There is now good evidence that behavioural signs of autism spectrum conditions (autism) emerge over the first two years of life. Identifying clear developmental differences early in life may ...facilitate earlier identification and intervention that can promote longer-term quality of life. Here we present a systematic review of studies investigating behavioural markers of later autism diagnosis or symptomology taken at 0–6 months. The following databases were searched for articles published between 01/01/2000 and 15/03/2022: Embase, Medline, Scopus, PubMed, PsycINFO, CINAHL, Web of Science and Proquest. Twenty-five studies met inclusion criteria: assessment of behaviour at 0–6 months and later assessment of autism symptomology or diagnosis. Studies examined behaviours of attention, early social and communication behaviours, and motor behaviours, as well as composite measures. Findings indicated some evidence of measures of general attention, attention to social stimuli, and motor behaviours associated with later autism diagnosis or symptomology. Findings were inconsistent regarding social and communication behaviours, with a lack of repeated or validated measures limiting drawing firm conclusions. We discuss implications of the findings and suggest recommendations for future research.
•Behavioural signs of autism emerge over the first two years of life.•Evidence of attention and motor behaviours associated with later autism in the first 6 months.•Inconsistent evidence of social and communication behaviours associated with later autism.•A lack of repeated or validated measures limits drawing firm conclusions.
Past research has highlighted the importance of early identification of developmental differences to improve targeted access to early interventions or supports. As such, it is of particular ...importance in the context of children at elevated likelihood of autism (such as where an older sibling has a diagnosis of autism), to better understand when and which early concerns are important as predictors of which children will benefit from pre-diagnostic supports. This study explored the number and frequency of retrospective parent reported concerns within the first year of life for children diagnosed with autism, both those who had an older sibling diagnosed with autism and those who did not, as well as for undiagnosed siblings. We found that at both 0-6 and 7-12 months, the only factor related to the presence or absence of early parent reported concerns was child diagnostic status, with the presence of reported early concerns more likely for children with a diagnosis of autism. These findings suggest that for children at elevated likelihood of autism, parents' concerns are driven primarily by developmental differences, with child's birth order and sibling diagnostic status not impacting on parent early concerns.
‘High functioning autism’ is a term often used for individuals with autism spectrum disorder without an intellectual disability. Over time, this term has become synonymous with expectations of ...greater functional skills and better long-term outcomes, despite contradictory clinical observations. This study investigated the relationship between adaptive behaviour, cognitive estimates (intelligence quotient) and age at diagnosis in autism spectrum disorder. Participants (n = 2225, 1–18 years of age) were notified at diagnosis to a prospective register and grouped by presence (n = 1041) or absence (n = 1184) of intellectual disability. Functional abilities were reported using the Vineland Adaptive Behaviour Scales. Regression models suggested that intelligence quotient was a weak predictor of Vineland Adaptive Behaviour Scales after controlling for sex. Whereas the intellectual disability group’s adaptive behaviour estimates were close to reported intelligence quotients, Vineland Adaptive Behaviour Scales scores fell significantly below intelligence quotients for children without intellectual disability. The gap between intelligence quotient and Vineland Adaptive Behaviour Scales scores remained large with increasing age at diagnosis for all children. These data indicate that estimates from intelligence quotient alone are an imprecise proxy for functional abilities when diagnosing autism spectrum disorder, particularly for those without intellectual disability. We argue that ‘high functioning autism’ is an inaccurate clinical descriptor when based solely on intelligence quotient demarcations and this term should be abandoned in research and clinical practice.
