Results 141 to 150 of about 171,338 (299)

Autism and the U.K. secondary school experience

, 2014
This research investigated the self-reported mainstream school experiences of those diagnosed on the autistic spectrum compared with the typically developing school population.
Underwood, JDM, Freemantle, LJ, Dillon, GV   +2 more
core   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

A scoping review of deictic gesture use in toddlers with or at-risk for autism spectrum disorder

Autism and Developmental Language Impairments, 2018
Background and aims Young children use deictic gestures, such as pointing, to indicate referents in their immediate environment. Early deictic gesture use is important in facilitating the development of language.
Stacy S Manwaring, Ashley L Stevens, Alfred Mowdood, Mellanye Lackey   +3 more
doaj   +1 more source

Selective attention and perceptual load in autism spectrum disorder

, 2010
This thesis examines selective attention in young adults with Autism Spectrum Disorder (ASD). Existing literature regarding this issue is mixed; some research suggesting an overly-focused attentional style (Rincover & Ducharme, 1987) while others ...
Remington, A.M.
core  

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Association between parental psychiatric disorders and risk of offspring autism spectrum disorder: a Swedish and Finnish population-based cohort studyResearch in context

The Lancet Regional Health. Europe
Summary: Background: Roughly more than one in six adults worldwide suffer from psychiatric conditions. Sporadic studies have associated parental psychiatric disorders with autism spectrum disorder in offspring.
Weiyao Yin, Anna Pulakka, Abraham Reichenberg, Alexander Kolevzon, Jonas F. Ludvigsson, Kari Risnes, Marius Lahti-Pulkkinen, Martina Persson, Michael E. Silverman, Ulrika Åden, Eero Kajantie, Sven Sandin   +11 more
doaj   +1 more source

Autism Spectrum Disorder What Every Parent Needs to Know

Front Cover -- Title Page -- Copyright -- From the Editors -- Contents -- Please Note -- Acknowledgments -- Chapter 1. What Is Autism Spectrum Disorder? -- Chapter 2. What Causes Autism Spectrum Disorder? -- Chapter 3.
Rosenblatt, MD, FAAP, Alan I., Carbone, MD, FAAP, Paul S., Pediatrics, American Academy of.   +2 more
core  

Judicial Perspectives on Neurodiversity in Queensland Courts, Tribunals and Commissions: Experiences With Disclosure and Witness Credibility

Australian Journal of Social Issues, EarlyView.
ABSTRACT Little is known about the impacts of the disclosure, or the non‐disclosure, of medical conditions associated with neurodiversity in the context of court proceedings and hearings before tribunals and commissions. This paper examines the experiences of twenty‐three Queensland Judges, Magistrates, and Tribunal and Commission Members with ...
Danielle Bozin, Karen A. Sullivan, Vincent Denault, Catherine Kennon, Lucy Cradduck, Rachel Hews   +5 more
wiley   +1 more source