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Features of autism spectrum disorder, attention-deficit/hyperactivity disorder, learning disorders, intellectual disabilities, and communication and motor disorders usually emerge early in life and are associated with atypical neurodevelopment. These "neurodevelopmental conditions" are grouped together in the DSM-5 and ICD-11 to reflect their shared characteristics. Yet, reliance on categorical diagnoses poses significant challenges in both research and clinical settings (e.g., high co-occurrence, arbitrary diagnostic boundaries, high within-disorder heterogeneity). Taking a transdiagnostic dimensional approach provides a useful alternative for addressing these limitations, accounting for shared underpinnings across neurodevelopmental conditions, and characterizing their common co-occurrence and developmental continuity with other psychiatric conditions. Neurodevelopmental features have not been adequately considered in transdiagnostic psychiatric frameworks, although this would have fundamental implications for research and clinical practices. Growing evidence from studies on the structure of neurodevelopmental and other psychiatric conditions indicates that features of neurodevelopmental conditions cluster together, delineating a "neurodevelopmental spectrum" ranging from normative to impairing profiles. Studies on shared genetic underpinnings, overlapping cognitive and neural profiles, and similar developmental course and efficacy of support/treatment strategies indicate the validity of this neurodevelopmental spectrum. Further, characterizing this spectrum alongside other psychiatric dimensions has clinical utility, as it provides a fuller view of an individual's needs and strengths, and greater prognostic utility than diagnostic categories. Based on this compelling body of evidence, we argue that incorporating a new neurodevelopmental spectrum into transdiagnostic frameworks has considerable potential for transforming our understanding, classification, assessment, and clinical practices around neurodevelopmental and other psychiatric conditions.

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Introduction: This paper describes an innovative Framework for Remotely Enabled Co-Design with Young people (FREDY), which details an adaptable four-stage process for generating design concepts with children and other key stakeholders in a naturalistic and inclusive way. Methods: Recommendations from existing patient engagement and design methodologies were combined to provide research teams with procedures to capture and analyse end-user requirements rapidly. Resulting insights were applied through iterative design cycles to achieve accelerated and user-driven innovation. Results: Applying this framework with neurodiverse children within the context of healthcare, shows how creative design methods can give rise to new opportunities for co-creating across diverse geographies, abilities, and backgrounds as well as strengthen co-designer approval of the co-design process and resulting product. Discussion: We summarise key learnings and principles for fostering trust and sustaining participation with remote activities, and facilitating stakeholder design input through continuous collaboration, as well as highlight the potential benefits and challenges of utilising FREDY with neurotypical populations.

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AIM: To elicit experiences of parents of children with neurodevelopmental conditions using a new perioperative pathway. METHOD: Parents of children accessing an adapted perioperative clinical pathway in a tertiary children's hospital between July 2019 and December 2020 were invited to participate. A mixed method study was conducted comprising a short survey questionnaire followed by telephonic interviews. RESULTS: From 67 postal surveys sent out, 20 were completed. Six out of 20 parents participated in phone interviews and one parent submitted written prose. Parents were positive about their experiences. Six themes emerged: Negative past experiences (highlighting the need for adapted perioperative pathways); Reasonable adjustments (improving child and parent's hospital journey); Facilitating communication, convenience and collaboration; Parent's satisfaction and relief; Barriers to overcome and Areas in need of improvement were discussed. CONCLUSION: Parents of children with neurodevelopmental conditions report great satisfaction and relief from their experiences of a more efficient, streamlined and stress-free way for their child to have tests or procedures done. Parents report improved communication, convenience and collaboration with staff resulted in timely, safe and high-quality care.

