Results 11 to 20 of about 9,663 (193)

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

open access: yesAmerican 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   +4 more
wiley   +1 more source

Diagnóstico genético e clínico do autismo infantil Genetic and clinical diagnosis of infantile autism

open access: yesArquivos de Neuro-Psiquiatria, 1998
Os principais objetivos deste estudo foram caracterizar variáveis selecionadas para um melhor entendimento e diagnóstico do autismo infantil, tais como: achados clínicos e de imagem, critérios diagnósticos, frequência de distúrbios neuropsiquiátricos nos
MARIA IONE FERREIRA DA COSTA   +1 more
doaj   +1 more source

Comorbidity of autism with hyperkinetic disorder

open access: yesEuropean Psychiatry, 2021
Introduction Autism spectrum disorders encompass a heterogeneous group of neurodevelopmental disorders. Autism may be accompanied by other mental and neurological disorders.
A. Koval-Zaytsev   +2 more
doaj   +1 more source

Neurocognitive follow‐up in adult siblings with Phelan–McDermid syndrome due to a novel SHANK3 splicing site mutation

open access: yesMolecular Genetics & Genomic Medicine, 2021
Background Phelan–McDermid syndrome (PMD) is usually not only caused by 22q13.3 deletion but also pathogenic variants (mutations) of SHANK3 gene. PMD is characterized by global intellectual disability, severely delayed or absent speech, and features of ...
Minna Kankuri‐Tammilehto   +2 more
doaj   +1 more source

CONCOMITANCE OF INFANTILE AUTISM AND EPILEPSY: ETIOPATHOGENIC ASPECTS

open access: yesНеврология, нейропсихиатрия, психосоматика, 2009
The pathogenetic aspects of a concomitance of infantile autism and epilepsy are considered. Data on the implication of genetic and organic disorders and epileptiform activity in the origin of these disorders are given.
E. V. Malinina   +2 more
doaj   +1 more source

Disturbances of Shared Intentionality in Schizophrenia and Autism

open access: yesFrontiers in Psychiatry, 2021
Schizophrenia and autism are today considered complex spectrum disorders characterized by difficulties in social behavior. Drawing on recent advances in collective or shared intentionality studies, we present a novel theoretical approach to these social ...
Alessandro Salice   +2 more
doaj   +1 more source

Epilepsy Association with Infantile Autism

open access: yesPediatric Neurology Briefs, 2011
The prevalence and types of epilepsy and other CNS diseases among 118 individuals diagnosed as children (median age 4 years) with infantile autism (IA) and 336 matched controls from the general population were determined in a longitudinal study at ...
J Gordon Millichap
doaj   +1 more source

Some misconceptions about infantile autism

open access: yesSouth African Journal of Communication Disorders, 1969
Recent studies throw light on certain widespread misconceptions about infantile autism and offer rational alteratives: (a) Autism should not be considered a disturbance in affective contact but a cognitive and perceptual difficulty.
E. B. Pletz
doaj   +1 more source

Impact of Some Toxic Factors Influencing Autism: A Case Control Study among Some Egyptian Children [PDF]

open access: yesAin Shams Journal of Forensic Medicine and Clinical Toxicology, 2012
Autism is a neurodevelopmental disorder diagnosed clinically on the basis of deficits in social interaction, communication, and range of interests and activities.
Eman El-Sheshtawy   +3 more
doaj   +1 more source

Lenguaje irrelevante y metafórico en el autismo infantil temprano

open access: yesRevista de Psicología, 2023
Este artículo apareció por primera vez en 1946 en la revista American Journal of Psychiatry con el título de “Irrelevant and metaphorical language in early infantile autism”.
Nora Cecilia Carbone   +1 more
doaj   +1 more source

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