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Introduction: Autism Spectrum Disorder (ASD) is a lifelong hereditary neurodevelopmental disorder characterised by a lack of social communication and restricted and repetitive behaviours. The Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5) classified symptoms of autism into two domains: the social communication and interaction domain. However, studies on autism in Saudi Arabia are still insufficient. Therefore, awareness and knowledge about autism can facilitate early detection and treatment, resulting in better outcomes. Aim: To evaluate parents’ knowledge, awareness, and attitude towards their autistic children in a tertiary care hospital in Saudi Arabia. Materials and Methods: This hospital-based cross-sectional study was conducted at Baljurashi Mental Health Hospital, AL-Baha region, Saudi Arabia, from January 2023 to November 2023. A total of 69 parents with autistic children who attended the outpatient clinic at Baljurashi Mental Health Hospital were included in the study. A questionnaire was administered among parents to assess their knowledge, awareness, and attitude regarding autism. Data was statistically analysed using descriptive statistics and the Chi-square test. Results: The age of the parents ranged from 16 to over 50 years, with 47 (68.1%) being males and 22 (31.9%) being females. Almost 29 (42.0%) of the parents were postgraduates, and 21 (30.4%) had a university-level education. About 24 (34.8%) of the participants believed that consanguineous marriage increases the risk of autism, 19 (27.5%) believed that some vaccines increase the risk of autism, and 39 (56.5%) knew that autism is associated with learning disabilities. Three-quarters of the participants, 54 (78.3%), stated that autism was known to them, 50 (72.5%) thought that an autistic child could be affected by a normal child, and 53 (76.8%) had good knowledge about autism. Conclusion: The study showed that the majority of parents had good knowledge about autism disorder. The findings reflect the positive impact of focused training initiatives and public awareness efforts aimed at improving parents’ knowledge, awareness, and attitude toward autism.

Echolalia, a language phenomenon whereby individuals imitate the speech of others, is commonly used by children and adults with autism. Research into the underlying nature and meanings associated with this repetitive behaviour is characterised by a lack of conceptual definitions and conflicting opinions about the functions of echolalia. A scoping review was undertaken to summarise the range of perspectives on these topics and identify associated research gaps. Five databases were searched, and 28 studies met the eligibility criteria. Results showed clear groupings in the topics discussed, based around interactional intent, factors that affect the frequency and type of echolalia, language development, measurement, and functions of echolalia. The review revealed that echolalia has a number of functions for people with autism, however many interventions continue to focus on reduction or elimination of echolalia. Findings suggest that further research is required to examine possible functions of echolalia. Confirming the function of this behaviour for people with autism is likely to have direct consequences for the type of intervention deemed appropriate. [ABSTRACT FROM AUTHOR]

Introduction: Autism Spectrum Disorder (ASD) is a lifelong hereditary neurodevelopmental disorder characterised by a lack of social communication and restricted and repetitive behaviours. The Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5) classified symptoms of autism into two domains: the social communication and interaction domain. However, studies on autism in Saudi Arabia are still insufficient. Therefore, awareness and knowledge about autism can facilitate early detection and treatment, resulting in better outcomes. Aim: To evaluate parents’ knowledge, awareness, and attitude towards their autistic children in a tertiary care hospital in Saudi Arabia. Materials and Methods: This hospital-based cross-sectional study was conducted at Baljurashi Mental Health Hospital, ALBaha region, Saudi Arabia, from January 2023 to November 2023. A total of 69 parents with autistic children who attended the outpatient clinic at Baljurashi Mental Health Hospital were included in the study. A questionnaire was administered among parents to assess their knowledge, awareness, and attitude regarding autism. Data was statistically analysed using descriptive statistics and the Chi-square test. Results: The age of the parents ranged from 16 to over 50 years, with 47 (68.1%) being males and 22 (31.9%) being females. Almost 29 (42.0%) of the parents were postgraduates, and 21 (30.4%) had a university-level education. About 24 (34.8%) of the participants believed that consanguineous marriage increases the risk of autism, 19 (27.5%) believed that some vaccines increase the risk of autism, and 39 (56.5%) knew that autism is associated with learning disabilities. Three-quarters of the participants, 54 (78.3%), stated that autism was known to them, 50 (72.5%) thought that an autistic child could be affected by a normal child, and 53 (76.8%) had good knowledge about autism. Conclusion: The study showed that the majority of parents had good knowledge about autism disorder. The findings reflect the positive impact of focused training initiatives and public awareness efforts aimed at improving parents’ knowledge, awareness, and attitude toward autism. [ABSTRACT FROM AUTHOR]

