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Consensus is often a prerequisite for communities to develop initiatives to improve practice and create a future together. We investigated the consensus around the perceived educational inclusion of autistic and other neurodivergent students, their caregivers, and their teachers. Seventeen triads of informants plus two single students from mainstream secondary and high schools in Sweden underwent the standardized INCLUSIO interview operationalizing educational inclusion domains. Inclusive practice was reported across groups to be poorly to sufficiently developed for different domains and measures. Discrepancies were extensive between informants and most pronounced for students and parents versus teachers. The findings highlight limited consensus about inclusive education in practice and suggest enhanced participation of neurodivergent students and their parents to improve inclusive education implementation., (© 2022. The Author(s).)

Genetic variants affecting Heterogeneous Nuclear Ribonucleoprotein U (HNRNPU) have been identified in several neurodevelopmental disorders (NDDs). HNRNPU is widely expressed in the human brain and shows the highest postnatal expression in the cerebellum. Recent studies have investigated the role of HNRNPU in cerebral cortical development, but the effects of HNRNPU deficiency on cerebellar development remain unknown. Here, we describe the molecular and cellular outcomes of HNRNPU locus deficiency during in vitro neural differentiation of patient-derived and isogenic neuroepithelial stem cells with a hindbrain profile. We demonstrate that HNRNPU deficiency leads to chromatin remodeling of A/B compartments, and transcriptional rewiring, partly by impacting exon inclusion during mRNA processing. Genomic regions affected by the chromatin restructuring and host genes of exon usage differences show a strong enrichment for genes implicated in epilepsies, intellectual disability, and autism. Lastly, we show that at the cellular level HNRNPU downregulation leads to an increased fraction of neural progenitors in the maturing neuronal population. We conclude that the HNRNPU locus is involved in delayed commitment of neural progenitors to differentiate in cell types with hindbrain profile., Competing Interests: Competing interests M.B. is a full-time employee of Bayer AG, Germany. S.B. declares no direct conflict of interest related to this article. He discloses that he has, in the last 3 years, acted as an author, consultant, or lecturer for Medice and Roche. He receives royalties for textbooks and diagnostic tools from Hogrefe, and Liber. S.B. is shareholder in SB Education/Psychological Consulting AB and NeuroSupportSolutions International AB. The other authors have no conflicts to declare., (© 2023. Published by The Company of Biologists Ltd.)

Health-related conditions often differ qualitatively or quantitatively between individuals of different birth-assigned sexes and gender identities, and/or with different gendered experiences, requiring tailored care. Studying the moderating and mediating effects of sex-related and gender-related factors on impairment, disability, wellbeing and health is of paramount importance especially for neurodivergent individuals, who are diagnosed with neurodevelopmental conditions with uneven sex/gender distributions. Researchers have become aware of the myriad influences that sex-related and gender-related variables have on the manifestations of neurodevelopmental conditions, and contemporary work has begun to investigate the mechanisms through which these effects are mediated. Here we describe topical concepts of sex and gender science, summarize current knowledge, and discuss research and clinical challenges related to autism, attention-deficit/hyperactivity disorder and other neurodevelopmental conditions. We consider sex and gender in the context of epidemiology, behavioural phenotypes, neurobiology, genetics, endocrinology and neighbouring disciplines. The available evidence supports the view that sex and gender are important contributors to the biological and behavioural variability in neurodevelopmental conditions. Methodological caveats such as frequent conflation of sex and gender constructs, inappropriate measurement of these constructs and under-representation of specific demographic groups (for example, female and gender minority individuals and people with intellectual disabilities) limit the translational potential of research so far. Future research and clinical implementation should integrate sex and gender into next-generation diagnostics, mechanistic investigations and support practices., (© 2023. Springer Nature Limited.)

Lay Abstract: Young children who have developmental delay, autism, or other neurodevelopmental conditions can have difficulties doing things in different areas of their life. What they can and cannot do is called their level of functioning. There are lots of assessment measures that aim to assess functioning. But, we are not sure if these measures assess all the things we need to know about these children's functioning. Other research has identified lists of items (codes) that need to be assessed to understand functioning for young children with different neurodevelopmental conditions fully. These lists include body functions (the things a child's body or brain can do), activities and participation (the activities and tasks a child does) and environmental factors (parts of the environment that can influence functioning). In this study, we looked at the items from these lists assessed by different functioning measures to see how they compared to what should be assessed. The measures that we looked at covered 21%-57% of all the codes and 19%-63% of the codes for lists specific to different conditions. Most of the measures focused on activity and participation codes, and they rarely assessed environmental factors. Knowing which codes and how much of the lists the measures assess can help researchers, clinicians and policymakers to choose measures that are more appropriate for young children with neurodevelopmental conditions.

