GSE230714 MECP2 directly interacts with RNA polymerase II to modulate transcription in human neurons [RNA-Seq]
We describe here the first integrated CUT&Tag, transcriptome, and proteome analyses using human neurons with wild-type and mutant MECP2 molecules. MECP2 occupies CpG-rich promoter-proximal regions in over four thousand genes in human neurons, including a plethora of autism risk genes, together with RNA polymerase II (Pol II). MECP2 directly interacts with Pol II, and genes occupied by both proteins showed reduced expression in neurons with MECP2 patient mutations. We conclude that MECP2 acts as a positive cofactor for Pol II gene expression at many neuronal genes that harbor CpG-islands in promoter-proximal regions, and th...
Source: GEO: Gene Expression Omnibus - April 26, 2024 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Homo sapiens Source Type: research
Collective effort to enhance the quality of research evidence in intellectual and developmental disabilities: a case study of an academic-practice network
Corinna Grindle, Louise D. Denne, Emily J. Roberts-Tyler, Suzi Jayne Sapiets, Magda M. Apanasionok, J. Carl Hughes, Richard P. Hastings, Nick Gore, Peter Baker, Claire McDowell Tizard Learning Disability Review, Vol. ahead-of-print, No. ahead-of-print, pp.- With a historic lack of attention to synthesis methods such as systematic review and meta-analysis and a lack of randomised controlled trials, the evidence base for behavioural interventions for children and adults who are autistic or are diagnosed with developmental disabilities is patchy. The Sharland Foundation Developmental Disabilities Applied Behavioural Research...
Source: Tizard Learning Disability Review - April 26, 2024 Category: Disability Authors: Corinna Grindle Louise D. Denne Emily J. Roberts-Tyler Suzi Jayne Sapiets Magda M. Apanasionok J. Carl Hughes Richard P. Hastings Nick Gore Peter Baker Claire McDowell Source Type: research
IJERPH, Vol. 21, Pages 545: The Relationship between Anxiety Symptoms and Perceived Quality of Life among Caregivers of Children with Autism Spectrum Disorder in the Amazon
Gomes
The relationship between anxiety symptoms and perceived quality of life among caregivers of children with autism was verified. To assess perceived quality of life, the Short Form Healthy Survey Item was used; perception of anxiety symptoms was assessed using the Beck Anxiety Inventory. Eighty caregivers of children with autism participated, with 68.7% of caregivers being mothers. Of the total number of caregivers, 68.8% had a severe level of anxiety. Regarding perceived quality of life, they demonstrated greater impairment in limitation due to physical aspects, limitation due to emotional aspects, vitality, and p...
Source: International Journal of Environmental Research and Public Health - April 26, 2024 Category: Environmental Health Authors: Rayanne Vieira da Silva Manuela Maria de Lima Carvalhal Daniela Lopes Gomes Tags: Article Source Type: research
Correction to: Developmental, Behavioural and NDBI Interventions in Autistic Children or at Elevated Likelihood of Autism: A Systematic Review of Neural Outcomes
(Source: Review Journal of Autism and Developmental Disorders)
Source: Review Journal of Autism and Developmental Disorders - April 26, 2024 Category: Child Development Source Type: research
Diagnostic yield of the chromosomal microarray analysis in turkish patients with unexplained development delay/ ıntellectual disability(ID), autism spectrum disorders and/or multiple congenital anomalies and new clinical findings
CONCLUSIONS: In this study, chromosomal microarray analysis revealed pathogenic de novo copy number variants with new clinical features. Chromosomal microarray analysis in the Turkish population has been reported in the largest patient cohort to date.PMID:38664339 | DOI:10.1007/s11033-024-09545-y (Source: Molecular Biology Reports)
Source: Molecular Biology Reports - April 25, 2024 Category: Molecular Biology Authors: Nejmiye Akkus Pelin Ozyavuz Cubuk Source Type: research
Preparing to "Live a Life of Possibilities": Experiences of Healthcare Providers Readying Autistic Adolescents and Their Families for Independent Driving
This study describes providers' experiences supporting autistic adolescents and families in the decision to pursue licensure and identifies barriers experienced in providing support. We conducted interviews with 15 healthcare providers focused on how they support autistic adolescents and their families in navigating topics related to independence, driving, and transportation. Key themes identified included: importance of understanding adolescents' perspectives and motivations, approaches to readying caregivers for children to pursue driving, and role of providers in fostering agreement between adolescents and caregivers. R...
