Results 41 to 50 of about 24,501 (230)

Brief report : imitation of meaningless gestures in individuals with Asperger syndrome and high-functioning autism [PDF]

, 2008
Nineteen people with Asperger syndrome (AS)/High-Functioning Autism (HFA) (ages 7-15) were tested on imitation of two types of meaningless gesture: hand postures and finger positions.
Carletta, Jean, Corley, Martin, Rajendran, Gnanathusharan, Stieglitz Ham, Heidi, Swanson, Sara   +4 more
core   +1 more source

Oral health difficulties in children and adolescents with autism spectrum disorder: Parental perception [PDF]

Srpski Arhiv za Celokupno Lekarstvo, 2018
Introduction/Objective. Autism spectrum disorder (ASD) is characterized by features that have the potential to make oral hygiene and dental appointments challenging. The aim of this study was to investigate difficulties related to oral hygiene and dental
Radović Ivana, Juloski Jelena, Josić Uroš, Beloica Miloš, Kosanović Dušan   +4 more
doaj   +1 more source

Disruption to control network function correlates with altered dynamic connectivity in the wider autism spectrum. [PDF]

, 2017
Autism is a common developmental condition with a wide, variable range of co-occurring neuropsychiatric symptoms. Contrasting with most extant studies, we explored whole-brain functional organization at multiple levels simultaneously in a large subject ...
Calhoun, VD, de Lacy, N, Doherty, D, King, BH, Rachakonda, S   +4 more
core   +1 more source

Rett Syndrome: Revised diagnostic criteria and nomenclature [PDF]

, 2010
Objective: Rett syndrome (RTT) is a severe neurodevelopmental disease that affects approximately 1 in 10,000 live female births and is often caused by mutations in Methyl-CpG-binding protein 2 (MECP2). Despite distinct clinical features, the accumulation
Amir, Archer, Ariani, Artuso, Bahi-Buisson, Carney, Christen, Einspieler, Goutieres, Hagberg, Hagberg, Hagberg, Hagberg, Hanefeld, Huppke, Kankirawatana, Leonard, Neul, Percy, Renieri, Rett, Rolando, Wan, Watson, Zappella   +24 more
core   +1 more source

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling, Mark D. Parker, Sven Kerst, Richard A. Pasternack, Jacob Tondreau, Marjolein Breur, Gemma M. van Rooijen‐van Leeuwen, Davide Tonduti, Ettore Salsano, Alejandra Darling, Joanna A. E. van Wijk, Susanna Törnroth‐Horsefield, Marianna Bugiani, Petra J. W. Pouwels, Quinten Waisfisz, Marjo S. van der Knaap, Rogier Min   +16 more
wiley   +1 more source

New insights into the pathogenesis and prevention of tuberous sclerosis-associated neuropsychiatric disorders (TAND) [version 1; referees: 3 approved]

F1000Research, 2017
Tuberous sclerosis complex (TSC) is a multi-system disorder resulting from mutations in either the TSC1 or TSC2 genes leading to hyperactivation of mechanistic target of rapamycin (mTOR) signaling.
Tanjala T. Gipson, Michael V. Johnston
doaj   +1 more source

A Review on the Cognitive Neuroscience of Autism [PDF]

, 2005
With increased recognition in the media, heightened prevalence, and advances in research technologies, investigation into the causes of autism has broadened in recent years.
Koyama, Alain
core  

Genetic Diagnosis and Discovery Enabled by Large Language Models

Advanced Science, EarlyView.
We demonstrate that large language models (LLMs) can facilitate genetic diagnosis and discovery. LLMs were used to solve four types of genetic problems of sequentially increased complexity. An LLM‐based pipeline could analyze genetic variants in the genomic sequences of human hearing loss or rare genetic disease patients and assist in identifying ...
Tao Tu, Khaled Saab, Weida Liu, Zhouqing Fang, Zhuanfen Cheng, Svetolik Spasic, Maja Djurisic, Hiroaki Mohri, Wenlong Ren, Anil Palepu, Juraj Gottweis, Alan Karthikesalingam, Kavita Kulkarni, Annalisa Pawlosky, Devon Bonner, Elijah Kravets, Shruti Marwaha, Hector R. Mendez, Matthew T. Wheeler, Jonathan A. Bernstein, Undiagnosed Diseases Network, Cheng‐Yu Tsai, Chen‐Chi Wu, Konstantina M. Stankovic, Vivek Natarajan, Gary Peltz   +25 more
wiley   +1 more source

Teacher of Special Education and teaching- learning process of students with autism

Revista Educação Especial, 2013
This paper has as subject autism, and sought to verify how the process of teaching and learning of students with autism occurs in a special education school. The Infantile Autism is today sorted as one of the “Global Developmental Disorders (PDD)” and is
Andréa R. dos S. Boettger Giardinetto, Ana Carla Lourenço, Vera Lucia M. Fialho Capellini   +2 more
doaj   +1 more source

Autism, the Integrations of 'Difference' and the Origins of Modern Human Behaviour [PDF]

, 2009
It is proposed here that the archaeological evidence for the emergence of 'modern behaviour' (160,000-40,000 bp) can best be explained as the rise of cognitive variation within populations through social mechanisms for integrating 'different minds ...
Spikins, Penny
core   +1 more source