Results 131 to 140 of about 827,442 (390)

Quality of Life of Families Who Have Children With Cornelia de Lange Syndrome in Brazil: Opportunities for Improvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This exploratory cross‐sectional study aimed to estimate the family quality of life (FQoL) among 70 Brazilian families with children with Cornelia de Lange syndrome (CdLS). Data were collected using sociodemographic and clinical data forms, the Barthel index for activities of daily living, and the Beach Center FQoL Scale, a 5‐point Likert tool
Aline Apis, Beatriz Carvalho Nunes, Thainá Vilella, Rafaela Catelan Martins Pereira, Rui Fernando Pilotto, Lucimar Retto da Silva de Avó, Maria Isabel Melaragno, Carla Maria Ramos Germano, Débora Gusmão Melo   +8 more
wiley   +1 more source

Anxiety problems in young people with Asperger syndrome: a case series [PDF]

, 2011
It is now well established that the prevalence of mental health difficulties in individuals with autism spectrum disorders (ASD) is considerably higher than in the general population.
Knott, Fiona, Ozsivadjian, A.
core   +1 more source

Addressing the Diagnostic Odyssey for Adults With Neurodevelopmental Disabilities: Case Study of an Individual With Mandibulofacial Dysostosis With Microcephaly

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Whole exome sequencing (WES) has been widely used in the pediatric setting to increase diagnostic yield, provide treatment options, and to estimate reoccurrence risks. However, there is limited knowledge regarding the utility of this technology in adults with neurodevelopmental disabilities.
Ruhi Shah, Neora Shifrin, Mary Ellen Keogh, Elaine Marchi, Maureen Gavin, Karen Amble, Gholson J. Lyon   +6 more
wiley   +1 more source

On the aetiology of autism [PDF]

Acta Paediatrica, 2010
I have suggested that the primary environmental trigger for autism is not vaccinations, toxins or infections, but gestational and early childhood vitamin D deficiency (1,2). Subsequently, the title of an article in Scientific American recently asked, ‘What if vitamin D deficiency is a cause of autism?’ (3) Since then, an article on vitamin D and autism
openaire   +3 more sources

Multiple Genomic Technologies Validate Rare Novel Variant and Direct Medical Care in Vascular Anomalies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Some vascular anomalies, such as hamartomas associated with PTEN hamartoma tumor syndrome (PHTS) and fibroadipose vascular anomaly (FAVA, often due to PI3KCA variants), share similar clinical, radiological, and histopathological presentations that challenge clinicians to provide an accurate diagnosis.
Luciana Daniela Garlisi Torales, Kristina Woodis, Allison Britt, Lea F. Surrey, Abhay Srinivasan, Arupa Ganguly, Maria Limmina, Dong Li, Suzanne P. MacFarland, Denise M. Adams, Sarah E. Sheppard   +10 more
wiley   +1 more source

Autistic and transgender/gender diverse people’s experiences of health and healthcare

Molecular Autism
Background Autistic people and transgender/gender diverse people experience poorer healthcare experiences and greater risk of diagnosed, suspected, and assessment recommended health conditions, compared to non-autistic and cisgender individuals ...
Kate Green, Elizabeth Weir, Lily Wright, Carrie Allison, Simon Baron-Cohen   +4 more
doaj   +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

Stability of the Autism Diagnostic Interview—Revised from Pre-School to Elementary School Age in Children with Autism Spectrum Disorders [PDF]

, 2008
This study examined the stability of scores on the ADI-R from pre-school to elementary school age in children with autism spectrum disorders (ASD). Participants were 35 children who, at T1, all had a clinical diagnosis of ASD. On initial assessment (mean
A. Cox, C. Lord, C. Lord, C. McGovern, D. Wechsler, D. Wechsler, D. Wechsler, E. Billstedt, E. Starr, I. Magiati, Iliana Magiati, J. Coplan, J. Piven, Jo Moss, K. Chawarska, L. Eaves, L. M. Dunn, L. M. Turner, M. F. Gardner, M. G. Edelson, M. Rutter, M. Seltzer, N. Bayley, P. Howlin, P. Shattuck, Patricia Howlin, R. Brownell, R. Stutsman, S Boelte, S. Fecteau, S. Risi, S. S. Sparrow, S. Sutera, T Charman, T. Charman, Tony Charman, V. Moore, W. Stone   +37 more
core   +2 more sources

The Behavioral Phenotype and Importance of Multidisciplinary Care in Patients With Sotos Syndrome: A Single‐Center Experience

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Sotos syndrome is an autosomal dominant condition caused by pathogenic variants in the NSD1 gene on chromosome 5q35. It is characterized by macrosomia, distinctive facial features, and developmental delays. Patients are also reported to have a behavioral phenotype including autism spectrum disorder, attention deficit/hyperactivity disorder ...
Aravind Viswanathan, Andrew M. George, Evan R. Hathaway, Carlyn Glatts, Jennifer M. Kalish   +4 more
wiley   +1 more source

Moral foundations in autistic people and people with systemizing minds

Molecular Autism
Background Do autistic people share the same moral foundations as typical people? Here we built on two prominent theories in psychology, moral foundations theory and the empathizing–systemizing (E–S) theory, to observe the nature of morality in autistic ...
Yeshaya David M. Greenberg, Rosemary Holt, Carrie Allison, Paula Smith, Robbie Newman, Theo Boardman-Pretty, Jonathan Haidt, Simon Baron-Cohen   +7 more
doaj   +1 more source