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Children (Basel, Switzerland) Jun 2024Valid and reliable developmental screening and assessment tools allow professionals to identify disabilities/delays in children, enabling timely intervention to limit... (Review)
Review
Valid and reliable developmental screening and assessment tools allow professionals to identify disabilities/delays in children, enabling timely intervention to limit adverse lifelong impacts on health. However, differences in child development related to culture, genetics, and perinatal outcomes may impact tool applicability. This study evaluated the validity, reliability, and accessibility of multidomain developmental screening tools for young children, analyzed the applicability of tools across different contexts, and created a compendium of tools. Employing adapted realist review methods, we searched APA PsycInfo, MEDLINE, CINAHL, ERIC, and Google to identify relevant articles and information. We assessed accessibility, validity, reliability, and contextual applicability (N = 4110 evidence sources) to create tool ratings and make recommendations. Of 33 identified tools, 22 were screening and 11 were assessment tools. Fewer screening tools than assessment tools were rated highly overall. Evidence for use in different cultures was often lacking for both types of tools. The ASQ (screening) and BDI (assessment) tools were rated most favorably and are recommended for use, though other tools may be more applicable in different contexts (e.g., NEPSY among children with Asperger's Syndrome). Future research should focus on assessing the validity and reliability of tools across different demographics to increase accessibility and ensure all children are properly supported.
PubMed: 38929324
DOI: 10.3390/children11060745 -
Indian Journal of Psychological Medicine Mar 2024Being a typically developing sibling to a child with autism spectrum disorder (ASD-Sib) can be associated with several behavioral and mental health problems. With this... (Review)
Review
Being a typically developing sibling to a child with autism spectrum disorder (ASD-Sib) can be associated with several behavioral and mental health problems. With this understanding, researchers are beginning to focus on sibling-oriented interventions. This review seeks to evaluate the current literature on such interventions. We searched digital databases and identified eight relevant studies. The sample (n = 247) had an age range of 4-16 years. The outcomes were generally positive, with improvements in different facets of ASD-Sibs. Results differed due to varied intervention styles, outcome variables, methods, and samples. Our findings highlight the potential for improvement in ASD-Sib's knowledge of autism and their psychological functioning and hence call for further research with robust methods.
PubMed: 38725717
DOI: 10.1177/02537176231176404 -
Iranian Journal of Psychiatry Feb 2024Early detection of autism spectrum disorder (ASD) can lead to earlier intervention and greater improvement of children's quality of life and performance; hence, the use...
Early detection of autism spectrum disorder (ASD) can lead to earlier intervention and greater improvement of children's quality of life and performance; hence, the use of screening tools is essential to facilitate the diagnosis process. The aim of the present study was to determine the clinical and differential validity of Social Responsiveness Scale-Second Edition (SRS-2) and Social Communication Questionnaire (SCQ) in a group of children and adolescents with autism spectrum disorder compared to a normal developmental group. The study was conducted in Roozbeh Hospital involving 52 children with ASD and 53 typically developing (TD) children, aged between 4-12 years. Their parents completed the SRS-2 and SCQ. These children were also interviewed using the Childhood Autism Rating Scale, 2nd Edition (CARS-2) and Asperger Syndrome Diagnostic Scale (ASDS). After completion, the results were analyzed using the SPSS Version 18 software and a significant level of 0.05. The average age of children in the autism group was 7.5 ± 2.7 years, while in the typically developing (TD) children group, it was 7.7 ± 2.3 years (P = 0.656). A positive correlation coefficient was observed between the CARS questionnaire score, the SRS questionnaire score, the SCQ questionnaire score, and the ASDS (P < 0.01). In the SRS questionnaire, the area under the ROC curve was 0.976, and in the SCQ questionnaire it was 0.953, both of which had a good and significant diagnostic value (P < 0.001). A sensitivity of 0.942 and specificity of 0.811 for the cut-off point of 62.5 were obtained in the SRS questionnaire. Additionally, a sensitivity of 0.865 and specificity of 0.925 for the cut-off point of 15.5 were achieved in the SCQ questionnaire. The SRS-2 and the SCQ are sensitive and specific tools for identifying and discriminating children with autism spectrum disorder.