While neurodevelopmental disorders (NDDs) are highly heritable, several environmental risk factors have also been suggested. However, the role of familial confounding is unclear. To shed more light on this, we reviewed the evidence from twin and sibling studies. A systematic review was performed on case control and cohort studies including a twin or sibling within-pair comparison of neurodevelopmental outcomes, with environmental exposures until the sixth birthday. From 7,315 screened abstracts, 140 eligible articles were identified. After adjustment for familial confounding advanced paternal age, low birth weight, birth defects, and perinatal hypoxia and respiratory stress were associated with autism spectrum disorder (ASD), and low birth weight, gestational age and family income were associated with attention-deficit/hyperactivity disorder (ADHD), categorically and dimensionally. Several previously suspected factors, including pregnancy-related factors, were deemed due to familial confounding. Most studies were conducted in North America and Scandinavia, pointing to a global research bias. Moreover, most studies focused on ASD and ADHD. This genetically informed review showed evidence for a range of environmental factors of potential casual significance in NDDs, but also points to a critical need of more genetically informed studies of good quality in the quest of the environmental causes of NDDs.

Social-communication (SC) and restricted repetitive behaviors (RRB) are autism diagnostic symptom domains. SC and RRB severity can markedly differ within and between individuals and may be underpinned by different neural circuitry and genetic mechanisms. Modeling SC-RRB balance could help identify how neural circuitry and genetic mechanisms map onto such phenotypic heterogeneity. Here, we developed a phenotypic stratification model that makes highly accurate (97-99%) out-of-sample SC = RRB, SC > RRB, and RRB > SC subtype predictions. Applying this model to resting state fMRI data from the EU-AIMS LEAP dataset (n = 509), we find that while the phenotypic subtypes share many commonalities in terms of intrinsic functional connectivity, they also show replicable differences within some networks compared to a typically-developing group (TD). Specifically, the somatomotor network is hypoconnected with perisylvian circuitry in SC > RRB and visual association circuitry in SC = RRB. The SC = RRB subtype show hyperconnectivity between medial motor and anterior salience circuitry. Genes that are highly expressed within these networks show a differential enrichment pattern with known autism-associated genes, indicating that such circuits are affected by differing autism-associated genomic mechanisms. These results suggest that SC-RRB imbalance subtypes share many commonalities, but also express subtle differences in functional neural circuitry and the genomic underpinnings behind such circuitry.

Physical examinations are recommended as part of a comprehensive evaluation for individuals with neurodevelopmental disorders (NDDs), such as autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder. These examinations should include assessment for morphological variants. Previous studies have shown an increase in morphological variants in individuals with NDDs, particularly ASD, and that these variants may be present in greater amounts in individuals with genetic alterations. Unfortunately, assessment for morphological variants can be subjective and time-consuming, and require a high degree of clinical expertise. Therefore, objective, automated methods of morphological assessment are desirable. This study compared the use of Face2Gene, an automated tool to explore facial morphological variants, to clinical consensus assessment, using a cohort of N = 290 twins enriched for NDDs (n = 135 with NDD diagnoses). Agreement between automated and clinical assessments were satisfactory to complete (78.3-100%). In our twin sample, individuals with NDDs did not have greater numbers of facial morphological variants when compared to those with typical development, nor when controlling for shared genetic and environmental factors within twin pairs. Common facial morphological variants in those with and without NDDs were similar and included thick upper lip vermilion, abnormality of the nasal tip, long face, and upslanted palpebral fissure. We conclude that although facial morphological variants can be assessed reliably in NDDs with automated tools like Face2Gene, clinical utility is limited when just exploring the facial region. Therefore, currently, automated assessments may best complement, rather than replace, in-person clinical assessments., (© 2020 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals, Inc.)

