatoire national de la protection de l'enfance, l'Agence française de l'adoption et les secrétariats des trois conseils nationaux de l'accès aux origines personnelles, de l'adoption et de la protection de l'enfance. Tour d'horizon des différents textes réglementaires concernés.»...

«1 2. Les évolutions des taux de prise en charge départementaux : des disparités en augmentation L’évolution des taux de prise en charge des mineurs et jeunes majeurs protégés, toutes prestations et mesures confondues (milieu ouvert et accueil) montrent des écarts entre départements, qui non seulement perdurent, mais se creusent entre 2010 et 2020, aussi bien en ce qui concerne les mineurs protégés que l’accompagnement des jeunes majeurs.» [...]
« Des écarts de prise en charge des mineurs qui s’accentuent Entre 2010 et 2020, toutes prestations et mesures confondues, les écarts se sont creusés entre départements. Ainsi, au 31 décembre 2020, le taux de prise en charge des mineurs (suivis en milieu ouvert ou accueillis) varie, selon les départements, de 11,7‰ (Yvelines) à 48,6‰ (Creuse), avec une valeur médiane estimée à 26,1 ‰ ; au 31 décembre 2010, les variations allaient de 9,3 ‰ (Guyane) à 39,2 ‰ (Hautes-Pyrénées). Au 31 décembre 2020, les départements des Yvelines, de Guyane, des Hauts-de-Seine, du Val-deMarne, de la Haute-Savoie, du Val-d’Oise et de l’Ain enregistrent les taux de prise en charge les plus faibles (moins de 15 ‰). À l’inverse, ces taux sont supérieurs à 30 ‰ dans 34 départements,la Creuse et la Nièvre ayant les taux les plus importants, respectivement 48,6 ‰ et 47,8 ‰. »...

«Article 1I.
• Au titre de l'année 2023, le montant du concours mentionné au e) du 3° de l'article L. 14-10-5 du code de l'action sociale et des familles dans sa rédaction issue de l'article 44 de la loi du 23 décembre 2021 susvisée, dénommé Md, attribué à chaque département au titre des surcouts d'allocation personnalisée d'autonomie et de prestation de compensation du handicap liés à l'application du tarif horaire minimal mentionné au I de l'article L. 314-2-1 du même code, est calculé selon la formule suivante :Md2023 = Md2022+ [(Tmin - TdAPA) × NdAPA × (1 - RdAPA) ] + [ (Tmin - TdPCH) × NdPCH × (1 - RdPCH)]où :»
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«- Md2022 est le montant du concours versé au département par la Caisse nationale de solidarité pour l'autonomie au titre de l'année 2022 déterminé en application du décret du 28 avril 2022 susvisé ;
• Tmin est la valeur, en vigueur au 1er janvier 2023, du tarif horaire minimal mentionné au premier alinéa ;
• TdAPA est égal à la moyenne, pondérée par le volume horaire des prestations rendues en 2022, des tarifs horaires en vigueur au 1er septembre 2022, fixés par le département, dans le cadre de l'attribution de l'allocation personnalisée d'autonomie, pour la couverture du coût de ces mêmes prestations rendues par les services mentionnés à l'article L. 313-1-3 du même code aux personnes bénéficiant du droit à ces allocations, lorsque ces tarifs sont inférieurs au tarif minimal mentionné au premier alinéa ;
• TdPCH est égal à la moyenne, pondérée par le volume horaire des prestations rendues en 2022, des tarifs horaires en vigueur au 1er septembre 2022, fixés par le département, dans le cadre de l'attribution de la prestation de compensation du handicap, pour la couverture du coût de ces mêmes prestations rendues par les services mentionnés à l'article L. 313-1-3 du même code aux personnes bénéficiant du droit à ces allocations, lorsque ces tarifs sont inférieurs au tarif minimal mentionné au premier alinéa ;
• NdAPA est égal au volume horaire total des prestations, rendues dans le département en 2022, dans le cadre de l'allocation personnalisées d'autonomie, pour lesquelles les tarifs horaires fixés par le département et applicables au 1er septembre 2022 sont inférieurs au tarif minimal mentionné au premier alinéa ;
• NdPCH est égal au volume horaire total des prestations, rendues dans le département en 2022, dans le cadre de la prestation de compensation du handicap, pour lesquelles les tarifs horaires fixés par le département et applicables au 1er septembre 2022 sont inférieurs au tarif minimal mentionné au premier alinéa ;
• RdAPA est le taux moyen, en 2022, de la participation financière des personnes, ayant recours aux services mentionnés à l'article L. 313-1-3 du même code, aux dépenses relevant des plans d'aide élaborés dans le cadre de l'attribution de l'allocation personnalisée d'autonomie ;
• RdPCH est le taux moyen, en 2022, de la participation financière des personnes, ayant recours aux services mentionnés à l'article L. 313-1-3 du même code, aux dépenses relevant des plans d'aide élaborés dans le cadre de la prestation de compensation du handicap. II. - Chaque département communique à la Caisse nationale de solidarité pour l'autonomie le 30 juin 2023 au plus tard, par voie dématérialisée et selon des modalités fixées par cette caisse, les données mentionnées aux six derniers alinéas du I. Sous réserve que le département lui ait communiqué les données mentionnées à l'alinéa précédent à la date du 30 juin 2023, la Caisse nationale de solidarité pour l'autonomie procède au calcul du concours définitif dû à chaque département et à sa notification au plus tard le 30 septembre 2023. Les départements communiquent également à la caisse, à sa demande, toute information nécessaire à l'exercice de sa mission de versement du concours mentionné au présent article. »...

«MEF2C, un gène essentiel au développement du cerveau et à la régulation de la formation des circuits dans le cerveau, joue également un rôle important dans le développement de l'oreille interne. Des mutations de MEF2C ont déjà été associées à des TSA. Les chercheurs ont constaté que les souris ne possédant qu'une seule copie du gène MEF2C présentaient une activité réduite du nerf auditif. "Comprendre comment ce gène peut participer au développement de l'oreille et comment le développement de l'oreille interne affecte le développement du cerveau a d'énormes possibilités d'application", a déclaré Cowan.»
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«Les résultats de cette étude pourraient être importants non seulement pour les patients déficients en MEF2C, mais aussi pour les personnes autistes ou malentendantes en général. "Comprendre comment ce gène peut participer au développement de l'oreille et comment le développement de l'oreille interne affecte le développement du cerveau a d'énormes possibilités d'application", a déclaré Cowan. Dans des études futures, les chercheurs souhaitent découvrir comment MEF2C provoque exactement les changements qui ont été identifiés dans cette étude. L'équipe de recherche espère également explorer ces résultats chez les patients présentant une déficience en MEF2C en utilisant des tests auditifs non invasifs. »...