Abstract Background SATB2-associated syndrome (SAS) is a multisystem neurodevelopmental disorder characterised by intellectual disability, speech delay, and craniofacial anomalies. Although the clinical presentation of SAS is well-delineated, behaviours associated with SAS are less well-defined. Given the varied social profile reported in SAS of a ‘jovial’ predisposition and autistic behaviours, there may be phenotypic overlap with both Angelman syndrome (AS) and non-syndromal autism. This study aimed to describe behaviours in SAS in relation to chronological age and level of ability and contrast aspects of the behavioural phenotype with AS and non-syndromal autism. Methods Informant report questionnaire measures of behaviour, emotion, and autism characteristics were completed for 81 individuals with SAS (aged 1–36 years; 43 male). Within-group associations were analysed, and categorical data were compared between pre-school (1–5 years), school-age (6–15 years), and adolescent and adult SAS sub-groups (16 years and over). Cross-syndrome subscale and item-level analyses were conducted for 63 individuals with SAS (aged 1–27 years; 31 male), who were matched according to age and level of ability to 63 individuals with AS (aged 2–25 years; 32 male) and 63 individuals with non-syndromal autism (aged 3–26 years; 53 male). Results In SAS, higher rates of overactivity were moderately associated with lower self-help ability, and higher general anxiety scores were reported for males compared with females. Cross-syndrome subscale analyses uncovered several significant differences (p < .01), with comparatively low rates of stereotyped behaviour, overactivity, insistence on sameness and positive affect, and comparatively greater interest and pleasure and compulsive behaviour in individuals with SAS. Item-level analyses revealed a distinct profile of repetitive and autistic behaviours. Limitations Developmental analysis was based on a cross-sectional rather than a longitudinal research design, the contribution of pain and sleep to behaviour was not explored, and molecular genetic testing to determine genotype–phenotype behavioural relationships was not possible. Conclusions This study highlights the importance of behavioural comparisons to well-delineated groups and the utility of fine-grained item-level analyses to elucidate aspects of behaviour that might be syndrome related or shared across neurodevelopmental disorders. Future research is needed to further describe the distinctive repetitive and autistic behavioural phenotype in SAS.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterised by difficulties in communication and repetitive behaviors. The early detection of ASD is a clinical priority in education centres and medical services. COREAT is a computer adaptation of the Repetitive Behavior Scale-Revised (RBS-R) which has been designed to facilitate the diagnosis of individuals with ASD and intellectual disability. This article describes the development, an initial evaluation of the feasibility and the preliminary outcomes of COREAT. The development of COREAT consists of two phases. Phase 1: Performing a prior analysis of the psychometric properties of the RBS-R scale. Phase 2: Developing the mobile application (pilot tests, testing real cases n = 11, and final feedback). Descriptive data of the pilot study shows that 91.31% of participants indicate that COREAT is very accessible and intuitive. COREAT proves to be a useful diagnostic resource for professionals and families. Cross-cultural differences must be analysed. [ABSTRACT FROM AUTHOR]

Background: SATB2-associated syndrome (SAS) is a multisystem neurodevelopmental disorder characterised by intellectual disability, speech delay, and craniofacial anomalies. Although the clinical presentation of SAS is well-delineated, behaviours associated with SAS are less well-defined. Given the varied social profile reported in SAS of a 'jovial' predisposition and autistic behaviours, there may be phenotypic overlap with both Angelman syndrome (AS) and non-syndromal autism. This study aimed to describe behaviours in SAS in relation to chronological age and level of ability and contrast aspects of the behavioural phenotype with AS and non-syndromal autism. Methods: Informant report questionnaire measures of behaviour, emotion, and autism characteristics were completed for 81 individuals with SAS (aged 1–36 years; 43 male). Within-group associations were analysed, and categorical data were compared between pre-school (1–5 years), school-age (6–15 years), and adolescent and adult SAS sub-groups (16 years and over). Cross-syndrome subscale and item-level analyses were conducted for 63 individuals with SAS (aged 1–27 years; 31 male), who were matched according to age and level of ability to 63 individuals with AS (aged 2–25 years; 32 male) and 63 individuals with non-syndromal autism (aged 3–26 years; 53 male). Results: In SAS, higher rates of overactivity were moderately associated with lower self-help ability, and higher general anxiety scores were reported for males compared with females. Cross-syndrome subscale analyses uncovered several significant differences (p <.01), with comparatively low rates of stereotyped behaviour, overactivity, insistence on sameness and positive affect, and comparatively greater interest and pleasure and compulsive behaviour in individuals with SAS. Item-level analyses revealed a distinct profile of repetitive and autistic behaviours. Limitations: Developmental analysis was based on a cross-sectional rather than a longitudinal research design, the contribution of pain and sleep to behaviour was not explored, and molecular genetic testing to determine genotype–phenotype behavioural relationships was not possible. Conclusions: This study highlights the importance of behavioural comparisons to well-delineated groups and the utility of fine-grained item-level analyses to elucidate aspects of behaviour that might be syndrome related or shared across neurodevelopmental disorders. Future research is needed to further describe the distinctive repetitive and autistic behavioural phenotype in SAS. [ABSTRACT FROM AUTHOR]

Introduction: Restricted and repetitive behaviours (RRB) are actions or interests demonstrated in the form of repetitive motor movement that interferes with one's daily performance. Repetitive Behavior Scale-Revised (RBS-R) is a self-report questionnaire designed to assess the variety and severity of RRB in people with Autism Spectrum Disorder (ASD) comprehensively. The purpose of the current study was to investigate the validity and reliability of the Malay version of RBS-R questionnaire. Methods: The cross-cultural adaptation of the RBS-R was performed following established guidelines. The questionnaire was assessed its content and face validity before it was administered to 34 parents or caregivers of children with ASD to determine the internal consistency reliability. Content validity index, face validity index and Cronbach's alpha were calculated. Results: The Malay version of RBS-R showed the scale-level content validity with an average index (S-CVI/Ave) of 0.97 and a universal agreement index (S-CVI/UA) of 0.84. Meanwhile, scale-level face validity with an average index (S-FVI/Ave) of 0.97 and a universal agreement index (S-FVI/UA) of 0.90 were derived, indicating that the Malay version of RBS-R questionnaire was relevant, clear and comprehensible. All subdomains showed the Cronbach's alpha coefficient of over 0.7, ranging from 0.758 to 0.914 indicating it was a reliable tool. Conclusion: This study showed good level of content validity index, face validity index and internal consistency reliability of the questionnaire. These study findings indicated the practicality of the Malay version of RBS-R to assess RRB in children with ASD. Further research on construct validity is recommended. [ABSTRACT FROM AUTHOR]

Stereotyped and repetitive behaviours are characteristics of autism spectrum disorder (ASD) but also occur in individuals with combined intellectual and sensory disabilities. This article looked at the differences in type, frequency, and duration of stereotyped behaviours between individuals with and without ASD in this population. The study included 59 individuals with intellectual disabilities and sensory impairments. The presence of ASD was assessed using Observation of Autism in people with Sensory and Intellectual Disabilities (OASID). Separate from these assessments, video recordings were scored by observers naive to the ASD status of participants for stereotyped and repetitive behaviours. Stereotyped and repetitive behaviours were more prevalent in participants with ASD, though a large proportion of participants without ASD showed them too. Participants with ASD showed, on average, more frequent and in duration longer stereotyped and repetitive behaviours, especially self-injurious behaviours. No differences were found for vocal, motoric, and stereotyped behaviours with objects. The mean duration of each episode of stereotyped behaviour did not differ between groups. Cluster analysis revealed a distinct group of individuals without ASD who showed a high number of stereotyped behaviours. [ABSTRACT FROM AUTHOR]