Source: Journal of Autism and Developmental Disorders - April 25, 2024 Category: Psychiatry Authors: Rachel K Myers Christina Labows Catherine C McDonald Benjamin E Yerys Emma B Sartin Meghan E Carey Cynthia J Mollen Allison E Curry Source Type: research
Gender and Autism Program: A novel clinical service model for gender-diverse/transgender autistic youth and young adults
Conclusions: Since its founding, the GAP has proven a sustainable neuropsychology-based service with consistent referral flow and insurance authorizations. Capturing staff perspectives through rigorous Delphi methods, and addressing the GAP's feasibility and replicability, this study provides a road map for replicating this service. We also highlight GAP training of specialist clinicians, fundamental to addressing the desperate shortage of providers in this field.PMID:38664066 | DOI:10.1080/13854046.2024.2318155 (Source: The Clinical Neuropsychologist)
Source: The Clinical Neuropsychologist - April 25, 2024 Category: Psychiatry & Psychology Authors: John F Strang Abigail L Fischbach Sharanya Rao Ann Clawson Megan Knauss Sarah N Bernstein Anna I R van der Miesen Anne P Inge Kenia Alonzo Julia Zeroth Lauren Kenworthy Colleen I Morgan Abigail Brandt Christina C Moore Kaitlyn Ahlers Mary K Jankowski Lucy Source Type: research
Diagnostic yield of the chromosomal microarray analysis in turkish patients with unexplained development delay/ ıntellectual disability(ID), autism spectrum disorders and/or multiple congenital anomalies and new clinical findings
CONCLUSIONS: In this study, chromosomal microarray analysis revealed pathogenic de novo copy number variants with new clinical features. Chromosomal microarray analysis in the Turkish population has been reported in the largest patient cohort to date.PMID:38664339 | DOI:10.1007/s11033-024-09545-y (Source: Molecular Biology Reports)
Source: Molecular Biology Reports - April 25, 2024 Category: Molecular Biology Authors: Nejmiye Akkus Pelin Ozyavuz Cubuk Source Type: research
Preparing to "Live a Life of Possibilities": Experiences of Healthcare Providers Readying Autistic Adolescents and Their Families for Independent Driving
This study describes providers' experiences supporting autistic adolescents and families in the decision to pursue licensure and identifies barriers experienced in providing support. We conducted interviews with 15 healthcare providers focused on how they support autistic adolescents and their families in navigating topics related to independence, driving, and transportation. Key themes identified included: importance of understanding adolescents' perspectives and motivations, approaches to readying caregivers for children to pursue driving, and role of providers in fostering agreement between adolescents and caregivers. R...
