«Faulty versions of the Foxp2 gene disrupt neurons' ability to form synapses in brain regions involved in speech, a new study shows.Mutations of a gene called Foxp2 have been linked to a type of speech disorder called apraxia that makes it difficult to produce sequences of sound. A new study from MIT and National Yang Ming Chiao Tung University sheds light on how this gene controls the ability to produce speech.In a study of mice, the researchers found that mutations in Foxp2 disrupt the formation of dendrites and neuronal synapses in the brain's striatum, which plays important roles in the control of movement. Mice with these mutations also showed impairments in their ability to produce the high-frequency sounds that they use to communicate with other mice.Those malfunctions arise because Foxp2 mutations prevent the proper assembly of motor proteins, which move molecules within cells, the researchers found."These mice have abnormal vocalizations, and in the striatum there are many cellular abnormalities," says Ann Graybiel, an MIT Institute Professor, a member of MIT's McGovern Institute for Brain Research, and an author of the paper. "This was an exciting finding. Who would have thought that a speech problem might come from little motors inside cells?" .»
[...]
«In the new study, the researchers wanted to explore how the Foxp2 mutation that has been linked with apraxia affects speech production, using ultrasonic vocalizations in mice as a proxy for speech. Many rodents and other animals such as bats produce these vocalizations to communicate with each other. While previous studies, including the work by Liu and Graybiel in 2016, had suggested that Foxp2 affects dendrite growth and synapse formation, the mechanism for how that occurs was not known. In the new study, led by Liu, the researchers investigated one proposed mechanism, which is that Foxp2 affects motor proteins. »...

«Forum européen des personnes handicapées (EDF) et Inclusion Europe c. France Réclamation n° 168/2018 Le Comité européen des droits sociaux, comité d'experts indépendants institué en vertu de l'article 25 de la Charte sociale européenne (« le Comité »), au cours de sa 330e session dans la composition suivante : Karin LUKAS, Présidente Eliane CHEMLA, Vice-Présidente Aoife NOLAN, Vice-Présidente Giuseppe PALMISANO, Rapporteur général Jozsef HAJDUBarbara KRESAL Kristine DUPATE Karin Møhl LARSEN Yusuf BALCI Tatiana PUIU George THEODOSIS Mario VINKOVIC Miriam KULLMANN Assisté de Henrik KRISTENSEN, Secrétaire exécutif adjoint Après avoir délibéré les 18 mai, 6 juillet, 14 septembre et 19 octobre 2022, Sur la base du rapport présenté par Aoife NOLAN, Rend la décision suivante adoptée à cette dernière date :.. .» [...]
« PROCÉDURE La réclamation présentée par le Forum européen des personnes handicapées (EDF) et Inclusion Europe a été enregistrée le mai 2018. Les organisations réclamantes allèguent que la France n’a pas mis en œuvre les mesures nécessaires pour garantir dans les faits :
• l’accès suffisant et effectif des personnes handicapées aux services d’aide social et équipements (article 15§3 de la Charte), notamment à ceux qui sont destinés à intégrer les enfants handicapés dans les écoles ordinaires (article 15§3 lu seul et/ou en combinaison avec l’article E de la Charte sociale européenne révisée (« la Charte »)) ;
• l’accès égal et effectif des personnes handicapées aux services sociaux (article 14§1 lu seul ou en combinaison avec l’article E de la Charte) ;
• le droit à la protection contre la pauvreté et l’exclusion sociale (article 30 de la Charte) ;
• l’accès égal et effectif des personnes handicapées au logement (article 31§1 et 3 lu seul et/ou en combinaison avec l’article E) ;
• la jouissance effective, pleine et entière des personnes handicapées, à l’égal du reste de la population, du droit à la protection de la santé en raison notamment du manque d’accessibilité de ces services (article 11§1 de la Charte lu seul et/ou en combinaison avec l’article E). Les organisations réclamantes soutiennent, en outre, qu’en n’assurant pas un accès effectif des personnes handicapées à une vie autonome et incluse dans la société, la France manque à son devoir de protection envers les familles de ces personnes, ce qui place ces familles dans une situation de fragilité et de désavantage (article 16 lu seul et/ou en combinaison avec l’article E). Enfin, selon les organisations réclamantes, l’absence d’accès suffisant des personnes handicapées aux services de proximité spécifiques, y compris à l’aide personnelle et aux services destinés à la population générale, entrave la conciliation entre vie familiale et vie professionnelle des travailleurs qui assurent en tout ou en partie l’accompagnement de leur(s) proche(s) handicapé(s), par rapport aux autres travailleurs ayant des responsabilités familiales (article 27§1 lu seul et/ou en combinaison avec l’article E de la Charte). Le 16 octobre 2018, le Comité a déclaré la réclamation recevable, conformément à l'article 6 du Protocole additionnel à la Charte sociale européenne prévoyant un système de réclamations collectives ("le Protocole"). Dans sa décision sur la recevabilité, le Comité a invité le Gouvernement à soumettre par écrit, avant le 19 décembre 2018, un mémoire sur le bien-fondé de la réclamation en application de l’article 7§1 du Protocole et de l’article 31§1 du Règlement du Comité (« le Règlement »). En application de l’article 7§§1 et 2 du Protocole et de l’article 32§§1 et 2 de son Règlement, le Comité a invité les États parties au Protocole et les États ayant fait une déclaration au titre de l’article D§2 de la Charte, ainsi que les organisations internationales d’employeurs ou de travailleurs visées à l’article 27§2 de la Charte de 1961, à lui transmettre leurs éventuelles observations sur le bien-fondé de la réclamation avant le 19 décembre 2018. Conformément à l’article 7§1 du Protocole et en application de l’article 28§2 du Règlement, le Président du Comité a décidé, à la demande du Gouvernement défendeur, de proroger au 15 janvier 2019 la date limite de présentation du mémoire du Gouvernement sur le bien-fondé de la réclamation. Le mémoire du Gouvernement sur le bien-fondé de la réclamation a été enregistré au secrétariat le 15 janvier 2019. Le 22 janvier 2019, conformément à l’article 31§2 du Règlement, le Président du Comité a invité EDF et Inclusion Europe à soumettre une réplique à ce mémoire avant le 20 mars 2019. La réplique d’EDF et Inclusion Europe a été enregistrée le 20 mars 2019. Conformément à l’article 31§3 du Règlement, le Président du Comité a invité le Gouvernement à soumettre une nouvelle réplique avant le 10 mai 2019. En réponse à la lettre du 5 mars 2020 de la présidence de la Commission nationale consultative des droits de l’homme (ci-après « CNCDH ») demandant l’autorisation de soumettre des observations dans le cadre de la présente réclamation, le Président du Comité a invité, conformément à l’article 32A§1 du Règlement, la CNCDH à soumettre des observations écrites sur la présente espèce avant le 14 avril 2020. Les observations de la CNCDH ont été enregistrées le 4 juin 2020. La réponse du Gouvernement aux observations de la CNCDH a été enregistrée au secrétariat le 7 décembre 2020. A la suite de la demande de la Défenseure française des droits de soumettre des observations dans le cadre de la présente réclamation, le Président du Comité a invité, conformément au Protocole et à l’article 32A§1 du Règlement, la Défenseure des droits à soumettre ses observations écrites sur la présente espèce avant le 31 mars 2021. Les observations de la Défenseure des droits ont été enregistrées le 26 mars 2021. Le Président du Comité a invité les organisations réclamantes et le Gouvernement à soumettre d’éventuelles réponses à ces observations avant le 25 mai 2021. Conformément à l’article 7 du Protocole et à l’article 28§2 du Règlement, le Président du Comité a accepté la demande du Gouvernement et prorogé le délai pour soumettre sa réplique aux observations de la Défenseure des droits au 11 juin 2021. La réponse du Gouvernement a été enregistrée le 16 juin 2021. »...