Abstract Background Potocki-Lupski syndrome (PTLS) and Smith-Magenis syndrome (SMS) are related genomic disorders, as duplication 17p11.2 (associated with PTLS) is the reciprocal recombination product of the SMS microdeletion. While SMS has a relatively well-delineated behavioural phenotype, the behavioural profile in PTLS is less well defined, despite purported associations with autism spectrum disorder (ASD) and the suggestion that some behaviours may be diametric to those seen in SMS. Methods Caregivers of individuals with PTLS (N = 34; M age = 12.43, SD = 6.78) completed online behavioural questionnaires, including the Challenging Behaviour Questionnaire (CBQ), the Activity Questionnaire (TAQ), the Repetitive Behaviour Questionnaire (RBQ), the Mood, Interest and Pleasure Questionnaire-Short Form (MIPQ-S) and the Social Communication Questionnaire (SCQ), which assesses behaviours associated with ASD. Individuals with PTLS were matched on age and adaptive functioning to individuals with SMS (N = 31; M age = 13.61, SD = 6.85) and individuals with idiopathic ASD (N = 33; M age = 12.04, SD = 5.85) from an existing dataset. Results Individuals with PTLS and SMS were less impaired than those with idiopathic ASD on the communication and reciprocal social interaction subscales of the SCQ, but neither syndrome group differed from idiopathic ASD on the restricted, repetitive and stereotyped behaviours subscale. On the repetitive behaviour measure, individuals with PTLS and idiopathic ASD scored higher than individuals with SMS on the compulsive behaviour subscale. Rates of self-injury and property destruction were significantly lower in PTLS and idiopathic ASD than in SMS. No between-syndrome differences were found in relation to overactivity or mood; however, impulsivity was greater in SMS than in PTLS. Conclusions Findings suggest some overlap in the behavioural phenotype of PTLS and features of ASD symptomatology; however, the overall profile of behaviours in PTLS appears to be divergent from both idiopathic ASD and SMS. Relative to idiopathic ASD, PTLS is not characterised by communication or social interaction deficits. However, restricted and repetitive behaviours were evident in PTLS, and these may be characterised specifically by compulsive behaviours. While several behavioural differences were identified between PTLS and SMS, there was little evidence of diametric behavioural phenotypes, particularly in relation to social behaviour.

Abstract Background The limited behavioural phenotype literature on Phelan–McDermid syndrome (PMS) indicates atypically high levels of activity, impulsivity and autism spectrum disorder (ASD) behaviours. Divergent profiles of ASD in PMS are also reported, with some studies demonstrating similarities to idiopathic ASD and others indicating an uneven profile of social and communication impairments and repetitive behaviours. An evaluation of the behavioural phenotype of PMS and the prevalence and phenomenology of ASD is warranted, particularly given the causal involvement of the SHANK3 gene in the aetiology of PMS. Methods Carers of individuals with PMS (N = 30; mean age = 10.55, SD = 7.08) completed questionnaires relating to impulsivity, overactivity, mood, interest and pleasure, repetitive behaviour and ASD phenomenology. These data were compared to data from matched samples of individuals with fragile X and Down syndromes and idiopathic ASD. In order to evaluate the profile of ASD phenomenology in PMS, two comparisons were made: first, including the total sample with PMS, and second, including only those who met the threshold indicative of autism on an ASD screening measure. Results The results revealed lower mood in individuals with PMS, but no differences in impulsivity and overactivity. Compulsive and routine-driven repetitive behaviours were less common in the total sample with PMS; however, motor-based stereotyped behaviours were more common. ASD phenomenology was highly prevalent, with 87% of the sample meeting the cutoff score for ASD and 57% meeting the cutoff for autism. The profile of ASD phenomenology in the total sample with PMS differed from those with idiopathic ASD across impairments in communication and social interaction and repetitive behaviour. However, the profile of those who met the threshold for autism was commensurate to those with idiopathic ASD. Conclusions ASD phenomenology is common within PMS. Whilst the total sample may display an atypical profile of ASD behaviour, the profile in those who met the threshold for autism was very similar to those with idiopathic ASD. These results are discussed in relation to the wider behavioural phenotype and the emerging evidence of an autism endophenotype in PMS.

Background: Children with autism spectrum disorder (ASD) experience set‐shifting deficit as a part of executive function, which can lead to cognitive and behavioural flexibility deficits and/or restricted behaviours. Despite the increasing body of research on this cognitive deficit, set‐shifting training has not been exclusively studied in ASD. Aims: In this study, a training condition [set‐shifting improvement tasks (SSIT)] was developed to improve set‐shifting ability; afterwards, the possible effects of these tasks were investigated. Methods and Procedures: With the aim of improving set‐shifting ability in children with autism, a training program (SSIT), involving a computer game (Tatka, a puzzle game produced by our research team) with some home‐based tasks (for generalisation purposes), was developed. Then, in a quasi‐experimental design, the effects of SSIT tasks were studied on children (n = 13, 5–7 years old) with high‐functioning autism. Outcome measures (pre‐training, post‐training and a 6‐week follow‐up) were assessed using Modified Wisconsin Card Sorting Test, Bender‐Gestalt Test and Behavioural Flexibility Rating Scale. Results and Outcomes: A significant change was observed in both cognitive (Bender Gestalt, ηp2=0.84; WCST; =p20.87) and behavioural flexibilities (ηp2=0.79) and also in repetitive behaviours (ηp2=0.45). Furthermore, the result remained stable to some extent for about 1 month after the training condition. Conclusions and Implications: Developing the SSIT is just an initial step in the major target of creating cognitive rehabilitation tools to be used by clinicians and parents for children diagnosed with ASD and should be understood as a supplement, rather than an alternative, to the main treatments such as applied behaviour analysis. Future research with larger samples are needed to confirm whether this intervention is effective for children with ASD. [ABSTRACT FROM AUTHOR]

