Familiality of Quantitative Autism Traits

Autistic traits exist along a continuum that extends into social functioning in the general population, and they aggregate in the family members of children with autism spectrum disorder (ASD). Quantitative measures are therefore essential when investigating the patterns of familiality of these traits. Prior studies have suggested differential inheritance patterns of autistic traits that depend on the cognitive level of the child with ASD as well as the family type.Our goal was to examine the family patterns of quantitative autism traits (QAT) in a group of simplex autism families of high-functioning children with ASD.We used the Social Responsiveness Scale (SRS) to evaluate QAT in 47 ASD families and 46 control families. SRS assessments (parental/spousal evaluations) were collected for the children with ASD, their siblings, and their parents as well as for the control children and their parents.The SRS was able to distinguish individuals with ASD from the control children and from their unaffected siblings. Significant group differences were also found when comparing the fathers of ASD families to control fathers and when comparing the brothers of individuals with ASD to control boys, with male members of ASD families having higher SRS scores. Gender differences were observed in the group of siblings of children with ASD and the group of parents of children with ASD, with males having higher scores than females. In ASD families, a positive trend between child and father QAT was found, whereas mothers' scores were not associated with child outcomes. By contrast, in control families, mothers' QAT correlated more strongly with child QAT.Autistic traits aggregate in the fathers and brothers of children with ASD in simplex autism families. The QAT levels of the family members should be taken into consideration when planning the rehabilitation of the child or adolescent with ASD and when designing family interventions

Resting state fMRI reveals a default mode dissociation between retrosplenial and medial prefrontal subnetworks in ASD despite motion scrubbing

In resting state functional magnetic resonance imaging (fMRI) studies of autism spectrum disorders (ASDs) decreased frontal-posterior functional connectivity is a persistent finding. However, the picture of the default mode network (DMN) hypoconnectivity remains incomplete. In addition, the functional connectivity analyses have been shown to be susceptible even to subtle motion. DMN hypoconnectivity in ASD has been specifically called for re-evaluation with stringent motion correction, which we aimed to conduct by so-called scrubbing. A rich set of default mode subnetworks can be obtained with high dimensional group independent component analysis (ICA) which can potentially provide more detailed view of the connectivity alterations. We compared the DMN connectivity in high-functioning adolescents with ASDs to typically developing controls using ICA dual-regression with decompositions from typical to high dimensionality. Dual-regression analysis within DMN subnetworks did not reveal alterations but connectivity between anterior and posterior DMN subnetworks was decreased in ASD. The results were very similar with and without motion scrubbing thus indicating the efficacy of the conventional motion correction methods combined with ICA dual-regression. Specific dissociation between DMN subnetworks was revealed on high ICA dimensionality, where networks centered at the medial prefrontal cortex and retrosplenial cortex showed weakened coupling in adolescents with ASDs compared to typically developing control participants. Generally the results speak for disruption in the anterior-posterior DMN interplay on the network level whereas local functional connectivity in DMN seems relatively unaltered

