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Brain and Behavior Jul 2024
Topics: Humans; Autistic Disorder; Quality of Life
PubMed: 38945821
DOI: 10.1002/brb3.3572 -
Neuroscience and Biobehavioral Reviews Jun 2024Research has indicated unique challenges in audiovisual integration of speech among autistic individuals, although methodological differences have led to divergent... (Review)
Review
Research has indicated unique challenges in audiovisual integration of speech among autistic individuals, although methodological differences have led to divergent findings. We conducted a systematic literature search to identify studies that measured audiovisual speech integration among both autistic and non-autistic individuals. Across the 18 identified studies (combined N = 952), autistic individuals showed impaired audiovisual integration compared to their non-autistic peers (g = 0.69, 95% CI [0.53, 0.85], p <.001). This difference was not found to be influenced by participants' mean ages, studies' sample sizes, risk-of-bias scores, or paradigms investigated. However, a subgroup analysis suggested that child studies may show larger between-group differences than adult ones. The prevailing pattern of impaired audiovisual speech integration in autism may have cascading effects on communicative and social behavior. However, small samples and inconsistency in design/analysis translated into considerable heterogeneity in findings and opacity regarding the influence of underlying unisensory and attentional factors. We recommend three key directions for future research: larger samples, more research with adults, and standardization of methodology and analytical approaches.
PubMed: 38945419
DOI: 10.1016/j.neubiorev.2024.105787 -
Journal of Mental Health (Abingdon,... Jun 2024Personal recovery is operationalized in the CHIME framework (connectedness, hope, identity, meaning in life, and empowerment) of recovery processes. CHIME was initially...
BACKGROUND
Personal recovery is operationalized in the CHIME framework (connectedness, hope, identity, meaning in life, and empowerment) of recovery processes. CHIME was initially developed through analysis of experiences of people mainly with psychosis, but it might also be valid for investigating recovery in mood-related, autism and other diagnoses.
AIMS
To examine whether personal recovery is transdiagnostic by studying narrative experiences in several diagnostic groups.
METHODS
Thirty recovery narratives, retrieved from "Psychiatry Story Bank" (PSB) in the Netherlands, were analyzed by three coders using CHIME as a deductive framework. New codes were assigned using an inductive approach and member checks were performed after consensus was reached.
RESULTS
All five CHIME dimensions were richly reported in the narratives, independent of diagnosis. Seven new domains were identified, such as "acknowledgement by diagnosis" and "gaining self-insight". These new domains were evaluated to fit well as subdomains within the original CHIME framework. On average, 54.2% of all narrative content was classified as experienced difficulties.
CONCLUSIONS
Recovery stories from different diagnostic perspectives fit well into the CHIME framework, implying that personal recovery is a transdiagnostic concept. Difficulties should not be ignored in the context of personal recovery based on its substantial presence in the recovery narratives.
PubMed: 38945156
DOI: 10.1080/09638237.2024.2361225 -
Pediatric Neurology May 2024Despite research demonstrating sleep disturbance in children with Tourette syndrome (TS), few studies have examined bedtime regularity and sleep sufficiency, two...
BACKGROUND
Despite research demonstrating sleep disturbance in children with Tourette syndrome (TS), few studies have examined bedtime regularity and sleep sufficiency, two important sleep health dimensions. Therefore, this study examined bedtime regularity and sleep sufficiency in children with TS relative to matched healthy control subjects, and its associated demographic, clinical, and behavioral factors.
METHODS
Participants were 384 parents or caregivers of children aged three to 17 years, including 192 with current TS and 192 matched healthy control subjects drawn from the 2020-2021 cycle of the National Survey of Children's Health. Parents completed questions assessing demographic (i.e., age, race, sex), clinical (i.e., attention-deficit/hyperactivity disorder [ADHD], autism spectrum disorder, anxiety, depression, tic severity, behavioral or conduct problems, ADHD medication, health condition-related impairment), and behavioral (i.e., screen time) characteristics. Mann-Whitney U test and chi-square test of independence were performed to compare groups on bedtime regularity and sleep sufficiency, respectively. Ordinal regression and binary logistic regression without and with backward elimination were performed to evaluate indicators of bedtime regularity and sleep sufficiency, respectively, in children with TS.
RESULTS
Children with current TS had significantly poorer bedtime regularity, but not sleep sufficiency, relative to matched healthy control subjects. In children with TS, anxiety and two or more hours of daily screen time were associated with higher likelihood of poor bedtime regularity. Autism was associated with lower likelihood of insufficient sleep, and depression was associated with increased likelihood of insufficient sleep.
CONCLUSIONS
Findings put forth screen time, anxiety, and depression as intervention targets to optimize sleep health in children with TS.
PubMed: 38945036
DOI: 10.1016/j.pediatrneurol.2024.05.001 -
Schizophrenia Research Jun 2024Though categorized as separate illnesses, schizophrenia and autism are known to exhibit shared characteristics. This study explored the distinctions in clinical,...