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BACKGROUND: Emotional problems (EPs) increase sharply after mid-adolescence. Earlier EPs are associated with poorer long-term outcomes, and their underlying mechanisms may differ to later-onset EPs. Given an established relationship between ADHD, autism, and later depression, we aimed to examine associations between neurodevelopmental conditions and correlates and early adolescent-onset EPs. METHODS: Adolescents in two UK population cohorts, Avon Longitudinal Study of Parents and Children (ALSPAC) and Millennium Cohort Study (MCS), were included. Individuals scoring >6 on the Strengths and Difficulties Questionnaire (SDQ) emotional problems subscale between ages 11-14 were defined as having early adolescent-onset EP, whilst those scoring >6 for the first time at 16-25 were defined as having later-onset EP. We tested associations between early adolescent-onset EP (total cases = 887, controls = 19,582) and ICD-10/DSM-5 neurodevelopmental conditions and known correlates, including: sex, birth complications, low cognitive ability, special educational needs (SEND), and epilepsy. Analyses were conducted separately in ALSPAC and MCS then meta-analysed. RESULTS: In the meta-analysis of both cohorts, early adolescent-onset EPs were associated with female sex and greater likelihood of low cognitive ability, SEND, autism, ADHD, and reading difficulties. Compared to later-onset EP, early adolescent-onset EPs were associated with male sex, low cognitive ability, SEND, epilepsy, ASD, ADHD, and reading difficulties. LIMITATIONS: A clinical definition of depression/anxiety was available only in ALSPAC, instead we primarily defined EP via questionnaires, which capture a broader phenotype. CONCLUSIONS: Individuals with early adolescent-onset EP are likely to have a co-occurring neurodevelopmental condition. Clinicians should consider assessing for neurodevelopmental conditions in young adolescents with EPs.

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OBJECTIVE: This study aimed to develop a novel approach using routinely collected electronic health records (EHRs) data to improve the prediction of a rare event. We illustrated this using an example of improving early prediction of an autism diagnosis, given its low prevalence, by leveraging correlations between autism and other neurodevelopmental conditions (NDCs). METHODS: To achieve this, we introduced a conditional multi-label model by merging conditional learning and multi-label methodologies. The conditional learning approach breaks a hard task into more manageable pieces in each stage, and the multi-label approach utilizes information from related neurodevelopmental conditions to learn predictive latent features. The study involved forecasting autism diagnosis by age 5.5 years, utilizing data from the first 18 months of life, and the analysis of feature importance correlations to explore the alignment within the feature space across different conditions. RESULTS: Upon analysis of health records from 18,156 children, we are able to generate a model that predicts a future autism diagnosis with moderate performance (AUROC=0.76). The proposed conditional multi-label method significantly improves predictive performance with an AUROC of 0.80 (p < 0.001). Further examination shows that both the conditional and multi-label approach alone provided marginal lift to the model performance compared to a one-stage one-label approach. We also demonstrated the generalizability and applicability of this method using simulated data with high correlation between feature vectors for different labels. CONCLUSION: Our findings underscore the effectiveness of the developed conditional multi-label model for early prediction of an autism diagnosis. The study introduces a versatile strategy applicable to prediction tasks involving limited target populations but sharing underlying features or etiology among related groups.

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BACKGROUND: Diagnosis of child and adolescent psychopathologies involves a multifaceted approach, integrating clinical observations, behavioral assessments, medical history, cognitive testing, and familial context information. Digital technologies, especially internet-based platforms for administering caregiver-rated questionnaires, are increasingly used in this field, particularly during the screening phase. The ascent of digital platforms for data collection has propelled advanced psychopathology classification methods such as supervised machine learning (ML) into the forefront of both research and clinical environments. This shift, recently called psycho-informatics, has been facilitated by gradually incorporating computational devices into clinical workflows. However, an actual integration between telemedicine and the ML approach has yet to be fulfilled. OBJECTIVE: Under these premises, exploring the potential of ML applications for analyzing digitally collected data may have significant implications for supporting the clinical practice of diagnosing early psychopathology. The purpose of this study was, therefore, to exploit ML models for the classification of attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) using internet-based parent-reported socio-anamnestic data, aiming at obtaining accurate predictive models for new help-seeking families. METHODS: In this retrospective, single-center observational study, socio-anamnestic data were collected from 1688 children and adolescents referred for suspected neurodevelopmental conditions. The data included sociodemographic, clinical, environmental, and developmental factors, collected remotely through the first Italian internet-based screening tool for neurodevelopmental disorders, the Medea Information and Clinical Assessment On-Line (MedicalBIT). Random forest (RF), decision tree, and logistic regression models were developed and evaluated using classification accuracy, sensitivity, specificity, and importance of independent variables. RESULTS: The RF model demonstrated robust accuracy, achieving 84% (95% CI 82-85; P<.001) for ADHD and 86% (95% CI 84-87; P<.001) for ASD classifications. Sensitivities were also high, with 93% for ADHD and 95% for ASD. In contrast, the DT and LR models exhibited lower accuracy (DT 74%, 95% CI 71-77; P<.001 for ADHD; DT 79%, 95% CI 77-82; P<.001 for ASD; LR 61%, 95% CI 57-64; P<.001 for ADHD; LR 63%, 95% CI 60-67; P<.001 for ASD) and sensitivities (DT: 82% for ADHD and 88% for ASD; LR: 62% for ADHD and 68% for ASD). The independent variables considered for classification differed in importance between the 2 models, reflecting the distinct characteristics of the 3 ML approaches. CONCLUSIONS: This study highlights the potential of ML models, particularly RF, in enhancing the diagnostic process of child and adolescent psychopathology. Altogether, the current findings underscore the significance of leveraging digital platforms and computational techniques in the diagnostic process. While interpretability remains crucial, the developed approach might provide valuable screening tools for clinicians, highlighting the significance of embedding computational techniques in the diagnostic process.

