Pubmed du 18/01/23

Pubmed du jour

1. Banarjee C, Tao Y, Fasano RM, Song C, Vitale L, Wang J, Shyu ML, Perry LK, Messinger DS. Objective quantification of homophily in children with and without disabilities in naturalistic contexts. Scientific reports. 2023; 13(1): 903.

Homophily, the tendency for individuals to preferentially interact with others similar to themselves is typically documented via self-report and, for children, adult report. Few studies have investigated homophily directly using objective measures of social movement. We quantified homophily in children with developmental disabilities (DD) and typical development (TD) using objective measures of position/orientation in preschool inclusion classrooms, designed to promote interaction between these groups of children. Objective measurements were collected using ultra-wideband radio-frequency tracking to determine social approach and social contact, measures of social movement and interaction. Observations of 77 preschoolers (47 with DD, and 30 TD) were conducted in eight inclusion classrooms on a total of 26 days. We compared DD and TD groups with respect to how children approached and shared time in social contact with peers using mixed-effects models. Children in concordant dyads (DD-DD and TD-TD) both moved toward each other at higher velocities and spent greater time in social contact than discordant dyads (DD-TD), evidencing homophily. DD-DD dyads spent less time in social contact than TD-TD dyads but were comparable to TD-TD dyads in their social approach velocities. Children’s preference for similar peers appears to be a pervasive feature of their naturalistic interactions.

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2. Chen WX, Chen YR, Peng MZ, Liu X, Cai YN, Huang ZF, Yang SY, Huang JY, Wang RH, Yi P, Liu L. Plasma Amino Acid Profile in Children with Autism Spectrum Disorder in Southern China: Analysis of 110 Cases. Journal of autism and developmental disorders. 2023.

To retrospectively explore the characteristics of plasma amino acids (PAAs) in children with autism spectrum disorder and their clinical association via case-control study. A total of 110 autistic and 55 healthy children were recruited from 2014 to 2018. The clinical phenotypes included severity of autism, cognition, adaptability, and regression. Compared with the control group, autistic children had significantly elevated glutamate, γ-Amino-n-butyric acid, glutamine, sarcosine, δ-aminolevulinic acid, glycine and citrulline. In contrast, their plasma level of ethanolamine, phenylalanine, tryptophan, homocysteine, pyroglutamic acid, hydroxyproline, ornithine, histidine, lysine, and glutathione were significantly lower. Elevated neuroactive amino acids (glutamate) and decreased essential amino acids were mostly distinct characteristics of PAAs of autistic children. Increased level of tryptophan might be associated with severity of autism.

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3. Coleman J, Thompson T, Riley K, Allen K, Michalak C, Shields R, Berry-Kravis E, Hessl D. The comparison of expressed emotion of parents of individuals with fragile X syndrome to other intellectual disabilities. Journal of applied research in intellectual disabilities : JARID. 2023.

BACKGROUND: Parenting children and young adults with intellectual disabilities, including individuals with fragile X syndrome and Down syndrome, is challenging, joyful, and complicated. Exploring how parents talk about their children, and the quality of the parent/child relationship can provide insight into the home environment and interactional patterns of the family. METHOD: Expressed emotion (EE) is a measurement of a family’s emotional climate based on a parent or caregiver’s report of warmth, emotional overinvolvement, hostility, and criticism. The purpose of this study was to describe EE for a sample of parents of individuals with intellectual disabilities and to determine any differences in EE amongst individuals within subgroups. Based on previous research about fragile X syndrome and family systems, we hypothesized that there would be significant differences between the disability groups (higher EE in families with children/young adults with fragile X syndrome). RESULTS: Results showed relatively high proportions of EE across groups of individuals with intellectual disabilities, however, there were no significant differences between the subgroups. Null findings suggest that differences in EE may not relate directly to a child’s specific genetic condition. Rather, increased EE in caregiver populations may simply reflect well-documented stressors related to stigma, caregiver burden, and limited community supports. Critical statements were infrequent, however, over half of the participants reported dissatisfaction with their situation, and many were categorized as having emotional overinvolvement, as measured by frequent statements of intense worry and self-sacrifice. CONCLUSION: Findings point to potential utility in family-level interventions focused on providing structured caregiver therapy to manage excessive worry and grief related to a diagnosis of intellectual disability, and respite care to encourage caregiver independence and pursuit of personal care.