Though categorized as separate illnesses, schizophrenia and autism are known to exhibit shared characteristics. This study explored the distinctions in clinical, cognitive, and functional characteristics among individuals with recent-onset psychosis, considering the severity of their autistic symptoms, involving longitudinal examinations. We analyzed 671 patients with recent-onset psychosis from Korean Early Psychosis Cohort Study (KEPS), and used the PANSS Autism Severity Score (PAUSS) to categorize patient into 'autistic', 'moderate', and 'non-autistic' groups. The autistic group had the highest rate of schizophrenia diagnosis, and the lowest incidence of comorbid psychiatric disorders. Schizophrenia diagnosis predicted membership of the autistic group. More severe autistic symptoms correlated with worse overall symptoms and functional outcomes, which significantly predicted membership of the autistic group. Cognitive impairments and emotional recognition difficulties increased with the severity of autistic symptoms. 2-year longitudinal assessments demonstrated that group differences in autistic features and overall symptoms, and functional outcomes remained consistent, and membership of the autistic group significantly predicted symptomatic remission and functional recovery. In conclusion, the presence of autistic symptoms has a significant impact on the overall symptomatology and functional capabilities. They are enduring attributes rather than temporary state variables, and serve as a significant predictor for both symptomatic and functional recovery.
PubMed: 38944977
DOI: 10.1016/j.schres.2024.06.009 -
The International Journal of... Jun 2024The human body is commonly exposed to bisphenol A (BPA), which is widely used in consumer and industrial products. BPA is an endocrine-disrupting chemical that has...
The human body is commonly exposed to bisphenol A (BPA), which is widely used in consumer and industrial products. BPA is an endocrine-disrupting chemical that has adverse effects on human health. In particular, many studies have shown that BPA can cause various neurological disorders by affecting brain development and neural function during prenatal, infancy, childhood, and adulthood exposure. In this review, we discussed the correlation between BPA and neurological disorders based on molecular cell biology, neurophysiology, and behavioral studies of the effects of BPA on brain development and function. Recent studies, both animal and epidemiological, strongly indicate that BPA significantly impacts brain development and function. It hinders neural processes, such as proliferation, migration, and differentiation during development, affecting synaptic formation and activity. As a result, BPA is implicated in neurodevelopmental and neuropsychiatric disorders like autism spectrum disorder (ASD), attention-deficit hyperactivity disorder (ADHD), and schizophrenia.
PubMed: 38944234
DOI: 10.1016/j.biocel.2024.106614 -
Neuroscience and Biobehavioral Reviews Jun 2024Cognitive challenges and brain structure variations are common in autism spectrum disorder (ASD) but are rarely explored in middle-to-old aged autistic adults. Cognitive... (Review)
Review
Cognitive challenges and brain structure variations are common in autism spectrum disorder (ASD) but are rarely explored in middle-to-old aged autistic adults. Cognitive deficits that overlap between young autistic individuals and elderlies with dementia raise an important question: does compromised cognitive ability and brain structure during early development drive autistic adults to be more vulnerable to pathological aging conditions, or does it protect them from further decline? To answer this question, we have synthesized current theoretical models of aging in ASD and conducted a systematic literature review (Jan 1, 1980 - Feb 29, 2024) and meta-analysis to summarize empirical studies on cognitive and brain deviations in middle-to-old aged autistic adults. We explored findings that support different aging theories in ASD and addressed study limitations and future directions. This review sheds light on the poorly understood consequences of aging question raised by the autism community to pave the way for future studies to identify sensitive and reliable measures that best predict the onset, progression, and prognosis of pathological aging in ASD.
PubMed: 38944227
DOI: 10.1016/j.neubiorev.2024.105782 -
Social Science & Medicine (1982) Jun 2024While parents' and professionals' perceptions regarding children with autism spectrum disorder (ASD) have been studied extensively, limited data regarding the...
INTRODUCTION
While parents' and professionals' perceptions regarding children with autism spectrum disorder (ASD) have been studied extensively, limited data regarding the perspectives of children with ASD on their needs and the challenges they face are available. The study aimed to examine how children with ASD understand their condition and the aims of the interventions they undergo.
METHODS
Nineteen children and adolescents (ages 5.7-14.2 years) formally diagnosed with ASD, with borderline to high intelligence (range 70-140), and able to converse verbally were interviewed in person at a child development clinic. A qualitative approach was used to capture children's perceptions of their strengths and challenges and their understanding of a novel ASD treatment. The interview included direct and projective open-ended questions on each topic. Interpretive content analysis was used to evaluate the children's answers. Medical data were extracted from medical records. The children's parents completed questionnaires on their children's disability levels, awareness of ASD diagnosis, and sociodemographic details.
FINDINGS
Children spoke of their embodied sensations and feelings and discussed "normality" vs. "disability." They varied in their awareness of their diagnosis/symptoms, and only one boy named his diagnosis and described its consequences in detail. Most children lacked an understanding of the educational and therapeutic aspects of the goals set for them.