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Background: Autism spectrum disorder (ASD), attention-deficit/hyperactivity disorder (ADHD), and schizophrenia (SCZ) are highly heritable and linked to disruptions in foetal (neuro)development. While epigenetic processes are considered an important underlying pathway between genetic susceptibility and neurodevelopmental conditions, it is unclear (i) whether genetic susceptibility to these conditions is associated with epigenetic patterns, specifically DNA methylation (DNAm), already at birth; (ii) to what extent DNAm patterns are unique or shared across conditions, and (iii) whether these neonatal DNAm patterns can be leveraged to enhance genetic prediction of (neuro)developmental outcomes. Methods: We conducted epigenome-wide meta-analyses of genetic susceptibility to ASD, ADHD, and schizophrenia, quantified using polygenic scores (PGSs) on cord blood DNAm, using four population-based cohorts (n pooled=5,802), all North European. Heterogeneity statistics were used to estimate overlap in DNAm patterns between PGSs. Subsequently, DNAm-based measures of PGSs were built in a target sample, and used as predictors to test incremental variance explained over PGS in 130 (neuro)developmental outcomes spanning birth to 14 years. Outcomes: In probe-level analyses, SCZ-PGS associated with neonatal DNAm at 246 loci (p<9×10-8), predominantly in the major histocompatibility complex. Functional characterization of these DNAm loci confirmed strong genetic effects, significant blood-brain concordance and enrichment for immune-related pathways. 8 loci were identified for ASD-PGS (mapping to FDFT1 and MFHAS1), and none for ADHD-PGS. Regional analyses indicated a large number of differentially methylated regions for all PGSs (SCZ-PGS: 157, ASD-PGS: 130, ADHD-PGS: 166). DNAm signals showed little overlap between PGSs. We found suggestive evidence that incorporating DNAm-based measures of genetic susceptibility at birth increases explained variance for several child cognitive and motor outcomes over and above PGS. Interpretation: Genetic susceptibility for neurodevelopmental conditions, particularly schizophrenia, is detectable in cord blood DNAm at birth in a population-based sample, with largely distinct DNAm patterns between PGSs. These findings support an early-origins perspective on schizophrenia. Funding: HorizonEurope; European Research Council.

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PURPOSE: The aim of this study is to identify likely pathogenic (LP) and pathogenic (P) genetic results for autism that can be returned to participants in SPARK (SPARKforAutism.org): a large recontactable cohort of people with autism in the United States. We also describe the process to return these clinically confirmed genetic findings. METHODS: We present results from microarray genotyping and exome sequencing of 21,532 individuals with autism and 17,785 of their parents. We returned LP and P (American College of Medical Genetics criteria) copy-number variants, chromosomal aneuploidies, and variants in genes with strong evidence of association with autism and intellectual disability. RESULTS: We identified 1903 returnable LP/P variants in 1861 individuals with autism (8.6%). 89.5% of these variants were not known to participants. The diagnostic genetic result was returned to 589 participants (53% of those contacted). Features associated with a higher probability of having a returnable result include cognitive and medically complex features, being female, being White (versus non-White) and being diagnosed more than 20 years ago. We also find results among autistics across the spectrum, as well as in transmitting parents with neuropsychiatric features but no autism diagnosis. CONCLUSION: SPARK offers an opportunity to assess returnable results among autistic people who have not been ascertained clinically. SPARK also provides practical experience returning genetic results for a behavioral condition at a large scale.