Social anxiety and emotion recognition in autism spectrum disorders

Abstract The primary aim of the current study was to examine social anxiety symptoms in high-functioning children and adolescents, ages eight to 17 years old with autism (HFA) or Asperger syndrome (AS). The second aim was to study emotion recognition skills in children and adolescents with HFA/AS. In addition, two internationally used social anxiety questionnaires (The Social Phobia and Anxiety Inventory for Children and; The Social Anxiety Scale for Children -revised) were translated into Finnish, and psychometric analyses were performed in order assess the research and clinical utility of these measures as novel tools for the study of child social anxiety in Finland. Results suggest that adolescents, in particular, with HFA/AS experience a greater number of social anxiety symptoms and have increased rates of clinically relevant social anxiety disorder (SAD) than do their control counterparts. Parents reported higher levels of anxiety symptoms in their children with HFA/AS regardless of the child’s age; however, individuals with HFA/AS self-reported anxiety symptoms increased later in their development (i.e., adolescence). In addition, overall facial emotion recognition increased with age in the HFA/AS group. Despite this, the HFA/AS group did not reach the higher ability level attained by the typically developing adolescents regardless of age. Specifically, when the facial emotion expressed a combination of both surprise and fear, participants with HFA/AS labelled the facial expression as “fear” statistically significantly more often than did controls. Moreover, control participants interpreted faces which blended sadness and neutral emotions as neutral more often than HFA/AS participants. Results suggest that social anxiety is clinically important to assess in children and adolescents with HFA/AS. Clinical interventions which enhance emotion recognition skills and reduce social anxiety symptoms in individuals with HFA/AS may be warranted.Tiivistelmä Tutkimuksen päätarkoituksena oli selvittää sosiaalista ahdistuneisuutta 8–17-vuotiailla hyvätasoisilla lapsilla ja nuorilla, joilla on autismi (HFA) tai Aspergerin oireyhtymä (AS). Tutkimuksen toinen tarkoitus oli selvittää, miten HFA- ja AS-lapset ja nuoret kykenevät tunnistamaan tunteita kasvonilmeistä. Tutkimus arvioi myös kahden kansainvälisesti tunnetun, sosiaalista ahdistuneisuutta mittaavan kyselylomakkeen (The Social Phobia and Anxiety Inventory for Children ja The Social Anxiety Scale for Children -revised) toimivuutta suomalaisessa väestössä. Tavoitteena oli antaa uusia työvälineitä suomalaiselle lastenpsykiatrialle tutkimus- ja kliiniseen työhön. Tutkimustulokset osoittivat HFA- ja AS-nuorten kokevan muita nuoria useammin sosiaalista ahdistuneisuutta. Vanhemmat havaitsevat HFA- ja AS-lastensa sosiaalisen ahdistuneisuuden oireet lapsen iästä riippumatta, kun lapset itse kertoivat oireistaan vasta nuoruusiässä. Tutkimus osoitti myös, että HFA:ta tai AS:ää sairastavien kyky tunnistaa tunteita paranee iän myötä. Se ei kuitenkaan saavuta tavalliseen tapaan kehittyvien lasten taitotasoa nuoruusikään mennessä. HFA- ja AS-lapset ja nuoret tulkitsevat ikätovereitaan useammin kasvojen ilmeen peloksi silloin, kun kasvojenilme on sekoitus pelko-yllättyneisyyttä. Tavalliseen tapaan kehittyneet lapset ja nuoret tulkitsevat kasvojenilmeen useammin neutraaliksi kuin HFA tai AS diagnoosin saaneet, jos kasvojenilme on sekoitus surullinen-neutraalia. Tutkimustulosten perusteella tulee HFA:ta tai AS:ää sairastavia lapsia ja nuoria hoidettaessa ottaa huomioon sosiaalinen ahdistuneisuus. Heille tulisi nykyistä useammin tarjota tilaisuus myös kuntouttaa kykyä tunnistaa toisten ihmisten tunteita

Assessing social-pragmatic inferencing skills in children with autism spectrum disorder

Abstract By utilizing the Pragma test this study investigated how sixteen five- to ten-year-old children with autism spectrum disorder (ASD) and sixteen typically developing (TD) children comprehended contextually challenging scenarios demanding 1) contextual inference with theory of mind (ToM), 2) contextual inference without ToM, 3) relevant use of language, 4) recognition of feelings, and 5) understanding false beliefs. The study also compared children’s ability to explain their own correct answers. In addition, this study evaluated the sensitivity of three different methods for discriminating the children with ASD from the TD children: 1) the Pragma test, 2) the Social Interaction Deviance Composite (SIDC) of Children’s Communication Checklist-2 (CCC-2), and 3) the Theory of Mind subtest of the Developmental Neuropsychological Assessment, Second edition (NEPSY-II). The results showed that children with ASD differed from TD children in questions demanding context utilization. However, the demand of mind-reading in utterance interpretation increased the difference between groups. Compared to TD children, children with ASD had more difficulties in explaining how they had used context to arrive at the correct answer. The discrimination power for detecting children with ASD from TD children was excellent in the Pragma test, good in the SIDC CCC-2 and fair in the Theory of Mind subtest of NEPSY-II. This study showed that by using contextually sensitive materials, such as the Pragma test, it is possible to detect the social-pragmatic inferencing difficulties of high-functioning children with ASD in structured test situations and not only in real-life situations or by using parental reports

Neuropsychological performance of Egyptian children with autism spectrum disorder and attention deficit hyperactivity disorder

Abstract This study examined the neuropsychological functioning in autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), and comorbid ASD and ADHD (ASD + ADHD), using five domains of the Developmental Neuropsychological Assessment (NEPSY): Attention and Executive Functions, Language, Visuospatial Processing, Sensorimotor Functions, and Memory and Learning. The participants were 6- to 12-year-old Egyptian children with ASD (n = 17), ASD + ADHD (n = 15), ADHD (n = 37), and typical development (TD; n = 29). TD children scored highest on the NEPSY domains, then children with ADHD, followed by children with ASD and ASD + ADHD. Children with ASD or ASD + ADHD performed significantly poorer than TD children on all NEPSY domains. Children with ADHD exhibited significantly poorer performance than TD children on NEPSY domains of Attention and Executive Function, Language, and Memory and Learning. Also, both ASD and ASD + ADHD groups scored significantly lower than ADHD group on all other NEPSY domains except Visuospatial Processing. There were no significant differences between ASD and ASD + ADHD groups on NEPSY. Compared to TD children, our results suggest that ADHD symptoms in children with ASD may worsen the ability to plan, hand motor coordination, and memorizing names. Nevertheless, the presence of ADHD symptoms may mitigate the difficulties that children with ASD exhibit in other neuropsychological areas, such as verbal fluency, hand praxis, finger gnosis, and face memory