Hypogonadotrophic hypogonadism (HH) is a rare disorder that manifests absent puberty and infertility. Genetic syndromes with hypogonadism, such as Klinefelter syndrome, are associated with an increased risk of neurodevelopmental disorders (NDDs). However, it is not clear whether patients with HH or transient delayed puberty in general, have an increased risk of NDDs. We performed a register-based study on a national cohort of 264 patients with HH and 7447 patients diagnosed with delayed puberty that was matched with 2640 and 74 470 controls, respectively. The outcome was defined as having any of the following NDD diagnoses: (i) autism spectrum disorder (ASD); (ii) attention deficit hyperactivity disorder (ADHD); or (iii) intellectual disability (ID). Additional sensitivity analyses were performed to control for different parental and birth variables, as well as diagnosed malformation syndromes and chromosomal anomalies (ie, Down's and Turner syndromes). Patients with HH had increased risk for being diagnosed with ASD (odds ratio [OR] = 5.7; 95% confidence interval [CI] = 2.6-12.6), ADHD (OR = 3.0; 95% CI = 1.8-5.1) and ID (OR = 18.0; 95% CI = 8.9-36.3) compared to controls. Patients with delayed puberty also had a significantly increased risk of being diagnosed with an NDD. These associations remained significant after adjustments. This is the first study to demonstrate a significant association between HH, delayed puberty and NDDs in a population-based cohort. Clinicians should be aware of the overlap between these disorders. Further studies should explore the mechanisms behind these associations., (© 2019 British Society for Neuroendocrinology.)

Aim: To study health-related quality of life (HRQoL) in children with idiopathic clubfoot (IC) and the influence of sex, clubfoot laterality and neurodevelopmental difficulties (NDD) on HRQoL., Methods: A cross-sectional questionnaire-based study in Stockholm and Skåne Counties, Sweden, of 106 children with IC born 2004-2007 (mean 9.4 ± 0.6 years) and a general population sample of 109 schoolchildren (mean 9.5 ± 0.6 years). The children and their caregivers answered the EQ-5D-Y (Youth) and Five to Fifteen questionnaires to operationalise HRQoL and NDD, respectively., Results: No reduced HRQoL on the EQ-5D-Y dimensions were reported by 51% of the children with IC, and 71% in the general population sample, with significant more problems in the IC sample regarding 'mobility', 'doing usual activities' and 'having pain or discomfort', despite similar overall health status. Neither sex nor clubfoot laterality affected HRQoL. Children with IC and NDD combined reported more problems in three out of five dimensions and lower overall health status compared with children with IC alone., Conclusion: Despite similar overall health status, children with IC had more HRQoL problems compared with the general population, being associated with coexisting NDD but not sex or clubfoot laterality., (©2018 Foundation Acta Paediatrica. Published by John Wiley & Sons Ltd.)

Aim: To evaluate neurodevelopmental difficulties in children with idiopathic clubfoot., Method: A cross-sectional study of 106 children (29 females, 77 males; aged 8-10y) with idiopathic clubfoot and 109 age-, sex-, and residential area-parallelized children from the general population. Neurodevelopmental difficulties were assessed using the parent-report Five to Fifteen (FTF) questionnaire. Group differences were analysed for FTF domains, subdomains, and items. The 90th centile cut-off of the general population on FTF and the parent-based disease-specific instrument (DSI) were used to evaluate clinical relevance of neurodevelopmental symptoms in idiopathic clubfoot., Results: Modest group differences were found for several FTF domains (motor skills, perception, and language) and subdomains (gross and fine motor skills, relation in space, comprehensive and expressive language skills). Thirty-one per cent of the children with idiopathic clubfoot scored in the clinically significant range on 2 or more FTF domains. DSI scores were lower in this subgroup., Interpretation: Findings indicate a moderate and selective increase of neurodevelopmental difficulties in children with idiopathic clubfoot as a whole, especially in the areas of motor skills, perception, and language. Idiopathic clubfoot with marked neurodevelopmental symptoms are associated with less satisfaction of the clubfoot treatment. Our results recommend awareness of neurodevelopmental difficulties in the assessment and treatment of idiopathic clubfoot., What This Paper Adds: A substantial minority of children with idiopathic clubfoot show neurodevelopmental difficulties. Children with idiopathic clubfoot might present additional difficulties in motor skills, perception, and language. Children with idiopathic clubfoot and marked neurodevelopmental symptoms show poorer parent-reported clubfoot treatment satisfaction. Neurodevelopmental difficulties should be considered in clinical practice of idiopathic clubfoot., (© 2018 Mac Keith Press.)

The second to fourth digit (2D:4D) ratio is of interest in autism spectrum disorder (ASD). Studies on the relationship of this ratio with other neurodevelopmental disorders (NDDs) are lacking. Investigating the association between the ratio and NDDs in twins can provide insight into genetic and/or environmental factors driving the ratio. Hand images were collected in N = 238 twins with NDDs or typical development from 70 monozygotic and 49 dizygotic pairs to examine ratios and their associations to DSM-5 defined categorical NDDs, autistic traits, zygosity, and sex. There were small associations for males between the ratios and any NDD and ADHD diagnoses. Males had lower ratios than females. Future studies exploring the ratio alongside physical anomalies could provide etiological insight into NDDs.