'Stereotyped or repetitive motor movements' are characterised as core features in the diagnosis of autism, yet many autistic adults (and the neurodiversity movement) have reclaimed them as 'stimming'. Supported by a growing body of scientific research, autistic adults argue that these behaviours may serve as useful coping mechanisms, yet little research has examined stimming from the perspective of autistic adults. Through interviews and focus groups, we asked 32 autistic adults to share their perceptions and experiences of stimming, including the reasons they stim, any value doing so may hold for them and their perceptions of others' reactions to stimming. Using thematic analysis, we identified two themes: stimming as (1) a self-regulatory mechanism and (2) lacking in social acceptance, but can become accepted through understanding. Autistic adults highlighted the importance of stimming as an adaptive mechanism that helps them to soothe or communicate intense emotions or thoughts and thus objected to treatment that aims to eliminate the behaviour. [ABSTRACT FROM AUTHOR]

Background: Autism spectrum disorder (ASD) and obsessive–compulsive disorder (OCD) are neurodevelopmental disorders with considerable overlap in terms of their defining symptoms of compulsivity/repetitive behaviour. Little is known about the extent to which ASD and OCD have common versus distinct neural correlates of compulsivity. Previous research points to potentially common dysfunction in frontostriatal connectivity, but direct comparisons in one study are lacking. Here, we assessed frontostriatal resting-state functional connectivity in youth with ASD or OCD, and healthy controls. In addition, we applied a cross-disorder approach to examine whether repetitive behaviour across ASD and OCD has common neural substrates. Methods: A sample of 78 children and adolescents aged 8–16 years was used (ASD n = 24; OCD n = 25; healthy controls n = 29), originating from the multicentre study COMPULS. We tested whether diagnostic group, repetitive behaviour (measured with the Repetitive Behavior Scale-Revised) or their interaction was associated with resting-state functional connectivity of striatal seed regions. Results: No diagnosis-specific differences were detected. The cross-disorder analysis, on the other hand, showed that increased functional connectivity between the left nucleus accumbens (NAcc) and a cluster in the right premotor cortex/middle frontal gyrus was related to more severe symptoms of repetitive behaviour. Conclusions: We demonstrate the fruitfulness of applying a cross-disorder approach to investigate the neural underpinnings of compulsivity/repetitive behaviour, by revealing a shared alteration in functional connectivity in ASD and OCD. We argue that this alteration might reflect aberrant reward or motivational processing of the NAcc with excessive connectivity to the premotor cortex implementing learned action patterns. [ABSTRACT FROM AUTHOR]

Purpose: Previous research has identified termination of interruptions to repetitive behaviour as a reinforcer capable of maintaining problem behaviour. Effective treatments have included functional communication training and multiple schedules of reinforcement. Methods: In the present study, a functional analysis determined that the aggression of an eight-year-old boy with autism spectrum disorder was maintained by termination of interruptions of repetitive behaviour. An intervention was implemented consisting of differential reinforcement of other behaviour and response cost. Results: The intervention produced and maintained a reduction in aggression and increased tolerance for interruptions of systematically increasing durations. Conclusions: This case study demonstrates an alternative approach to the treatment of problem behaviours such as aggression maintained by termination of repetitive behaviour that includes teaching the individual to tolerate interruption of repetitive behavior. [ABSTRACT FROM AUTHOR]

Many world-renowned scientists and artists had autism spectrum disorder (ASD). We suggest that the French mathematician and physicist Blaise Pascal (1623-1662) also had ASD. As a boy, he demonstrated his mastery of language, mathematics and science. He showed single-mindedness and obsessive interests in the pursuit of science in his younger years and later he pursued with religion with the same determination. Pascal neglected social interactions; he was cold and aloof and had an obsessive revulsion to any expression of emotional attachment. As shown by his funerary mask and the autopsy report Pascal had craniosynostosis (primary nonsyndromic oxycephaly) with atrophy of the right half of the face. Congenital facial asymmetry due to craniosynostosis has a genetic basis. This suggests that Pascal's facial deformity may betray his propensity to suffer from genetically determined diseases including ASD. Despite the intrinsic limitations of a diagnosis based only on biographical information, we surmise that Pascal had the three key symptoms (obsessive interests, difficulty in social relationship and problems in communicating) that characterize ASD individuals. [ABSTRACT FROM AUTHOR]

Abstract: Background: Hyperactivity and repetitive behaviour are characteristic features of fragile X syndrome (FXS). However, little is known about the influence of autism symptomatology on how these characteristics develop over time. We investigate the profiles and developmental trajectories of overactivity, impulsivity and repetitive behaviour, in males with FXS over three time points spanning 8 years. Method: Participants formed two subgroups, those who displayed elevated symptoms of autism at Time 1 (n = 37; Mage = 16.32; age range = 6.61–43.51) and those who did not (n = 32; Mage = 8.43; age range = 8.94–47.49). Results: Participants without elevated symptoms of autism showed a reduction in impulsivity and repetitive questioning over time, whereas those with elevated symptoms of autism did not. Differences between the two subgroups in several topographies of repetitive behaviour emerged at Time 3 only. Conclusions: These results further understanding of the relationship between autistic phenomenology and behavioural characteristics in FXS. [ABSTRACT FROM AUTHOR]

The purpose of the current study was to examine how repetitive behaviour in Autism Spectrum Disorder (ASD) is related to intrinsic functional connectivity patterns in a number of large-scale, neural networks. Resting-state fMRI scans from thirty subjects with ASD and thirty-two age-matched, typically developing control subjects were analysed. Seed-to-voxel and ROI-to-ROI functional connectivity analyses were used to examine resting-state connectivity in a number of cortical and subcortical neural networks. Bivariate correlation analysis was performed to examine the relationship between repetitive behaviour scores from the Repetitive Behaviour Scale – Revised and intrinsic functional connectivity in ASD subjects. Compared to control subjects, ASD subjects displayed marked over-connectivity of the thalamus with several cortical sensory processing areas, as well as over-connectivity of the basal ganglia with somatosensory and motor cortices. Within the ASD group, significant correlations were found between functional connectivity patterns and total RBS-R scores as well as one principal component analysis-derived score from the RBS-R. These results suggest that thalamocortical resting-state connectivity is altered in individuals with ASD, and that resting-state functional connectivity is associated with ASD symptomatology. [ABSTRACT FROM AUTHOR]

