Search results for "Autistic Disorder"
showing 10 items of 50 documents
Incomplete Timothy syndrome secondary to a mosaic mutation of the CACNA1C gene diagnosed using next-generation sequencing.
2016
Autosomal dominant genetic diseases can occur de novo and in the form of somatic mosaicism, which can give rise to a less severe phenotype, and make diagnosis more difficult given the sensitivity limits of the methods used. We report the case of female child with a history of surgery for syndactyly of the hands and feet, who was admitted at 6 years of age to a pediatric intensive care unit following cardiac arrest. The electrocardiogram (ECG) showed a long QT interval that on occasions reached 500 ms. Despite the absence of facial dysmorphism and the presence of normal psychomotor development, a diagnosis of Timothy syndrome was made given the association of syndactyly and the ECG features.…
Alterations in Tau Protein Level and Phosphorylation State in the Brain of the Autistic-Like Rats Induced by Prenatal Exposure to Valproic Acid
2021
Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by deficient social interaction and communication besides repetitive, stereotyped behaviours. A characteristic feature of ASD is altered dendritic spine density and morphology associated with synaptic plasticity disturbances. Since microtubules (MTs) regulate dendritic spine morphology and play an important role in spine development and plasticity the aim of the present study was to investigate the alterations in the content of neuronal α/β-tubulin and Tau protein level as well as phosphorylation state in the valproic acid (VPA)-induced rat model of autism. Our results indicated that maternal exposure to VPA indu…
NEGR1 and FGFR2 cooperatively regulate cortical development and core behaviours related to autism disorders in mice.
2018
See Contreras and Hippenmeyer (doi:10.1093/brain/awy218) for a scientific commentary on this article. Autism spectrum disorders (ASDs) are complex conditions with diverse aetiologies. Szczurkowska et al. demonstrate that two ASD-related molecules – FGFR2 and Negr1 – physically interact to act on the same downstream pathway, and regulate cortical development and ASD-relevant behaviours in mice. Identifying common mechanisms in ASDs may reveal targets for pharmacological intervention.
Beyond protein-coding genes
2019
A long non-coding RNA called lnc-NR2F1 regulates several neuronal genes, including some involved in autism and intellectual disabilities.
A framework of evidence-based practice for digital support, co-developed with and for the autism community
2020
A wide array of digital supports (such as apps) have been developed for the autism community, many of which have little or no evidence to support their effectiveness. A Delphi study methodology was used to develop a consensus on what constitutes good evidence for digital supports among the broader autism community, including autistic people and their families, as well as autism-related professionals and researchers. A four-phase Delphi study consultation with 27 panel members resulted in agreement on three categories for which evidence is required: reliability, engagement and effectiveness of the technology. Consensus was also reached on four key sources of evidence for these three categor…
Did you hear? Auditory prospective memory cues are more beneficial for autistic than for non-autistic children and adolescents
2021
Item does not contain fulltext Background: The transition from primary to secondary school is particularly difficult for autistic children, a transition underpinned by an increase in prospective memory (PM) demands. Aims: To better understand PM in autistic children of the relevant age range and its underlying processes, the current study investigated the impact of cue salience (distinctiveness) on PM in autistic and non-autistic children and adolescents. The study was unique in manipulating the visual and auditory salience of PM cues. Salient cues are assumed to put lower demands on executive control resources as compared to cues that blend in with the ongoing activity. Methods and procedu…
An Autistic Endophenotype and Testosterone Are Involved in an Atypical Decline in Selective Attention and Visuospatial Processing in Middle-Aged Women
2015
Mothers of offspring with autism spectrum disorders (ASD) could present mild forms of their children’s cognitive characteristics, resulting from prenatal brain exposure and sensitivity to testosterone (T). Indeed, their cognition is frequently characterized by hyper-systemizing, outperforming in tests that assess cognitive domains such as selective attention, and fine motor and visuospatial skills. In the general population, all these start to decline around the mid-forties. This study aimed to characterize whether middle-aged women who are biological mothers of individuals with ASD had better performance in the aforementioned cognitive skills than mothers of normative children (in both gro…
Neural-level associations of non-verbal pragmatic comprehension in young Finnish autistic adults
2021
This video-based study examines the pragmatic non-verbal comprehension skills and corresponding neural-level findings in young Finnish autistic adults, and controls. Items from the Assessment Battery of Communication (ABaCo) were chosen to evaluate the comprehension of non-verbal communication. Inter-subject correlation (ISC) analysis of the functional magnetic resonance imaging data was used to reveal the synchrony of brain activation across participants during the viewing of pragmatically complex scenes of ABaCo videos. The results showed a significant difference between the ISC maps of the autistic and control groups in tasks involving the comprehension of non-verbal communication, there…
Fragile-X carrier females: evidence for a distinct psychopathological phenotype?
1996
The present study examined 35 mothers (29 premutation carriers) of children with fragile-X syndrome in measures of intelligence and psychiatric disorders by comparing them with two control groups: a) 30 mothers of children in the general population and b) 17 mothers of non-fra-X retarded children with autism. Premutation carriers had a higher frequency of affective disorders than mothers from the general population. Preliminary data indicate that normally intelligent premutation carriers of the fra-X genetic abnormality have a similar frequency of affective disorders (DSM-III-R criteria [APA, 1987]) than mothers of autistic children. Neither carriers of the premutation nor carriers of the f…
Genetic and environmental contributions to the inverse association between specific autistic traits and experience seeking in adults
2015
Autistic traits are characterized by social and communication problems, restricted, repetitive and stereotyped patterns of behavior, interests and activities. The relation between autistic traits and personality characteristics is largely unknown. This study focused on the relation between five specific autistic traits measured with the abridged version of the Autism Spectrum Quotient ("social problems," "preference for routine," "attentional switching difficulties," "imagination impairments," "fascination for numbers and patterns") and Experience Seeking (ES) in a general population sample of adults, and subsequently investigated the genetic and environmental etiology between these traits.…