Inaccurate body size judgments are associated with body image disturbances, a clinical feature of many eating disorders. Accordingly, body-related stimuli have become increasingly important in the ...study of estimation inaccuracies and body image disturbances. Technological advancements in the last decade have led to an increased use of computer-generated (CG) body stimuli in body image research. However, recent face perception research has suggested that CG face stimuli are not recognized as readily and may not fully tap facial processing mechanisms. The current study assessed the effectiveness of using CG stimuli in an established body size estimation task (the “bodyline” task). Specifically, we examined whether employing CG body stimuli alters body size judgments and associated estimation biases. One hundred and six 17- to 25-year-old females completed the CG bodyline task, which involved estimating the size of full-length CG body stimuli along a visual analogue scale. Our results show that perception of body size for CG stimuli was non-linear. Participants struggled to discriminate between extreme bodies sizes and overestimated the size change between near to average bodies. Furthermore, one of our measured size estimation biases was larger for CG stimuli. Our collective findings suggest using caution when employing CG stimuli in experimental research on body perception.
Objectives
Children who have an older sibling diagnosed with autism have an increased likelihood of being diagnosed with autism or developing broader developmental difficulties. This study explored ...perinatal experiences of parents of a child diagnosed with autism, spanning pre-conception until the subsequent child’s early developmental period.
Methods
Qualitative interviews were conducted with ten parents of a child diagnosed with autism, and ten parents of a child with no neurodevelopmental diagnosis, each of whom had gone on to have a subsequent child. Thematic analysis occurred concurrently with data collection and involved comparisons between the two samples.
Results
Four themes were identified in relation to the perinatal period of a subsequent child following the autism diagnosis of an older child. These were parental experiences of “apprehension”, “adjustment”, and “adaptation”, underpinned by the “importance of support”. Many experiences of parenting were similar between the two groups, with comparison between the groups identifying the role of autism in an increased focus, concern, and hypervigilance to their child’s development.
Conclusions
Having a child diagnosed with autism intensifies some of the common experiences of parenting and infancy. The challenges identified by parents throughout the experience of parenting an infant after having a child diagnosed with autism indicate that the development of supports could help empower families in this situation going forwards.
Objectives
Developmental theory and previous studies support the potential value of prodromal interventions for infants at elevated likelihood of developing autism. Past research has supported the ...efficacy of parent-mediated prodromal therapies with infants from as early as 7 months. We outline the rationale for implementing interventions following this model from even earlier in development and report on the feasibility of a novel intervention developed following this model of parent-mediated infant interventions.
Methods
We report a feasibility study (
n
= 13) of a parent-mediated, video-aided intervention, beginning during pregnancy, focussed on parent-infant interactions. The study evaluated the feasibility of this intervention initially with a general population sample. Feasibility was assessed across four domains (acceptability, implementation, practicality and integration) using self-report questionnaire, semi-structured interviews with parents and therapists, attendance and assessment completion.
Results
Feasibility assessment shows that the intervention was acceptable, with all participants reporting that they had benefited from the program, with perceived positive benefits to their understanding of and communication with their infant, and that they had integrated program teachings into everyday life. The intervention was implemented as planned with 100% attendance for the core sessions. Changes to minimise the number of antenatal sessions was suggested to improve practicality.
Conclusions
This study found initial feasibility for this intervention in a general population sample. This suggests parent-mediated video feedback interventions are a promising format to be implemented within the perinatal developmental time period.
Autism spectrum disorder (ASD) is a complex neurodevelopmental condition whose biological basis is yet to be elucidated. The Australian Autism Biobank (AAB) is an initiative of the Cooperative ...Research Centre for Living with Autism (Autism CRC) to establish an Australian resource of biospecimens, phenotypes and genomic data for research on autism.
Genome-wide single-nucleotide polymorphism genotypes were available for 2,477 individuals (after quality control) from 546 families (436 complete), including 886 participants aged 2 to 17 years with diagnosed (n = 871) or suspected (n = 15) ASD, 218 siblings without ASD, 1,256 parents, and 117 unrelated children without an ASD diagnosis. The genetic data were used to confirm familial relationships and assign ancestry, which was majority European (n = 1,964 European individuals). We generated polygenic scores (PGS) for ASD, IQ, chronotype and height in the subset of Europeans, and in 3,490 unrelated ancestry-matched participants from the UK Biobank. We tested for group differences for each PGS, and performed prediction analyses for related phenotypes in the AAB. We called copy-number variants (CNVs) in all participants, and intersected these with high-confidence ASD- and intellectual disability (ID)-associated CNVs and genes from the public domain.