«1 Synthèse Les proches aidants : une population hétérogène Proposition de grille d’analyse pour rendre compte de la diversité des situations des proches aidants de personnes vivant à domicile et cerner celles dont le vécu est le plus difficile Thomas Blavet (DREES, Institut des Politiques Publiques, Paris School of Economics), Yann Caenen (DREES)»...

«Un établissement au bord du gouffre, un climat social délétère, du harcèlement ? C'est la situation que décrivent des salariés et des parents d'élèves de l'IME Claude-Joly à Marzy. Cet établissement médico-social de la Sauvegarde 58, a connu 10 démissions en 2022 et presque autant d'arrêts maladie pour "burn-out". En cause, deux cheffes de services désignées comme responsables. La direction reconnait des négligences, mais se défend.Rien ne va plus à l'IME Claude-Joly de Marzy (Institut médico-éducatif) ? C'est en tout cas ce que laissent penser des salariés, des parents d'enfants suivis, et l'ancienne directrice adjointe.» [...]
« Au sujet des maltraitances, l’ancienne directrice adjointe déclare dans le rapport que : "L’IME Claude-Joly n’est pas réellement sensibilisé à la question de la bientraitance. Bien au contraire, la maltraitance et la négligence sont de rigueur. Sur le groupe 'enfance' et 'préados' la maltraitance et la malveillance sont prégnantes. Sur le groupe 'enfance', des faits ont été relatés par les professionnels, des écrits ont été transmis aux cheffes de service et sont restés sans aucune réponse." »...

«Cassée debout dresse le portrait d'une femme en lutte pour épargner la destinée des autres, tout en refondant sa propre existence. Les mots de Marie Rabatel sont d'autant plus précieux qu'ils sont rares. Dans la salutaire vague de libération mondiale de la parole, celle des personnes en situation de handicap peine à se faire entendre, alors qu'elles sont au moins deux fois plus victimes de violences sexuelles. 90 % des femmes autistes, comme Marie, ont en subi. Les enfants ayant une déficience intellectuelle ont cinq fois plus de risques d'être victimes d'abus sexuels que les autres enfants. Pour faire avancer cette cause qu'elle incarne de toute son âme et dans sa chair, Marie Rabatel enchaine actions et prises de parole. Cette bataille, Marie la mène pour les autres. En ce qui la concerne, c'est trop tard. Cassée par les violences qu'elle a subies, elle vit désormais par le combat et pour le combat.»...

«SPECIAL REPORT: CHILD AND ADOLESCENT PSYCHIATRY"I have autism. All my friends say so," announced "Asher," the cheerful nonbinary 17-year-old sitting in my office. "I need a diagnosis for school so I can be excused from class when I get overwhelmed." I was taken aback. Asher was one of the most engaging, expressive, and social adolescents in our Partial Hospital program, and they had no history of developmental concerns of any kind. Subsequent interviews with their mother, teacher, and therapist revealed no symptoms related to autism, except for sensitivity to loud noises. However, relating my opinion to Asher that they do not have autism was met not with relief but frustration: "I do have autism. You just don't get it." As clinicians, we can and should help all patients pursue healthy ways to address unmet psychological needs, including these patients influenced by social media. For example, if a patient reports online ruminations about depression function to garner social support, we may encourage that patient to meet this need elsewhere, such as engaging in team sports or after-school activities that provide social opportunities, or arranging in-person recreational time with a peer or family member. For adolescents whose social media involvement appears excessive, scheduled breaks may be helpful, such as implementing a new practice of removing screen media from the bedroom or moving the screens to another room during family dinner or homework. In cases in which online access threatens safety or severely impairs functioning, we may consider advising parents to remove internet access entirely for a limited time as a last resort, while also preparing for the contingency that doing so may provoke a crisis, as may be the case for patients who are psychologically dependent on social media connection.»
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«Concluding Thoughts As clinicians, we can and should help all patients pursue healthy ways to address unmet psychological needs, including these patients influenced by social media. For example, if a patient reports online ruminations about depression function to garner social support, we may encourage that patient to meet this need elsewhere, such as engaging in team sports or after-school activities that provide social opportunities, or arranging in-person recreational time with a peer or family member. For adolescents whose social media involvement appears excessive, scheduled breaks may be helpful, such as implementing a new practice of removing screen media from the bedroom or moving the screens to another room during family dinner or homework. In cases in which online access threatens safety or severely impairs functioning, we may consider advising parents to remove internet access entirely for a limited time as a last resort, while also preparing for the contingency that doing so may provoke a crisis, as may be the case for patients who are psychologically dependent on social media connection. The internal lives of adolescents are increasingly influenced by social media interactions, and it is the responsibility of mental health practitioners to incorporate an understanding of this process into assessment and treatment. We must be influencers of a different kind. »...

«2702e réunion, 93e session, Comité des droits de l'enfant (CRC) 09 mai 2023 Examen de la France Rapport du Défenseur des droits au Comité des droits de l’enfant des Nations-Unies Décembre 2022 Dans ce nouveau rapport du Défenseur des droits sur l’effectivité de la Convention internationale des droits de l’enfant1 , en réponse au rapport déposé par le gouvernement français auprès du Comité le 11 juillet 2022, l’appréciation objective et indépendante que notre institution porte est en demi-teinte.»
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« q) ENFANTS HANDICAPES La scolarisation des enfants handicapés (école inclusive) Si la loi n° 2019-791 du 26 juillet 2019 pour une École de la confiance renforce dans son chapitre IV l’école inclusive, les saisines adressées au Défenseur des droits mettent en lumière la persistance de graves entraves dans l’égal accès à l’éducation des enfants en situation de handicap. Ces difficultés ont notamment été soulignées par la Défenseure des droits dans son rapport parallèle de juin 2021 adressé dans la perspective de l’examen de la France sur la mise en œuvre de la CIDPH1. De manière générale, la Défenseure des droits constate toujours que, faute d’un environnement scolaire inclusif, l’école demande encore trop souvent aux enfants en situation de handicap de s’adapter, au risque de les stigmatiser et, in fine, de les exclure. Sur Twitter quelques morceaux choisis comme : Au programme 🇫🇷 les MDPH orientent de plus en plus ... certains élèves en IME...selon des critères opaques ... La @Defenseurdroits constate par ailleurs que le droit à l’éducation n’est pas toujours effectif dans les IME »...
Source: http://inclure.fr | Source Status

«KEY POINTS Autistic adults often first come into contact with medical services because of symptoms of depression, anxiety, or suicidality.Because of this, autism is sometimes misdiagnosed for other conditions...” including mood disorders, ADHD, and personality disorders.Gendered assumptions mean women are more likely to be diagnosed with personality disorders and men with mood or behavioral disorders.»
[...]
«Anyone who feels they have been misdiagnosed should talk to their healthcare provider to get an accurate diagnosis and appropriate treatment. »...