This study describes the profile of repetitive behaviour in individuals with Williams syndrome, utilising cross-syndrome comparisons with people with Prader-Willi and Down syndromes. The Repetitive Behaviour Questionnaire was administered to caregivers of adults with Williams (n = 96), Prader-Willi (n = 103) and Down (n = 78) syndromes. There were few group differences, although participants with Williams syndrome were more likely to show body stereotypies. Individuals with Williams syndrome also showed more hoarding and less tidying behaviours than those with Down syndrome. IQ and adaptive ability were negatively associated with repetitive questioning in people with Williams syndrome. The profile of repetitive behaviour amongst individuals with Williams syndrome was similar to the comparison syndromes. The cognitive mechanisms underlying these behaviours in genetic syndromes warrant further investigation. [ABSTRACT FROM AUTHOR]

The present study had two aims: first to compare levels of restricted and repetitive behaviours (RRB) across two groups of typically developing (TD) children, and two disorders: Autism Spectrum Disorder (ASD) and Down syndrome (DS), and second to explore the relationship between fear and repetitive behaviours in these four groups. Parents of 41 offspring with ASD ( Mage = 123.39 months, SDage = 27.67), 38 offspring with DS ( Mage = 125.37 months, SDage = 45.71), 45 typically developing children matched to the mental age (MA) of the DS group (TD MA; Mage = 51.13 months, SDage = 22.1), and 42 chronological age (TD CA; Mage = 117.93 months, SDage = 22.91) matched TD children, completed measures of RRB and fear. ANOVAs revealed differences across the four groups on the RRB subscale scores: 'Just Right' F(3,162) = 16.62, P < 0.001; Rigid Routines F(3,162) = 52.76, P < 0.001; Sensory behaviours F(3,162) = 23.26, P < 0.001. Post-hoc comparisons revealed that children with ASD had the highest RRB levels followed by DS, TD MA, and TD CA children. In children with ASD, higher levels of fear were related to higher RRB levels. Similar, albeit less strong, patterns of associations was found among DS and TD MA children but not in older TD CA children. This study provided evidence of a fear-RRB association in children with ASD, DS, and two groups of TD children. Autism Res 2017, 10: 502-507. © 2016 International Society for Autism Research, Wiley Periodicals, Inc. [ABSTRACT FROM AUTHOR]

Circumscribed interests (CI) in autism are highly fixated and repetitive interests, generally centering on non-social and idiosyncratic topics. The increased salience of CI objects often results in decreased social attention, thus interfering with social interactions. Behavioural, biomarker and neuroimaging research points to enhanced social functioning in autistic children in the presence of animals. For instance, neuroimaging studies report a greater activation of reward systems in the brain in response to animal stimuli whereas eye-tracking studies reveal a higher visual preference for animal faces in autistic individuals. This potentially greater social reward attached to animals, introduces the interesting and yet unexplored possibility that the presence of competing animal stimuli may reduce the disproportionately higher visual attention to CI objects. We examined this using a paired-preference eye-tracking paradigm where images of human and animal faces were paired with CI and non-CI objects. 31 children (ASD n = 16; TD n = 15) participated in the study (3391 observations). Autistic children showed a significantly greater visual attention to CI objects whereas typical controls showed a significantly greater visual attention to social images across pairings. Interestingly, pairing with a CI object significantly reduced the social attention elicited to human faces but not animal faces. Further, in pairings with CI objects, significantly greater sustained attention per visit was seen for animal faces when compared to human faces. These results thus suggest that social attention deficits in ASD may not be uniform across human and animal stimuli. Animals may comprise a potentially important stimulus category modulating visual attention in ASD. • Autistic children show a significantly greater visual attention to objects of circumscribed/high interest (CI objects). • Pairing with a CI object, significantly reduces the social attention elicited to human faces but not animal faces, in Autism. • Animals may comprise a potentially important stimulus category modulating visual attention in Autism. [ABSTRACT FROM AUTHOR]

We analysed a Zulu wedding ritual, posing two questions: (i) what makes a ritual stereotyped and rigid along with preserving certain flexibility; and (ii) does a ritual pass between generations and individuals en bloc, or as a smaller subset of acts? We found that the ritual repertoire constituted only one act that was common to all individuals that performed the ritual. Repetitive performance of this act conveyed the impression of a stereotyped ritual. This structure eases the transmission of the ritual, since it is only necessary to learn the performance of one act that can then be embedded in a sequence of 'free-style' acts. Gender difference was minimal, but young women performed more acts than adults, perhaps as a reflection of them being inexperienced actors. Altogether, the present study unveils underlying mechanisms that seem to characterize the evolution of rituals and thereby highlighting a foundation of human cultural behaviour in general. [ABSTRACT FROM AUTHOR]

Autism spectrum disorders are a group of neurodevelopmental disorders characterised by impaired social interaction, deficits in communication and repetitive stereotyped behaviours. The endocannabinoid system plays an important role in modulating emotionality and social responding, however there have been a paucity of studies investigating this system in autistic animal models. This study investigated the effect of inhibiting fatty acid amide hydrolyase (FAAH), the anandamide catabolic enzyme, on behavioural responding in the valproic acid (VPA) rat model of autism. Male rats prenatally exposed to VPA exhibit an autistic-like behavioural phenotype exemplified as thermal hypoalgesia, reduced social and exploratory behaviour, and enhanced repetitive behaviour. Systemic administration of the FAAH inhibitor PF3845 (10 mg/kg) attenuated the deficit in social behaviour observed in VPA exposed male animals without altering nociceptive, repetitive or exploratory behaviour. In comparison, female VPA exposed rats displayed enhanced repetitive and reduced exploratory behaviour, but no change in social behaviour or thermal nociceptive responding. PF3845 did not alter social, repetitive or thermal nociceptive responding, but reduced exploratory behaviour in a social context in VPA-, but not saline-, exposed females. These data indicate that FAAH inhibition elicits sexual dimorphic effects on behavioural responding in VPA exposed rodents, and support an important role for FAAH in the regulation of social behavioural deficits in autistic males. [ABSTRACT FROM AUTHOR]