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4. Davut G, Onur D, Hüseyin G. Autistic features and executive functions in first episode psychosis: Associations with functionality and quality of life. Early intervention in psychiatry. 2023.

AIM: The present study aimed at investigating the relationships between autistic features and cognitive deficits, functionality and quality of life in first episode psychosis (FEP) patients. METHODS: Sixty FEP patients [mean age (SD) = 32.53 (10.74), n = 23 female, n = 37 male] were enrolled in this cross-sectional study. Data was collected using a sociodemographic and clinical data form, the Positive and Negative Syndrome Scale (PANSS), the PANSS Autism Severity Score (PAUSS), the Personal and Social Performance Scale (PSP), the Frontal Assessment Battery (FAB), and the World Health Organization Quality of Life Scale Short Form in Turkish Version (WHOQOL-BREF TR). RESULTS: Autistic symptom severity was found to be higher in males than females, and higher in patients with a family history of psychotic disorder. An inverse relationship was found between the duration of education and the severity of autistic symptoms. While there was an inverse relationship between autistic symptom severity and executive functions and functionality, no significant correlation was found with quality of life. Negative symptom severity was a predictor of executive functions and functionality. No significant difference was observed between autistic and psychotic domains which were related to executive functions. CONCLUSIONS: Our study is the first to examine the relationship between autistic/psychotic symptoms and executive functions and functionality in patients with FEP. The results show that autistic symptoms are associated with worse social and personal functioning and worse executive functions in patients with FEP. Longitudinal follow-up studies with larger samples are required to determine the direction of the relations.

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5. Hsu CY. [Transgender and Gender Dysphoria: Viewpoints on Clinical Care and Psychological Stress]. Hu li za zhi The journal of nursing. 2023; 70(1): 17-22.

Gender identity is a topic of growing interest in mental health research. People with non-conforming gender identity are prone to suffer from stigmatization and bullying, and often present with psychiatric issues. Transgender denotes the broad spectrum of individuals who identify differently from their assigned gender. Some transgender people meet the requirements of the « gender dysphoria » (GD) diagnosis in the DSM-5-TR (diagnostic and statistical manual of mental disorders, fifth edition, text revision). When these individuals seek or undergo a social transition from male to female or female to male, which in many, but not all, cases also involves a somatic transition by cross-sex hormone treatment and genital (gender affirming) surgery, they are categorized as « transsexual ». There are two requirements for transgender identity recognition in Taiwan: two psychiatrists’ certificates of GD and the surgical removal of external and internal genitalia. In the DSM-5-TR, GD, as a general descriptive term, refers to the distress that may accompany the incongruence between one’s experienced or expressed gender and one’s assigned gender. GD manifests itself differently in different age groups. Several developmental-stage-dependent hormonal treatment options are available for GD. Puberty may exacerbate dysphoria due to the development of unwanted secondary sexual characteristics, which may be suppressed using a gonadotropin-releasing hormone agonist. On the other hand, gender-affirming hormones (aka cross-sex hormonal therapy) allow individuals to actively masculinize or feminize their physical appearance to become more consistent with their gender identity. In addition to biological treatment, psychosocial intervention is another key point for transgender people. These individuals experience higher risks of violence victimization, suicide, and sexual violence than their cisgender peers. Several studies have also indicated the presence of an association between autism spectrum disorder and GD. Mental health professionals should address these issues in practice and seek further understanding from transgender people.

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6. Kung KTF. Autistic Traits, Gender Minority Stress, and Mental Health in Transgender and Non-Binary Adults. Journal of autism and developmental disorders. 2023.