«About a third of children with autism aren't able to speak...”but that doesn't mean they're unable to listen and comprehend, a new study reports.About 1 in 4 kids and teens who have autism and are minimally verbal understand significantly more language than they're able to produce, said lead researcher Yanru Chen, a postdoctoral associate with the Center for Autism Research Excellence at Boston University.The study also revealed that children with better motor and social skills had a greater chance of understanding what people are saying, even if they can't speak themselves."Our findings highlight the importance of supporting language comprehension development in [these] individuals," Chen said. "Clinicians and therapists should consider these skills when planning and implementing interventions, providing instructions that are simple and clear enough to understand so [they] can get the most out of the interventions." Part of the reason that doctors focus on a child's expressive ability is that it's easier to gauge than their ability to understand language.» [...]
« "We tend to focus on the expressive production of language, but effective understanding of language is linked to a lot of other skills," Martinez said. "Languages in many settings have been found to be the most stable predictor of a variety of different skills, in terms of social skills and educational skills and academic achievement and adaptive or independent functioning." Part of the reason that doctors focus on a child's expressive ability is that it's easier to gauge than their ability to understand language. "Babies start babbling at about 6 months old and then, hopefully, around a year they're saying a couple of words," Martinez said. "That's something that's very easy for pediatrician to ask a parent, whereas the receptive language milestones early on tend to be a lot more subtle." Parents should keep an eye for certain milestones in receptive language, Martinez said, Babies younger than 6 months should be responding consistently to different sounds, turning their heads to find the source. By 6 months, babies should start responding to their names, and responding emotionally to different tones of voice from their parents. At 1 year, babies should recognize simple everyday words for objects, and be able to follow some simple commands, like "come here." By a year-and-a-half, children should be able to point to body parts when asked "where is your nose?" or "where are your eyes?" Researchers aren't certain at this time what prevents some kids with autism from making the leap from understanding speech to speaking themselves. "Our lab is testing some hypotheses, including how oral motor functioning, gross motor development and brain responses to speech and sounds may influence … individuals' abilities to speak," Chen said. She noted that even though some of these kids understand speech, "their language comprehension skills still fell behind what we expect to see in typical development." "Our study suggests it is much better to simplify the language you use," Chen said. "Try using minimal instructions, showing, demonstration or visual aids to facilitate communication." »...

«Mutations of a gene called Foxp2 have been linked to a type of speech disorder called apraxia that makes it difficult to produce sequences of sound. A new study from MIT and National Yang Ming Chiao Tung University sheds light on how this gene controls the ability to produce speech.In a study of mice, the researchers found that mutations in Foxp2 disrupt the formation of dendrites and neuronal synapses in the brain's striatum, which plays important roles in the control of movement. Mice with these mutations also showed impairments in their ability to produce the high-frequency sounds that they use to communicate with other mice.Those malfunctions arise because Foxp2 mutations prevent the proper assembly of motor proteins, which move molecules within cells, the researchers found.»...

«Gender-exploratory therapy is growing in popularity—particularly in states that are already working to ban gender-affirming care for trans youth. Last August, Florida's Medicaid stopped reimbursing patients for most forms of gender-affirming care. This is part of a larger push in the state to ban gender-affirming care, which transgender youth can no longer start receiving as of this past March.But there is one kind of care for trans kids that the state seems to be in favor of. In a report on Medicaid coverage of gender-affirming care by Gov. Ron DeSantis and now-former Secretary of the Agency for Healthcare Administration Simone Marstiller, they noted gender-exploratory therapy as a treatment for adolescents who exhibit "gender identity issues."On its face, gender-exploratory therapy, or GET, sounds innocuous...”even beneficial. This type of therapy is typically presented as a "neutral ground between the ...˜radical' gender-affirmative model and ...˜unethical' conversion practices," bioethicist Florence Ashley wrote in a 2022 paper.»...

«Some individuals with autism spectrum disorder (ASD) demonstrate marked behavioral improvements during febrile episodes, in what is perhaps the only present-day means of modulating the core ASD phenotype. Understanding the nature of this so-called fever effect is therefore essential for leveraging this natural temporary relief of symptoms to a sustained efficacious intervention. Toward this goal, we used machine learning to analyze the rich clinical data of the Simons Simplex Collection, in which one out of every six children with ASD was reported to improve during febrile episodes, across multiple ASD domains. Reported behavioral improvements during febrile episodes were associated with maternal infection in pregnancy (OR = 1.7, 95% CI = [1.42, 2.03], P = 4.24 × 10-4 ) and gastrointestinal (GI) dysfunction (OR = 1.46, 95% CI = [1.15, 1.81], P = 1.94 × 10-3 ). Family members of children reported to improve when febrile have an increased prevalence of autoimmune disorders (OR = 1.43, 95% CI = [1.23, 1.67], P = 3.0 × 10-6 ), language disorders (OR = 1.63, 95% CI = [1.29, 2.04], P = 2.5 × 10-5 ), and neuropsychiatric disorders (OR = 1.59, 95% CI = [1.34, 1.89], P < 1 × 10-6 ). Since both GI abnormalities and maternal immune activation have been linked to ASD via proinflammatory.» [...]
«Since both GI abnormalities and maternal immune activation have been linked to ASD via proinflammatory cytokines, these results might suggest a possible involvement of immune dysregulation in the fever effect, consistent with findings in mouse models. This work advances our understanding of the fever-responsive ASD subtype and motivates the future studies to directly test the link between proinflammatory cytokines and behavioral modifications in individuals with ASD. »...

«Is it cool to be autistic now? That seems to be a question a lot of folks are exploring in online discourse, particularly on TikTok. And, honestly, a part of me gets why it has become a "hot topic". Now more than ever, autistic people are visible on mainstream platforms, and their discussions of being neurodivergent have shattered preconceived notions on what autism is. Quinni, the autistic queer teen of the 2022 reboot of Heartbreak High, is the show's breakout character. Chloé Hayden, the actress and disability rights activist who plays her, has been making waves by advocating for representation of autistic people. While some of the discourse I've seen is innocuous at best, most of it is harmful, even dangerous.»
[...]
«My parents knew I was autistic since I was a child, and they were encouraged to seek an evaluation for me by doctors. I had all the signs: delayed and limited speech, lack of facial expressions or interest in playing with others, repetitive movements like rocking back and forth and shaking my head side to side, meltdowns, you name it. Ultimately, my parents never took me to a neuropsychologist because they didn’t want me in special education or be “different”. They wanted to raise me as if I was “just like everyone else”. But I’ve always felt different. I never knew why. It was incredibly fucking isolating. Long story short, my therapist clocked my autism from the very moment we met. It took me a year to book an appointment for an evaluation. On October 20, 2022, I was officially diagnosed with autism spectrum disorder. I’ve written about it before on here, and I’ve been able to do so because I’ve been able to learn how to separate my “writer” persona from my true self. I can pour my heart out online, but also maintain some level of distance. Of course, they still bleed into each other and inform one another. And I still experience soul-crushing anxiety when an article of mine is published because I am being perceived. In “the real world”, I rarely talk about being autistic. Not at work, not in grad school. I barely talk about it with family and my only two real friends. My partner is the one I’m most comfortable sharing my autism with, but even that’s hard sometimes. Letting go years of shame is hard. Most of the time, I’d rather be invisible and unknown. April is Autism Acceptance Month, and now more than ever these thoughts weigh heavy on my mind. Visibility is important, but it puts us at risk in a world that is not built for neurodivergent people. Even though an entire month is dedicated to honor autistic people, neurotypical voices still dominate the conversation because they believe that we can’t speak about our own experiences. »...

