Results 31 to 40 of about 105,746 (303)

Movements in autistic disorder

Medical Hypotheses, 1999
Autistic disorder, an extremely disabling syndrome with onset in early childhood, is associated with multiple comorbid conditions. Although autistic disorder is heterogeneous in its manifestations, there is a subgroup of individuals with autistic disorder who display movements that appear to be unique for the disorders.
openaire   +2 more sources

Executive function and autistic symptomatology in very young children [PDF]

, 2001
The Executive Function hypothesis proposes that the behavioural aspects of autism can be explained by impairment in executive function skills. The term 'executive function' refers to several cognitive skills including inhibitor)'control, generation of ...
Shearer, Heather
core  

Can sleep profiles predict autistic traits in siblings of children with autism spectrum disorder?

, 2021
Introduction: As the prevalence of ASD (autism spectrum disorder) continues to rise, so does the need to evaluate the impact of associated difficulties on both the diagnosed child and the immediate family.
Hala A. El-boraie, Alshaimaa A. Naeem, David Warren Spence, Nevin Fayez Zaki, Seithikurippu R. Pandi-Perumal, Mohammed E. Khater, Tamer A. Abou-Elsaad, Md. Dilshad Manzar   +7 more
core   +1 more source

Modulation of Homer1 EVH1 domain internal dynamics by putative autism‐associated mutations

FEBS Letters, EarlyView.
The putative autism‐associated M65I and S97L variants of the EVH1 domain of the postsynaptic scaffold protein Homer1 do not exhibit substantial changes in their overall structure or partner binding. Both of them, but especially the M65I variant, show altered internal dynamics relative to the wild‐type domain on the μs‐ms timescale, indicated by the ...
Fanni Farkas, Brigitta Maruzs, Zsófia E. Kálmán, Tomas Klumpler, Gyula Batta, Bálint Péterfia, Zoltán Gáspári   +6 more
wiley   +1 more source

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Are autistic traits measured equivalently in individuals with and without an Autism Spectrum Disorder?:An invariance analysis of the Autism Spectrum Quotient Short Form

, 2014
It is common to administer measures of autistic traits to those without autism spectrum disorders (ASDs) with, for example, the aim of understanding autistic personality characteristics in non-autistic individuals. Little research has examined the extent
Booth, Thomas, Kuenssberg, Renate, Murray, Aja Louise, Murray, Aja; id_orcid, McKenzie, Karen, Booth, Tom, O’Donnell, Michael   +6 more
core   +1 more source

Faces do not capture special attention in children with autism spectrum disorder: a change blindness study [PDF]

, 2009
Two experiments investigated attention of children with autism spectrum disorder (ASD) to faces and objects. In both experiments, children (7- to 15-year-olds) detected the difference between 2 visual scenes.
Hasegawa, T., Tojo, Y., Kikuchi, Y., Senju, Atsushi, Osanai, H.   +4 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

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei, Elena Parrini, Claudia Bianchini, Maria Luisa Ricci, Renzo Guerrini   +4 more
wiley   +1 more source

Autistic traits and autism spectrum disorders : the clinical validity of two measures presuming a continuum of social communication skills

, 2010
Research indicates that autism is the extreme end of a continuously distributed trait. The Social Responsiveness Scale (SRS) and the Social and Communication Disorders Checklist (SCDC) aim to assess autistic traits.
Westerwald, Eva, Westerwald, E., Westerwald, E, Holtmann, M, Holtmann, M., Bölte, Sven, Freitag, C, Christine Freitag, Bolte, S, Holtmann, Martin, Eva Westerwald, Sven Bölte, Freitag, C., Fritz Poustka, Freitag, Christine M., Martin Holtmann, Poustka, F., Poustka, F, Poustka, Fritz   +18 more
core   +1 more source