The ASD (p = 6.1e-13), sibling (p = 4.9e-3) and unrelated (p = 3.0e-3) groups had significantly higher ASD PGS than UK Biobank controls, whereas this was not the case for height-a control trait. The IQ PGS was a significant predictor of measured IQ in undiagnosed children (r = 0.24, p = 2.1e-3) and parents (r = 0.17, p = 8.0e-7; 4.0% of variance), but not the ASD group. Chronotype PGS predicted sleep disturbances within the ASD group (r = 0.13, p = 1.9e-3; 1.3% of variance). In the CNV analysis, we identified 13 individuals with CNVs overlapping ASD/ID-associated CNVs, and 12 with CNVs overlapping ASD/ID/developmental delay-associated genes identified on the basis of de novo variants.
This dataset is modest in size, and the publicly-available genome-wide-association-study (GWAS) summary statistics used to calculate PGS for ASD and other traits are relatively underpowered.
We report on common genetic variation and rare CNVs within the AAB. Prediction analyses using currently available GWAS summary statistics are largely consistent with expected relationships based on published studies. As the size of publicly-available GWAS summary statistics grows, the phenotypic depth of the AAB dataset will provide many opportunities for analyses of autism profiles and co-occurring conditions, including when integrated with other omics datasets generated from AAB biospecimens (blood, urine, stool, hair).
Nausea and vomiting during pregnancy (NVP) is thought to be caused by changes in maternal hormones during pregnancy. Differences in hormone exposure during prenatal life have been implicated in the ...causal pathways for some cases of autism spectrum disorder (ASD). However, no study has investigated whether the presence and severity of NVP may be related to symptom severity in offspring with ASD.
A large sample of children with ASD (227 males and 60 females, aged 2 to 18 years) received a clinical assessment, during which parents completed questionnaires regarding their child's social (Social Responsiveness Scale, SRS) and communication (Children's Communication Checklist-2nd edition, CCC-2) symptoms. Parents also reported on a 5-point scale the frequency and severity of NVPs during the pregnancy of the child being assessed: (1) no NVP during the pregnancy, (2) occasional nausea, but no vomiting, (3) daily nausea, but no vomiting, (4) occasional vomiting, with or without nausea, and (5) daily nausea and vomiting.
Impairments in social responsiveness in offspring, as indexed by SRS total score, significantly increased as a function of the frequency and severity of their mothers' NVP, as did the level of language difficulties as indexed by the Global Communication Composite of the CCC-2.
The strong, positive association between increasing frequency and severity of NVP and ASD severity in offspring provides further evidence that exposure to an atypical hormonal environment during prenatal life may affect neurodevelopment and contribute to the ASD phenotype. Given that the measure of NVP symptoms in the current study was based on retrospective recall, replication of this finding is required before strong conclusions can be drawn.
Body size is a salient marker of physical health, with extremes implicated in various mental and physical health issues. It is therefore important to understand the mechanisms of perception of body ...size of self and others. We report a novel technique we term the bodyline, based on the numberline technique in numerosity studies. One hundred and three young women judged the size of sequentially presented female body images by positioning a marker on a line, delineated with images of extreme sizes. Participants performed this task easily and well, with average standard deviations less than 6% of the total scale. Critically, judgments of size were biased towards the previously viewed body, demonstrating that serial dependencies occur in the judgment of body size. The magnitude of serial dependence was well predicted by a simple Kalman-filter ideal-observer model, suggesting that serial dependence occurs in an optimal, adaptive way to improve performance in size judgments.
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