keyword
https://read.qxmd.com/read/38327885/des-arg-9-bradykinin-as-a-causal-metabolite-for-autism-spectrum-disorder
#21
JOURNAL ARTICLE
Zhong-Yu Huang, Zi-Pan Lyu, Hong-Gui Li, Hua-Zhi You, Xiang-Na Yang, Cai-Hui Cha
BACKGROUND: Early diagnosis and therapeutic interventions can greatly enhance the developmental trajectory of children with autism spectrum disorder (ASD). However, the etiology of ASD is not completely understood. The presence of confounding factors from environment and genetics has increased the difficulty of the identification of diagnostic biomarkers for ASD. AIM: To estimate and interpret the causal relationship between ASD and metabolite profile, taking into consideration both genetic and environmental influences...
January 19, 2024: World Journal of Psychiatry
https://read.qxmd.com/read/38315653/provider-reported-experiences-barriers-and-perspectives-on-genetic-testing-as-part-of-autism-diagnosis
#22
JOURNAL ARTICLE
Amy Wang, India D Little, Dennis Carter, Stephanie Pham, Madeline Piper, Gabriela M Ramírez-Renta, Sydney Telaak, Chris Gunter
Several professional organizations recommend conducting genetic testing as part of the autism diagnosis process, as it can provide additional information and benefits for autistic people and their families. However, there is disagreement among autism communities about whether genetic testing reflects autistic people's best interests. In practice, rates of clinical genetic testing for autism are much lower than diagnoses, creating a large gap between clinical guidelines and real clinical encounters. To investigate one potential source of this gap, we interviewed 14 healthcare providers about the autism diagnostic process and their actions related to autism genetic testing...
2024: PloS One
https://read.qxmd.com/read/38299073/the-effects-of-psychiatric-disorders-on-the-risk-of-chronic-heart-failure-a-univariable-and-multivariable-mendelian-randomization-study
#23
JOURNAL ARTICLE
Yang Chen, Wenke Peng, Min Pang, Botao Zhu, Huixing Liu, Die Hu, Yonghong Luo, Shuai Wang, Sha Wu, Jia He, Yang Yang, Daoquan Peng
BACKGROUND: Substantial evidence suggests an association between psychiatric disorders and chronic heart failure. However, further investigation is needed to confirm the causal relationship between these psychiatric disorders and chronic heart failure. To address this, we evaluated the potential effects of five psychiatric disorders on chronic heart failure using two-sample Mendelian Randomization (MR). METHODS: We selected single nucleotide polymorphisms (SNPs) associated with chronic heart failure and five psychiatric disorders (Attention-Deficit Hyperactivity Disorder (ADHD), Autism Spectrum Disorder (ASD), Major Depression, Bipolar Disorder and Schizophrenia (SCZ))...
2024: Frontiers in Public Health
https://read.qxmd.com/read/38293238/transcriptome-analysis-identifies-an-asd-like-phenotype-in-oligodendrocytes-and-microglia-from-c58-j-amygdala-that-is-dependent-on-sex-and-sociability
#24
George D Dalton, Stephen K Siecinski, Viktoriya D Nikolova, Gary P Cofer, Kathryn Hornburg, Yi Qi, G Allan Johnson, Yong-Hui Jiang, Sheryl S Moy, Simon G Gregory
BACKGROUND: Autism Spectrum Disorder (ASD) is a group of neurodevelopmental disorders with higher incidence in males and is characterized by atypical verbal/nonverbal communication, restricted interests that can be accompanied by repetitive behavior, and disturbances in social behavior. This study investigated brain mechanisms that contribute to sociability deficits and sex differences in an ASD animal model. METHODS: Sociability was measured in C58/J and C57BL/6J mice using the 3-chamber social choice test...
January 16, 2024: bioRxiv
https://read.qxmd.com/read/38277627/intracranial-germinoma-in-two-caucasian-american-siblings-with-autism-spectrum-disorder
#25
JOURNAL ARTICLE
Stephanie A Toll, Leigh Anne Flore, Hamza S Gorsi, Neena I Marupudi, Swati Mody, William Kupsky, Zhihong Joanne Wang
Intracranial germ cell tumors (IGCTs) comprise 3% to 5% of all pediatric brain tumors in the West, with a significantly higher prevalence in Asia. Although these tumors are histologically diverse, repeated somatic variants have been demonstrated. Chromosomal aneuploidies, such as Klinefelter and Down syndromes, are associated with IGCTs, but no familial germline tumor syndromes are currently known. Here, we report the novel case of 2 American siblings with underlying autism spectrum disorder who developed intracranial germinoma within months of each other, in the absence of external risk factors...