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BACKGROUND: Population-based studies have observed sex biases in the diagnosis and treatment of attention-deficit hyperactivity disorder (ADHD). Females are less likely to be diagnosed or prescribed ADHD medication. This study uses national healthcare records, to investigate sex differences in diagnosis and clinical care in young people with ADHD, particularly regarding recognition and treatment of other mental health conditions. METHODS: The cohort included individuals diagnosed with ADHD, born between 1989 and 2013 and living in Wales between 2000 and 2019. Routine primary and secondary healthcare record data were used to derive diagnoses of ADHD and other neurodevelopmental and mental health conditions, as well as ADHD and antidepressant medications. Demographic variables included ethnicity, socioeconomic deprivation and contact with social services. RESULTS: There were 16,458 individuals diagnosed with ADHD (20.3% females, ages 3-30 years), with a male-to-female ratio of 3.9:1. Higher ratios (4.8:1) were seen in individuals diagnosed younger (<12 years), with the lowest ratio (1.9:1) in those diagnosed as adults (>18). Males were younger at first recorded ADHD diagnosis (mean = 10.9 vs. 12.6 years), more likely to be prescribed ADHD medication and younger at diagnosis of co-occurring neurodevelopmental conditions. In contrast, females were more likely to receive a diagnosis of anxiety, depression or another mental health condition and to be prescribed antidepressant medications, prior to ADHD diagnosis. These sex differences were largely stable across demographic groups. CONCLUSIONS: This study adds to the evidence base that females with ADHD are experiencing later recognition and treatment of ADHD. The results indicate that this may be partly because of diagnostic overshadowing from other mental health conditions, such as anxiety and depression, or initial misdiagnosis. Further research and dissemination of findings to the public are needed to improve awareness, timely diagnosis and treatment of ADHD in females.

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Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with a rising prevalence worldwide. While genetic factors are significantly associated with the disorder, environmental factors are often speculated to contribute to its onset. The Middle East, exhibiting higher rates of ASD, also sees frequent consanguineous marriages, necessitating focused studies on potential etiological factors in the region. We report a unique case of a family with three children diagnosed with ASD. The parents, aged between 35 and 39 years at the birth of their first child, have no notable familial history of neurodevelopmental disorders. Interestingly, while both parents and two of the children had normal chromosomal patterns, one child displayed chromosomal abnormalities. This discrepancy raises questions about the interplay between genetics and external factors in the manifestation of ASD. The family's medical history, combined with the regional context of high ASD prevalence and consanguineous marriages, provides a compelling backdrop for the study. The presence of chromosomal abnormalities in only one child, despite no detectable genetic irregularities in parents or siblings, underscores the potential influence of environmental factors in the development of ASD. This case accentuates the importance of conducting in-depth genetic and environmental studies to unravel the intricate etiological web surrounding ASD in the Middle East.

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BACKGROUND: Autism spectrum disorder has been linked to a variety of organizational and developmental deviations in the brain. One such organizational difference involves hemispheric lateralization, which may be localized to language-relevant regions of the brain or distributed more broadly. METHODS: In the present study, we estimated brain hemispheric lateralization in autism based on each participant's unique functional neuroanatomy rather than relying on group-averaged data. Additionally, we explored potential relationships between the lateralization of the language network and behavioral phenotypes including verbal ability, language delay, and autism symptom severity. We hypothesized that differences in hemispheric asymmetries in autism would be limited to the language network, with the alternative hypothesis of pervasive differences in lateralization. We tested this and other hypotheses by employing a cross-sectional dataset of 118 individuals (48 autistic, 70 neurotypical). Using resting-state fMRI, we generated individual network parcellations and estimated network asymmetries using a surface area-based approach. A series of multiple regressions were then used to compare network asymmetries for eight significantly lateralized networks between groups. RESULTS: We found significant group differences in lateralization for the left-lateralized Language (d = -0.89), right-lateralized Salience/Ventral Attention-A (d = 0.55), and right-lateralized Control-B (d = 0.51) networks, with the direction of these group differences indicating less asymmetry in autistic males. These differences were robust across different datasets from the same participants. Furthermore, we found that language delay stratified language lateralization, with the greatest group differences in language lateralization occurring between autistic males with language delay and neurotypical individuals. CONCLUSIONS: These findings evidence a complex pattern of functional lateralization differences in autism, extending beyond the Language network to the Salience/Ventral Attention-A and Control-B networks, yet not encompassing all networks, indicating a selective divergence rather than a pervasive one. Moreover, we observed an association between Language network lateralization and language delay in autistic males.