Hundreds of penetrant risk loci have been identified across different neurodevelopmental disorders (NDDs), and these often involve rare (<1% frequency) copy number variations (CNVs), which can involve one or more genes. Monozygotic (MZ) twin pairs are long thought to share 100% of their genomic information. However, genetic differences in the form of postzygotic somatic variants have been reported recently both in typically developing (TD) and in clinically discordant MZ pairs. We sought to investigate the contribution of rare CNVs in 100 twin pairs enriched for NDD phenotypes with a particular focus on postzygotic CNVs in MZ pairs discordant for autism spectrum disorder (ASD) using the Illumina Infinium PsychArray. In our sample, no postzygotic de novo CNVs were found in 55 MZ twin pairs, including the 13 pairs discordant for ASD. We did detect a higher rate of CNVs overlapping genes involved in disorders of the nervous system, such as a rare deletion affecting HNRNPU, in MZ pairs discordant and concordant for ASD in comparison with TD pairs (p = .02). Our results are in concordance with earlier findings that postzygotic de novo CNV events are typically rare in genomic DNA derived from saliva or blood, and suggests that the discordance of NDDs in our sample of twins is not explained by discordant CNVs. Still, studies investigating postzygotic variation in MZ discordant twins using DNA from different tissues and single cells and higher resolution genomics are needed in the future.

Purpose of Review: Substantial research exists focusing on the various aspects and domains of early human development. However, there is a clear blind spot in early postnatal development when dealing with neurodevelopmental disorders, especially those that manifest themselves clinically only in late infancy or even in childhood., Recent Findings: This early developmental period may represent an important timeframe to study these disorders but has historically received far less research attention. We believe that only a comprehensive interdisciplinary approach will enable us to detect and delineate specific parameters for specific neurodevelopmental disorders at a very early age to improve early detection/diagnosis, enable prospective studies and eventually facilitate randomised trials of early intervention. In this article, we propose a dynamic framework for characterising neurofunctional biomarkers associated with specific disorders in the development of infants and children. We have named this automated detection 'Fingerprint Model', suggesting one possible approach to accurately and early identify neurodevelopmental disorders.

The extent to which early motor patterns represent antecedents to later communicative functions, and the emergence of gesture and/or sign as potential communicative acts in neurodevelopmental disorders (NDDs), are research questions that have received recent attention. It is important to keep in mind that different NDDs have different neurological underpinnings, with correspondingly different implications for their conceptualization, detection, and treatment.

‘Inclusion’ aims to achieve adaptation of the environment to the diverse prerequisites and needs of individuals, instead of demanding of individuals to cope with the challenges of a given context themselves exclusively. All Scandinavian countries have made formal decisions to enhance inclusive practice for children and adolescents with disabilities in educational settings, seeking to implement international conventions. We investigated current inclusive practice for students with neurodevelopmental disorders (NDDs) in Swedish primary, secondary and high-schools using the 61-item INCLUSIO scale among N=4778 school staff with educational responsibilities in 68 public and private schools across 11 municipalities. Overall, school staff reported not to be well prepared to teach students with NDDs and that their school’s implementation of concrete inclusive practice was limited. Findings indicate a gap between inclusive educational ambitions and current practice for students with NDDs. Enriched teacher education and supervision for NDDs, a shift in pedagogical views of NDDs and better collaboration between community services, as well as systematic evidence-based implementation plans driven by policy makers and educational authorities may help improve inclusive practice.

This study examined whether teachers' professional development of their relational competence with students with attention deficit hyperactivity disorder (ADHD) and/or autism spectrum disorder (ASD) modifies teachers' and students' perceptions of their teacher-student relationships (TSR). Participants comprised teachers (n = 33) and students (n = 232) from two elementary schools: one intervention school (InS) and one control school (CoS). InS teachers reported significant TSR improvements, regardless of student group or gender (p =.03). Among InS students, significant results were driven by female neurodiverse (ND) students and neurotypical (NT) male students (p =.03). Nevertheless, positive effects were solely observed among ND female students, while NT male students, conversely, reported decreased TSR during follow-up tests. No significant effects were found at the CoS irrespective of teacher or student ratings. The findings suggest that enhancing teachers' understanding of relational competence concerning ND students will not only improve their own perceptions of their TSR but also those of ND female students. Nonetheless, directing teachers' focus towards one student group (ND students) risks diminishing teachers' attention towards other student groups, potentially explaining the poorer follow-up results among NT boys. The finding warrants further investigation, as it indicates a challenge for teachers to establish sufficient relational engagement with all students. [ABSTRACT FROM AUTHOR]