«Is it cool to be autistic now? That seems to be a question a lot of folks are exploring in online discourse, particularly on TikTok. And, honestly, a part of me gets why it has become a "hot topic". Now more than ever, autistic people are visible on mainstream platforms, and their discussions of being neurodivergent have shattered preconceived notions on what autism is. Quinni, the autistic queer teen of the 2022 reboot of Heartbreak High, is the show's breakout character. Chloé Hayden, the actress and disability rights activist who plays her, has been making waves by advocating for representation of autistic people. While some of the discourse I've seen is innocuous at best, most of it is harmful, even dangerous.»
[...]
«My parents knew I was autistic since I was a child, and they were encouraged to seek an evaluation for me by doctors. I had all the signs: delayed and limited speech, lack of facial expressions or interest in playing with others, repetitive movements like rocking back and forth and shaking my head side to side, meltdowns, you name it. Ultimately, my parents never took me to a neuropsychologist because they didn’t want me in special education or be “different”. They wanted to raise me as if I was “just like everyone else”. But I’ve always felt different. I never knew why. It was incredibly fucking isolating. Long story short, my therapist clocked my autism from the very moment we met. It took me a year to book an appointment for an evaluation. On October 20, 2022, I was officially diagnosed with autism spectrum disorder. I’ve written about it before on here, and I’ve been able to do so because I’ve been able to learn how to separate my “writer” persona from my true self. I can pour my heart out online, but also maintain some level of distance. Of course, they still bleed into each other and inform one another. And I still experience soul-crushing anxiety when an article of mine is published because I am being perceived. In “the real world”, I rarely talk about being autistic. Not at work, not in grad school. I barely talk about it with family and my only two real friends. My partner is the one I’m most comfortable sharing my autism with, but even that’s hard sometimes. Letting go years of shame is hard. Most of the time, I’d rather be invisible and unknown. April is Autism Acceptance Month, and now more than ever these thoughts weigh heavy on my mind. Visibility is important, but it puts us at risk in a world that is not built for neurodivergent people. Even though an entire month is dedicated to honor autistic people, neurotypical voices still dominate the conversation because they believe that we can’t speak about our own experiences. »...

«Each year in the U.S. the incidence of autism spectrum disorder increases, yet the number of medications to treat the core features of autism remains stuck at zero. Therapies and medications that address related symptoms like sleep, focus and behavioral issues are the current "gold standard" for autism treatment. But what's next?Why is there no medication to treat autism?Although at any given time there are hundreds of ongoing clinical trials testing drugs to treat autism, there are many reasons why none have been proven effective. Autism is a heterogeneous disorder. It isn't caused by a single factor like a bacteria or even a single gene. It's a complex condition that has been linked to myriad genetic changes, as well as a variety of environmental factors. In addition, symptoms and the degree of their impact vary widely, giving rise to the now-famous quote, "If you've met one person with autism, you've met one person with autism."Given all this variability, how can a study definitively show that a medication is working»...

«Each year in the U.S. the incidence of autism spectrum disorder increases, yet the number of medications to treat the core features of autism remains stuck at zero. Therapies and medications that address related symptoms like sleep, focus and behavioral issues are the current "gold standard" for autism treatment. But what's next?Why is there no medication to treat autism?Although at any given time there are hundreds of ongoing clinical trials testing drugs to treat autism, there are many reasons why none have been proven effective. Autism is a heterogeneous disorder. It isn't caused by a single factor like a bacteria or even a single gene. It's a complex condition that has been linked to myriad genetic changes, as well as a variety of environmental factors. In addition, symptoms and the degree of their impact vary widely, giving rise to the now-famous quote, "If you've met one person with autism, you've met one person with autism."Given all this variability, how can a study definitively show that a medication is working»...

«Emmanuel Macron a confirmé mercredi la volonté du gouvernement de généraliser le dispositif Handigynéco, qui prévoit un accompagnement gynécologique pour les femmes en situation de handicap dans les établissements médico-sociaux. Il doit notamment permettre de mieux détecter les violences sexuelles.Emmanuel Macron a annoncé mercredi, lors de la Conférence nationale du handicap, "le déploiement de l'action gynécologique dans les établissements et services médico-sociaux". Le dossier de presse de cette conférence qui se tient tous les trois ans détaille que sur la période 2024-2026, le dispositif Handigynéco doit être "généralisé".Ce dispositif, qui relève des agences régionales de santé (ARS), a été instauré en ÃŽle-de-France en 2016 et a commencé à être déployé en Normandie et en Bretagne ces dernières années. Il permet l'intervention de sages-femmes libérales, volontaires et formées aux questions liées au handicap dans des établissements médico-sociaux Leitha voit cette mesure d'un bon œil, mais elle pointe que "le dispositif vient proposer des consultations respectueuses, ce qui devrait être la norme".»
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«Un dispositif qui devrait "être la norme" Leitha voit cette mesure d'un bon œil, mais elle pointe que "le dispositif vient proposer des consultations respectueuses, ce qui devrait être la norme". "Le but, c'est de créer des consultations qui prennent en compte les besoins des personnes handicapées et ça devrait être la base", appuie-t-elle. Elle juge aussi qu'il s'agit d'une "bonne rustine sur une situation qui ne devrait pas exister: l'institutionnalisation de personnes handicapées". Cette politique consiste à placer sur le long terme une personne handicapée dans une structure séparée en raison de son handicap. En 2021, le Comité des Nations unies pour les droits des personnes handicapées a appelé la France à mettre fin à "l’institutionnalisation systématique sur la base du handicap", qui favorise les violences et les discriminations. En attendant, "il y a aujourd'hui des personnes qui sont dans des institutions et elles ont aussi le droit d’avoir accès à des soins gynécologiques et d’être protégées contre les violences sexuelles", juge Marie Rabatel. »...

«Consultation citoyenne sur la stratégie nationale troubles du neuro-développement : Autisme, Dys, TDAH, TDI Inscrivez-vous pour être informé de l'ouverture Adresse électronique [ ] Format attendu : nom@domaine.org»...

«Le Covid-19 n'est toujours pas qu'un lointain souvenir. Alors que le virus circule encore dans l'Hexagone, avec, selon les derniers relevés, un peu moins de 9 000 nouveaux cas et une trentaine d'admissions en soins critiques par jour, selon Santé publique France, certains patients trainent des symptômes d'une contamination qui ne date pas d'hier. On parle alors de «Covid long» (ou syndrome post Covid-19). La Haute autorité de santé (HAS) s'y intéresse depuis 2021 et actualise régulièrement ses travaux, sous forme de « réponses rapides », en listant notamment les symptômes prolongés de la maladie Jusqu'en janvier 2023, la rubrique dédiée sur le site de la HAS disposait de quatorze fiches techniques, conçues par symptômes et par spécialités (douleurs, fatigue, troubles oculaires, dyspnée…). Elles s'enrichissent dès le mois d'avril 2023 d'une quinzième fiche consacrée aux troubles psychiatriques et psychologiques associés. Un aspect que tente d'ailleurs d'explorer la fondation FondaMental via son site Post Covid NeuroPsy, en ligne depuis novembre 2022 (Lire : Covid long : site pour dépister les troubles neuropsy associés). D'après Santé publique France, deux millions de personnes de plus de 18 ans souffriraient de symptômes neuropsychiatriques post-Covid. Cela se traduit la plupart du temps par de la dépression, de l'anxiété, de la fatigue, du stress, des traumatismes ou encore des troubles de la mémoire. La fiche informative de la HAS a été élaborée à destination des soignants mais aussi des patients, et propose des préconisations quant à leur diagnostic et leur prise en charge. Elle traduit la prise en compte sérieuse par les autorités de ces symptômes dits « invisibles » et qui, pourtant, invalident le quotidien des personnes concernées.» [...]
«Les symptômes psy enfin reconnus Jusqu'en janvier 2023, la rubrique dédiée sur le site de la HAS disposait de quatorze fiches techniques, conçues par symptômes et par spécialités (douleurs, fatigue, troubles oculaires, dyspnée…). Elles s'enrichissent dès le mois d'avril 2023 d'une quinzième fiche consacrée aux troubles psychiatriques et psychologiques associés. Un aspect que tente d'ailleurs d'explorer la fondation FondaMental via son site Post Covid NeuroPsy, en ligne depuis novembre 2022 (Lire : Covid long : site pour dépister les troubles neuropsy associés). D'après Santé publique France, deux millions de personnes de plus de 18 ans souffriraient de symptômes neuropsychiatriques post-Covid. Cela se traduit la plupart du temps par de la dépression, de l'anxiété, de la fatigue, du stress, des traumatismes ou encore des troubles de la mémoire. La fiche informative de la HAS a été élaborée à destination des soignants mais aussi des patients, et propose des préconisations quant à leur diagnostic et leur prise en charge. Elle traduit la prise en compte sérieuse par les autorités de ces symptômes dits « invisibles » et qui, pourtant, invalident le quotidien des personnes concernées. »...