Résumé Objectifs Des premières descriptions cliniques de Leo Kanner en 1943 jusqu’à celles plus actuelles formalisées dans les classifications nosographiques internationales, les comportements, intérêts et activités stéréotypés, répétitifs et restreints (nous abrégeons par phénomènes répétitifs ) ont toujours constitué un groupe de symptômes pathognomoniques de l’autisme. Depuis plusieurs années, la nature des relations entre les différentes formes de phénomènes répétitifs constitutives de ce trouble du développement fait néanmoins l’objet d’un débat animé dans la littérature. Si les recherches statistiques mettent le plus souvent l’accent sur l’hétérogénéité des différents phénomènes observés, les recherches cliniques soulignent quant à elles l’importance de la continuité des chevauchements entre les différents phénomènes répétitifs présentés par un même sujet. Nous développerons dans le présent article le concept de complexification, en tant que forme spécifique d’évolution des différents phénomènes répétitifs chez l’enfant autiste. Nous mettons en avant l’hypothèse d’une certaine homogénéité de ceux-ci. Méthode En nous appuyant sur trois années d’observation participante d’un enfant autiste dans un contexte institutionnel, nous avons répertorié les différents phénomènes répétitifs qu’il a présentés grâce à une méthodologie structurale. Une échelle de complexité a été réalisée à partir du cas. Résultats Les différents phénomènes répétitifs présentés par l’enfant durant trois ans sont structurellement homogènes en ce sens qu’ils impliquent une identité de propriétés structurales : une même matrice organise le développement et la complexification des phénomènes répétitifs. Discussion La complexification des phénomènes répétitifs est un processus qui implique que les intervenants respectent les initiatives de l’enfant autiste. Ce respect favoriserait l’élaboration d’un lien social apaisé et la mise en place d’apprentissages consentis. Conclusions L’existence de « chevauchements » entre des phénomènes répétitifs de niveaux de complexité distincts a pu être mise en évidence dans notre étude, ce qui implique une certaine homogénéité et une interdépendance entre les différents types de phénomènes répétitifs. Des recherches ultérieures sont nécessaires pour évaluer plus précisément l’incidence de cette homogénéité sur l’évolution de l’enfant autiste dans les registres du lien social et des apprentissages. Objectives Restricted and repetitive stereotyped behaviours, activities, and interests (henceforth: RRSB) have always constituted a pathognomonic group of symptoms in autism. They formed part of Leo Kanner's first clinical descriptions in 1943 and are constitutive of contemporary accounts formalized in the international nosographical classifications. Over the last few years, the nature of the relationships between the different forms of RRSB has been the object of lively debate in the literature. While statistical studies have usually highlighted the heterogeneity of the observed RRSBs, clinical studies, in contrast, have generally emphasized the extent to which different RRSBs overlap in the same individual. Here, we develop the concept of “complexification” as a specific form of evolution of the different RRSBs exhibited by the autistic child. We put forward the hypothesis that certain continuity exists between the different RRSBs. Method Based on three years of participating observation with an autistic child within an institutional context, we have categorized the different RRSBs he exhibits using a structural analysis methodology. We developed a complexity scale based on this case. Results The different RRSBs presented by the child, over the three years of the study, are structurally homogeneous in the sense that they suggest an identity of structural properties: the same matrix organises the development and complexification of these RRSBs. Discussion The complexification of RRSBs is a process that entails that the clinician respects the initiatives of the autistic child. Respect favours the elaboration of an appeased social relationship and enables consensual learning experiences. Conclusion In this study, we were able to evidence the existence of an overlap between different RRSBs of distinct levels of complexity. This suggests certain homogeneity and interdependence between the different types of RRSBs. Further research is necessary to better assess the incidence of this homogeneity on the evolution of the autistic child. [ABSTRACT FROM AUTHOR]

The genetic architecture of Autism Spectrum Disorders (ASD) is complex. Common genetic variation has especially been related to high-functioning ASD. In addition, some studies favoured analysis of strictly diagnosed autism individuals, which resulted in more robust findings than the combined analysis of all spectrum individuals. Functional variants modulating EIF4E expression have previously been indicated as risk factors for ASD. Pharmacological modulation of glutamate receptors which regulate EIF4E activity resulted in reduced repetitive behaviours in human and animal studies. Based on these findings, we tested common EIF4E variants for association with overall ASD, with strict autism and with the strict high-functioning autism (strict HFA) subgroup, and their effect on repetitive and/or stereotypic behaviour. We observed over-transmission of rs13109000G in the strict HFA and the strict autism cohort but not in the larger ASD cohort. We report protective effects for the minor allele of rs4699369T on stereotyped and ritualized behaviour in the overall ASD cohort, the strict autism but not in the strict HFA group. In addition, a protective role for rs4699369T and a risk effect of rs12498533G on hand and finger mannerisms was observed. These results need to be replicated in larger ASD and strict autism samples. The predicted impact on transcription through the ASD associated EIF4E variants rs4699369T and rs12498533G as well as the association of the EIF4E interaction partners FMRP and CYFIP1 with ASD point to an mRNA mediated pathomechanism for ASD. [ABSTRACT FROM AUTHOR]