The present study investigated the relation between autistic traits and gender minority stress and the relative importance of autistic traits and gender minority stress in predicting mental health outcomes in gender minority adults. An online survey was completed by 90 transgender women, 72 transgender men, 48 non-binary individuals assigned male at birth (AMAB), and 98 non-binary individuals assigned female at birth (AFAB). Autistic traits positively correlated with internalised transphobia in the non-binary groups. In general, higher autistic traits and gender minority stress correlated with poorer mental health outcomes. After controlling for gender minority stress, autistic traits accounted for additional variance of suicidality across gender minority groups, anxiety symptoms in the non-binary groups, and all mental health outcomes in non-binary AFAB.

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7. LaSalle JM. Epigenomic signatures reveal mechanistic clues and predictive markers for autism spectrum disorder. Molecular psychiatry. 2023.

Autism spectrum disorder (ASD) comprises a heterogeneous group of neurodevelopmental outcomes in children with a commonality in deficits in social communication and language combined with repetitive behaviors and interests. The etiology of ASD is heterogeneous, as several hundred genes have been implicated as well as multiple in utero environmental exposures. Over the past two decades, epigenetic investigations, including DNA methylation, have emerged as a novel way to capture the complex interface of multivariate ASD etiologies. More recently, epigenome-wide association studies using human brain and surrogate accessible tissues have revealed some convergent genes that are epigenetically altered in ASD, many of which overlap with known genetic risk factors. Unlike transcriptomes, epigenomic signatures defined by DNA methylation from surrogate tissues such as placenta and cord blood can reflect past differences in fetal brain gene transcription, transcription factor binding, and chromatin. For example, the discovery of NHIP (neuronal hypoxia inducible, placenta associated) through an epigenome-wide association in placenta, identified a common genetic risk for ASD that was modified by prenatal vitamin use. While epigenomic signatures are distinct between different genetic syndromic causes of ASD, bivalent chromatin and some convergent gene pathways are consistently epigenetically altered in both syndromic and idiopathic ASD, as well as some environmental exposures. Together, these epigenomic signatures hold promising clues towards improved early prediction and prevention of ASD as well genes and gene pathways to target for pharmacological interventions. Future advancements in single cell and multi-omic technologies, machine learning, as well as non-invasive screening of epigenomic signatures during pregnancy or newborn periods are expected to continue to impact the translatability of the recent discoveries in epigenomics to precision public health.

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8. Laverty C, Agar G, Sinclair-Burton L, Oliver C, Moss J, Nelson L, Richards C. The 10-year trajectory of aggressive behaviours in autistic individuals. Journal of intellectual disability research : JIDR. 2023.

BACKGROUND: Aggressive behaviours are common in people with neurodevelopmental conditions, contributing to poorer quality of life and placement breakdown. However, there is limited empirical research documenting the prevalence and persistence of aggressive behaviours in autism. In this longitudinal study, aggressive behaviours were investigated in a sample of autistic individuals over 10 years. METHODS: Caregivers of autistic individuals, both with and without intellectual disability, completed questionnaires relating to the presence of aggressive behaviours at T1 [N = 229, mean age in years 11.8, standard deviation (SD) 5.9], T2 (T1 + 3 years, N = 81, mean age in years 15.1, SD 5.9) and T3 (T1 + 10 years, N = 54, mean age in years 24.5, SD 8.1). Analyses examined the presence and persistence of aggressive behaviours and the predictive value of established correlates of aggression. RESULTS: Aggressive behaviours were common at baseline (61.6%) but only persistent in 30% of the sample over 10 years. Higher composite scores of overactivity and impulsivity at T1 were significantly associated with the persistence of aggressive behaviours at T2 (P = 0.027) and T3 (P = 0.012) with medium effect size. CONCLUSIONS: Aggressive behaviours are common in autism, but reduce with age. Behavioural correlates of attention deficit hyperactivity disorder (ADHD) predict the presence and persistence of aggressive behaviour and as such may be useful clinical indicators to direct proactive intervention resources to ameliorate aggressive behaviours.