PubMed: 38686312
DOI: 10.18502/ijps.v19i2.15108 -
Current Issues in Molecular Biology Apr 2024Autism spectrum disorder (ASD) is a neurodevelopmental disorder that includes autism, Asperger's syndrome, and pervasive developmental disorder. Individuals with ASD may...
Autism spectrum disorder (ASD) is a neurodevelopmental disorder that includes autism, Asperger's syndrome, and pervasive developmental disorder. Individuals with ASD may exhibit difficulties in social interactions, communication challenges, repetitive behaviors, and restricted interests. While genetic mutations in individuals with ASD can either activate or inactivate the activities of the gene product, impacting neuronal morphogenesis and causing symptoms, the underlying mechanism remains to be fully established. Herein, for the first time, we report that genetically conserved Rac1 guanine-nucleotide exchange factor (GEF) Dock5 signalosome molecules control process elongation in the N1E-115 cell line, a model line capable of achieving neuronal morphological changes. The increased elongation phenotypes observed in ASD and intellectual disability (ID)-associated Semaphorin-5A (Sema5A) Arg676-to-Cys [p.R676C] were also mediated by Dock5 signalosome molecules. Indeed, knockdown of Dock5 using clustered regularly interspaced short palindromic repeat (CRISPR)/CasRx-based guide(g)RNA specifically recovered the mutated Sema5A-induced increase in process elongation in cells. Knockdown of Elmo2, an adaptor molecule of Dock5, also exhibited similar recovery. Comparable results were obtained when transfecting the interaction region of Dock5 with Elmo2. The activation of c-Jun N-terminal kinase (JNK), one of the primary signal transduction molecules underlying process elongation, was ameliorated by either their knockdown or transfection. These results suggest that the Dock5 signalosome comprises abnormal signaling involved in the process elongation induced by ASD- and ID-associated Sema5A. These molecules could be added to the list of potential therapeutic target molecules for abnormal neuronal morphogenesis in ASD at the molecular and cellular levels.
PubMed: 38666924
DOI: 10.3390/cimb46040194 -
Lancet Regional Health. Americas May 2024Patients with autism spectrum disorders (ASD) experience higher rates of perioperative anxiety and are likely to receive premedication. Little is known about...
BACKGROUND
Patients with autism spectrum disorders (ASD) experience higher rates of perioperative anxiety and are likely to receive premedication. Little is known about nonpharmaceutical interventions which may decrease anxiety. This study aims to evaluate the use of an adaptive sensory environment (ASE) to reduce ASD patient anxiety during the perioperative process.
METHODS
Our feasibility study (ClinicalTrials.govNCT04994613) enrolled 60 patients in two parallel groups randomized to a control (no ASE) or intervention group (ASE). We included all surgical patients aged three to twelve years, with a formal diagnosis of ASD, Asperger's Syndrome, or pervasive developmental disorder not otherwise specified. Preoperative behaviors were recorded by an unblinded nurse utilizing the validated Modified Yale Preoperative Anxiety Scale (mYPAS). The difference in score on the mYPAS was the primary outcome, and an intention-to-treat analysis was employed. A generalized estimating equations model was used to compare mYPAS scores controlling for significant independent variables.
FINDINGS
58 patients were analyzed after 1:1 randomization of 30 patients to each group. Groups were balanced except the median number of intraoperative pain medications was significantly lower in the ASE group (1 vs. 3, p = 0.012). Mean (SD) age for all patients was 7.2 (2.9) years, range 2.6-12.7. 72.4% (42/58) were White and all were Non-Hispanic or Latino. 74% were Male (21/30 ASE and 22/28 Control) and 26% were Female (9/30 ASE and 6/28 Control). No differences were found in mYPAS scores between groups at three time periods (43.5 vs. 42, p = 0.88, 47.8 vs. 48.4, p = 0.76, and 36.4 vs. 43.8, p = 0.15, ASE vs. control group, respectively). The ASE group had a significant within-group decrease in mYPAS scores from nursing intake to transition (p = 0.030).
