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Frontiers in Cardiovascular Medicine 2024The effect of mental disorders (MD) on cardiovascular disease (CVD) remains controversial, and this study aims to analyze the causal relationship between eight MD and...
OBJECTIVE
The effect of mental disorders (MD) on cardiovascular disease (CVD) remains controversial, and this study aims to analyze the causal relationship between eight MD and CVD by Mendelian randomization (MR).
METHODS
Single nucleotide polymorphisms of attention-deficit/hyperactivity disorder (ADHD), anorexia nervosa (AN), anxiety disorder (ANX), autism spectrum disorder (ASD), bipolar disorder (BD), depression, obsessive-compulsive disorder (OCD), schizophrenia (SCZ), and CVD were obtained from UK Biobank and FinnGen. Exposure-outcome causality was tested using inverse variance weighted (IVW), MR-Egger, and weighted median. Horizontal pleiotropy and heterogeneity were assessed by MR-Egger intercept and Cochran's Q, respectively, while stability of results was assessed by leave-one-out sensitivity analysis.
RESULTS
MR analysis showed that ANX (IVW [odds ratio (OR) 1.11, 95% confidence intervals (CI) 1.07-1.15, < 0.001]; MR-Egger [OR 1.03, 95% CI 0.92-1.14, = 0.652]; weighted median [OR 1.09, 95% CI 1.03-1.14, = 0.001]), ASD (IVW [OR 1.05, 95% CI 1.00-1.09, = 0.039]; MR-Egger [OR 0.95, 95% CI 0.84-1.07, = 0.411]; weighted median [OR 1.01, 95% CI 0.96-1.06, = 0.805]), depression (IVW [OR 1.15, 95% CI 1.10-1.19, < 0.001]; MR-Egger [OR 1.10, 95% CI 0.96-1.26, = 0.169]; weighted median [OR 1.13, 95% CI 1.08-1.19, < 0.001]) were significantly associated with increased risk of CVD, whereas ADHD, AN, BD, OCD, and SCZ were not significantly associated with CVD ( > 0.05). Intercept analysis showed no horizontal pleiotropy ( > 0.05). Cochran's Q showed no heterogeneity except for BD ( = 0.035). Sensitivity analysis suggested that these results were robust.
CONCLUSIONS
ANX, ASD, and depression are associated with an increased risk of CVD, whereas AN, ADHD, BD, OCD, and SCZ are not causally associated with CVD. Active prevention and treatment of ANX, ASD, and depression may help reduce the risk of CVD.
PubMed: 38887450
DOI: 10.3389/fcvm.2024.1329463 -
Trends in Psychiatry and Psychotherapy Jun 2024Autism spectrum disorder (ASD) is a neurodevelopmental disorder that has been linked to the dysregulation in the cholinergic and endocannabinoid (EC) system. This study...
INTRODUCTION
Autism spectrum disorder (ASD) is a neurodevelopmental disorder that has been linked to the dysregulation in the cholinergic and endocannabinoid (EC) system. This study systematically reviews the present literature on treatment strategies aimed at enhancing the activity of both systems in ASD models.
METHOD
We performed a systematic evaluation of literatures that investigated the effects of different therapeutic interventions on the components of the cholinergic and EC systems in ASD models, following the guidelines provided by the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) checklist. Four databases were searched: Google Scholar, Web of science, EMBASE and MEDLINE/PubMed, between August 2012 and February 2023. The selected research papers' references were also examined. Twelve papers (five for cholinergic system, six for EC system and one for the two systems) were reviewed in this study of prior relevant treatment strategies that impact both systems. There were 77 studies cited in total.
RESULTS
The majority of research revealed that different therapeutic interventions down-regulated cannabinoid 1 (CB1) receptors, and the systems hydrolyzing enzymes and up-regulated EC, Alpha7 nicotinic acetylcholine receptor (α7 nAChR), and acetylcholine signaling molecules. The regulation of the components of the cholinergic and EC systems by the therapeutics generally enhanced behaviors in ASD models.
