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Molecular Genetics & Genomic Medicine Apr 2024RASopathies are associated with an increased risk of autism spectrum disorder (ASD). For neurofibromatosis type 1 (NF1) there is ample evidence for this increased risk,... (Review)
Review
BACKGROUND
RASopathies are associated with an increased risk of autism spectrum disorder (ASD). For neurofibromatosis type 1 (NF1) there is ample evidence for this increased risk, while for other RASopathies this association has been studied less. No specific ASD profile has been delineated so far for RASopathies or a specific RASopathy individually.
METHODS
We conducted a systematic review to investigate whether a specific RASopathy is associated with a specific ASD profile, or if RASopathies altogether have a distinct ASD profile compared to idiopathic ASD (iASD). We searched PubMed, Web of Science, and Open Grey for data about ASD features in RASopathies and potential modifiers.
RESULTS
We included 41 articles on ASD features in NF1, Noonan syndrome (NS), Costello syndrome (CS), and cardio-facio-cutaneous syndrome (CFC). Individuals with NF1, NS, CS, and CFC on average have higher ASD symptomatology than healthy controls and unaffected siblings, though less than people with iASD. There is insufficient evidence for a distinct ASD phenotype in RASopathies compared to iASD or when RASopathies are compared with each other. We identified several potentially modifying factors of ASD symptoms in RASopathies.
CONCLUSIONS
Our systematic review found no convincing evidence for a specific ASD profile in RASopathies compared to iASD, or in a specific RASopathy compared to other RASopathies. However, we identified important limitations in the research literature which may also account for this result. These limitations are discussed and recommendations for future research are formulated.
Topics: Humans; Autism Spectrum Disorder; Noonan Syndrome; Heart Defects, Congenital; Costello Syndrome; Failure to Thrive; Neurofibromatosis 1
PubMed: 38581124
DOI: 10.1002/mgg3.2428 -
JAACAP Open Dec 2023A growing body of literature has focused on the neural mechanisms of depression. Our goal was to conduct a systematic review on the white matter microstructural...
OBJECTIVE
A growing body of literature has focused on the neural mechanisms of depression. Our goal was to conduct a systematic review on the white matter microstructural differences in adolescents with depressive disorders vs adolescents without depressive disorders.
METHOD
We searched PubMed and PsycINFO for publications on August 3, 2022 (original search conducted in July 2021). The review was registered on PROSPERO (registration number: CRD42021268200), and the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines were followed. Eligible studies were original research papers comparing diffusion tensor/spectrum imaging findings in adolescents with vs without depression (originally ages 12-19 years, later expanded to 11-21 years). Studies were excluded if they focused on depression exclusively in the context of another condition, used only dimensional depressive symptom assessment(s), or used the same dataset as another included publication.
RESULTS
The search yielded 575 unique records, of which 14 full-text papers were included (824 adolescents with depression and 686 without depression). The following white matter regions showed significant differences in fractional anisotropy in at least 3 studies: uncinate fasciculus, cingulum, anterior corona radiata, inferior fronto-occipital fasciculus, and corpus callosum (genu and body). Most studies reported decreased, rather than increased, fractional anisotropy in adolescents with depression. Limitations include the possibility for selective reporting bias and risk of imprecision, given the small sample sizes in some studies.
CONCLUSION
Our systematic review suggests aberrant white matter microstructure in limbic-cortical-striatal-thalamic circuits, and the corpus callosum, in adolescents with depression. Future research should focus on developmental trajectories in depression, identifying sources of heterogeneity and integrating findings across imaging modalities.
PubMed: 38576601
DOI: 10.1016/j.jaacop.2023.08.006 -
Molecular Autism Apr 2024This meta-analysis aimed to explore the most robust findings across numerous existing resting-state functional imaging and voxel-based morphometry (VBM) studies on the... (Meta-Analysis)
Meta-Analysis
BACKGROUND
This meta-analysis aimed to explore the most robust findings across numerous existing resting-state functional imaging and voxel-based morphometry (VBM) studies on the functional and structural brain alterations in individuals with autism spectrum disorder (ASD).
METHODS
A whole-brain voxel-wise meta-analysis was conducted to compare the differences in the intrinsic functional activity and gray matter volume (GMV) between individuals with ASD and typically developing individuals (TDs) using Seed-based d Mapping software.
