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1.
J Affect Disord ; 364: 212-220, 2024 Aug 10.
Artigo em Inglês | MEDLINE | ID: mdl-39134151

RESUMO

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.

2.
J Perioper Pract ; : 17504589241253487, 2024 Aug 06.
Artigo em Inglês | MEDLINE | ID: mdl-39108057

RESUMO

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.

3.
medRxiv ; 2024 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-39006433

RESUMO

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.

4.
JMIR Form Res ; 8: e54577, 2024 Jul 29.
Artigo em Inglês | MEDLINE | ID: mdl-39073858

RESUMO

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.

6.
Artigo em Inglês | MEDLINE | ID: mdl-38864317

RESUMO

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.

7.
Cureus ; 16(5): e60362, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38882979

RESUMO

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.

8.
J Neurodev Disord ; 16(1): 23, 2024 May 08.
Artigo em Inglês | MEDLINE | ID: mdl-38720286

RESUMO

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.


Assuntos
Encéfalo , Lateralidade Funcional , Imageamento por Ressonância Magnética , Humanos , Masculino , Lateralidade Funcional/fisiologia , Encéfalo/fisiopatologia , Encéfalo/diagnóstico por imagem , Adulto , Adulto Jovem , Estudos Transversais , Adolescente , Transtorno do Espectro Autista/fisiopatologia , Rede Nervosa/fisiopatologia , Rede Nervosa/diagnóstico por imagem , Transtorno Autístico/fisiopatologia , Criança , Idioma
9.
J Neurodev Disord ; 16(1): 15, 2024 Apr 15.
Artigo em Inglês | MEDLINE | ID: mdl-38622540

RESUMO

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.


Assuntos
Transtorno do Espectro Autista , Deficiência Intelectual , Transtornos do Neurodesenvolvimento , Adolescente , Criança , Feminino , Humanos , Masculino , Transtorno do Espectro Autista/complicações , Proteínas de Ligação a DNA/genética , Proteínas de Homeodomínio/genética , Deficiência Intelectual/genética , Deficiência Intelectual/complicações , Saúde Mental , Proteínas do Tecido Nervoso/genética , Transtornos do Neurodesenvolvimento/genética , Transtornos do Neurodesenvolvimento/complicações , Qualidade de Vida , Fatores de Transcrição/genética
10.
Front Psychol ; 15: 1328476, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38650902

RESUMO

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.

11.
Cureus ; 16(3): e55952, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38601369

RESUMO

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.

12.
Neuropsychologia ; 197: 108850, 2024 05 03.
Artigo em Inglês | MEDLINE | ID: mdl-38467371

RESUMO

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.


Assuntos
Transtorno do Espectro Autista , Dislexia , Transtornos do Neurodesenvolvimento , Humanos , Transtorno do Espectro Autista/psicologia , Percepção Visual , Cognição
13.
J Child Psychol Psychiatry ; 65(9): 1223-1236, 2024 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-38433429

RESUMO

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.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade , Humanos , Masculino , Feminino , Pré-Escolar , Criança , Transtorno do Deficit de Atenção com Hiperatividade/fisiopatologia , Transtorno do Deficit de Atenção com Hiperatividade/epidemiologia , Transtorno do Espectro Autista/fisiopatologia , Transtorno Autístico/fisiopatologia , Identidade de Gênero , Transtornos do Neurodesenvolvimento/epidemiologia
14.
Gene ; 908: 148246, 2024 May 25.
Artigo em Inglês | MEDLINE | ID: mdl-38325665

RESUMO

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.


Assuntos
Redes Reguladoras de Genes , Variação Genética , Transtornos do Neurodesenvolvimento , Humanos , Transtornos do Neurodesenvolvimento/genética , Transtorno do Espectro Autista/genética , Encéfalo/metabolismo , Encéfalo/patologia , Predisposição Genética para Doença
16.
J Clin Med ; 12(24)2023 Dec 18.
Artigo em Inglês | MEDLINE | ID: mdl-38137832

RESUMO

INTRODUCTION: Moderate-late preterm infants constitute the largest segment of preterm births globally. While previously considered to have a low neurological risk, recent research has uncovered an elevated incidence of neurodevelopmental conditions in this group. This study aimed to assess the relationship between the general movement assessment and birth-related risk factor-based tools in moderate-late preterm infants. METHODS: A prospective cohort study of 65 moderate-late preterm infants in a neonatal intensive care unit involved the evaluation of general movements, the Nursery Neurobiologic Risk Score, and the Perinatal Risk Inventory. Associations were analyzed using Fisher's exact test, Spearman's correlation was used for ordinal variables, and backward stepwise logistic regression was used to identify predictor variables for the assessments. RESULTS: The findings indicated a high prevalence of normal (41%) and poor (52%) repertoire patterns during the writhing period. While no significant associations were found between the three assessments, a slight approximation emerged between dysmorphic traits and patterns (p = 0.053). Furthermore, an extended period of ventilation correlated with a higher likelihood of developing a cramped synchronized pattern and there was a correlation between both risk factor-based tools (p < 0.001). CONCLUSIONS: This research enhances our understanding of the early impact on general movement assessments in moderate-late preterm infants. While no clear relationship emerged between general movement assessment and risk factor-based tools, there was a subtle connection noted with dysmorphic traits. A longer ventilation duration was linked to a higher risk of developing cramped synchronized patterns.

17.
Open Res Eur ; 3: 182, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-39005631

RESUMO

Background: Data sharing in developmental science is increasingly encouraged, supported by funder and publisher mandates for open data access. Data sharing can accelerate discovery, link researchers with high quality analytic expertise to researchers with large datasets and democratise the research landscape to enable researchers with limited funding to access large sample sizes. However, there are also significant privacy and security concerns, in addition to conceptual and ethical considerations. These are particularly acute for developmental science, where child participants cannot consent themselves. As we move forward into a new era of data openness, it is essential that we adequately represent the views of stakeholder communities in designing data sharing efforts. Methods: We conducted a comprehensive survey of the opinions of 195 parents on data sharing in developmental science. Survey themes included how widely parents are willing to share their child's data, which type of organisations they would share the data with and the type of consent they would be comfortable providing. Results: Results showed that parents were generally supportive of curated, but not open, data sharing. In addition to individual privacy and security concerns, more altruistic considerations around the purpose of research were important. Parents overwhelmingly supported nuanced consenting models in which preferences for particular types of data sharing could be changed over time. This model is different to that implemented in the vast majority of developmental science research and is contrary to many funder or publisher mandates. Conclusions: The field should look to create shared repositories that implement features such as dynamic consent and mechanisms for curated sharing that allow consideration of the scientific questions addressed. Better communication and outreach are required to build trust in data sharing, and advanced analytic methods will be required to understand the impact of selective sharing on reproducibility and representativeness of research datasets.

18.
bioRxiv ; 2023 Dec 18.
Artigo em Inglês | MEDLINE | ID: mdl-38187671

RESUMO

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 individuals. 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 individuals with language delay and neurotypical individuals. Limitations: The generalizability of our findings is restricted due to the male-only sample and greater representation of individuals with high verbal and cognitive performance. 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. Furthermore, a differential relationship was identified between Language network lateralization and specific symptom profiles (namely, language delay) of autism.

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