INTERPRETATION
An ASE did not significantly reduce perioperative anxiety. However, the promising results deserve further investigation.
FUNDING
Dayton Children's Hospital Foundation Robert C. Cohn Memorial Research Grant.
PubMed: 38645550
DOI: 10.1016/j.lana.2024.100736 -
Journal of Psychiatric Research May 2024In the last decades, growing caseness for Autism Spectrum Disorder (ASD) has been observed, owing to the diagnostic accretion of low-impairment forms, over and above... (Review)
Review
In the last decades, growing caseness for Autism Spectrum Disorder (ASD) has been observed, owing to the diagnostic accretion of low-impairment forms, over and above other possible causes. Unrecognized ASD is likely to be mislabeled as a psychotic disorder (PD), as people in the spectrum may show 'pseudopsychotic' symptoms, resembling both negative and positive symptoms. On the other hand, PDs are likely to be overlooked when they arise in people with ASD, due to the 'diagnostic overshadowing' of new-onset conditions by lifelong core autistic symptoms. The three available metanalyses on the occurrence of psychosis in adults with ASD convergently reported a rate of PDs that is at least ten times higher than in the general population. Therefore, the lack of literature addressing risk factors, outcomes, and treatment options for psychosis in the context of ASD is utterly concerning. The present review aims to summarize up-to-date knowledge of PDs with comorbid ASD in terms of clinical features, course, and treatment.
Topics: Adult; Humans; Autism Spectrum Disorder; Psychotic Disorders; Imagination
PubMed: 38593694
DOI: 10.1016/j.jpsychires.2024.03.043 -
Psychiatria Polska Dec 2023In this article, we present the case of an adult patient, whose main problem is episodes of fantasizing and rocking lasting up to 12 hours a day and completely...
In this article, we present the case of an adult patient, whose main problem is episodes of fantasizing and rocking lasting up to 12 hours a day and completely preventing school development. The nature of the disorder in the patient is related to the sinking into fantasies, and not typical obsessions as in OCD. The patient was previously treated with drugs from the SSRI group, neuroleptics (without aripiprazole) and methylphenidate. Only methylphenidate showed some improvement; however, it made the patient feel ‟stiff in thinking". The patient was hospitalized because of a suicide attempt, which, as it later turned out, was self-harm with no intention of killing himself. During hospitalization, a differential diagnosis was performed and the diagnosis of Asperger's syndrome was made, which was accompanied by immersion in the world of one's fantasies and stereotypical behavior. The patient was administered aripiprazole at a dose of 15 mg/d and after three weeks, a significant improvement in health was achieved, including a reduction in the duration of episodes from several hours to several dozen seconds. The drug is well tolerated by the patient. The patient was discharged from the hospital and continues his school education. In the article, we present single case reports in which similar spectacular results were achieved in similar cases. We also describe a possible physiological explanation for this response to this drug.
Topics: Adult; Humans; Asperger Syndrome; Aripiprazole; Antipsychotic Agents; Suicide, Attempted; Methylphenidate
PubMed: 38564518
DOI: 10.12740/PP/152316 -
Frontiers in Neuroscience 2024Critical phases of neurodevelopment and gut microbiota diversification occur in early life and both processes are impacted by genetic and environmental factors. Recent...
Functional contribution of the intestinal microbiome in autism spectrum disorder, attention deficit hyperactivity disorder, and Rett syndrome: a systematic review of pediatric and adult studies.