RESULTS
A total of 23 functional imaging studies (786 ASD, 710 TDs) and 52 VBM studies (1728 ASD, 1747 TDs) were included. Compared with TDs, individuals with ASD displayed resting-state functional decreases in the left insula (extending to left superior temporal gyrus [STG]), bilateral anterior cingulate cortex/medial prefrontal cortex (ACC/mPFC), left angular gyrus and right inferior temporal gyrus, as well as increases in the right supplementary motor area and precuneus. For VBM meta-analysis, individuals with ASD displayed decreased GMV in the ACC/mPFC and left cerebellum, and increased GMV in the left middle temporal gyrus (extending to the left insula and STG), bilateral olfactory cortex, and right precentral gyrus. Further, individuals with ASD displayed decreased resting-state functional activity and increased GMV in the left insula after overlapping the functional and structural differences.
CONCLUSIONS
The present multimodal meta-analysis demonstrated that ASD exhibited similar alterations in both function and structure of the insula and ACC/mPFC, and functional or structural alterations in the default mode network (DMN), primary motor and sensory regions. These findings contribute to further understanding of the pathophysiology of ASD.
Topics: Humans; Autism Spectrum Disorder; Brain; Cerebral Cortex; Gray Matter; Gyrus Cinguli; Magnetic Resonance Imaging
PubMed: 38576034
DOI: 10.1186/s13229-024-00593-6 -
Frontiers in Human Neuroscience 2024Motor Imagery (MI) is a cognitive process consisting in mental simulation of body movements without executing physical actions: its clinical use has been investigated... (Review)
Review
BACKGROUND
Motor Imagery (MI) is a cognitive process consisting in mental simulation of body movements without executing physical actions: its clinical use has been investigated prevalently in adults with neurological disorders.
OBJECTIVES
Review of the best-available evidence on the use and efficacy of MI interventions for neurorehabilitation purposes in common and rare childhood neurological disorders.
METHODS
systematic literature search conducted according to PRISMA by using the Scopus, PsycArticles, Cinahl, PUBMED, Web of Science (Clarivate), EMBASE, PsychINFO, and COCHRANE databases, with levels of evidence scored by OCEBM and PEDro Scales.
RESULTS
Twenty-two original studies were retrieved and included for the analysis; MI was the unique or complementary rehabilitative treatment in 476 individuals (aged 5 to 18 years) with 10 different neurological conditions including, cerebral palsies, stroke, coordination disorders, intellectual disabilities, brain and/or spinal cord injuries, autism, pain syndromes, and hyperactivity. The sample size ranged from single case reports to cohorts and control groups. Treatment lasted 2 days to 6 months with 1 to 24 sessions. MI tasks were conventional, graded or ad-hoc. MI measurement tools included movement assessment batteries, mental chronometry tests, scales, and questionnaires, EEG, and EMG. Overall, the use of MI was stated as effective in 19/22, and uncertain in the remnant studies.
CONCLUSION
MI could be a reliable supportive/add-on (home-based) rehabilitative tool for pediatric neurorehabilitation; its clinical use, in children, is highly dependent on the complexity of MI mechanisms, which are related to the underlying neurodevelopmental disorder.
PubMed: 38571523
DOI: 10.3389/fnhum.2024.1245707 -
Health Science Reports Apr 2024Autism spectrum disorder (ASD) is a neurodevelopmental condition that impacts the brain, characterized by challenges in social communication and interaction, often...
BACKGROUND AND AIMS
Autism spectrum disorder (ASD) is a neurodevelopmental condition that impacts the brain, characterized by challenges in social communication and interaction, often accompanied by repetitive behaviors or focused interests. This study sheds light on the prevalence of ASD within the Southeast Asian region.
METHODS
The study protocol was registered in PROSPERO (Registration No: CRD42023413915). Appropriate search terms and Boolean operators were employed to explore electronic databases for relevant articles. Data thus extracted were prepared in Excel and analyzed in Comprehensive Meta-Analysis Software. The effect measure utilized in the study was represented by the proportion, and the choice between a fixed or random-effect model depended on the observed heterogeneity. Visual feedback was provided through the use of forest plots and funnel plots.
RESULTS
A total of 14 studies were included in the qualitative and quantitative synthesis after screening the imported studies. The prevalence of ASD was six per 1000 population (proportion: 0.006; CI: 0.002-0.017; : 99.263%). Among the ASD cases, 64.4% (proportion: 0.644; CI: 0.590-0.693; : 9.937%) were males and 35.6% (proportion: 0.356; CI: 0.307-0.410; : 9.937%) were females.
CONCLUSION
The prevalence of ASD in Southeast Asia was estimated to be six cases per 1000 individuals, with a higher prevalence among males. This study contributes to our understanding of ASD prevalence in the region, although it is essential to note certain limitations in estimating prevalence.