Source: Journal of Autism and Developmental Disorders - April 25, 2024 Category: Psychiatry Authors: Rachel K Myers Christina Labows Catherine C McDonald Benjamin E Yerys Emma B Sartin Meghan E Carey Cynthia J Mollen Allison E Curry Source Type: research
Gender and Autism Program: A novel clinical service model for gender-diverse/transgender autistic youth and young adults
Conclusions: Since its founding, the GAP has proven a sustainable neuropsychology-based service with consistent referral flow and insurance authorizations. Capturing staff perspectives through rigorous Delphi methods, and addressing the GAP's feasibility and replicability, this study provides a road map for replicating this service. We also highlight GAP training of specialist clinicians, fundamental to addressing the desperate shortage of providers in this field.PMID:38664066 | DOI:10.1080/13854046.2024.2318155 (Source: The Clinical Neuropsychologist)
Source: The Clinical Neuropsychologist - April 25, 2024 Category: Psychiatry & Psychology Authors: John F Strang Abigail L Fischbach Sharanya Rao Ann Clawson Megan Knauss Sarah N Bernstein Anna I R van der Miesen Anne P Inge Kenia Alonzo Julia Zeroth Lauren Kenworthy Colleen I Morgan Abigail Brandt Christina C Moore Kaitlyn Ahlers Mary K Jankowski Lucy Source Type: research
Gender and Autism Program: A novel clinical service model for gender-diverse/transgender autistic youth and young adults
Conclusions: Since its founding, the GAP has proven a sustainable neuropsychology-based service with consistent referral flow and insurance authorizations. Capturing staff perspectives through rigorous Delphi methods, and addressing the GAP's feasibility and replicability, this study provides a road map for replicating this service. We also highlight GAP training of specialist clinicians, fundamental to addressing the desperate shortage of providers in this field.PMID:38664066 | DOI:10.1080/13854046.2024.2318155 (Source: The Clinical Neuropsychologist)
Source: The Clinical Neuropsychologist - April 25, 2024 Category: Psychiatry & Psychology Authors: John F Strang Abigail L Fischbach Sharanya Rao Ann Clawson Megan Knauss Sarah N Bernstein Anna I R van der Miesen Anne P Inge Kenia Alonzo Julia Zeroth Lauren Kenworthy Colleen I Morgan Abigail Brandt Christina C Moore Kaitlyn Ahlers Mary K Jankowski Lucy Source Type: research
Gender and Autism Program: A novel clinical service model for gender-diverse/transgender autistic youth and young adults
Conclusions: Since its founding, the GAP has proven a sustainable neuropsychology-based service with consistent referral flow and insurance authorizations. Capturing staff perspectives through rigorous Delphi methods, and addressing the GAP's feasibility and replicability, this study provides a road map for replicating this service. We also highlight GAP training of specialist clinicians, fundamental to addressing the desperate shortage of providers in this field.PMID:38664066 | DOI:10.1080/13854046.2024.2318155 (Source: The Clinical Neuropsychologist)
Source: The Clinical Neuropsychologist - April 25, 2024 Category: Psychiatry & Psychology Authors: John F Strang Abigail L Fischbach Sharanya Rao Ann Clawson Megan Knauss Sarah N Bernstein Anna I R van der Miesen Anne P Inge Kenia Alonzo Julia Zeroth Lauren Kenworthy Colleen I Morgan Abigail Brandt Christina C Moore Kaitlyn Ahlers Mary K Jankowski Lucy Source Type: research
Correction to: to the Roots of Theory of Mind Deficits in Autism Spectrum Disorder: A Narrative Review
(Source: Review Journal of Autism and Developmental Disorders)
Source: Review Journal of Autism and Developmental Disorders - April 25, 2024 Category: Child Development Source Type: research
Patient Information: Autism Spectrum Disorder
This JAMA Patient Page describes autism spectrum disorder (ASD) and its signs and symptoms, diagnosis, and therapy options. (Source: JAMA - Journal of the American Medical Association)
Source: JAMA - Journal of the American Medical Association - April 25, 2024 Category: General Medicine Source Type: research
The ‘PSILAUT’ protocol: an experimental medicine study of autistic differences in the function of brain serotonin targets of psilocybin
The underlying neurobiology of the complex autism phenotype remains obscure, although accumulating evidence implicates the serotonin system and especially the 5HT2A receptor. However, previous research has largel... (Source: BMC Psychiatry)
Source: BMC Psychiatry - April 25, 2024 Category: Psychiatry Authors: Tobias P. Whelan, Eileen Daly, Nicolaas A. Puts, Paula Smith, Carrie Allison, Simon Baron-Cohen, Ekaterina Malievskaia, Declan G. M. Murphy and Grainne M. McAlonan Tags: Study Protocol Source Type: research