INTRODUCTION
Critical phases of neurodevelopment and gut microbiota diversification occur in early life and both processes are impacted by genetic and environmental factors. Recent studies have shown the presence of gut microbiota alterations in neurodevelopmental disorders. Here we performed a systematic review of alterations of the intestinal microbiota composition and function in pediatric and adult patients affected by autism spectrum disorder (ASD), attention-deficit/hyperactivity disorder (ADHD), and Rett syndrome (RETT).
METHODS
We searched selected keywords in the online databases of PubMed, Cochrane, and OVID (January 1980 to December 2021) with secondary review of references of eligible articles. Two reviewers independently performed critical appraisals on the included articles using the Critical Appraisal Skills Program for each study design.
RESULTS
Our systematic review identified 18, 7, and 3 original articles describing intestinal microbiota profiles in ASD, ADHD, and RETT, respectively. Decreased Firmicutes and increased Bacteroidetes were observed in the gut microbiota of individuals affected by ASD and ADHD. Proinflammatory cytokines, short-chain fatty acids and neurotransmitter levels were altered in ASD and RETT. Constipation and visceral pain were related to changes in the gut microbiota in patients affected by ASD and RETT. Hyperactivity and impulsivity were negatively correlated with (phylum Firmicutes) and positively correlated with sp. (phylum Bacteroidetes) in ADHD subjects. Five studies explored microbiota-or diet-targeted interventions in ASD and ADHD. Probiotic treatments with sp. and fecal microbiota transplantation from healthy donors reduced constipation and ameliorated ASD symptoms in affected children. Perinatal administration of sp. prevented the onset of Asperger and ADHD symptoms in adolescence. Micronutrient supplementation improved disease symptomatology in ADHD without causing significant changes in microbiota communities' composition.
DISCUSSION
Several discrepancies were found among the included studies, primarily due to sample size, variations in dietary practices, and a high prevalence of functional gastrointestinal symptoms. Further studies employing longitudinal study designs, larger sample sizes and multi-omics technologies are warranted to identify the functional contribution of the intestinal microbiota in developmental trajectories of the human brain and neurobehavior.
SYSTEMATIC REVIEW REGISTRATION
https://clinicaltrials.gov/, CRD42020158734.
PubMed: 38516317
DOI: 10.3389/fnins.2024.1341656 -
Imaging Neuroscience (Cambridge, Mass.) Oct 2023Structural magnetic resonance imaging (MRI) quality is known to impact and bias neuroanatomical estimates and downstream analysis, including case-control comparisons,...
Structural magnetic resonance imaging (MRI) quality is known to impact and bias neuroanatomical estimates and downstream analysis, including case-control comparisons, and a growing body of work has demonstrated the importance of careful quality control (QC) and evaluated the impact of image and image-processing quality. However, the growing size of typical neuroimaging datasets presents an additional challenge to QC, which is typically extremely time and labour intensive. One of the most important aspects of MRI quality is the accuracy of processed outputs, which have been shown to impact estimated neurodevelopmental trajectories. Here, we evaluate whether the quality of surface reconstructions by FreeSurfer (one of the most widely used MRI processing pipelines) interacts with clinical and demographic factors. We present a tool, FSQC, that enables quick and efficient yet thorough assessment of outputs of the FreeSurfer processing pipeline. We validate our method against other existing QC metrics, including the automated FreeSurfer Euler number, two other manual ratings of raw image quality, and two popular automated QC methods. We show strikingly similar spatial patterns in the relationship between each QC measure and cortical thickness; relationships for cortical volume and surface area are largely consistent across metrics, though with some notable differences. We next demonstrate that thresholding by QC score attenuates but does not eliminate the impact of quality on cortical estimates. Finally, we explore different ways of controlling for quality when examining differences between autistic individuals and neurotypical controls in the Autism Brain Imaging Data Exchange (ABIDE) dataset, demonstrating that inadequate control for quality can alter results of case-control comparisons.
PubMed: 38495338
DOI: 10.1162/imag_a_00022