Results 1 to 10 of about 9,476 (139)

Infantile autism and Mitteleuropa. [PDF]

open access: yesTurk Pediatri Ars, 2018
In the chapter dedicated to the Pervasive Developmental Disorders in the Diagnostic and Statistical Manual of Mental Disorders, 4th Edition (DSM-IV), which was published in 1994, various nosographic entities born in the scientific context of Mitteleuropa found recognition, even though with a delay of several decades.
Posar A, Visconti P.
europepmc   +4 more sources

Neuropathology of Infantile Autism [PDF]

open access: yesJournal of Neuropathology and Experimental Neurology, 1998
T L Kemper, Margaret L Bauman
exaly   +5 more sources

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

Infantilizing Autism

open access: yesDisability Studies Quarterly, 2011
When members of the public envision the disability of autism, they most likely envision a child, rather than an adult. In this empirically based essay, three authors, one of whom is an autistic self-advocate, analyzed the role played by parents, charitable organizations, the popular media, and the news industry in infantilizing autism.
Jennifer L, Stevenson   +2 more
openaire   +2 more sources

Electroencephalographic Normalization as a Biomarker of Clinical Recovery in Down Syndrome Regression Disorder

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Down syndrome regression disorder is a syndrome characterized by subacute loss of cognitive, behavioral, and functional abilities in individuals with Down syndrome. Electroencephalography abnormalities are frequently observed during evaluation, but it remains unclear whether these findings represent a dynamic marker of disease ...
Jonathan D. Santoro   +14 more
wiley   +1 more source

Auditory Sensitivity in Autism: A Systematic Review of Mismatch Negativity and Mismatch Field Responses

open access: yesAutism Research, EarlyView.
ABSTRACT Auditory mismatch responses—mismatch negativity (MMN) and mismatch fields (MMF)—are well established electrophysiological markers of automatic auditory discrimination supported by short‐term sensory memory. These responses, typically elicited using passive oddball paradigms, are increasingly used to investigate sensory and language processing ...
Sara Cacciato‐Salcedo   +4 more
wiley   +1 more source

Neonatal Seizures in Tuberous Sclerosis Complex: A Case Series

open access: yesAnnals of the Child Neurology Society, EarlyView.
ABSTRACT Background Epilepsy affects up to 90% of patients with tuberous sclerosis complex (TSC); earlier seizure onset is associated with worse neurocognitive outcomes. The incidence of neonatal seizures in TSC is unknown, although in a recent multicenter trial 23% of infants with TSC were excluded prior to randomization because of pre‐existing ...
Kristina Jülich, Kristen Arredondo
wiley   +1 more source

Psychological Treatment for Pediatric Feeding Disorder (PFD) and Avoidant Restrictive Feeding Intake Disorder (ARFID)

open access: yesInternational Journal of Eating Disorders, EarlyView.
ABSTRACT Objective To produce a consensus statement on the psychological treatment of feeding/eating aversions seen in pediatric feeding disorder (PFD) and avoidant/restrictive food intake disorder (ARFID), diagnoses that share common symptoms and psychological mechanisms but have historically been addressed separately in the literature. Method To help
Colleen T. Lukens   +12 more
wiley   +1 more source

Bidirectional sleep‐seizure interactions and orexin in a mouse model of tuberous sclerosis complex‐related epilepsy

open access: yesEpilepsia, EarlyView.
Abstract Objective A strong bidirectional relationship exists between epilepsy and sleep, with seizures often occurring more frequently in sleep and, in turn, sleep being disrupted by seizures. However, the mechanistic basis of seizure–sleep interactions is poorly understood.
Nicholas R. Rensing   +4 more
wiley   +1 more source

Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis: A shared phenotype across brain‐expressed sodium channelopathies

open access: yesEpilepsia, EarlyView.
Abstract Objective Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis (NDEEMA) represents the most severe end of the gain‐of‐function (GOF) SCN1A disorder spectrum. Sporadic cases of congenital arthrogryposis have also been reported in individuals with SCN2A‐, SCN3A‐, and SCN8A‐related developmental and ...
Sopio Gverdtsiteli   +43 more
wiley   +1 more source

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