PubMed: 38559412
DOI: 10.1002/hsr2.2005 -
The Medical Journal of Malaysia Mar 2024Children with Autism Spectrum Disorder (ASD) often face significant challenges in verbal communication, social interaction, and exhibit repetitive behavioral patterns.... (Review)
Review
INTRODUCTION
Children with Autism Spectrum Disorder (ASD) often face significant challenges in verbal communication, social interaction, and exhibit repetitive behavioral patterns. These challenges persist across various developmental stages, particularly impacting their social communication abilities. This scoping review aims to explore the range of occupational therapy interventions that are employed to enhance social communication skills in children with ASD.
MATERIALS AND METHODS
A literature search was conducted independently on scientific databases: Scopus, Google Scholar, Science Direct, and Web of Science (WOS). The process was carried out according to the PRISMA guidelines.
RESULT
Of the 195 studies identified, 8 articles involving 185 participants, aged 17 months to 12 years old, across six countries met the inclusion criteria. The majority of studies indicate significant improvement in social communication abilities, while one study demonstrates insignificant results and another study presents mixed outcomes, utilising two different assessment tools.
CONCLUSION
Occupational therapy has showed promise in improving social communication in children with ASD. Nonetheless, this review emphasises the need for greater indepth study and long-term evaluation to better explain and sustain these benefits. More research is needed to develop OT interventions that are both effective and evidence-based.
Topics: Child; Humans; Autism Spectrum Disorder; Occupational Therapy; Communication
PubMed: 38555904
DOI: No ID Found -
Translational Psychiatry Mar 2024There is widespread overlap across major psychiatric disorders, and this is the case at different levels of observations, from genetic variants to brain structures and...
There is widespread overlap across major psychiatric disorders, and this is the case at different levels of observations, from genetic variants to brain structures and function and to symptoms. However, it remains unknown to what extent these commonalities at different levels of observation map onto each other. Here, we systematically review and compare the degree of similarity between psychiatric disorders at all available levels of observation. We searched PubMed and EMBASE between January 1, 2009 and September 8, 2022. We included original studies comparing at least four of the following five diagnostic groups: Schizophrenia, Bipolar Disorder, Major Depressive Disorder, Autism Spectrum Disorder, and Attention Deficit Hyperactivity Disorder, with measures of similarities between all disorder pairs. Data extraction and synthesis were performed by two independent researchers, following the PRISMA guidelines. As main outcome measure, we assessed the Pearson correlation measuring the degree of similarity across disorders pairs between studies and biological levels of observation. We identified 2975 studies, of which 28 were eligible for analysis, featuring similarity measures based on single-nucleotide polymorphisms, gene-based analyses, gene expression, structural and functional connectivity neuroimaging measures. The majority of correlations (88.6%) across disorders between studies, within and between levels of observation, were positive. To identify a consensus ranking of similarities between disorders, we performed a principal component analysis. Its first dimension explained 51.4% (95% CI: 43.2, 65.4) of the variance in disorder similarities across studies and levels of observation. Based on levels of genetic correlation, we estimated the probability of another psychiatric diagnosis in first-degree relatives and showed that they were systematically lower than those observed in population studies. Our findings highlight that genetic and brain factors may underlie a large proportion, but not all of the diagnostic overlaps observed in the clinic.
Topics: Humans; Depressive Disorder, Major; Autism Spectrum Disorder; Mental Disorders; Bipolar Disorder; Schizophrenia; Attention Deficit Disorder with Hyperactivity
PubMed: 38555309
DOI: 10.1038/s41398-024-02866-3 -
Neuroradiology Jul 2024We reviewed 33 original research studies assessing brain perfusion, using consensus guidelines from a "white paper" issued by the International Society for Magnetic... (Review)
Review
We reviewed 33 original research studies assessing brain perfusion, using consensus guidelines from a "white paper" issued by the International Society for Magnetic Resonance in Medicine Perfusion Study Group and the European Cooperation in Science and Technology Action BM1103 ("Arterial Spin Labelling Initiative in Dementia"; https://www.cost.eu/actions/BM1103/ ). The studies were published between 2011 and 2023 and included participants with subjective cognitive decline plus; neurocognitive disorders, including mild cognitive impairment (MCI), Alzheimer's disease (AD), frontotemporal lobar degeneration (FTLD), dementia with Lewy bodies (DLB) and vascular cognitive impairment (VCI); as well as schizophrenia spectrum disorders, bipolar and major depressive disorders, autism spectrum disorder, attention-deficit/hyperactivity disorder, panic disorder and alcohol use disorder. Hypoperfusion associated with cognitive impairment was the major finding across the spectrum of cognitive decline. Regional hyperperfusion also was reported in MCI, AD, frontotemporal dementia phenocopy syndrome and VCI. Hypoperfused structures found to aid in diagnosing AD included the precunei and adjacent posterior cingulate cortices. Hypoperfused structures found to better diagnose patients with FTLD were the anterior cingulate cortices and frontal regions. Hypoperfusion in patients with DLB was found to relatively spare the temporal lobes, even after correction for partial volume effects. Hyperperfusion in the temporal cortices and hypoperfusion in the prefrontal and anterior cingulate cortices were found in patients with schizophrenia, most of whom were on medication and at the chronic stage of illness. Infratentorial structures were found to be abnormally perfused in patients with bipolar or major depressive disorders. Brain perfusion abnormalities were helpful in diagnosing most neurocognitive disorders. Abnormalities reported in VCI and the remaining mental disorders were heterogeneous and not generalisable.