January 29, 2024: Journal of Pediatric Hematology/oncology
https://read.qxmd.com/read/38272360/epilepsy-and-psychiatric-comorbidities-a-bidirectional-mendelian-randomization-study
#26
JOURNAL ARTICLE
Hongyuan Chu, Bing Wang, Xinyu Zhao, Li Mu
STUDY OBJECTIVES: Psychiatric comorbidities are relatively common among patients with epilepsy; however, the underlying mechanisms of this association remain largely unknown. The objective of this Mendelian randomization (MR) study was to analyze the genetic correlations and causality underlying these reciprocal associations. METHODS: Single-nucleotide polymorphisms associated with epilepsy (29,677 controls and 15,212 cases) and seven psychiatric comorbidities (485,436 controls and 269,495 cases) were identified from genome-wide association studies...
January 23, 2024: Journal of Affective Disorders
https://read.qxmd.com/read/38265752/inferring-the-genetic-effects-of-serum-homocysteine-and-vitamin-b-levels-on-autism-spectral-disorder-through-mendelian-randomization
#27
JOURNAL ARTICLE
Tianyu Jin, Wei Huang, Qiongyi Pang, Zitian He, Linran Yuan, Haojie Zhang, Dalin Xing, Shunyuan Guo, Tong Zhang
PURPOSE: The previous studies have suggested that serum homocysteine (Hcy) and vitamin B levels are potentially related to autism spectrum disorder (ASD). However, the causality between their concentrations and ASD risk remains unclear. To elucidate this genetic association, we used a Mendelian randomization (MR) design. METHODS: For this MR analysis, 47 single-nucleotide polymorphisms (SNPs)-13 related to Hcy, 13 to folate, 14 to vitamin B6, and 7 to vitamin B12-were obtained from a large-scale Genome-Wide Association Studies (GWAS) database and employed as instrumental variables (IVs)...
January 24, 2024: European Journal of Nutrition
https://read.qxmd.com/read/38262954/association-between-psychiatric-disorders-and-glioma-risk-evidence-from-mendelian-randomization-analysis
#28
JOURNAL ARTICLE
Wenzhuo Yang, Yu Han, Changjia He, Sheng Zhong, Fei Ren, Zhongping Chen, Yonggao Mou, Ke Sai
BACKGROUND: Observational studies have explored the association of psychiatric disorders and the risk of brain cancers. However, the causal effect of specific mental illness on glioma remains elusive due to the lack of solid evidence. METHODS: We performed a two-sample bidirectional Mendelian randomization (MR) analysis to explore the causal relationships between 5 common psychiatric disorders (schizophrenia, major depressive disorder, bipolar disorder, autism spectrum disorder, and panic disorder) and glioma...
January 23, 2024: BMC Cancer
https://read.qxmd.com/read/38260575/a-burden-of-rare-copy-number-variants-in-obsessive-compulsive-disorder
#29
Matthew Halvorsen, Elles de Schipper, Julia Boberg, Nora Strom, Kristen Hagen, Kerstin Lindblad-Toh, Elinor Karlsson, Nancy Pedersen, Cynthia Bulik, Bengt Fundín, Mikael Landén, Gerd Kvale, Bjarne Hansen, Jan Haavik, Manuel Mattheisen, Christian Rück, David Mataix-Cols, James Crowley
Current genetic research on obsessive-compulsive disorder (OCD) supports contributions to risk specifically from common single nucleotide variants (SNVs), along with rare coding SNVs and small insertion-deletions (indels). The contribution to OCD risk from large, rare copy number variants (CNVs), however, has not been formally assessed at a similar scale. Here we describe an analysis of rare CNVs called from genotype array data in 2,248 deeply phenotyped OCD cases and 3,608 unaffected controls from Sweden and Norway...
