Results 101 to 110 of about 361,059 (344)

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

درجة الفروق في امتلاك مهارات الضبط الذاتي لدى عينة من الأشخاص الناطقين وغير الناطقين ذوي اضطراب طيف التوحد بدولة الكويت [PDF]

, 2018
The present study aimed at studying the differences in the degree of self-control skills in a sample of spoken and non-spoken persons with autism spectrum disorder in Kuwait.
الزريقات, ابراهيم, الصفران, عبير   +1 more
core  

Crowding and visual search in high functioning adults with autism spectrum disorder [PDF]

, 2010
Purpose: Individuals with autism spectrum disorder have demonstrated faster reaction times when searching for objects in a visual scene. One possible explanation for this observation is that the influence of crowding may not be as strong within this ...
Bowler, D. M., Constable, P. A., Gaigg, S. B., Solomon, J. A.   +3 more
core   +1 more source

Autism Spectrum Disorders [PDF]

Neuron, 2000
Lord, Catherine, Cook, Edwin H, Leventhal, Bennett L, Amaral, David G   +3 more
openaire   +2 more sources

Autism spectrum disorder.

Autism spectrum disorder (ASD) is characterized by deficits in social communication and social interaction together with restrictive, repetitive, and inflexible patterns of behavior including routines, rituals, and overfocused interests, sensory sensitivities, and motor stereotypies (e.g., hand flapping when excited or anxious).
Skuse, David, Greaves-Lord, Kirstin, Rodrigues da Cunha, G, Baird, Gillian   +3 more
openaire   +2 more sources

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel Del Campo, Lynne M. Bird   +3 more
wiley   +1 more source

The Webometric Evaluation for Hamadan University of Medical Sciences in Comparison with Top-ranked World and Iranian Medical Universities

پژوهان, 2019
Background and Objective: Considering the increasing importance of world web wide for the promotion of scientific/educational level of universities, the quality of web presence has been the center of attention during recent years.
Sajjad Farashi, Saeed Bashirian, Sepideh Zareian   +2 more
doaj  

The First Reported Case of an Inherited Pathogenic Variant in DEAF1 From a Parent With Milder Phenotype Provides Evidence of Variable Gene Expressivity of the DEAF1‐Associated Vulto‐van Silfout‐de Vries Syndrome (VSVS)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT DEAF1‐associated neurodevelopmental disorder (DAND) is a neurodevelopmental spectrum disorder caused by two methods of inheritance: the autosomal dominant intellectual disability syndrome (Vulto‐van Silfout‐de Vries syndrome (VSVS), OMIM #615828), and the autosomal recessive Neurodevelopmental disorder with hypotonia and impaired expressive ...
Kylie Katz, Philip Jensik, Milen Velinov
wiley   +1 more source

Neurodevelopmental and Psychiatric Studies in Children and Adolescents With Neurofibromatosis Type I: A Comprehensive Scoping Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT A comprehensive synthesis of the broad range of neurodevelopmental and psychiatric manifestations in NF1 is needed to identify knowledge gaps and future directions for NF1 research. In the following scoping review, we identify and summarize the scope of research that examines neurodevelopmental and psychiatric manifestations, both as ...
Meera Chopra, Tin‐Suet Joan Lee, Jacob Vorstman, Patricia Parkin, Louise Gallagher, Aneta Krakowski   +5 more
wiley   +1 more source