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9. Manopetchkasem A, Srimaneekarn N, Leelataweewud P, Smutkeeree A. Influence of past advanced behavior guidance experience on parental acceptance for autistic individuals in the dental setting. BMC oral health. 2023; 23(1): 23.

BACKGROUND: Autism is a lifelong neurodevelopmental disorder that poses challenges during dental treatment. Advanced behavior guidance techniques (BGTs) have been used to provide dental care for autistic people who have specific characteristics and complex dental treatment. This study was conducted to evaluate parental acceptance and analyze parents’ opinions of advanced BGTs during dental treatment in autistic people. METHODS: This cross-sectional study was conducted on 141 parents of autistic people from the Mahidol Dental Hospital and the Autism online community. Informed consent was obtained before enrolling participants in the study. All parents were asked to rate their acceptance after watching VDO clips: passive restraint by device (PRBD), oral sedation (OS), and general anesthesia (GA) to evaluate parental acceptance of advanced BGTs through an online questionnaire survey. The online questionnaire included a visual analog scale (VAS) and open-ended questions to collect their opinions on each advanced BGT. Participants were categorized into two subgroups as follows: 81 in the « Experience group » and 60 in the « No experience group » according to their autistic people’ advanced BGT experience. Friedman’s two-way analysis of variance and the Mann-Whitney U test were used for statistical analyses. Open-ended questions were analyzed using quantitative content analysis. RESULTS: PRBD was ranked the highest, followed by GA and OS. Parents in the « Experience group » rated significantly higher acceptance of their BGT experience than parents in the « No experience group » in all the three advanced BGTs. CONCLUSIONS: All advanced BGTs were particularly accepted in this study. Previous experience of advanced BGTs had an influence on parental acceptance. Parents commented on their opinions toward each advanced BGT with a variety of perspectives. TRIAL REGISTRATION: The protocol was approved by the ethical committee of the Faculty of Dentistry/Faculty of Pharmacy, Mahidol University (COA.No.MU-DT/PY-IRB 2021/022.1702) and was registered with Thai Clinical Trials Registry (TCTR20220521001).

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10. Nielsen TC, Nassar N, Boulton KA, Guastella AJ, Lain SJ. Estimating the Prevalence of Autism Spectrum Disorder in New South Wales, Australia: A Data Linkage Study of Three Routinely Collected Datasets. Journal of autism and developmental disorders. 2023.

Routinely collected data help estimate the prevalence of autism spectrum disorder (ASD) in jurisdictions without active autism surveillance. We created a population-based cohort of 1,211,834 children born in 2002-2015 in New South Wales, Australia using data linkage. Children with ASD were identified in three datasets – disability services, hospital admissions, and ambulatory mental health data. The prevalence of ASD in the cohort was 1.3% by age 12 and prevalence at age 6 increased an average of 4.1% per year (95% Confidence Interval, 3.3%, 4.8%). Most children with ASD were identified in disability services data (87%), although data linkage identified 1,711 additional cases that were more likely female, older at first contact, and living in major cities and less disadvantaged areas.

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11. Octavia A, Sitthisettapong T, Dewanto I. Structural-visual approach for dental examination in children with autism spectrum disorder: A systematic review. Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry. 2023.