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General anesthesia is fundamental in pediatric medical interventions, but its potential neurodevelopmental impact on children has raised concerns, necessitating a thorough investigation. This systematic review aimed to assess the association between pediatric anesthesia exposure and neurodevelopmental outcomes, focusing on dosage effects and identifying high-risk groups. The study involved an extensive literature search across PubMed, Medline, and Google Scholar, selecting 40 relevant studies from an initial pool of 2,000, based on inclusion criteria that focused on children under 18 years exposed to anesthesia, excluding those with major comorbidities or perioperative physiological insults. It was observed that while a single exposure to anesthesia had minimal impact on general neurodevelopment, repeated or prolonged exposures posed greater concerns. Despite these findings, the study identified gaps in certain areas like adaptive behavior and sensory cognition due to limited data. The conclusion drawn is that although the evidence on anesthesia-induced neurotoxicity in children remains inconclusive, the implications of pediatric anesthesia exposure are significant enough to warrant careful consideration by healthcare professionals, who should balance the procedural benefits against the risks. This study also calls for future research to standardize methodologies and employ consistent, validated neurodevelopmental measurement tools.

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Children and youth with neurological and/or neurodevelopmental conditions were at high risk for behavioral and mental health challenges during the COVID-19 pandemic. Positive and responsive parenting practices may be one way to prevent and manage potential difficulties in families. We aimed to identify whether positive parenting practices were associated with reduced behavioral concerns in children at neurological risk during the late stages and aftermath of the COVID-19 pandemic. In addition, we examined whether ongoing parental stress, anxiety, and depression impacted parenting practices during this time period. Families (N = 179) with children 4 to 15 years old (M = 7.11y, SD = 2.02) diagnosed with neurological (84.3%), neurodevelopmental (54.8%) or comorbid neurological and/or neurodevelopmental conditions (21.2%) were contacted to complete online questionnaires regarding demographics, parent stress, child behavior, COVID-19 conditions, and parenting practices. Multivariable linear regression (MLR) analyses examined the association between positive parenting practices and parenting competency measures with child behavioral outcomes, controlling for relevant covariates, including COVID-19 related stress. MLR were also run to determine whether parental mental health impacted parenting practices. More positive parenting practices predicted fewer child problem behaviors and lower intensity of problem behaviors. Similarly, a higher sense of satisfaction with parenting competence also predicted fewer child problem behaviors and lower intensity of problem behaviors. In addition, higher reported parental depression, anxiety, and stress significantly predicted fewer reported positive parenting practices. Findings points to the promising application of positive parenting interventions to support vulnerable families, as well as the need for parental mental health intervention to support parenting practices.

