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Iranian Journal of Psychiatry, 2012 The aim of the present study was to compare the broader autism phenotype in Iranian parents of children with autism spectrum disorders and parents of typically developing children.Parents of children with ASD and parents of typically developing children ...
Mohammad Reza Mohammadi +2 more
doaj +2 more sources
Disruption of DDX53 coding sequence has limited impact on iPSC-derived human NGN2 neurons
BMC Medical Genomics, 2023 Background The X-linked PTCHD1 locus is strongly associated with autism spectrum disorder (ASD). Males who carry chromosome microdeletions of PTCHD1 antisense long non-coding RNA (PTCHD1-AS)/DEAD-box helicase 53 (DDX53) have ASD, or a sub-clinical form ...
Muhammad Faheem +15 more
doaj +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli +18 more
wiley +1 more source
Brief report : the level and nature of autistic intelligence revisited [PDF]
, 2008 Owing to higher performance on the Raven’s Progressive Matrices (RPM) than on the Wechsler Intelligence Scales (WIS), it has recently been argued that intelligence is underestimated in autism.
Bölte, Sven +2 more
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo +3 more
wiley +1 more source
The relationship between temperament and autistic traits in a non-clinical students sample. [PDF]
PLoS ONE, 2015 Since temperament affects the development of social behaviours and interpersonal relations, the possible links between autistic traits and temperament are of particular interest.
Ewa Pisula +3 more
doaj +1 more source
Prominent autistic traits and subthreshold bipolar/mixed features of depression in severe anorexia nervosa [PDF]
, 2019 Autistic traits are associated with a burdensome clinical presentation of anorexia nervosa (AN), as is AN with concurrent depression. The aim of the present study was to explore the intertwined association between complex psychopathology combining ...
Anastasia, Annalisa +6 more
core +1 more source
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT Women with the FMR1 premutation (PM) are at increased risk for fragile X‐associated conditions (FXPAC), including cognitive and psychiatric features collectively termed fragile X‐associated neuropsychiatric disorders (FXAND). This study is the first to systematically investigate cognitive and psychiatric features in Italian female premutation ...
Federica Alice Maria Montanaro +5 more
wiley +1 more source
Quality of life in parents of young adults with ASD : EpiTED cohort [PDF]
, 2017 The impact of ASD on parental QOL was evaluated in the EpiTED cohort study at early adulthood. Two-third of parents of young adults with ASD (66.7%) reported that their QoL was at least moderately altered.
Baghdadli, Amaria +3 more
core +3 more sources
Cognitive processes predicting advanced theory of mind in the broader autism phenotype [PDF]
Autism Research, 2019 Little is known about executive functions (EFs) associated with advanced theory of mind (ToM) abilities. We aimed to determine if advanced ToM abilities were reduced in individuals with subclinical traits of autism spectrum disorder (ASD), known as the “Broader Autism Phenotype” (BAP), and identify the EFs that predicted unimpaired performance on an ...
Cherie C. Green +4 more
openaire +3 more sources