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MedRxiv : the Preprint Server For... Jun 2024Despite their importance, little is known about how social drivers of health shape communicative outcomes in autism. Even less is known when considering the intersection...
UNLABELLED
Despite their importance, little is known about how social drivers of health shape communicative outcomes in autism. Even less is known when considering the intersection of race and language impairment. An understanding of factors in communicative outcomes is key for characterizing developmental trajectories and informing supports. This cross-sectional observational study examined the role of social drivers of health in communicative outcomes of racially and ethnically minoritized autistic adolescents and adults. Participants ages 13 to 30 ( = 73) completed a behavioral assessment protocol, including language and nonverbal cognitive skills, as well as social drivers of health (sense of community, unmet services, barriers to services). Correlational analyses revealed associations between social drivers of health on social communication impairment and real-world communication. Generalized linear mixed-effects modeling revealed that language predicted real-world communication, but sense of community predicted social communication impairment. Findings point to the importance of assessing both individual differences and social drivers of health in outcomes in autism research. Future work should focus on social drivers of health in larger-scale analyses of outcomes in minoritized autistic individuals during the transition to adulthood, considering supports that align with service eligibility and person-centered outcomes.
LAY ABSTRACT
Where people live, work, and spend their time is important. Environments can have more or less services or differ in how much they help people feel like they belong to their community. These parts of the environment are called social drivers of health. Social drivers of health are important for outcomes in autism, but we do not know much about them in racially and ethnically minoritized autistic teens or adults. We recruited 73 minoritized autistic teens and adults ages 13 to 30 years and 52 caregivers (parents, grandparents, sibling) to our study. Teens and adults did language and NVIQ tests on Zoom. Teens, adults, and caregivers also answered questionnaires. Sense of community was important for social communication impairment, and language was important for real-world communication. These findings tell us two things. First, thinking about how to create supportive communication environments for autistic teens and adults is important. Second, understanding how social drivers of health shape outcomes is important. In the future, we should focus on how improving environments can help minoritized autistic teens and adults meet their communication goals.
PubMed: 38947098
DOI: 10.1101/2024.06.17.24309053 -
MedRxiv : the Preprint Server For... Jun 2024Auditory processing disorder (APD) has been studied in both research and clinic settings, but the relation between the two has not been addressed. In a longitudinal...
PURPOSE
Auditory processing disorder (APD) has been studied in both research and clinic settings, but the relation between the two has not been addressed. In a longitudinal research study (SICLiD), we found that children with clinically normal audiometry who had caregiver-reported listening difficulties (LiD), with or without clinically assessed APD, performed poorly on both listening and cognitive tests. Specific questions asked here were, for the children with LiD, what other neurodevelopmental clinical conditions were identified, what interventions were used by different clinical providers, and how clinical practice was predicted by research results.
METHODS
Study setting was a large, research-led, tertiary pediatric hospital. Electronic medical records of 74 children aged 6-13 years, recruited into SICLiD and assigned to an LiD group based on a validated and reliable caregiver report (ECLiPS), were independently reviewed. Focus was on clinical assessments and interventions following appointments provided in the Hospital Divisions of Audiology, Occupational Therapy, Psychology (Developmental and Behavioral Pediatrics), and Speech-Language Pathology (SLP), prior to participation in SICLiD. Descriptive statistics on clinical encounters, identified conditions, and interventions were compared with quantitative, standardized performance on SICLiD assessments of listening and cognitive function. SICLiD z-scores were compared for participants with and without each clinical condition using univariate and logistic prediction analyses.
RESULTS
Most (86%) of the children with LiD had been evaluated by at least one clinical service. Overall, 24 assessment categories related to LiD, including APD, were identified. Most common conditions were attention (32%), language (28%), hearing (18%), anxiety (16%), and autism spectrum (6%) disorders. Performance on SICLiD measures varied significantly between providers, conditions, and interventions. Significant relationships between SICLiD and clinical conditions were mostly caregiver-reported items from the ECLiPS or the Children's Communication Checklist (CCC-2). Other significant correlations were scarce, but included the SCAN composite score, which predicted clinical language and attention, but not other auditory abilities or APD. SICLiD data combined with caregiver reports provided reliable predictions of all clinical conditions except APD.