Abstract: Repetitive behaviour is common in kennelled dogs, yet its motivational basis remains relatively unexplored. We examine the repetitive behaviour of 30 kennelled working dogs in ten contexts both coinciding with, and in the absence of, commonly occurring arousing stimuli, such as care staff, other dogs and food preparation. A large proportion (93%) of subjects performed some repetitive behaviour, most commonly bouncing, but only 17% in the absence of the arousing stimuli. Subjects could be divided into four groups according to the stimuli eliciting, and the duration, of their repetitive behaviour, and these groups were compared on the basis of their cortisol response to an acute psychogenic stressor — a veterinary examination. Urinary cortisol/creatinine response curves differed significantly between the groups. In particular, those dogs which performed repetitive behaviour at times of minimal stimulation, showed a distinctly different pattern of response, with cortisol levels decreasing, as compared to increasing, after the veterinary examination. We conclude that dogs showing repetitive behaviours at times of high arousal are motivationally distinct from those “stereotyping” in the absence of stimulation. We suggest that those dogs showing spontaneous repetitive behaviours may have past experiences and/or temperaments that affect both their reactions to a veterinary examination and to long-term kennelling. For example, some dogs may find isolation from humans particularly aversive, hence affecting their reactions both to being left in a kennel and to being taken to the veterinary surgeon. Alternatively, such dogs may have atypical responsiveness of their hypothalamic–pituitary–adrenal (HPA) axis, possibly brought about through chronic stress. High levels of repetitive behaviours in response to inaccessible husbandry events may be explained if such behaviour has inadvertently been reinforced by attention from staff, and therefore may not always be indicative of aversion to kennelling or compromised welfare. [Copyright &y& Elsevier]

Highlights: [•] Food allergy in mice reduced social behaviour, increased repetitive behaviour and impaired spatial memory. [•] Abnormalities of the serotonergic system in the intestines occurred. [•] c-Fos expression increased in obitofrontal cortex and decreased hypothalamic paraventricular nucleus. [•] Dopaminergic system was dampened in prefrontal cortex and enhanced in amygdala. [Copyright &y& Elsevier]

Highlights: [•] The prevalence of behaviours such as self-injury, aggression and destruction exceeds 50% in children under the age of 5 at risk for developmental disability. [•] Some characteristics are associated with these behaviours such as health conditions, repetitive behaviour and overactivity\impulsivity. [•] These characteristics might be risk markers of the future development of these behaviours and could be used in an early intervention strategy. [Copyright &y& Elsevier]

We evaluated the proportion of individuals with Down syndrome (DS: N = 108) who met criteria for autism spectrum disorder (ASD) on the Social Communication Questionnaire and the severity of ASD-related symptomatology in this group. The proportions of individuals with DS meeting the cut-off for ASD and autism in this sample were 19% and 8%, respectively. We then evaluated the behavioural profile of individuals with DS who scored above cut-off for ASD (DS+ASD; N = 17) compared with those with DS-only (N = 17) and individuals with idiopathic ASD (N = 17), matched for adaptive behaviour skills and ASD symptom severity (ASD group only). Individuals in the DS+ASD and ASD-only groups showed more stereotyped behaviour, repetitive language, overactivity and self-injury than the DS-only group (p < .001). Individuals in the DS+ASD and DS-only groups appeared less withdrawn from their surroundings than those with ASD (p < .004). These findings indicate differences in the behavioural and cognitive profile of individuals with DS+ASD compared with those with DS-only, when controlling for adaptive behaviour skills. Individuals with DS+ASD show broad similarities with individuals with idiopathic ASD with regard to ASD and behavioural characteristics but may also show some areas of subtle difference from this group. [ABSTRACT FROM PUBLISHER]

Rituals are common in religion, sports, culture and specific life-stages (childhood, parenthood, etc.), raising the question of why being engaged in such activity, what could be its benefit, and how rigid they are. Here we analyzed 19 episodes of a Zulu Umsindo dance performed by lo women. This ritual comprised a common act, performed in all dance episodes of all women, personal acts performed consistently by one woman but not by the others, and sporadic acts that varied both among and within women. There were significantly more sporadic than personal acts, and more personal than common acts, with only one common act that was performed in all 19 dance episodes. Personal and sporadic acts comprised about 90% of the dance repertoire, attesting a high flexibility in performance. Despite this high flexibility, the dance attained a seemingly rigid form due to three properties: (i) fixed temporal order that was preserved in all the dance episodes; (ii) a common act that was consistently performed by all women; and (iii) a high rate of repetition of the common act. These properties rendered the ritual its rigid form, along with enabling the dancers to display great flexibility in act repertoire. This analysis sheds new light on the content and structure of collective rituals, implicating on the understanding of how social transmission may occur, and giving potential evidence for the Sperberian view on cultural transmission. Finally, the Zulu dance seems to possess a communicative value in group solidarity without a direct involvement of precautionary systems. [ABSTRACT FROM AUTHOR]

This study explored the relationship between sensory processing abnormalities and repetitive behaviours in children with Williams Syndrome (WS; n = 21). This is a novel investigation bringing together two clinical phenomena for the first time in this neuro-developmental disorder. Parents completed the Sensory Profile (Short Form; Dunn in The sensory profile manual. San Antonio: The Psychological Corporation, ) and the Repetitive Behaviour Questionnaire (Turner ). A significant correlation was evident between the total scores on each of these measures; suggesting that children with WS who exhibit increased sensory processing abnormalities also display a higher number of repetitive behaviours. Further exploratory analyses of subscales of the measures indicated potentially important relationships that suggest a role for arousal regulation in the relationship between sensory processing abnormalities and repetitive behaviours in WS. [ABSTRACT FROM AUTHOR]