Autism spectrum disorder (ASD) is a neurodevelopmental condition diagnosed in approximately 2% of children. Reliance on the emergence of clinically observable behavioral patterns only delays the mean age of diagnosis to approximately 4 years. However, neural pathways critical to language and social functions develop during infancy, and current diagnostic protocols miss the age when therapy would be most effective. We developed non-invasive ASD biomarkers using mass spectrometry analyses of elemental metabolism in single hair strands, coupled with machine learning. We undertook a national prospective study in Japan, where hair samples were collected at 1 month and clinical diagnosis was undertaken at 4 years. Next, we analyzed a national sample of Swedish twins and, in our third study, participants from a specialist ASD center in the US. In a blinded analysis, a predictive algorithm detected ASD risk as early as 1 month with 96.4% sensitivity, 75.4% specificity, and 81.4% accuracy (n = 486; 175 cases). These findings emphasize that the dynamics in elemental metabolism are systemically dysregulated in autism, and these signatures can be detected and leveraged in hair samples to predict the emergence of ASD as early as 1 month of age. [ABSTRACT FROM AUTHOR]

Neurodevelopmental disorders (NDDs), such as autism and ADHD, are behaviorally defined adaptive functioning difficulties arising from variations, alterations and atypical maturation of the brain. While it is widely agreed that NDDs are complex conditions with their presentation and functional impact underpinned by diverse genetic and environmental factors, contemporary and polarizing debate has focused on the appropriateness of the biomedical as opposed to the neurodiverse paradigm in framing conceptions of these conditions. Despite being largely overlooked by both research and practice, the International Classification of Functioning Disability and Health (ICF) endorsed by the World Health Organization in 2001 views functioning dynamically, offering a framework for investigating, assessing and treating NDDs holistically. Exemplified by autism and ADHD, we argue that the ICF provides not only a multitude of opportunities in accounting for the environmental determinants in researching and clinically managing NDDs, but opportunities for harmonizing the seemingly irreconcilable biomedical and neurodiverse paradigms. Also see the video abstract here: https://youtu.be/YwuWPDUOs5k [ABSTRACT FROM AUTHOR]

The support needs of people with neurodevelopmental disorders are not sufficiently met during the initial years of adulthood. To evaluate feasibility and preliminary effects of a novel programme designed to empower young adults with autism spectrum disorder (ASD) and/or attention deficit hyperactivity disorder (ADHD) to make progress within significant life domains (i.e. work, education, finance, housing/household management, health, leisure/participation in society, and relationships/social network). TRANSITION is a 24-week programme that combines group-based workshops with personalised support based on goal attainment scaling. The study enrolled 26 young adults (50% females; age 17–24 years) in the normative intellectual range, diagnosed with ASD (n = 8), ADHD (n = 4), or both (n = 14). The intervention was delivered by the regular staff of publicly funded psychiatric services in Stockholm, Sweden. The programme was possible to implement with minor deviations from the manual. Participants and staff generally viewed the intervention positively, but also provided feedback to guide further improvement. There was a high degree of attendance throughout, with 21 participants (81%) completing the programme. All completers exceeded their predefined goal expectations within at least one domain. The TRANSITION-programme is a promising concept that deserves further evaluation. [ABSTRACT FROM AUTHOR]

Keywords: interdisciplinary/multidisciplinary; child development; neurodevelopmental disorders; developmental science; trajectories; infancy; childhood; adolescence EN interdisciplinary/multidisciplinary child development neurodevelopmental disorders developmental science trajectories infancy childhood adolescence 1 3 3 05/26/22 20220415 NES 220415 Research into infant and child development is, at its heart, an interdisciplinary and integrative science. Neurodevelopmental disorders, trajectories, infancy, childhood, adolescence, interdisciplinary/multidisciplinary, child development, developmental science In another section focusing on late detected developmental disorders, Orm et al. report about a 10-year-longitudinal project on cooccurring conditions in autism spectrum (ASD) and attention deficit hyperactivity disorder (ADHD). [Extracted from the article]

