Results 71 to 80 of about 182,432 (262)

The hallmarks of autism

Frontiers in Psychiatry, 2022
I suggest that the current study of autism is problematic, due to: (1) its failure to pursue a medical model of disease causation, with protocols for differential diagnoses of causes; (2) a notable incidence of unrecognized false positive diagnoses in children; (3) the conceptual equating of autism with sets of traits that have been shown to be ...
openaire   +3 more sources

A pilot evaluation of the Baby Social ABCs caregiver-mediated intervention for 6–15-month-olds with early signs of autism—feasibility, acceptability, and preliminary evidence

Frontiers in Child and Adolescent Psychiatry
BackgroundAutism spectrum disorder (autism) is a neurodevelopmental condition with a high prevalence of approximately 1 in 50 children. Early intervention can support long-term outcomes.
E. Dowds, S. MacWilliam, A. Solish, S. Osten, L. Zwaigenbaum, I. M. Smith, J. A. Brian   +6 more
doaj   +1 more source

Remote Language Assessment in School‐Age Children With Phelan–McDermid Syndrome and Genotype–Phenotype Correlation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT People with Phelan–McDermid syndrome (PMS) have reduced speech and language abilities, yet little research has profiled the communication abilities in this population. The purpose of this study was threefold: identifying the language and communication profiles of school‐aged children with PMS, identifying genetic contributions to language and ...
Sarah Quadri‐Valverde, Jessica Klusek, Linda D. Ward, Diana Ivankovic, Nancy Powers, Vijay Shankar, Rachel A. Lyman, Trudy F. C. Mackay, William Bridges, Katy Phelan, Curtis Rogers, Luigi Boccuto, Sara M. Sarasua   +12 more
wiley   +1 more source

35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li, Deziree L. Coleman, Kelsey Hogan, Danielle Luz, Lindsay Bhandari, Newell Belnap, Tiffany Busa, Charles Coutton, Klaus Dieterich, Svetlana Gorokhova, Clara Hildebrandt, Rachel Logan, Milena Mariani, Manuela Morleo, Vincenzo Nigro, John Pappas, Rachel Rabin, Kelly Schoch, Angelo Selicorni, Vandana Shashi, Rebecca Spillmann, Jennifer Sullivan, Charlotte Tardy, Samantha A. Schrier Vergano, Brock Grill, Kristin Baranano   +25 more
wiley   +1 more source

Community implementation of a brief parent mediated intervention for toddlers with probable or confirmed autism spectrum disorder: feasibility, acceptability, and drivers of success (IE Drmic et al.)

Frontiers in Pediatrics
BackgroundSocial ABCs is a caregiver-mediated Naturalistic Developmental Behavioral Intervention for toddlers with confirmed/suspected Autism Spectrum Disorder (ASD), with evidence in controlled research settings. Information is lacking on implementation
Irene Drmic, Jessica Brian, Jessica Brian, Caroline Roncadin, Chantelle Shaver, Marlene Pase, Natalie Rugajs, Kristina Tofano, Erin Dowds, Lonnie Zwaigenbaum, Isabel M. Smith, Susan E. Bryson   +11 more
doaj   +1 more source

Genomic Contributors to Congenital Diaphragmatic Hernia: Results of Exome Sequencing in 560 Probands and Cross Reference of Findings in an Independent Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT There is a strong genetic contribution to the etiology of congenital diaphragmatic hernia (CDH). This study evaluated genetic testing results and diagnostic yield for fetuses and children with CDH. This was a retrospective cohort study of exome sequencing (ES) performed at GeneDx for fetuses and children ≤ 18 years of age with CDH compared ...
Justin Blair, Kevin Carratu, Natalie E. Rintoul, Holly L. Hedrick, William H. Peranteau, Catherine M. Avitabile, Kirsty McWalter, Paul Kruszka, Ian D. Krantz, K. Taylor Wild   +9 more
wiley   +1 more source

Priorities for change for autistic people across Europe

Molecular Autism
Background Despite rising rates of autism prevalence, there remains a pressing need to enhance the quality of life for autistic people in Europe and around the world.
Siti Nurnadhirah Binte Mohd Ikhsan, Rosemary Holt, Amber Ruigrok, Joyce Man, Tracey Parsons, Kathryn Gibbs, Edward Bullock, Aurélie Baranger, Carrie Allison, Mary Doherty, Anjuli Ghosh, Jerneja Terčon, Katrien Van den Bosch, Simon Baron-Cohen   +13 more
doaj   +1 more source

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

Psychological Impact of Autism Screening on Caregivers. [PDF]

Autism Res
ABSTRACT Autism screening in childhood is common, yet little is known about its potential psychological impact on caregivers. The U.S. Preventive Services Task Force, an independent national panel of disease prevention experts, stated that this gap in knowledge limited their ability to endorse universal autism screening.
Aishworiya R, Gangi D, Ma VK, Parikh C, Yusoff NA, Likhitweerawong N, Ozonoff S.   +6 more
europepmc   +2 more sources

Adaptation to different communicative contexts: an eye tracking study of autistic adults

Journal of Neurodevelopmental Disorders, 2019
Background Learning through social observation (i.e., watching other people interact) lays the foundation for later social skills and social cognition. However, social situations are often complex, and humans are only capable of attending to one aspect ...
Julia Parish-Morris, Ashley A. Pallathra, Emily Ferguson, Brenna B. Maddox, Alison Pomykacz, Leat S. Perez, Leila Bateman, Juhi Pandey, Robert T. Schultz, Edward S. Brodkin   +9 more
doaj   +1 more source