Emotion recognition from the eye region in children with and without autism spectrum disorder in Arab and Scandinavian countries

Abstract Background: Difficulties in facial emotion recognition (ER) skills are linked to autism spectrum disorder (ASD) in studies performed in Western and Eastern Asian countries. However, there is a paucity of research examining ER skills in Arab countries, where face-covering veils are more common than in Western countries. Objective: Our aim was to examine basic ER and ER error patterns in Egyptian and Finnish children with and without ASD. Method: We employed the eye-submodule of the Frankfurt Test and Training of Facial Affect Recognition (FEFA) and the Autism Spectrum Screening Questionnaire (ASSQ). Results: Arab children with ASD (n = 34, M age = 8.6 years, FSIQ = 96.7) recognized correctly fewer emotions than did Scandinavian children with ASD (n = 32, M age = 12.5 years, FSIQ = 102.8) and Arab typically developing (TD) children (n = 34, M age = 10.3 years, FSIQ = 123.4) in general and specifically on surprise, disgust and neutral scales as well as on a blended emotion scale. Scandinavian children with ASD demonstrated a lower ability to recognize emotions in general and specifically happiness than did Scandinavian TD children. There were no differences between Arab and Scandinavian (n = 28, M age = 13.9 years) TD children in ER accuracy. We found country specific differences in ER error patterns in happiness, sadness and anger: Arab children interpreted these emotions more often as another emotion (happiness = sadness, sadness = anger, anger = sadness and surprise), whereas Scandinavian children interpreted happiness and sadness as neutral expression and anger as disgust. Arab children with ASD labeled sadness and anger in their ER error patterns more negatively than did Arab TD children, but there were no differences between Scandinavian children with ASD and TD in ER error patterns. Conclusions: The differences between the Arab and Scandinavian children may reflect cultural differences in ER and ER error patterns

Attention and Working Memory in Adolescents with Autism Spectrum Disorder : A Functional MRI Study

The present study examined attention and memory load-dependent differences in the brain activation and deactivation patterns between adolescents with autism spectrum disorders (ASDs) and typically developing (TD) controls using functional magnetic resonance imaging. Attentional (0-back) and working memory (WM; 2-back) processing and load differences (0 vs. 2-back) were analysed. WM-related areas activated and default mode network deactivated normally in ASDs as a function of task load. ASDs performed the attentional 0-back task similarly to TD controls but showed increased deactivation in cerebellum and right temporal cortical areas and weaker activation in other cerebellar areas. Increasing task load resulted in multiple responses in ASDs compared to TD and in inadequate modulation of brain activity in right insula, primary somatosensory, motor and auditory cortices. The changes during attentional task may reflect compensatory mechanisms enabling normal behavioral performance. The inadequate memory load-dependent modulation of activity suggests diminished compensatory potential in ASD.Peer reviewe

Co-activation pattern alterations in autism spectrum disorder:a volume-wise hierarchical clustering fMRI study

Abstract Introduction: There has been a growing effort to characterize the time-varying functional connectivity of resting state (RS) fMRI brain networks (RSNs). Although voxel-wise connectivity studies have examined different sliding window lengths, nonsequential volume-wise approaches have been less common. Methods: Inspired by earlier co-activation pattern (CAP) studies, we applied hierarchical clustering (HC) to classify the image volumes of the RS-fMRI data on 28 adolescents with autism spectrum disorder (ASD) and their 27 typically developing (TD) controls. We compared the distribution of the ASD and TD groups‘ volumes in CAPs as well as their voxel-wise means. For simplification purposes, we conducted a group independent component analysis to extract 14 major RSNs. The RSNs' average z-scores enabled us to meaningfully regroup the RSNs and estimate the percentage of voxels within each RSN for which there was a significant group difference. These results were jointly interpreted to find global group-specific patterns. Results: We found similar brain state proportions in 58 CAPs (clustering interval from 2 to 30). However, in many CAPs, the voxel-wise means differed significantly within a matrix of 14 RSNs. The rest-activated default mode-positive and default mode-negative brain state properties vary considerably in both groups over time. This division was seen clearly when the volumes were partitioned into two CAPs and then further examined along the HC dendrogram of the diversifying brain CAPs. The ASD group network activations followed a more heterogeneous distribution and some networks maintained higher baselines; throughout the brain deactivation state, the ASD participants had reduced deactivation in 12/14 networks. During default mode-negative CAPs, the ASD group showed simultaneous visual network and either dorsal attention or default mode network overactivation. Conclusion: Nonsequential volume gathering into CAPs and the comparison of voxel-wise signal changes provide a complementary perspective to connectivity and an alternative to sliding window analysis