Background There is a paucity regarding interventions in general, and especially internet-delivered treatment options, for adolescents and young adults with autism spectrum disorder (ASD), despite the group´s capacity and willingness to utilize computer-mediated communication. This open feasibility study evaluated the new internet-delivered, psychoeducational intervention, SCOPE (Spectrum COmputerized PsychoEducation), for adolescents and young adults aged 16–25 years with ASD in the normative IQ range. Method The participation in SCOPE was facilitated by weekly contacts with disability service professionals (trained coaches) and the intervention consisted of eight ASD-themed modules. In an open feasibility study we evaluated treatment completion, treatment credibility and satisfaction, as well as preliminary efficacy. We assessed feasibility in an outpatient disability services context, regarding both participants’ and coaches’ experiences. Results Twenty-three out of the 29 included participants (79%) completed the intervention. The participants’ experience of treatment credibility was increased during the SCOPE web course and the overall satisfaction with the treatment was high. The coaches reported high treatment credibility and good clinical feasibility of the internet-based delivered intervention. The participants’ knowledge of ASD increased significantly from pre-intervention to post-intervention. The increased knowledge of ASD was not associated with negative effects on psychological well-being. Conclusions Our results suggest that the internet-delivered psychoeducational intervention SCOPE is a feasible intervention and could contribute to youth’s sense of empowerment through increased knowledge of ASD and themselves. An ongoing randomized controlled study will generate further evidence concerning the SCOPE intervention. [ABSTRACT FROM AUTHOR]

Europe is diverse in terms of economy, cultures, socio-demography, and languages. A crucial aspect of psychiatric research is the availability of standardized screening, diagnostic, and characterization instruments. We fine-mapped the accessibility of 14 clinical scales and cognitive tests for the assessment of early childhood Autism Spectrum Disorder (ASD; e.g., ADOS, ADI-R, SCQ, SRS, CHAT, MESL) within 21 European countries. These tools are essential for internationally competitive early ASD detection research. We identified a considerable variation not only in the availability, but also psychometric standardization, and formal distribution of the instruments between the countries, privileging English speaking, high-income, and highly populated European countries. Absence of country-specific standardization was a problem across many countries, independent of income and size. Findings demonstrate, on a concrete level, the challenges in creating equal early ASD identification research opportunities in Europe, and the need for increased funding for instrument development and validation. We discuss the reasons, implications, and consequences of this inequity and ways of reducing it. [ABSTRACT FROM AUTHOR]

Purpose: To assess the generalizability of findings from randomized controlled trials (RCTs) evaluating emotion recognition (ER) training for children and adolescents with autism spectrum disorder (ASD). Methods: We present a systematic review and narrative synthesis of the determinants of external validity in RCTs on ER training. Generalizability of the findings across situations, populations, settings, treatment delivery, and intervention formats was considered. Results: We identified 13 eligible studies. Participants were predominantly boys with ASD in the normative IQ range (IQ > 70), with an age span from 4 to 18 years across studies. Interventions and outcome measures were highly variable. Several studies indicated that training may improve ER, but it is still largely unknown to what extent training effects are translated to daily social life. Conclusion: The generalizability of findings from currently available RCTs remains unclear. This underscores the importance of involving children with ASD and their caregivers in informed treatment decisions. [ABSTRACT FROM AUTHOR]

Introduction: The purpose of this study was to explore the viewpoints of parents of young people with Autism Spectrum Disorder (ASD) in relation to their child’s transition to adulthood. Methods: Data were collected during four structured focus groups with 19 parents of young people with ASD with average to high intellectual capacities. Condensed meaning units were identified and checked during focus groups, and were subsequently linked to the International Classification of Functioning, Disability and Health (ICF). Results: Three major themes emerged: to be understood, to understand the world and to succeed. The ICF domains of activity and participation and environmental factors emerged as having the greatest potential to influence transition outcomes. Conclusions: Policies and services should focus on strengths to maximise participation in higher education, employment and independent living amongst young people with ASD. Interventions targeting environmental factors could be effective in improving participation in adult life. Person-centred and individualised approaches could further complement this approach supporting the transition to adulthood for people with ASD, ultimately improving outcomes in adulthood. [ABSTRACT FROM AUTHOR]

Background: Minor physical anomalies (MPAs) are subtle anatomical deviations in one's appearance and may suggest altered embryogenesis. MPAs have been shown to be more common in neurodevelopmental disorders (NDDs) compared with typical development. Still, further studies are needed on MPAs in NDDs, especially using twins to adjust for confounding familial factors. Methods: Clinical assessments were conducted on 116 twins (61 NDD, 55 controls) from 51 monozygotic and 7 dizygotic pairs to examine MPAs and their association with DSM-5 defined NDDs. Additionally, the relationship between the number of MPAs within twins by zygosity was investigated. Results: Within the cohort sample, a specific association was found between MPAs and autism spectrum disorder (ASD) diagnosis (crude odds ratio = 1.29, p = .047; adjusted odds ratios = 1.26-1.33, adjusted p values = .032-.073) and autistic traits (crude ß = 3.02, p = .002; adjusted ß = 2.28, p = .019), but not NDDs in general or ADHD, nor within-pairs. Identified MPAs in ASD included overweight, hypermobility, pes planus, straight eyebrows, vision impairment, arachnodactyly/long toes, long eyelashes, and microtia. The number of MPAs within all monozygotic pairs was highly correlated (r = .88, p < .001). Conclusion: MPAs are more frequent in participants with ASD and may be influenced by genetics. The value of MPAs for (early) detection should be further explored, as they might index individuals at increased risk for ASD in particular. [ABSTRACT FROM AUTHOR]

