Clinical and genetic characterization of intellectual disability
This study examines the etiological factors and comorbidities in a large cohort of Finnish patients with intellectual disability. Genetic causes—including chromosomal abnormalities and pathogenic gene variants—were more frequently identified in individuals with moderate to profound intellectual disability.
Aarni Venetvaara +14 more
wiley +1 more source
Absence of spontaneous action anticipation by false belief attribution in children with autism spectrum disorder [PDF]
Recently, a series of studies demonstrated false belief understanding in young children through completely nonverbal measures. These studies have revealed that children younger than 3 years of age, who consistently fail the standard verbal false belief ...
Atsushi Senju +16 more
core +1 more source
ABSTRACT Smith‐Kingsmore syndrome (SKS) is a rare autosomal dominant condition characterized by neurodevelopmental differences, macrocephaly/megalencephaly, describable facial features, sleep–wake abnormalities, hyperphagia, and overgrowth. SKS is caused by pathogenic gain‐of‐function variants in MTOR which lead to hyperactivation of the mTOR pathway ...
Carolyn R. Raski, Carlos E. Prada
wiley +1 more source
Review: Recent Finding about Etiology of
Autism and the other disorders in the autism spectrum are behaviorally defined syndromes that can be a prolonged disorder. The specific underlying neurophysiologic mechanisms simply not known, but probably several causes lead to disorders in the autism ...
Parvaneh Karim-Zadeh
doaj
Kinaesthetic Intersubjectivity: : A dance informed contribution to self-other relatedness and shared experience in nonverbal psychotherapy with an example from Autism [PDF]
This document is the Accepted Manuscript version of the following article: Rosemarie Samaritter and Helen Payne, ‘Kinaesthetic intersubjectivity: A dance informed contribution to self-other relatedness and shared experience in non-verbal psychotherapy ...
Payne, Helen, Samaritter, Rosemarie
core +1 more source
Axon Initial Segment: Structure, Biological Functions, Diseases, and Therapeutic Targets
The axon initial segment (AIS) is a specialized axonal domain critical for maintaining neuronal polarity, action potential initiation, and network stability. This review summarizes the necessary elements for maintaining AIS structure and plasticity, discussing crucial biological functions of AIS in neuronal signaling and the neural circuit homeostasis,
Dong‐Yan Song +4 more
wiley +1 more source
The emotional contagion in children with autism spectrum disorder [PDF]
Studies of the last decade have demonstrated that children with Autism Spectrum Disorder (ASD) showed difficulties in language, social and relational areas, but they had also impairment in the mechanisms of embodied simulation, namely the imitative ...
Bianchi Di Castelbianco, F. +5 more
core
Combined targeted treatment in early onset epilepsy associated with tuberous sclerosis
Tuberous sclerosis is associated with epilepsy in up to 85% of cases, and in 2/3, the onset is within the first year of life. An early antiepileptic treatment is crucial to minimize the consequences of epilepsy on cognition and behavior.
Romina Moavero +3 more
doaj +1 more source
A case-control study of drug risk factors for age-related macular degeneration.
OBJECTIVE: To investigate the association between age-related macular degeneration (AMD) and exposure to antacids, antithyroids, thyroid hormones, and thiazide diuretics. DESIGN: Matched case-control study.
Chakravarthy, Usha +5 more
core +1 more source
Defining and distinguishing infant behavioral states using acoustic cry analysis: is colic painful? [PDF]
BackgroundTo characterize acoustic features of an infant's cry and use machine learning to provide an objective measurement of behavioral state in a cry-translator.
Alwan, Abeer +15 more
core