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BACKGROUND: Neurodevelopmental conditions such as intellectual disability (ID) and autism spectrum disorder (ASD) can stem from a broad array of inherited and de novo genetic differences, with marked physiological and behavioral impacts. We currently know little about the psychiatric phenotypes of rare genetic variants associated with ASD, despite heightened risk of psychiatric concerns in ASD more broadly. Understanding behavioral features of these variants can identify shared versus specific phenotypes across gene groups, facilitate mechanistic models, and provide prognostic insights to inform clinical practice. In this paper, we evaluate behavioral features within three gene groups associated with ID and ASD - ADNP, CHD8, and DYRK1A - with two aims: (1) characterize phenotypes across behavioral domains of anxiety, depression, ADHD, and challenging behavior; and (2) understand whether age and early developmental milestones are associated with later mental health outcomes. METHODS: Phenotypic data were obtained for youth with disruptive variants in ADNP, CHD8, or DYRK1A (N = 65, mean age = 8.7 years, 40% female) within a long-running, genetics-first study. Standardized caregiver-report measures of mental health features (anxiety, depression, attention-deficit/hyperactivity, oppositional behavior) and developmental history were extracted and analyzed for effects of gene group, age, and early developmental milestones on mental health features. RESULTS: Patterns of mental health features varied by group, with anxiety most prominent for CHD8, oppositional features overrepresented among ADNP, and attentional and depressive features most prominent for DYRK1A. For the full sample, age was positively associated with anxiety features, such that elevations in anxiety relative to same-age and same-sex peers may worsen with increasing age. Predictive utility of early developmental milestones was limited, with evidence of early language delays predicting greater difficulties across behavioral domains only for the CHD8 group. CONCLUSIONS: Despite shared associations with autism and intellectual disability, disruptive variants in ADNP, CHD8, and DYRK1A may yield variable psychiatric phenotypes among children and adolescents. With replication in larger samples over time, efforts such as these may contribute to improved clinical care for affected children and adolescents, allow for earlier identification of emerging mental health difficulties, and promote early intervention to alleviate concerns and improve quality of life.

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BACKGROUND: Gender clinic and single-item questionnaire-based data report increased co-occurrence of gender diversity and neurodevelopmental conditions. The nuances of these associations are under-studied. We used a transdiagnostic approach, combining categorical and dimensional characterization of neurodiversity, to further the understanding of its associations with gender diversity in identity and expression in children. METHODS: Data from 291 children (Autism N = 104, ADHD N = 104, Autism + ADHD N = 17, neurotypical N = 66) aged 4-12 years enrolled in the Province of Ontario Neurodevelopmental Network were analyzed. Gender diversity was measured multi-dimensionally using a well-validated parent-report instrument, the Gender Identity Questionnaire for Children (GIQC). We used gamma regression models to determine the significant correlates of gender diversity among age, puberty, sex-assigned-at-birth, categorical neurodevelopmental diagnoses, and dimensional neurodivergent traits (using the Social Communication Questionnaire and the Strengths and Weaknesses of ADHD Symptoms and Normal Behavior Rating Scales). Internalizing and externalizing problems were included as covariates. RESULTS: Neither a categorical diagnosis of autism nor ADHD significantly correlated with current GIQC-derived scores. Instead, higher early-childhood dimensional autistic social-communication traits correlated with higher current overall gender incongruence (as defined by GIQC-14 score). This correlation was potentially moderated by sex-assigned-at-birth: greater early-childhood autistic social-communication traits were associated with higher current overall gender incongruence in assigned-males-at-birth, but not assigned-females-at-birth. For fine-grained gender diversity domains, greater autistic restricted-repetitive behavior traits were associated with greater diversity in gender identity across sexes-assigned-at-birth; greater autistic social-communication traits were associated with lower stereotypical male expression across sexes-assigned-at-birth. CONCLUSIONS: Dimensional autistic traits, rather than ADHD traits or categorical neurodevelopmental diagnoses, were associated with gender diversity domains across neurodivergent and neurotypical children. The association between early-childhood autistic social-communication traits and overall current gender diversity was most evident in assigned-males-at-birth. Nuanced interrelationships between neurodivergence and gender diversity should be better understood to clarify developmental links and to offer tailored support for neurodivergent and gender-diverse populations.

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Neurodevelopmental disorders are traditionally characterised by a range of associated cognitive impairments in, for example, sensory processing, facial recognition, visual imagery, attention, and coordination. In this critical review, we propose a major reframing, highlighting the variety of unique cognitive strengths that people with neurodevelopmental differences can exhibit. These include enhanced visual perception, strong spatial, auditory, and semantic memory, superior empathy and theory of mind, along with higher levels of divergent thinking. Whilst we acknowledge the heterogeneity of cognitive profiles in neurodevelopmental conditions, we present a more encouraging and affirmative perspective of these groups, contrasting with the predominant, deficit-based position prevalent throughout both cognitive and neuropsychological research. In addition, we provide a theoretical basis and rationale for these cognitive strengths, arguing for the critical role of hereditability, behavioural adaptation, neuronal-recycling, and we draw on psychopharmacological and social explanations. We present a table of potential strengths across conditions and invite researchers to systematically investigate these in their future work. This should help reduce the stigma around neurodiversity, instead promoting greater social inclusion and significant societal benefits.