Systematic reviews have traditionally focused on internal validity, while external validity often has been overlooked. In this study, we systematically reviewed determinants of external validity in the accumulated randomized controlled trials of social skills group interventions for children and adolescents with autism spectrum disorder. We extracted data clustered into six overarching themes: source population, included population, context, treatment provider, treatment intervention, and outcome. A total of 15 eligible randomized controlled trials were identified. The eligible population was typically limited to high-functioning school-aged children with autism spectrum disorder, and the included population was predominantly male and Caucasian. Scant information about the recruitment of participants was provided, and details about treatment providers and settings were sparse. It was not evident from the trials to what extent acquired social skills were enacted in everyday life and maintained over time. We conclude that the generalizability of the accumulated evidence is unclear and that the determinants of external validity are often inadequately reported. At this point, more effectiveness-oriented randomized controlled trials of equally high internal and external validity are needed. More attention to the determinants of external validity is warranted when this new generation of randomized controlled trials are planned and reported. We provide a tentative checklist for this purpose. [ABSTRACT FROM AUTHOR]

Background: The ability to follow gaze is an important prerequisite for joint attention, which is often compromised in children with autism spectrum disorder (ASD). The direction of both the head and eyes provides cues to other people's attention direction, but previous studies have not separated these factors and their relation to ASD susceptibility. Development of gaze following typically occurs before ASD diagnosis is possible, and studies of high-risk populations are therefore important. Methods: Eye tracking was used to assess gaze following during interaction in a group of 10-month-old infants at high familial risk for ASD (high-risk group) as well as a group of infants with no family history of ASD (low-risk group). The infants watched an experimenter gaze at objects in the periphery. Performance was compared across two conditions: one in which the experimenter moved both the eyes and head toward the objects (Eyes and Head condition) and one that involved movement of the eyes only (Eyes Only condition). Results: A group by condition interaction effect was found. Specifically, whereas gaze following accuracy was comparable across the two conditions in the low-risk group, infants in the high-risk group were more likely to follow gaze in the Eyes and Head condition than in the Eyes Only condition. Conclusions: In an ecologically valid social situation, responses to basic non-verbal orienting cues were found to be altered in infants at risk for ASD. The results indicate that infants at risk for ASD may rely disproportionally on information from the head when following gaze and point to the importance of separating information from the eyes and the head when studying social perception in ASD. [ABSTRACT FROM AUTHOR]

Current evidence suggests the phenotype of autism spectrum disorder to be driven by a complex interaction of genetic and environmental factors impacting onto brain maturation, synaptic function, and cortical networks. However, findings are heterogeneous, and the exact neurobiological pathways of autism spectrum disorder still remain poorly understood. The co-twin control or twin-difference design is a potentially powerful tool to disentangle causal genetic and environmental contributions on neurodevelopment in autism spectrum disorder. To this end, monozygotic twins discordant for this condition provide unique means for the maximum control of potentially confounding factors. Unfortunately, only few studies of a rather narrow scope, and limited sample size, have been conducted. In an attempt to highlight the great potential of combining the brain connectome approach with monozygotic twin design, we first give an overview of the existing neurobiological evidence for autism spectrum disorder and its cognitive correlates. Then, a special focus is made onto the brain imaging findings reported within populations of monozygotic twins phenotypically discordant for autism spectrum disorder. Finally, we introduce the brain connectome model and describe an ongoing project using this approach among the largest cohort of monozygotic twins discordant for autism spectrum disorder ever recruited. [ABSTRACT FROM PUBLISHER]

