Results 91 to 100 of about 219,712 (351)

Parents' experiences of applied behaviour analysis (ABA)‐based interventions for children diagnosed with autistic spectrum disorder

, 2013
Applied behaviour analysis (ABA)-based programmes are endorsed as the gold standard for treatment of children with autistic spectrum disorder (ASD) in most of North America. This is not the case in most of Europe, where instead a non-specified ‘eclectic’
Catherine McPhilemy, K. Dillenburger
semanticscholar   +1 more source

Autistic Spectrum disorder and Anaesthesia

World Journal of Advanced Research and Reviews
One of the groups of patients which may require the greatest flexibility of approach is those with autistic spectrum disorder (ASD). ASD is a lifelong developmental disability, affecting four times as many males than females, which affects how a person communicates with, and relates to, other people and the world around them.
openaire   +1 more source

Two New Cases Expand the Phenotypic Spectrum of TUBG1 Missense Variants

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The gamma‐tubulin ring complex (γ‐TuRC) plays a role in coordinating centrosome and spindle pole body formation during cell division. TUBG1 encodes a critical component of the γ‐TuRC. Pathogenic TUBG1 variants can cause a range of alterations in cortical gyral patterning, microcephaly, and other neurological manifestations.
Roser Urreizti, Jessica Vissicchio, Mohamed Idries, Monica Cozar, Raquel Rabionet, Tyhiesia Donald, Elizabeth J. Bhoj, Tomoki T. Nomakuchi, Shannon C. Shipley, Andrew E. Timms, Ghayda M. Mirzaa, Mercedes Serrano, Andrew K. Sobering   +12 more
wiley   +1 more source

Exploring Oral Health Related Quality of Life in Rett Syndrome Using Directed Content Analysis

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT No validated oral health‐related quality of life (OHRQOL) instrument currently exists for those with severe intellectual and developmental disabilities and who communicate non‐verbally. This qualitative study aimed to explore the domains that were important to the oral health‐related quality of life in individuals with Rett syndrome (RTT).
Yvonne Yee Lok Lai, Jenny Anne Downs, Helen Margaret Leonard, Laurence James Walsh, Sobia Zafar   +4 more
wiley   +1 more source

Presence and correlates of autistic traits among patients with social anxiety disorder

Frontiers in Psychiatry
IntroductionDue to their similar behavioral presentation, it can sometimes be challenging to distinguish between a social anxiety disorder (SAD) and the social avoidance that is frequently described in autism spectrum disorder (ASD).
Barbara Carpita, Benedetta Nardi, Chiara Bonelli, Enrico Massimetti, Giulia Amatori, Ivan Mirko Cremone, Stefano Pini, Liliana Dell’Osso   +7 more
doaj   +1 more source

Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The interstitial 6p microdeletion syndrome is characterized by dysmorphic facies and structural heart, kidney, brain, and musculoskeletal differences. RREB1 haploinsufficiency and consequent abnormal RAS‐MAPK pathway signaling have been proposed as a driver of the disease phenotype; however, apart from a single case report, the phenotype of ...
Alanna Strong, Caoimhe McKenna, Karen Stals, Antonio Vitobello, Mathilde Renaud, Claudine Rieubland, Michel Guipponi, Christophe Philippe, Paul Vrana, Alisa Gaskell, A. Micheil Innes, Alyssa L. Rippert, Rebecca Ahrens‐Nicklas, Elizabeth Bhoj, Kiersten Keller, Bimal P. Chaudhari, Brandon S. Stone   +16 more
wiley   +1 more source

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

Autistic Symptoms in Schizophrenia Spectrum Disorders: A Systematic Review and Meta-Analysis

Frontiers in Psychiatry, 2019
Background: Recent studies have examined the association between autism spectrum disorder and schizophrenia spectrum disorders, describing a number of cognitive features common to both conditions (e.g., weak central coherence, difficulties in set ...
Franco De Crescenzo, Franco De Crescenzo, Franco De Crescenzo, Valentina Postorino, Valentina Postorino, Martina Siracusano, Martina Siracusano, Assia Riccioni, Marco Armando, Paolo Curatolo, Luigi Mazzone   +10 more
doaj   +1 more source

Hard to “tune in”: neural mechanisms of live face-to-face interaction with high-functioning autistic spectrum disorder

Frontiers in Human Neuroscience, 2012
Persons with autism spectrum disorders (ASD) are known to have difficulty in eye contact (EC). This may make it difficult for their partners during face to face communication with them. To elucidate the neural substrates of live inter-subject interaction
H. Tanabe, H. Kosaka, D. Saito, T. Koike, Masamichi J. Hayashi, Keise Izuma, Hidetsugu Komeda, M. Ishitobi, M. Omori, T. Munesue, H. Okazawa, Y. Wada, N. Sadato   +12 more
semanticscholar   +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