«Gamma-aminobutyric acid (GABA) is a chemical messenger in the brain that blocks certain signals in the central nervous system and results in a soothing effect. GABA is believed to reduce stress, relieve anxiety, and improve sleep. Research into the effects of GABA is available. However, more research is needed to prove that supplements and food containing GABA can prevent or treat disease. Gamma-aminobutyric acid (GABA) is a chemical messenger in the brain (neurotransmitter). GABA blocks (inhibits) chemical signals in the brain and spinal cord (central nervous system) to decrease stimulation.»
[...]
« What is GABA? Gamma-aminobutyric acid (GABA) is a chemical messenger in the brain (neurotransmitter). GABA blocks (inhibits) chemical signals in the brain and spinal cord (central nervous system) to decrease stimulation. GABA is the most common neurotransmitter inhibitor in the central nervous system. When GABA blocks stimulation signals in the nervous system, what results is a soothing or calming effect. A balance in the levels of GABA is necessary for healthy brain function. Lower levels of GABA are caused when GABA signaling isn’t working properly. Lower levels of GABA are associated with: Anxiety Schizophrenia Autism spectrum disorder Depression Epilepsy and seizures GABA is produced naturally in the human body and in some foods. GABA also occurs in plants, animals, and microorganisms. There are prescription medications and supplements designed to increase GABA levels. Increasing GABA levels may help improve these conditions and others. Research is ongoing into the health benefits of GABA. Potential health benefits of GABA In 2019, a review of research on the medicinal properties of GABA was performed. "GABA has been investigated for its effects on reducing stress and enhancing sleep in human studies and for its other biological activities, which include anti-hypertension, anti-diabetes, anti-cancer, antioxidant, anti-inflammation, anti-microbial, and anti-allergy effects." Dai-Hung Ngo and Thanh Sang Vo The results of this review showed that increasing GABA levels had the following effects to varying degrees: Protection of the brain, kidneys, liver, and intestines against toxins. Improving or preventing neurological disorders, including improving depression, sleeplessness, cognitive impairment, and memory loss. May help treat or prevent high blood pressure, insomnia, and diabetes. »...

«Few, if any, psychologists would say that a preference for natural lighting, doodling in class, or even identifying as L.G.B.T.Q. is a sign of A.D.H.D. or autism.And yet, everywhere I look online, someone is trying to diagnose me with something, using "symptoms" unrelated to clinical diagnostic criteria. Videos with titles like "6 Signs You May Have A.D.H.D." and "Signs That You Might Have O.C.D." can rack up millions of views. In them, "neurodiversity advocates" encourage me to consider which of my personality quirks is instead a sign of mental illness or neurodiversity.In many online circles ...” particularly those frequented by young, white, middle-class women like me ...” certain diagnoses are treated like a zodiac sign or Myers-Briggs type. Once they were primarily serious medical conditions, perhaps ones of which to be ashamed. Now, absent social stigma, mental health status functions as yet another category in our ever-expanding identity politics, transforming what it means to have a psychological or neurological disorder for a generation of young people, though not entirely for the better.»
[...]
«The attraction of a flattened label is the way it provides meaning to common insecurities. Disorganization can be A.D.H.D.; social ineptitude can be autism. This approach provides quick relief from many of the anxieties central to teenage and young adult life. Am I weird? Is something wrong with me? Is this normal?­ When labeled, what makes you wince isn’t your fault, and it’s not something to be ashamed of. It’s what makes you unique. But flattening mental health labels into little more than personality test results risks the chance that our culture will take these conditions — and the people who claim to have them — less seriously. One visible consequence is a more common embrace of self-diagnosis over clinical evaluation. When mental health labels are framed primarily as tools for increasing self-knowledge, anyone is as qualified to diagnose mental illness as a therapist or doctor. The mental health influencers most frequently promoting this perspective post videos detailing often-questionable symptoms that appear to rack up particularly high view counts. Given the mental health crisis among American youth, some of the attraction of self-diagnosis is that it’s often difficult for young adults who seek a clinical evaluation to get one. In the United States, adult evaluations for conditions like autism and A.D.H.D. are often not covered by insurance. When they are covered, they can still be expensive — mine was over $500. Waiting times for testing in places like Canada and Britain can be years long. »...

«Autistic people as a group are heterogeneous, with a wide range of presentations, challenges and support needs. That heterogeneity is commonly weaponized against more able autistic people, often by autism researchers or parents who wish to highlight the needs of their autistic children who have higher support needs. This tactic, however, can backfire and increase harm to the most vulnerable autistic people because it separates this group from the insights gained from autistic scholarship. Focusing on aspects of autistic experience that we all share may be more fruitful and lead more quickly to our shared goal of improved outcomes for all autistic people.»
[...]
«As I write this, I have no access to fluent speech. I am autistic: an able, high-achieving, highly accomplished autistic woman. A medical professional who teaches peers about autism. Yet if you saw me in a difficult moment — such as at Gatwick Airport last night — or indeed during an INSAR [International Society for Autism Research] planning meeting today, you might not recognize me. An intensive day of interaction and teaching at the Royal College of Psychiatrists’ National Autism Training Programme for Psychiatrists yesterday, followed by a difficult journey home and a trainee support workshop this morning, which I didn’t feel able to cancel, has left me completely spent and, as we say in the autistic community, totally “out of spoons.” Luckily, our neurodivergent family functions perfectly well without the need for spoken words, and my autistic teenager can empathically say, “It’s OK, Mum. Don’t try to talk.” At other times, I’m the one saying the same to him. Darkness, a complete lack of interaction (even online), favored comfort items, intense stimming and time is what it will take for me to regulate to the point at which I can once again communicate using spoken words. I hope it happens overnight — because I have a meeting with my occupational therapist tomorrow, which I badly need in order to plan out my next few days. But this is not within my control. We need to recognize these challenges, which are common among autistic people. Unreliability of speech for usually fluent autistic people, and the speed at which we can go from articulate and competent to completely unable to access speech, is not generally appreciated. Would I prefer that this aspect of my life was not shared publicly? Yes, of course. I spend quite a lot of time and effort ensuring that I am not seen in such a state except by those who know and love me unconditionally. But if we are to address the needs of the entire autistic community, we should consider those aspects of autistic experience that we all, or most of us, share. »...