Autism spectrum disorder and schizophrenia share a substantial number of etiologic and phenotypic characteristics. Still, no direct comparison of both disorders has been performed to identify differences and commonalities in brain structure. In this voxel based morphometry study, 34 patients with autism spectrum disorder, 21 patients with schizophrenia and 26 typically developed control subjects were included to identify global and regional brain volume alterations. No global gray matter or white matter differences were found between groups. In regional data, patients with autism spectrum disorder compared to typically developed control subjects showed smaller gray matter volume in the amygdala, insula, and anterior medial prefrontal cortex. Compared to patients with schizophrenia, patients with autism spectrum disorder displayed smaller gray matter volume in the left insula. Disorder specific positive correlations were found between mentalizing ability and left amygdala volume in autism spectrum disorder, and hallucinatory behavior and insula volume in schizophrenia. Results suggest the involvement of social brain areas in both disorders. Further studies are needed to replicate these findings and to quantify the amount of distinct and overlapping neural correlates in autism spectrum disorder and schizophrenia. [ABSTRACT FROM AUTHOR]

Although autism spectrum disorder is defined by reciprocal social-communication impairments, several studies have found no evidence for altered social cognition test performance. This study examined explicit (i.e. prompted) and implicit (i.e. spontaneous) variants of social cognition testing in autism spectrum disorder. A sample of 19 adolescents with autism spectrum disorder and 19 carefully matched typically developing controls completed the Dewey Story Test. ‘Explicit’ (multiple-choice answering format) and ‘implicit’ (free interview) measures of social cognition were obtained. Autism spectrum disorder participants did not differ from controls regarding explicit social cognition performance. However, the autism spectrum disorder group performed more poorly than controls on implicit social cognition performance in terms of spontaneous perspective taking and social awareness. Findings suggest that social cognition alterations in autism spectrum disorder are primarily implicit in nature and that an apparent absence of social cognition difficulties on certain tests using rather explicit testing formats does not necessarily mean social cognition typicality in autism spectrum disorder. [ABSTRACT FROM PUBLISHER]

Introduction: The study of differences between monozygotic (MZ) twin pairs with respect to ADHD may provide novel leads to disentangle the environmental contribution driving its phenotypes. Objectives: To examine non-shared environmental influences on executive function in dimensionally defined ADHD. Methods: This study included 27 MZ twin pairs (7 female) aged 11–20 years being moderately to substantially discordant for ADHD traits as assessed by the Attention Problem (AP) scale of the Child Behavior Checklist/Adult Behavior Checklist. The twins completed the Wisconsin Card Sorting Test (WCST) for cognitive flexibility and the Tower Test (TT) for foresighted planning. Two statistical approaches were used to analyze the data. First, correlations between ADHD trait intra-pair differences and WCST and TT scores were calculated. Second, the significance of those intra-pair differences on WCST and TT, using ADHD as categorical variable in clinically discordant pairs, was tested. Results: Both analysing strategies revealed a link between ADHD on one hand, and foresighted planning and inhibitory control on the other hand mediated by non-shared environmental factors. The first statistical approach yielded positive correlations between intra-pairs differences on the AP scale and intra-pair differences on two subscales of the TT: total rule violation (rs = 0·41) and rule-violation-per-item-ratio (rs = 0·38). Findings in categorically discordant pairs were consistent, showing within-pair differences on the same subtests (z-1·63, P = 0·05, one-tailed and z = −1·60, P = 0·05, one-tailed). Conclusions: Findings confirm previous research suggesting ADHD to be a quantitative extreme on a continuum with executive functions being a cognitive marker of ADHD traits. Non-shared environmental factors appear to influence planning skills and inhibitory control. [ABSTRACT FROM AUTHOR]

Summary Where one looks within their environment constrains one’s visual experiences, directly affects cognitive, emotional, and social processing [ 1–4 ], influences learning opportunities [ 5 ], and ultimately shapes one’s developmental path. While there is a high degree of similarity across individuals with regard to which features of a scene are fixated [ 6–8 ], large individual differences are also present, especially in disorders of development [ 9–13 ], and clarifying the origins of these differences is essential to understand the processes by which individuals develop within the complex environments in which they exist and interact. Toward this end, a recent paper [ 14 ] found that “social visual engagement”—namely, gaze to eyes and mouths of faces—is strongly influenced by genetic factors. However, whether genetic factors influence gaze to complex visual scenes more broadly, impacting how both social and non-social scene content are fixated, as well as general visual exploration strategies, has yet to be determined. Using a behavioral genetic approach and eye tracking data from a large sample of 11-year-old human twins (233 same-sex twin pairs; 51% monozygotic, 49% dizygotic), we demonstrate that genetic factors do indeed contribute strongly to eye movement patterns, influencing both one’s general tendency for visual exploration of scene content, as well as the precise moment-to-moment spatiotemporal pattern of fixations during viewing of complex social and non-social scenes alike. This study adds to a now growing set of results that together illustrate how genetics may broadly influence the process by which individuals actively shape and create their own visual experiences. [ABSTRACT FROM AUTHOR]