Topics: Humans; Spin Labels; Mental Disorders; Magnetic Resonance Imaging; Cerebrovascular Circulation; Cognitive Dysfunction
PubMed: 38536448
DOI: 10.1007/s00234-024-03323-0 -
Frontiers in Neuroscience 2024Interpersonal synchronization involves the alignment of behavioral, affective, physiological, and brain states during social interactions. It facilitates empathy,...
INTRODUCTION
Interpersonal synchronization involves the alignment of behavioral, affective, physiological, and brain states during social interactions. It facilitates empathy, emotion regulation, and prosocial commitment. Mental disorders characterized by social interaction dysfunction, such as Autism Spectrum Disorder (ASD), Reactive Attachment Disorder (RAD), and Social Anxiety Disorder (SAD), often exhibit atypical synchronization with others across multiple levels. With the introduction of the "second-person" neuroscience perspective, our understanding of interpersonal neural synchronization (INS) has improved, however, so far, it has hardly impacted the development of novel therapeutic interventions.
METHODS
To evaluate the potential of INS-based treatments for mental disorders, we performed two systematic literature searches identifying studies that directly target INS through neurofeedback (12 publications; 9 independent studies) or brain stimulation techniques (7 studies), following PRISMA guidelines. In addition, we narratively review indirect INS manipulations through behavioral, biofeedback, or hormonal interventions. We discuss the potential of such treatments for ASD, RAD, and SAD and using a systematic database search assess the acceptability of neurofeedback (4 studies) and neurostimulation (4 studies) in patients with social dysfunction.
RESULTS
Although behavioral approaches, such as engaging in eye contact or cooperative actions, have been shown to be associated with increased INS, little is known about potential long-term consequences of such interventions. Few proof-of-concept studies have utilized brain stimulation techniques, like transcranial direct current stimulation or INS-based neurofeedback, showing feasibility and preliminary evidence that such interventions can boost behavioral synchrony and social connectedness. Yet, optimal brain stimulation protocols and neurofeedback parameters are still undefined. For ASD, RAD, or SAD, so far no randomized controlled trial has proven the efficacy of direct INS-based intervention techniques, although in general brain stimulation and neurofeedback methods seem to be well accepted in these patient groups.
DISCUSSION
Significant work remains to translate INS-based manipulations into effective treatments for social interaction disorders. Future research should focus on mechanistic insights into INS, technological advancements, and rigorous design standards. Furthermore, it will be key to compare interventions directly targeting INS to those targeting other modalities of synchrony as well as to define optimal target dyads and target synchrony states in clinical interventions.
PubMed: 38529267
DOI: 10.3389/fnins.2024.1286130 -
Archivos Argentinos de Pediatria Apr 2024Cerebral palsy is associated with complications such as low bone mineral density, which is more severe in patients with greater motor involvement. Assisted standing...
Cerebral palsy is associated with complications such as low bone mineral density, which is more severe in patients with greater motor involvement. Assisted standing helps to prevent or delay this complication; however, its effect is controversial because the type of stander, the type of standing (dynamic or static), and its dosage are not clear. The objective of this study was to determine the effectiveness of assisted standing on bone mineral density in children with cerebral palsy. A systematic review was carried out in compliance with the PRISMA guidelines, using 5 databases. The results were presented using tables, a risk of bias analysis, and a narrative synthesis. Four studies met the inclusion criteria. Assisted standing generates positive changes in bone mineral density, but further research is required, with studies that have greater methodological rigor, longer follow-up periods, and a larger number of patients.
PubMed: 38527242
DOI: 10.5546/aap.2023-10251.eng