«Depuis sa création, la réalité virtuelle a permis à des milliers de personnes de vivre une pléthore d'expériences immersives. Elle permet désormais de mieux comprendre la réalité d'une personne autiste, et ce, grâce à la créativité d'une équipe de chercheurs du Centre de recherche de l'Institut universitaire en santé mentale de Montréal.L'application bilingue et gratuite vise à illustrer les défis auxquels sont confrontées les personnes autistes dans la vie de tous les jours. Trois ans de travail ont été nécessaires pour en arriver à l'expérience immersive de neuf minutes.»
[...]
«Le programme, qui est destiné aux appareils Meta Oculus Quest 2, simule une visite dans un cabinet de dentiste, une situation qui peut s’avérer angoissante pour une personne se trouvant dans le trouble du spectre de l’autisme. «Nous savons tous que la meilleure façon de mieux comprendre la réalité de quelqu’un est de se mettre dans sa peau, explique M. Lanovaz. Nous avons donc simulé les difficultés qu’une personne autiste peut éprouver sur les plans sensoriel et social quand elle fait face à une situation stressante.» «Aller chez le dentiste peut être une source de stress pour n’importe qui, pas seulement les personnes autistes, poursuit le chercheur. Mais pour celles-ci, ça peut représenter des défis supplémentaires qu’on a voulu montrer en exagérant certains éléments dans la simulation.» D’ailleurs, prévient M. Lanovaz, l’application de réalité virtuelle ne représente l’expérience que d’une seule personne autiste et ne doit pas être généralisée. «Chaque personne autiste est unique, donc notre programme ne représente qu’une seule expérience parmi d’innombrables scénarios possibles», note le spécialiste. Pour sensibiliser L’application, conçue grâce au soutien financier de la Fondation de l’Institut universitaire en santé mentale de Montréal et du Réseau national d’expertise en trouble du spectre de l’autisme, pourra être utilisée par les écoles, les établissements de santé et les milieux de travail pour susciter une prise de conscience auprès des personnes qui côtoient des individus TSA. «Notre objectif ce sont les grandes organisations, notamment parce qu’ils ont déjà les appareils ou que c’est plus facile pour eux de s’en procurer, indique M. Lanovaz. Notre équipe est prête à se rendre disponible pour venir offrir des ateliers de sensibilisation auprès de ces personnes qui vont être amenées à côtoyer des personnes autistes.» La démarche semble déjà porter ses fruits. Une première étude auprès de 104 membres d’une communauté cégépienne ayant utilisé l’application conclut que ses utilisateurs sont davantage sensibilisés à la réalité des personnes autistes, notamment en améliorant «significativement les attitudes, l’ouverture et les connaissances à l’égard de l’autisme». «Dans les faits, on avait un groupe de personnes qui avait fait l’expérience de réalité virtuelle et un qui ne l’avait pas fait. On leur a soumis un questionnaire et ce qui est intéressant, c’est que les personnes qui avaient fait la simulation s’étaient montrées plus ouvertes, affichaient davantage de connaissances et avaient des attitudes plus positives à l’égard des personnes avec des caractéristiques d’autisme», indique M. Lanovaz. »...

«Alors que les données sur l'association entre les troubles du spectre autistique (TSA) et les troubles cardiométaboliques, cette équipe de l'Université Texas Tech a entrepris une méta-analyse sur le sujet. Les conclusions, publiées dans le JAMA Pediatrics, confirment avec les TSA un risque accru d'obésité et de troubles cardiométaboliques tels que le diabète et la dyslipidémie. Les dernières estimations suggèrent qu'1 enfant sur 44 âgé de 3 à 17 ans est diagnostiqué avec une forme de TSA (CDC 2009-2017). Rares sont les études ayant porté sur l'association entre les TSA et les troubles métaboliques. Une étude de l'hôpital de Philadelphie a cependant révélé un risque accru de 50% d'être en surpoids ou obèse plus tard dans la vie, chez les enfants atteints d'autisme et à retard de développement. Pour préciser le lien possible entre les TSA et les maladies cardiométaboliques, l'équipe du Texas a mené une revue systématique et une méta-analyse des données de la littérature.»
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« L'autisme est-il à l'origine de ces troubles métaboliques ? Les chercheurs précisent que leur analyse n’en apporte pas la démonstration, mais que le risque cardiométabolique plus élevé chez les enfants autistes appelle une détection régulière et une vigilance de la part des médecins de soins primaires. Par ailleurs, ces données ont des implications pour la prescription de certains médicaments, pouvant entraîner des effets indésirables métaboliques chez les enfants autistes. « Les parents d'enfants autistes devraient également être conscients du risque plus élevé d’obésité et de complications métaboliques. Ces parents devraient discuter de ce risque et des interventions de prévention possibles pour l’enfant, avec le médecin traitant ». »...

«L'autisme est un trouble neuro-développemental encore bien mystérieux. Pour mieux le prendre en charge, il nous faut mieux le comprendre. Des auteurs se sont penchés sur les connexions cérébrales qui se font ou pas dans le cerveau des autistes. Il existerait en fait quatre formes différentes d'autisme.L'autisme est un trouble neuro-développemental très hétérogène. Il n'y a pas un, mais plusieurs autismes. C'est pourquoi on parle de troubles du spectre autistique ou TSA. Les mécanismes sous-jacents à cette hétérogénéité des symptômes de l'autisme ne sont pas très bien compris par les chercheurs. En se basant sur un très grand nombre de données de neuro-imagerie, une équipe a essayé de déterminer des sous-groupes d'autisme en fonction de la connectivité fonctionnelle du réseau cérébral. Leurs travaux ont été publiés dans Nature neuroscience.»
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« Quelles étaient les caractéristiques de chaque groupe ? Un groupe avait des capacités verbales bien développées et peu de comportements répétitifs, mais un déficit de communication sociale. Un autre avait des capacités verbales bien développées et une bonne communication sociale, mais beaucoup de comportements répétitifs. Il a été observé que dans le premier groupe les connexions du cerveau en charge des informations visuelles étaient hyperactives tandis qu’elles étaient faibles dans le second groupe. Concernant les deux autres sous-groupes, les patients atteints avaient d’importantes déficiences sociales et de nombreux comportements répétitifs et soit de bonnes capacités verbales, soit de très mauvaises capacités verbales. Ici aussi, les connexions neuronales étaient caractéristiques de chaque groupe. ref : Molecular and network-level mechanisms explaining individual differences in autism spectrum disorder »...
Source: http://www.futura-sciences.com | Source Status

«L'autisme est une condition neurodéveloppementale dont l'ensemble des mécanismes ne sont pas encore bien identifiés. Toutefois, les travaux du Weill Cornell Medicine (New York), présentés dans la revue scientifique Nature Neuroscience le 9 avril 2023, offrent une avancée intéressante. Les chercheurs sont parvenus à identifier quatre sous-types distincts du trouble. Avec l’aide d’une intelligence artificielle disposant d'outils d’apprentissage automatique, les scientifiques ont analysé les données de neuro-imagerie de 299 personnes autistes et de 907 individus neurotypiques. Ils ont trouvé des schémas de connexions cérébrales liés à des traits comportementaux chez les autistes comme la capacité verbale, l'affect social et les comportements répétitifs ou stéréotypés.»
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« TSA : 4 sous-groupes distincts mis en lumière Avec l’aide d’une intelligence artificielle disposant d'outils d’apprentissage automatique, les scientifiques ont analysé les données de neuro-imagerie de 299 personnes autistes et de 907 individus neurotypiques. Ils ont trouvé des schémas de connexions cérébrales liés à des traits comportementaux chez les autistes comme la capacité verbale, l'affect social et les comportements répétitifs ou stéréotypés. Ils sont ainsi parvenus à distinguer quatre sous-groupes d'autisme. Chacun présente des différences d'expression régionale des gènes ou encore des interactions protéine-protéine pouvant expliquer les différences cérébrales et comportementales observées. "Deux des groupes avaient une intelligence verbale supérieure à la moyenne. L’un présentait également de graves déficits de communication sociale, mais des comportements moins répétitifs, tandis que l'autre avait des comportements plus répétitifs et moins de déficience sociale. Les connexions entre les parties du cerveau qui traitent les informations visuelles et aident le cerveau à identifier les informations entrantes les plus saillantes, étaient hyperactives dans le sous-groupe avec plus de déficience sociale. Ces mêmes connexions étaient faibles dans le groupe avec des comportements plus répétitifs", expliquent les auteurs dans le communiqué de Weill Cornell Medicine. "Il était intéressant au niveau des circuits cérébraux qu'il y ait des réseaux cérébraux similaires impliqués dans ces deux sous-types, mais les connexions dans ces mêmes réseaux étaient atypiques dans des directions opposées", a ajouté la Dr Amanda Buch qui a travaillé sur l’étude. Les deux autres sous-groupes présentaient d’importantes déficiences sociales et des comportements répétitifs, mais avaient des capacités verbales aux extrémités opposées du spectre. Ainsi, malgré certaines similitudes comportementales, les chercheurs ont découvert des schémas de connexion cérébrale complètement différents. L'équipe a analysé l'expression des gènes qui expliquait les connexions cérébrales atypiques présentes dans chaque sous-groupe afin de mieux comprendre ce qui causait les différences. Elle a mis en lumière de nombreux gènes déjà liés à l'autisme dans d’autres travaux. »...