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Changes in the nervous system are related to a wide range of mental disorders, which include neurodevelopmental disorders (NDD) that are characterized by early onset mental conditions, such as schizophrenia and autism spectrum disorders and correlated conditions (ASD). Previous studies have shown distinct genetic components associated with diverse schizophrenia and ASD phenotypes, with mostly focused on rescuing neural phenotypes and brain activity, but alterations related to vision are overlooked. Thus, as the vision is composed by the eyes that itself represents a part of the brain, with the retina being formed by neurons and cells originating from the glia, genetic variations affecting the brain can also affect the vision. Here, we performed a critical systematic literature review to screen for all genetic variations in individuals presenting NDD with reported alterations in vision. Using these restricting criteria, we found 20 genes with distinct types of genetic variations, inherited or de novo, that includes SNP, SNV, deletion, insertion, duplication or indel. The variations occurring within protein coding regions have different impact on protein formation, such as missense, nonsense or frameshift. Moreover, a molecular analysis of the 20 genes found revealed that 17 shared a common protein-protein or genetic interaction network. Moreover, gene expression analysis in samples from the brain and other tissues indicates that 18 of the genes found are highly expressed in the brain and retina, indicating their potential role in adult vision phenotype. Finally, we only found 3 genes from our study described in standard public databanks of ophthalmogenetics, suggesting that the other 17 genes could be novel target for vision diseases.

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Family history (FH) of autism and ADHD is not often considered during the recruitment process of developmental studies, despite high recurrence rates. We looked at the rate of autism or ADHD amongst family members of young children (9 to 46 months) in three UK-based samples (N = 1055) recruited using different methods. The rate of FH-autism or FH-ADHD was 3%-9% for diagnosed cases. The rate was highest in the sample recruited through an online participant pool, which also consisted of the most socio-economically diverse families. Lower parental education and family income were associated with higher rates of FH-ADHD and lower parental education with increased FH-autism. Thus, recruitment strategies have a meaningful impact on neurodiversity and the conclusions and generalizations that can be drawn. Specifically, recruitment using crowdsourcing websites could create a sample that is more representative of the wider population, compared to those recruited through university-related volunteer databases and social media.

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Phonological difficulties have been identified as a core deficit in developmental dyslexia, yet everyday speech comprehension, which relies on phonological processing, is seemingly unaffected. This raises the question as to how dyslexic readers process spoken words to achieve normal word comprehension. Here we establish a link between neural correlates of lexical and sublexical processing in auditory words and behaviourally measured phonological deficits using magnetoencephalography (MEG). Spatiotemporally resolved cortical responses to phonological and lexico-semantic information were computed with the event-related regression technique (Hauk et al., 2009) and correlated with dyslexic and non-dyslexic subjects' phonological skills. We found that phonological deficits reduced cortical responses to both phonological and lexico-semantic information (phonological neighbours and word frequency). Individuals with lower phonological skills - independent of dyslexia diagnosis - showed weaker neural responses to phonological neighbourhood information in both hemispheres 200-500 ms after word onset and reduced sensitivity to written and spoken word frequency between 200 and 650 ms. Dyslexic readers showed weaker responses to written word frequency in particular compared to the control group, pointing towards an additional effect of print exposure on auditory word processing. Source space analysis localised phonological and lexico-semantic effect peaks to the left superior temporal gyrus, a key area that has been related to core deficits in dyslexia across a range of neuroimaging studies. The results provide comprehensive evidence that phonological deficits impact both sublexical and lexical stages of spoken word processing and that these deficits cannot be fully compensated through neural re-organization of lexical-distributional information at the single word level. Theoretical and practical implications for typical readers, dyslexic readers, and readers with developmental language disorder are discussed.

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