DISCUSSION AND CONCLUSIONS
Children with ASD are aware of their unique emotional and behavioral challenges. Nevertheless, they are frequently excluded from the process of patient information provision and lack an understanding of the goals of interventions. Findings suggest the need to explore developmentally and emotionally adaptive ways to involve children with ASD in discussions of their condition and possible interventions.
PubMed: 38943777
DOI: 10.1016/j.socscimed.2024.117066 -
Brain : a Journal of Neurology Jun 2024The histone methyltransferase ASH1L plays a crucial role in regulating gene expression across various organ systems during development, yet its role in brain development...
The histone methyltransferase ASH1L plays a crucial role in regulating gene expression across various organ systems during development, yet its role in brain development remains largely unexplored. Over 130 individuals with autism harbour heterozygous loss-of-function ASH1L variants, and population studies confirm it as a high-risk autism gene. Previous studies on Ash1 l deficient mice have reported autistic-like behaviours and provided insights into the underlying neuropathophysiology. In this study, we used mice with a cre-inducible deletion of Ash1 l exon 4, which results in a frame shift and premature stop codon (p.V1693Afs*2). Our investigation evaluated the impact of Ash1 l loss-of-function on survival and craniofacial skeletal development. Using a tamoxifen-inducible cre strain, we targeted Ash1 l knockout early in cortical development (Emx1-Cre-ERT2; e10.5). Immunohistochemistry was utilized to assess cortical lamination, while EdU incorporation aided in birthdating cortical neurons. Additionally, single-cell RNA sequencing was employed to compare cortical cell populations and identify genes with differential expression. At e18.5, the proportion of homozygous Ash1 l germline knockout embryos appeared normal; however, no live Ash1 l null pups were present at birth (e18.5: n = 77, P = 0.90; p0: n = 41, P = 0.00095). Notably, Ash1l-/- exhibited shortened nasal bones (n = 31, P = 0.017). In the cortical-specific knockout model, SATB2 neurons showed increased numbers (n = 6/genotype, P = 0.0001) and were distributed through the cortical plate. Birthdating revealed generation of ectopically placed deep layer neurons that express SATB2 (e13.5 injection: n = 4/genotype, P = 0.0126). Single cell RNA sequencing revealed significant differences in gene expression between control and mutant upper layer neurons, leading to distinct clustering. Pseudotime analysis indicated that the mutant cluster followed an altered cell differentiation trajectory. This study underscores the essential role of Ash1 l in postnatal survival and normal craniofacial development. In the cortex, ASH1L exerts broad effects on gene expression and is indispensable for determining the fate of upper layer cortical neurons. These findings provide valuable insights into the potential mechanisms of ASH1L neuropathology, shedding light on its significance in neurodevelopmental disorders like autism.
PubMed: 38943682
DOI: 10.1093/brain/awae218 -
Autism Research : Official Journal of... Jun 2024This study aimed to document the safety and efficacy of a single infusion of autologous umbilical cord blood (UCB) in 20 autistic children aged 24-72 months. A...
Autologous umbilical cord blood infusion for the treatment of autism in young children: A within-subjects open label study on safety (assessed via caregiver report) and efficacy.
This study aimed to document the safety and efficacy of a single infusion of autologous umbilical cord blood (UCB) in 20 autistic children aged 24-72 months. A pre-post treatment within-subjects open label design was used. At T = 0, 6, 12, and 18 months, participants underwent detailed and structured safety evaluations (via caregiver report), Vineland Adaptive Behavior Scale (Vineland-3), Stanford Binet Intelligence Scale (SB-5), Expressive One-Word Picture Vocabulary Test, Brief Observation of Social Communication Change (BOSCC), Pervasive Developmental Disorder-Behavior Inventory, Repetitive Behavior Scale-Revised, Sensory Experience Questionnaire (SEQ-2.1), Child Behavior Checklist, Clinical Global Impression-Severity and Improvement (CGI-I) Scales, and eye-gaze tracking. UCB infusion was conducted at T = 6 months, hence, 0-6 months was the control period, and 6-18 months the follow-up period. Of 20 children recruited, 19 completed the study and 1 was withdrawn due to UCB not meeting quality control criteria for infusion. There were 15 males and 4 females with an overall mean (SD) age of 4.15 (0.62) years. Mean (SD) cell dose administered was 38.16 (9.82) million cells/kg. None suffered serious adverse events although there were mild behavioral side effects and one unit grew coagulase negative staphylococcus from a post-thaw sample. There were no significant differences in Vineland-3, SB-5, BOSCC, and SEQ-2.1 scores at T = 12 and T = 18 months. Twelve participants had T = 18 CGI-I scores of 2-3 (minimally to much improved), seven participants had scores of 4 (no change). Autologous UCB infusion in autistic children is generally safe but not without risks, including that of infection. In this within-subjects study, some children showed global symptom improvements while others showed no change. Stem cell therapies for autism should only be conducted under strict clinical trial conditions with clear risk discussions.
PubMed: 38943428
DOI: 10.1002/aur.3187