INTRODUCTION: Conducting Dental examination in children with autism is challenging due to the limitation in cooperativeness that is caused by impairment of communication, social interaction, and sensory sensitivities. AIMS: This study aims to provide evidence base for the structural-visual approach in reducing uncooperativeness behavior to dental care in children with autism spectrum disorder (ASD). METHODS: Searches were conducted in the electronic databases PubMed, PsycINFO, and Cochrane from inception to October 2021 (CRD42022383409). Randomized controlled trials (RCTs), non-RCTs, and pre/post-test and qualitative studies that conducting visual pedagogy and visual learning methods were included. The quality of evidence was assessed with Cochrane Collaboration’s Risk of Bias Tool for RCTs, Risk of Bias in Non-randomized Studies-of Interventions (ROBINS-I) for non-RCTs, and Critical Appraisal Skill Program (CASP) for qualitative studies. RESULTS: The initial search identified 270 studies, and 256 remained after removing duplicates. After screening titles and abstracts, 62 studies were remained for full-text assessed, and finally 13 eligible studies were selected for reviews. The studies analyzed various structural-visual interventions, participants, study design, countries, and outcomes. CONCLUSION: The structural-visual approach could reduce uncooperative behavior in children with ASD. Future study should investigate the wide range of age and varied behavior approach as the evidence-based of the clinical management.

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12. Qian J, Guan X, Xie B, Xu C, Niu J, Tang X, Li CH, Colecraft HM, Jaenisch R, Liu XS. Multiplex epigenome editing of MECP2 to rescue Rett syndrome neurons. Science translational medicine. 2023; 15(679): eadd4666.

Rett syndrome (RTT) is an X-linked neurodevelopmental disorder caused by loss-of-function heterozygous mutations of methyl CpG-binding protein 2 (MECP2) on the X chromosome in young females. Reactivation of the silent wild-type MECP2 allele from the inactive X chromosome (Xi) represents a promising therapeutic opportunity for female patients with RTT. Here, we applied a multiplex epigenome editing approach to reactivate MECP2 from Xi in RTT human embryonic stem cells (hESCs) and derived neurons. Demethylation of the MECP2 promoter by dCas9-Tet1 with target single-guide RNA reactivated MECP2 from Xi in RTT hESCs without detectable off-target effects at the transcriptional level. Neurons derived from methylation-edited RTT hESCs maintained MECP2 reactivation and reversed the smaller soma size and electrophysiological abnormalities, two hallmarks of RTT. In RTT neurons, insulation of the methylation-edited MECP2 locus by dCpf1-CTCF (a catalytically dead Cpf1 fused with CCCTC-binding factor) with target CRISPR RNA enhanced MECP2 reactivation and rescued RTT-related neuronal defects, providing a proof-of-concept study for epigenome editing to treat RTT and potentially other dominant X-linked diseases.

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13. Wallis KE, Adebajo T, Bennett AE, Drye M, Gerdes M, Miller JS, Guthrie W. Short report: Prevalence of autism spectrum disorder in a large pediatric primary care network. Autism : the international journal of research and practice. 2023: 13623613221147396.

Historically, children from non-Hispanic Black and Hispanic backgrounds, those from lower-income families, and girls are less likely to be diagnosed with autism spectrum disorder. Under-identification among these historically and contemporaneously marginalized groups can limit their access to early, autism spectrum disorder-specific interventions, which can have long-term negative impacts. Recent data suggest that some of these trends may be narrowing, or even reversing. Using electronic health record data, we calculated autism spectrum disorder prevalence rates and age of first documented diagnosis across socio-demographic groups. Our cohort included children seen at young ages (when eligible for screening in early childhood) and again at least after 4 years of age in a large primary care network. We found that autism spectrum disorder prevalence was unexpectedly higher among Asian children, non-Hispanic Black children, children with higher Social Vulnerability Index scores (a measure of socio-economic risk at the neighborhood level), and children who received care in urban primary care sites. We did not find differences in the age at which autism spectrum disorder diagnoses were documented in children’s records across these groups. Receiving primary care at an urban site (regardless of location of specialty care) appeared to account for most other socio-demographic differences in autism spectrum disorder prevalence rates, except among Asian children, who remained more likely to be diagnosed with autism spectrum disorder after controlling for other factors. We must continue to better understand the process by which children with autism spectrum disorder from traditionally under-identified and under-served backgrounds come to be recognized, to continue to improve the equity of care.

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