CONCLUSION
It is possible that there are therapeutic interventions assessed in one of the systems that may be effective in treating the core ASD-associated phenotype. The benefits of the reviewed therapeutic interventions in this study need to be further investigated in randomized, blind, placebo-controlled clinical trials.
PubMed: 38885129
DOI: 10.47626/2237-6089-2024-0791 -
Psychiatry and Clinical... Mar 2024This study aims to examine the levels and the relationship between resilience and marital adjustment in mothers of a child diagnosed with autism spectrum disorder.
BACKGROUND
This study aims to examine the levels and the relationship between resilience and marital adjustment in mothers of a child diagnosed with autism spectrum disorder.
METHODS
Seventy mothers with a child diagnosed with autism spectrum disorder who have been followed up in the Child and Adolescent Psychiatry Outpatient Clinic of Bakırköy Training and Research Hospital for Psychiatry Neurology and Neurosurgery and 74 mothers with a typically developing child to form the control group were included in the study. The Childhood Autism Rating Scale was applied to assess the severity of autism symptoms in children. Sociodemographic form, Beck Depression Scale and Beck Anxiety Scale were applied. The Psychological Resilience Scale for Adults was used to assess resilience. The Marital Adjustment Scale was applied to evaluate the participants' marital adjustment.
RESULTS
The level of resilience ( < .001) and marital adjustment ( = .002) in mothers of children with autism spectrum disorder were found to be lower when compared to mothers with a typically developing child. There is a negative correlation between the level of resilience and the severity of autism ( = .002) ( = -0.361). A positive correlation was found between marital adjustment and resilience ( < .001) ( = 0.465). High levels of depressive symptoms ( = .003), low marital adjustment ( = .003), and low educational level were found to be predictive of low resilience ( = .044).
CONCLUSION
Taking advantage of the fact that resilience is a dynamic process, there is a need to develop strategies to increase resilience in mothers of children with autism spectrum disorder, which will also give rise to individual and marital well-being.
PubMed: 38883886
DOI: 10.5152/pcp.2023.22592 -
Research Square Jun 2024Little is known about how the brains of autistic children process language during real-world "social contexts," despite the fact that challenges with language,...
BACKGROUND
Little is known about how the brains of autistic children process language during real-world "social contexts," despite the fact that challenges with language, communication, and social interaction are core features of Autism Spectrum Disorder (ASD).
METHODS
We investigated the neural bases of language processing during social and non-social contexts in a sample of =20 autistic and =20 neurotypical (NT) preschool-aged children, 3 to 6 years old. Functional near-infrared spectroscopy (fNIRS) was used to measure children's brain response to "live language" spoken by a live experimenter during an in-person social context (i.e., book reading), and "recorded language" played via an audio recording during a non-social context (i.e., screen time). We examined within-group and between-group differences in the strength and localization of brain response to live language and recorded language, as well as correlations between children's brain response and language skills measured by the Preschool Language Scales.
RESULTS
In the NT group, brain response to live language was greater than brain response to recorded language in the right temporal parietal junction (TPJ). In the ASD group, the strength of brain response did not differ between conditions. The ASD group showed greater brain response to recorded language than the NT group in the right inferior and middle frontal gyrus (IMFG). Across groups, children's language skills were negatively associated with brain response to recorded language in the right IMFG, suggesting that processing recorded language required more cognitive effort for children with lower language skills. Children's language skills were also positively associated with the difference in brain response between conditions in the right TPJ, demonstrating that children who showed a greater difference in brain response to live language versus recorded language had higher language skills.
LIMITATIONS
Findings should be considered preliminary until they are replicated in a larger sample.
CONCLUSIONS
Findings suggest that the brains of NT children, but not autistic children, process language differently during social and non-social contexts. Individual differences in how the brain processes language during social and non-social contexts may help to explain why language skills are so variable across children with and without autism.
PubMed: 38883761
DOI: 10.21203/rs.3.rs-4450882/v1 -
MedRxiv : the Preprint Server For... Jun 2024Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by atypical patterns of social functioning and repetitive/restricted behaviors. ASD...
Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by atypical patterns of social functioning and repetitive/restricted behaviors. ASD commonly co-occurs with ADHD and, despite their clinical distinctiveness, the two share considerable genetic overlap. Given their shared genetic liability, it is unclear which genetic pathways confer unique risk for ASD independent of ADHD. We applied Genomic Structural Equation Modeling (SEM) to GWAS summary statistics for ASD and ADHD, decomposing the genetic signal for ASD into that which is unique to ASD ( and that which is shared with ADHD. We computed genetic correlations between and 75 external traits to estimate genetic overlap between and other clinically relevant phenotypes. We went on to apply Stratified Genomic SEM to identify classes of genes enriched for . Finally, we implemented Transcriptome-Wide SEM (T-SEM) to explore patterns of gene-expression associated with . We observed positive genetic correlations between and several external traits, most notably those relating to cognitive/educational outcomes and internalizing psychiatric traits. Stratified Genomic SEM showed that heritability for was significantly enriched in genes involved in evolutionarily conserved processes, as well as for a histone mark in the germinal matrix. T-SEM revealed 83 unique genes with expression associated with many of which were novel. These findings delineate the unique biological underpinnings of ASD which exist independent of ADHD and demonstrate the utility of Genomic SEM and its extensions for disambiguating shared and unique risk pathways for genetically overlapping traits.
PubMed: 38883730
DOI: 10.1101/2024.06.07.24308616 -
BioRxiv : the Preprint Server For... Mar 2024The arginine vasopressin 1b receptor (Avpr1b) plays an important role in social behaviors including social learning, memory, and aggression, and is known to be a...
The arginine vasopressin 1b receptor (Avpr1b) plays an important role in social behaviors including social learning, memory, and aggression, and is known to be a specific marker for the cornu ammonis area 2 (CA2) regions of the hippocampus. The fasciola cinereum (FC) is an anatomical region in which Avpr1b expressing neurons are prominent, but the functional roles of the FC have yet to be investigated. Surprisingly, the FC is absent in the inbred BTBR T+tf/J (BTBR) mouse strain used to study core behavioral deficits of autism. Here, we characterized and compared transcriptomic expression profiles using single nucleus RNA sequencing and identified 7 different subpopulations and heterogeneity within the dorsal CA2 (dCA2) and FC. involved in autism spectrum disorder, is more highly expressed in the FC. Using Hiplex hybridization, we examined the neuroanatomical locations of these subpopulations in the proximal and distal regions of the hippocampus. Anterograde tracing of Avpr1b neurons specific for the FC showed projections to the IG, dCA2, lacunosum molecular layer of CA1, dorsal fornix, septofibrial nuclei, and intermediate lateral septum (iLS). In contrast to the dCA2, inhibition of Avpr1b neurons in the FC by the inhibitory DREADD system during behavioral testing did not impair social memory. We performed single nucleus RNA sequencing in the dCA2 region and compared between wildtype (WT) and BTBR mice. We found that transcriptomic profiles of dCA2 neurons between BTBR and WT mice are very similar as they did not form any unique clusters; yet, we found there were differentially expressed genes between the dCA2s of BTBR and WT mice. Overall, this is a comprehensive study of the comparison of Avpr1b neuronal subpopulations between the FC and dCA2. The fact that FC is absent in BTBR mice, a mouse model for autism spectrum disorder, suggests that the FC may play a role in understanding neuropsychiatric disease.
PubMed: 38883723
DOI: 10.1101/2024.03.21.586108 -
Journal of Data Science : JDS Oct 2023Bayesian methods provide direct inference in functional data analysis applications without reliance on bootstrap techniques. A major tool in functional data applications...
