Results 31 to 40 of about 9,663 (193)
Annals 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
An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula +8 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 +2 more
doaj +1 more source
International 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
Modern problems of diagnosis of autism [PDF]
Психологическая наука и образование (2007. Online), 2014 After a brief analysis of the autism problem history in domestic and foreign literature, the authors clarifiy the concept of autism as a form of personality pathology.
N.M. Iovchuk, A.A. Severnyi
doaj
Epileptic Disorders, EarlyView.Abstract Objective To evaluate the diagnostic utility and genetic spectrum of next‐generation sequencing (NGS) in a large, well‐phenotyped cohort of Turkish pediatric patients with epilepsy of unknown etiology. Methods Between January 2021 and December 2024, 250 children (115 female, 135 male) with unexplained epilepsy underwent either whole‐exome ...
Derya Karaer +4 more
wiley +1 more source
Frontiers in Psychiatry, 2019 Individuals with autism spectrum disorder (ASD) frequently display intensely repetitive, restricted thoughts, and behaviors. These behaviors have similarities to compulsions and/or obsessions in obsessive compulsive disorder (OCD) and are primarily ...
Anna Järvinen +4 more
doaj +1 more source
Epileptic Disorders, EarlyView.Abstract The 15q11.2 microdeletion is a chromosomal condition associated with a broad epileptic phenotype. It is differentiated from Angelman syndrome, which is typically a larger maternal deletion in an overlapping area. We describe a patient with a 15q11.2 microdeletion that has clinical and EEG biomarker features similar to those seen in Angelman ...
Hok Leong Chin +2 more
wiley +1 more source
Psychotic spectrum disorders in childhood [PDF]
Srpski Arhiv za Celokupno Lekarstvo, 2008 For a long time, there was a strong belief of existing continuity between childhood-onset psychoses and adult psychoses. Important moment in understanding psychotic presentations during infancy and childhood is Kanner's description of early infantile ...
Popović-Deušić Smiljka +4 more
doaj +1 more source
Epileptic Disorders, EarlyView.Abstract Objective Developmental and epileptic encephalopathies (DEEs) are characterized by refractory seizures and frequently recurring epileptic activity with neurodevelopmental delay or regression that usually begin in early life. We aimed to define the relationship between electroclinical features and etiology, as well as the genotype–phenotype ...
Burcu Yaman +7 more
wiley +1 more source