«Autism can be classified into different subtypes based on behavior and brain activity, with scientists now identifying four of them, according to a recent study.The findings of this study were published in the peer-reviewed academic journal Nature Neuroscience.Conducted by researchers from Cornell University's medical school Weill Cornell Medicine, the study utilized machine learning and neuroimaging data to study brain activity linked with behavioral traits in autistic people and neurotypical people.»
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«Autism is often misconstrued by some as being a mental disorder, but this isn't actually the case. Rather, it is a neurological condition. That means that it tends to result in physical and observable differences in the brain. In addition, despite what some say about different potential causes of autism, such as vaccines or genetic factors, the fact is that there is no clear understanding of what causes autism and the vaccine claim has been thoroughly debunked. This misunderstanding is further fueled by another misunderstanding, that there is an autism epidemic due to rising diagnoses. This isn't true though – there is now just a better understanding of autism to better diagnose it. There is also a tendency to say that autism is something that needs to be cured. This is also a very controversial topic and is taken as offensive by many experts and autistic people. Rather, autism has become more and more understood as a disability and part of neurodiversity. Rather than seeking cures, what is now suggested is accommodation, in line with the social model of disability. However, it is important to note that not everyone who has autism is the same. Autism is a spectrum, and it can manifest in a varied number of ways and symptoms with different levels of needed support and functionality. Some high-functioning autistic people are able to more or less live perfectly normal lives while those who are lower functioning need significantly more support. In other words, the level of support and accommodation autistic people need can vary. However, on the outside, it may be difficult to ascertain who needs what kind of support and how to classify it all. »...

«I was first diagnosed with autism when I was seven years old.My parents took me to a child psychiatrist for a multitude of reasons, really. I wasn't socializing with other kids. I would sit in the corner for hours on end, reading or staring into empty space or doing nothing at all. I seemed quiet and withdrawn and totally disconnected from what was going on around me. I had strange physical symptoms like scratching at my arms and legs, and complaining of itching under my skin. I was sick all the time and felt nauseous or sick to my stomach most days.Those were just the symptoms other people could see. Inside was even worse. I was afraid of other people. I hated being touched. Men terrified me particularly. I was being bullied at school. The model of femininity I was learning from my mother and from my religion was to always be nice, sweet, passive, and have no assertiveness skills whatsoever, so I was everybody's easiest scapegoat. It's no surprise I was sick all the time.»
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«I wonder sometimes who autistic people would be if so many of us had not been abused. Most of us have survived childhood bullying. Most women were survivors of child sexual abuse, and many men were too. Statistically, many of us identify as transgender or nonbinary, which means we have also faced homophobia. Statistically, many of us have physical disabilities, which means we also face those barriers. Our lives are full of traumas. Many of the traits commonly associated with autism are in fact traits autistic people exhibit under extreme stress or trauma. Autistic meltdowns, or the inverse, shutdowns, are responses to extreme sensory overload. Stimming, attempting to calm ourselves down through repetitive motion, can be anything from singing at inappropriate times to rocking back and forth, and this, too, is a stress response. So telling, isn’t it, that the cultural imagination of an autistic person, is an autistic person in trauma. »...

«Abstract Aims Multiple studies have connected parenting styles to children's internalising and externalising mental health symptoms (MHS). However, it is not clear how different parenting styles are jointly influencing the development of children's MHS over the course of childhood. Hence, the differential effects of parenting style on population heterogeneity in the joint developmental trajectories of children's internalising and externalising MHS were examined In short, the findings suggest that a non-negligible proportion of the child population is susceptible to being at high risk for developing MHS. Moreover, a smaller proportion of children was improving but still displayed high symptoms of MHS (mild-risk). Furthermore, hostile parenting style is a substantial risk factor for increments in child MHS, whereas consistent parenting can serve as a protective factor in cases of mild-risk. Evidence-based parent training/management programmes may be needed to reduce the risk of developing MHS.»
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« Conclusions In short, the findings suggest that a non-negligible proportion of the child population is susceptible to being at high risk for developing MHS. Moreover, a smaller proportion of children was improving but still displayed high symptoms of MHS (mild-risk). Furthermore, hostile parenting style is a substantial risk factor for increments in child MHS, whereas consistent parenting can serve as a protective factor in cases of mild-risk. Evidence-based parent training/management programmes may be needed to reduce the risk of developing MHS. »...

«Abstract Maternal immune dysregulation is a prenatal risk factor for autism spectrum disorder (ASD). Importantly, a clinically relevant connection exists between inflammation and metabolic stress that can result in aberrant cytokine signaling and autoimmunity. In this study we examined the potential for maternal autoantibodies (aAbs) to disrupt metabolic signaling and induce neuroanatomical changes in the brains of exposed offspring. To accomplish this, we developed a model of maternal aAb exposure in rats based on the clinical phenomenon of maternal autoantibody-related ASD (MAR-ASD). Following confirmation of aAb production in rat dams and antigen-specific immunoglobulin G (IgG) transfer to offspring, we assessed offspring behavior and brain structure longitudinally. MAR-ASD rat offspring displayed a reduction in pup ultrasonic vocalizations and a pronounced deficit in social play behavior when allowed to freely interact with a novel partner. Additionally, longitudinal in vivo structural magnetic resonance imaging (sMRI) at postnatal day 30 (PND30) and PND70, conducted in a separate cohort of animals, revealed sex-specific differences in total and regional brain volume. Treatment-specific effects by region appeared to converge on midbrain and cerebellar structures in MAR-ASD offspring. Simultaneously, in vivo 1H magnetic resonance spectroscopy (1H-MRS) data were collected to examine brain metabolite levels in the medial prefrontal cortex. Results showed that MAR-ASD offspring displayed decreased levels of choline-containing compounds and glutathione, accompanied by increased taurine compared to control animals. Overall, we found that rats exposed to MAR-ASD aAbs present with alterations in behavior, brain structure, and neurometabolites; reminiscent of findings observed in clinical ASD.»...

«Autism spectrum disorder (ASD) is an increasingly diagnosed neurodevelopmental disorder with hypothesized causes including a range of genetic and environmental risk factors [1, 2]. Symptoms of ASD include altered communication, reduced interest in social interaction, and repetitive/stereotyped behaviors [2]. Numerous studies have identified maternal immune responses during pregnancy to be a risk factor for a child's ASD diagnosis [3]. Among this body of literature is the finding that about 20% of mothers whose children are subsequently diagnosed with ASD have circulating autoantibodies (aAbs) against proteins critical for early development [4]. While there is growing interest in the role of maternal aAbs in ASD pathogenesis, the mechanistic link between maternal aAb exposure and altered offspring neurodevelopment remains unclear. A study from Bruce et al. in this issue sought to better characterize the long-term neurological impact of maternal aAb exposure on offspring brain maturation, neurometabolism, and behavior [5].»...

«Autism spectrum disorder (ASD) is caused by combined genetic and environmental factors. Genetic heritability in ASD is estimated as 60-90%, and genetic investigations have revealed many monogenic factors. We analyzed 405 patients with ASD using family-based exome sequencing to detect disease-causing single-nucleotide variants (SNVs), small insertions and deletions (indels), and copy number variations (CNVs) for molecular diagnoses. All candidate variants were validated by Sanger sequencing or quantitative polymerase chain reaction and were evaluated using the American College of Medical Genetics and Genomics/Association for Molecular Pathology guidelines for molecular diagnosis. We identified 55 disease-causing SNVs/indels in 53 affected individuals and 13 disease-causing CNVs in 13 affected individuals, achieving a molecular diagnosis in 66 of 405 affected individuals (16.3%). Among the 55 disease-causing SNVs/indels, 51 occurred de novo, 2 were compound heterozygous (in one patient), and 2 were X-linked hemizygous variants inherited from unaffected mothers. The molecular diagnosis rate in females was significantly higher than that in males. We analyzed affected sibling cases of 24 quads and 2 quintets, but only one pair of siblings shared an identical pathogenic variant. Notably, there was a higher molecular diagnostic rate in simplex cases than in multiplex families. Our simulation indicated that the diagnostic yield is increasing by 0.63% (range 0-2.5%) per year. Based on our simple simulation, diagnostic yield is improving over time. Thus, periodical reevaluation of ES data should be strongly encouraged in undiagnosed ASD patients.»...