Bayesian methods provide direct inference in functional data analysis applications without reliance on bootstrap techniques. A major tool in functional data applications is the functional principal component analysis which decomposes the data around a common mean function and identifies leading directions of variation. Bayesian functional principal components analysis (BFPCA) provides uncertainty quantification on the estimated functional model components via the posterior samples obtained. We propose central posterior envelopes (CPEs) for BFPCA based on functional depth as a descriptive visualization tool to summarize variation in the posterior samples of the estimated functional model components, contributing to uncertainty quantification in BFPCA. The proposed BFPCA relies on a latent factor model and targets model parameters within a mixed effects modeling framework using modified multiplicative gamma process shrinkage priors on the variance components. Functional depth provides a center-outward order to a sample of functions. We utilize modified band depth and modified volume depth for ordering of a sample of functions and surfaces, respectively, to derive at CPEs of the mean and eigenfunctions within the BFPCA framework. The proposed CPEs are showcased in extensive simulations. Finally, the proposed CPEs are applied to the analysis of a sample of power spectral densities (PSD) from resting state electroencephalography (EEG) where they lead to novel insights on diagnostic group differences among children diagnosed with autism spectrum disorder and their typically developing peers across age.
PubMed: 38883309
DOI: 10.6339/23-jds1085 -
Cureus May 2024Septo-optic dysplasia (SOD) is a rare congenital disorder characterized by optic nerve hypoplasia, brain midline structure anomalies, and hypothalamic-pituitary axis...
Septo-optic dysplasia (SOD) is a rare congenital disorder characterized by optic nerve hypoplasia, brain midline structure anomalies, and hypothalamic-pituitary axis hypoplasia. This case report aims to highlight the association between SOD and neurodevelopmental disorders, focusing on attention-deficit/hyperactivity disorder (ADHD) in addition to the well-established link with autism spectrum disorder (ASD). A six-year-old male diagnosed with SOD presented with behavioral concerns, including attention and impulse control issues. A comprehensive psychological evaluation confirmed the diagnosis of ADHD and ruled out ASD. Ophthalmological assessments were integral to understanding the patient's condition. This case underscores the importance of recognizing neurodevelopmental disorders in individuals with SOD, with a particular focus on the less common association with ADHD. The co-occurrence of these conditions underscores the complexity of neurodevelopmental disorders and the need for comprehensive evaluation and management. Collaboration between ophthalmologists and mental health specialists is crucial for addressing the diverse needs of these patients. Early identification and intervention for ADHD are essential for optimal developmental outcomes. This case underscores the necessity for further research to elucidate the relationship between SOD and ADHD, emphasizing the importance of holistic patient care and interdisciplinary collaboration in managing individuals with SOD spectrum conditions.
PubMed: 38883061
DOI: 10.7759/cureus.60441 -
Cureus May 2024Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with a rising prevalence worldwide. While genetic factors are significantly associated with the...
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.
PubMed: 38882979
DOI: 10.7759/cureus.60362 -
Acta Medica Philippina 2024To describe patterns of feeding difficulties and behaviors of Filipino children diagnosed with Autism Spectrum Disorder (ASD).
Survey on the Patterns of Feeding Difficulties and Behaviors in Filipino Children with Autism Spectrum Disorder Seen in a Philippine Tertiary Hospital and the Impact of the COVID-19 Pandemic.
OBJECTIVE
To describe patterns of feeding difficulties and behaviors of Filipino children diagnosed with Autism Spectrum Disorder (ASD).
METHODS
An electronic mealtime survey was administered to caregivers of 3- to 9-year-old children diagnosed with ASD in a Philippine tertiary government hospital. Descriptive statistics and correlation analyses between feeding difficulties measured as Mealtime Survey Score, sociodemographic data, and early feeding history were performed. The impact of the COVID-19 pandemic to these was analyzed through a binomial test.
RESULTS
All of the 115 study subjects reported at least one problematic feeding behavior, with picky eating being the most frequent (61.74%). Significantly, more feeding difficulties were observed among the children with reported early feeding difficulties during their 2 and 3 year of life. There were no documented statistically significant changes in feeding behaviors during the past six months of the COVID-19 pandemic.
CONCLUSION
There is a high prevalence of feeding difficulties and problematic feeding behavior among Filipino children with ASD, however no significant changes to these during the past six months of the COVID-19 pandemic were documented. Present feeding difficulties and behaviors were associated with history of early feeding difficulties, highlighting the need to include feeding difficulties in screening tools, and early training programs and interventions for children with ASD.
PubMed: 38882917
DOI: 10.47895/amp.v58i7.6340