Background Self-injurious behaviour (SIB) is a devastating problem observed in individuals with various neurodevelopmental disorders, including specific genetic syndromes as well as idiopathic intellectual and developmental disability. Although an increased prevalence of SIB has been documented in specific genetic mutations, little is known about the neurobiological basis of SIB. This makes vulnerability assessment and pharmacological treatment incredibly challenging. Method Here we review evidence that SIB and other repetitive, invariant behaviours, such as stereotypy, compulsions and tics, share many phenotypic similarities, are often co-morbidly expressed and have common inducing conditions. This argues for shared or overlapping pathophysiology. As much more is known about the neurobiology of these related disorders, this should make the neurobiology of SIB a more tractable problem. Results Stereotypy, compulsions and tics are diagnostic for disorders that have received focused neurobiological investigation (autism, obsessive compulsive disorder, Tourette syndrome, respectively). In addition, animal models of these repetitive behaviours have been well characterised. Collectively, these studies have found that cortical basal ganglia circuitry dysfunction mediates repetitive behaviour. Moreover, these studies provide more detailed information and potentially testable hypotheses about specific aspects of the circuitry that may be operative in SIB. Conclusions We can use available information from clinical and animal models to make more precise hypotheses regarding the particular pathophysiology driving SIB. The results of testing such hypotheses should generate pharmacological strategies that may prove efficacious in reducing SIB. [ABSTRACT FROM AUTHOR]

Abstract: Assessment of children''s restricted and repetitive behaviours offers potential opportunities to improve early diagnosis of autism spectrum disorder (ASD) and timely access to interventions and support. To facilitate this requires understanding of the phenomenology of repetitive behaviours in ASD, including differentiating behaviours seen in ASD from other populations such as young typically developing and developmentally delayed children. A key factor in achieving understanding is valid and reliable measurement. This review considers the issues in conceptualisation of repetitive behaviours which should guide the choice of measurement tool, including definition of subtypes of repetitive behaviours, associations with age and ability, and categorisation of frequency and severity. The resulting conclusions about the requirements for measurement are applied within a systematic review of quantitative interview and questionnaire measures of repetitive behaviour used with children with ASD. The conclusions of the review lead to recommendations for existing and future research on restricted and repetitive behaviours in ASD. [Copyright &y& Elsevier]

Abstract: The repetitive behaviour questionnaire (RBQ) () is one of the three most commonly used interview/questionnaire measures of repetitive behaviour (Honey et al., in preparation). Despite this there is a scarcity of information concerning its structure, reliability and validity. The psychometric properties of the RBQ were examined when used with children with an autism spectrum disorder, children of typical development and children with a learning disability. The questionnaire was found to examine two valid and reliable factors of repetitive behaviour and to have good levels of concurrent and construct validity. This novel study provides researchers and clinicians with information necessary to make decisions about the RBQ''s utility and for the evaluation of conclusions drawn from existing research, which has used the RBQ. [Copyright &y& Elsevier]

Individuals with Prader-Willi syndrome (PWS) have been shown to demonstrate a particular cognitive deficit in attention switching and high levels of preference for routine and temper outbursts. This study assesses whether a specific pathway between a cognitive deficit and behaviour via environmental interaction can exist in individuals with PWS. Four individuals with PWS participated in a series of three single-case experiments including laboratory-based and natural environment designs. Cognitive (computer-based) challenges placed varying demands on attention switching or controlled for the cognitive demands of the tasks while placing no demands on switching. Unexpected changes to routines or expectations were presented in controlled games, or imposed on participants' natural environments and compared with control conditions during which no unexpected changes occurred. Behaviour was observed and heart rate was measured. Participants showed significantly increased temper outburst related behaviours during cognitive challenges that placed demands on attention switching, relative to the control cognitive challenges. Participants showed significantly increased temper outburst related behaviours when unexpected changes occurred in an experimental or the natural environment compared with when no changes occurred. Difficult behaviours that could be triggered reliably in an individual by a specific cognitive demand could also be triggered via manipulation of the environment. Results suggest that a directional relationship between a specific cognitive deficit and behaviour, via environmental interaction, can exist in individuals with PWS. [ABSTRACT FROM AUTHOR]

Abstract: The occurrence of stress has widely been associated with impairments in learning abilities in animals, although the influence of stress appears to differ with the complexity of tasks. Previous research has suggested that some domestic dogs exhibit both physiological (elevated cortisol) and behavioural signs of stress when newly admitted to re-homing centres. In this study we have investigated whether levels of stress as measured by urinary cortisol: creatinine is sufficient to impair the learning of simple associations. On the day following their admission to a re-homing centre, 32 dogs were trained on one classical conditioning task and one operant conditioning task; 6 days later, they were trained on a second operant conditioning task. Their mean urinary cortisol:creatinine ratio (C/C) fell from 27.1×10−6 to 22.3×10−6 (nmol/l:nmol/l) between these 2 days; a substantial proportion (78% on day 1, 63% on day 7) of dogs had ratios above the range of 5–20×10−6, which is that defined as clinically normal (), suggesting high levels of stress. The dogs’ average time to reach criterion on either task on day 1 was unrelated to C/C or to behavioural signs of stress; this lack of correspondence may reflect the diverse previous experiences of the dogs. On day 7, the six dogs which failed to reach criterion for the operant association were significantly less active and interactive in their kennels than the others. For the remainder, a high rate of learning the operant association was associated with high C/C (in excess of 40×10−6), and a poor performance was associated with fearful behaviour in the kennel. Dogs appear to have adopted one of two coping strategies: either the display of fearful behaviours and an impaired ability to learn the tasks, which may reflect a ‘reactive’ style of responding, or a higher level of HPA axis activation and an enhanced ability to rapidly learn a new task, which may be indicative of a more ‘proactive’ coping style. [Copyright &y& Elsevier]

Background Self-injurious behaviour is frequently identified as part of the behavioural phenotype of Cornelia de Lange syndrome (CdLS). We conducted a case-control study of the prevalence and phenomenology of self-injurious behaviour (SIB) in CdLS. Methods A total of 54 participants with CdLS were compared with 46 individuals who were comparable on key variables including age, degree of intellectual disability and wheelchair use, using questionnaire and observational measures. Results Clinically significant self-injury was not more prevalent in the CdLS group (55.6%), nor was it different in presentation from that seen in the comparison group. Hyperactivity, stereotyped and compulsive behaviours predicted clinically significant self-injury in all participants. Hand directed, mild self-injury was more prevalent in CdLS. Conclusions The results show that clinically significant self-injury may not be part of the behavioural phenotype of CdLS but a specific body target for proto-SIB is more common. [ABSTRACT FROM AUTHOR]