«AbstractProblem/Condition: Autism spectrum disorder (ASD).Period Covered: 2020.Description of System: The Autism and Developmental Disabilities Monitoring (ADDM) Network is an active surveillance program that provides estimates of the prevalence of ASD among children aged 8 years. In 2020, there were 11 ADDM Network sites across the United States (Arizona, Arkansas, California, Georgia, Maryland, Minnesota, Missouri, New Jersey, Tennessee, Utah, and Wisconsin). To ascertain ASD among children aged 8 years, ADDM Network staff review and abstract developmental evaluations and records from community medical and educational service providers. A child met the case definition if their record documented 1) an ASD diagnostic statement in an evaluation, 2) a classification of ASD in special education, or 3) an ASD International Classification of Diseases (ICD) code.»
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«Results: For 2020, across all 11 ADDM sites, ASD prevalence per 1,000 children aged 8 years ranged from 23.1 in Maryland to 44.9 in California. The overall ASD prevalence was 27.6 per 1,000 (one in 36) children aged 8 years and was 3.8 times as prevalent among boys as among girls (43.0 versus 11.4). Overall, ASD prevalence was lower among non-Hispanic White children (24.3) and children of two or more races (22.9) than among non-Hispanic Black or African American (Black), Hispanic, and non-Hispanic Asian or Pacific Islander (A/PI) children (29.3, 31.6, and 33.4 respectively). ASD prevalence among non-Hispanic American Indian or Alaska Native (AI/AN) children (26.5) was similar to that of other racial and ethnic groups. ASD prevalence was associated with lower household income at three sites, with no association at the other sites. Across sites, the ASD prevalence per 1,000 children aged 8 years based exclusively on documented ASD diagnostic statements was 20.6 (range = 17.1 in Wisconsin to 35.4 in California). Of the 6,245 children who met the ASD case definition, 74.7% had a documented diagnostic statement of ASD, 65.2% had a documented ASD special education classification, 71.6% had a documented ASD ICD code, and 37.4% had all three types of ASD indicators. The median age of earliest known ASD diagnosis was 49 months and ranged from 36 months in California to 59 months in Minnesota. Among the 4,165 (66.7%) children with ASD with information on cognitive ability, 37.9% were classified as having an intellectual disability. Intellectual disability was present among 50.8% of Black, 41.5% of A/PI, 37.8% of two or more races, 34.9% of Hispanic, 34.8% of AI/AN, and 31.8% of White children with ASD. Overall, children with intellectual disability had earlier median ages of ASD diagnosis (43 months) than those without intellectual disability (53 months). Interpretation: For 2020, one in 36 children aged 8 years (approximately 4% of boys and 1% of girls) was estimated to have ASD. These estimates are higher than previous ADDM Network estimates during 2000–2018. For the first time among children aged 8 years, the prevalence of ASD was lower among White children than among other racial and ethnic groups, reversing the direction of racial and ethnic differences in ASD prevalence observed in the past. Black children with ASD were still more likely than White children with ASD to have a co-occurring intellectual disability. Public Health Action: The continued increase among children identified with ASD, particularly among non-White children and girls, highlights the need for enhanced infrastructure to provide equitable diagnostic, treatment, and support services for all children with ASD. Similar to previous reporting periods, findings varied considerably across network sites, indicating the need for additional research to understand the nature of such differences and potentially apply successful identification strategies across states. »...

«La pédopsychiatrie pourrait être « mieux financée », selon ce rapport de la Cour des comptes à la Commission des affaires sociales le 21 mars qui formule 9 recommandations. Dans un contexte de l'augmentation des besoins, l'analyse pointe une offre « mal adaptée » et des parcours « peu lisibles et en tension ». Si le ministère de la Santé affiche une « volonté claire » pour améliorer l'organisation de l'offre de soins, la gouvernance reste « peu opérationnelle ».»
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«Les neuf recommandations 1. Dresser un état des lieux exhaustif de la situation épidémiologique des troubles psychiques chez les enfants et les adolescents en France, notamment en élargissant l’étude nationale lancée en 2022 aux adolescents et en exploitant davantage les bases de données médico-administratives. Cet état des lieux devrait faire l’objet d’une actualisation au moins tous les dix ans (ministère de la santé et de la prévention, Cnam, SPF). 2. Renforcer la formation initiale et continue des praticiens ayant vocation à remplir les missions de médecin traitant de l’enfant (médecins généralistes et pédiatres) en psychologie et psychiatrie infanto-juvénile, en particulier sur le plan du dépistage et de l’orientation (ministère de la santé et de la prévention, ministre de l’enseignement supérieur, de la recherche et de l’innovation). 3. Prendre appui sur les premiers constats des expérimentations des maisons de l’enfance et des familles pour les élargir aux adolescents, en lien avec les actuelles maisons des adolescents. Dans l’intervalle, continuer à renforcer, dans les territoires sous-dotés, les moyens des CMP-IJ pour leur mission d’accueil et d’évaluation, dans le prolongement des mesures adoptées fin 2022 (ministère de la santé et de la prévention, Cnam). 4. Actualiser la norme de taux d’équipement indicatif standard par territoire pertinent (couvrant l’offre publique et privée), qui devrait notamment inclure une équipe de liaison en pédiatrie ou lits de crise (lits-portes), des équipes mobiles et des lits d’hospitalisation 16 à 25 ans et ouvrir des capacités d’accueil en établissement médico-social en aval de l’hôpital (ministère de la santé et de la prévention). 5. Adopter des « Objectifs nationaux de santé mentale infanto-juvénile » associés à un calendrier précis et des indicateurs permettant une évaluation de la politique d’organisation des soins de pédopsychiatrie (ministère de la santé et de la prévention). 6. Positionner l’actuel délégué ministériel à la santé mentale et à la psychiatrie au niveau interministériel et le dénommer ainsi : « Délégué interministériel à la santé mentale, à la psychiatrie et à la pédopsychiatrie » afin d’identifier la pédopsychiatrie explicitement dans le champ de l’actuelle délégation santé mentale et de renforcer son positionnement interministériel (Première ministre, ministère de la santé et de la prévention). 7. Intégrer au projet territorial de santé mentale (PTSM) un volet pour la psychiatrie infanto-juvénile et prévoir dans les contrats territoriaux de santé mentale (CTSM) des objectifs chiffrés, un calendrier de mise en œuvre des actions prévues et des indicateurs d’évaluation périodique (ministère de la santé et de la prévention). 8. Mettre en œuvre une politique d’attractivité renforcée de la pédopsychiatrie en valorisant davantage les parcours hospitalo-universitaires et en soutenant la recherche française dans la discipline. À cet effet, il importera de doubler le nombre d’étudiants formés à la pédopsychiatrie et d’augmenter les recrutements de MCU-PH (ministère de la santé et de la prévention, ministre de l’enseignement supérieur, de la recherche et de l’innovation, Cnam). 9. Renforcer l’intervention des psychologues et des IPA dans le parcours de soins pédopsychiatriques en complément des autres professionnels (ministère de la santé et de la prévention) »...

«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.»...