CONCLUSIONS
The variety of disciplines, assessments, conditions and interventions revealed here supports previous studies showing that LiD and APD are multifaceted problems of neurodevelopment. Comparisons between clinical- and research-based assessments suggest a diagnostic path that prioritizes caregiver reports and selected psychometric tests for screening and diagnostic purposes.
PubMed: 38946985
DOI: 10.1101/2024.06.12.24308837 -
Zhonghua Yi Xue Yi Chuan Xue Za Zhi =... Jul 2024To explore the clinical features and genetic etiology of a Chinese pedigree affected with Cowden syndrome (CS).
OBJECTIVE
To explore the clinical features and genetic etiology of a Chinese pedigree affected with Cowden syndrome (CS).
METHODS
A CS pedigree diagnosed in November 2022 at the Ningde Municipal Hospital Affiliated to Ningde Normal University was selected as the study subject. Clinical data were collected, and genetic testing was carried out for available members. Pathogenicity analysis was carried out for the candidate variant.
RESULTS
The proband, a 7-year-old male, was found to have autism and intellectual disability. Whole exome sequencing revealed that he has harbored a c.462_463del (p.F154Lfs25) variant of the PTEN gene. The proband's 35-year-old mother, who was diagnosed with pulmonary hamartomas at our hospital, has manifested with lipomas, nodular goiter, and adenomas. Sanger sequencing confirmed that she was also heterozygous for the c.462_463del (p.F154Lfs25) variant of the PTEN gene. No other family members has carried the same variant. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was classified as pathogenic (PVS1+PM2_Supporting+PM6).
CONCLUSION
The newly discovered c.462_463del (p.F154Lfs*25) variant of the PTEN gene probably underlay the CS in this pedigree. CS patients have higher risk for developing malignant tumors. Clinicians should be aware of this condition and emphasize follow-up of the patients.
Topics: Adult; Child; Female; Humans; Male; Asian People; China; East Asian People; Exome Sequencing; Genetic Testing; Hamartoma Syndrome, Multiple; Mutation; Pedigree; PTEN Phosphohydrolase
PubMed: 38946366
DOI: 10.3760/cma.j.cn511374-20230516-00290 -
Animal Models and Experimental Medicine Jul 2024Hypothyroxinemia is a subclinical thyroid hormone deficiency in which the mother has inadequate levels of T during pregnancy. The fetus relies entirely on the mother's T...
BACKGROUND
Hypothyroxinemia is a subclinical thyroid hormone deficiency in which the mother has inadequate levels of T during pregnancy. The fetus relies entirely on the mother's T hormone level for early neurodevelopment. Isolated maternal hypothyroxinemia (IMH) in the first trimester of pregnancy can lead to lower intelligence, lower motor scores, and a higher risk of mental illness in descendants. Here, we focus on the autism-like behavior of IMH offspring.
METHODS
The animals were administered 1 ppm of propylthiouracil (PTU) for 9 weeks. Then, the concentrations of T, T, and thyroid-stimulating hormone (TSH) were detected using enzyme-linked immunosorbent assay (ELISA) to verify the developed animal model of IMH. We performed four behavioral experiments, including the marble burying test, open-field test, three-chamber sociability test, and Morris water maze, to explore the autistic-like behavior of 40-day-old offspring rats.
RESULTS
The ELISA test showed that the serum T and TSH concentrations in the model group were normal compared with the negative control group, whereas the T concentration decreased. In the behavioral experiments, the number of hidden marbles in the offspring of IMH increased significantly, the frequency of entering the central compartment decreased, and the social ratio decreased significantly.
CONCLUSION
The animal model of IMH was developed by the administration of 1 ppm of PTU for 9 weeks, and there were autistic-like behavior changes such as anxiety, weakened social ability, and repeated stereotyping in the IMH offspring by 40 days.
PubMed: 38946346
DOI: 10.1002/ame2.12459 -
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