January 3, 2024: Research Square
https://read.qxmd.com/read/38234782/genetic-variants-in-ddx53-contribute-to-autism-spectrum-disorder-associated-with-the-xp22-11-locus
#30
Marcello Scala, Clarrisa A Bradley, Jennifer L Howe, Brett Trost, Nelson Bautista Salazar, Carole Shum, Miriam S Reuter, Jeffrey R MacDonald, Sangyoon Y Ko, Paul W Frankland, Leslie Granger, George Anadiotis, Verdiana Pullano, Alfredo Brusco, Roberto Keller, Sarah Parisotto, Helio F Pedro, Laina Lusk, Pamela Pojomovsky McDonnell, Ingo Helbig, Sureni V Mullegama, Emilie D Douine, Bianca E Russell, Stanley F Nelson, Federico Zara, Stephen W Scherer
Autism Spectrum Disorder (ASD) exhibits an ∼4:1 male-to-female sex bias and is characterized by early-onset impairment of social/communication skills, restricted interests, and stereotyped behaviors. Disruption of the Xp22.11 locus has been associated with ASD in males. This locus includes the three-exon PTCHD1 gene, an adjacent multi-isoform long noncoding RNA (lncRNA) named PTCHD1-AS (spanning ∼1Mb), and a poorly characterized single-exon RNA helicase named DDX53 that is intronic to PTCHD1-AS ...
December 27, 2023: medRxiv
https://read.qxmd.com/read/38233464/neuronal-knockdown-of-cullin3-as-a-drosophila-model-of-autism-spectrum-disorder
#31
JOURNAL ARTICLE
Samantha J Tener, Zhi Lin, Scarlet J Park, Kairaluchi Oraedu, Matthew Ulgherait, Emily Van Beek, Andrés Martínez-Muñiz, Meghan Pantalia, Jared A Gatto, Julia Volpi, Nicholas Stavropoulos, William W Ja, Julie C Canman, Mimi Shirasu-Hiza
Mutations in Cullin-3 (Cul3), a conserved gene encoding a ubiquitin ligase, are strongly associated with autism spectrum disorder (ASD). Here, we characterize ASD-related pathologies caused by neuron-specific Cul3 knockdown in Drosophila. We confirmed that neuronal Cul3 knockdown causes short sleep, paralleling sleep disturbances in ASD. Because sleep defects and ASD are linked to metabolic dysregulation, we tested the starvation response of neuronal Cul3 knockdown flies; they starved faster and had lower triacylglyceride levels than controls, suggesting defects in metabolic homeostasis...
January 17, 2024: Scientific Reports
https://read.qxmd.com/read/38228848/toxocarosis-in-a-patient-with-autism-spectrum-disorder-presenting-with-severe-hypereosinophilia-and-acute-respiratory-distress-a-case-report
#32
JOURNAL ARTICLE
Daniel Üblagger, Herbert Auer, Milina Bezakova, Veronika Kirchlechner
A boy with known autism spectrum disorder was transferred to our department due to a rapidly worsening respiratory situation. The patient's history revealed previous treatment with albendazole against a Toxocara infection 2 weeks prior in Poland. Blood analysis showed such severe eosinophilia and markedly elevated levels of IgE that, initially, a hematologic malignancy was suspected. However, diagnostic workup including autoimmune diagnostic, molecular genetic testing, fluorescence in situ hybridization (FISH), bone marrow aspiration, and parasitological testing led to the diagnosis of an insufficiently treated Toxocara infection...
January 17, 2024: Parasitology Research
https://read.qxmd.com/read/38221678/women-s-attitudes-towards-disclosure-of-genetic-information-in-pregnancy-with-varying-levels-of-penetrance
#33
JOURNAL ARTICLE
Vitalia Libman, Michal Macarov, Yechiel Friedlander, Drorith Hochner-Celnikier, Yishai Sompolinsky, Uri P Dior, Michael Osovsky, Lina Basel-Salmon, Arnon Wiznitzer, Yehuda Neumark, Vardiella Meiner, Ayala Frumkin, Hagit Hochner, Shiri Shkedi-Rafid
BACKGROUND: Chromosomal-microarray-analysis (CMA) may reveal susceptibility-loci (SL) of varied penetrance for autism-spectrum-disorder (ASD) and other neurodevelopmental conditions. Attitudes of women/parents to disclosure of SL during pregnancy are understudied. METHODS: A multiple-choice questionnaire was distributed to postpartum women. Data were collected on women's interest to receive prenatal genetic information with various levels of penetrance. RESULTS: Women's (n = 941) disclosure choices were dependent on the magnitude of risk: approximately 70% supported disclosure of either full or 40% penetrance, 53% supported disclosure at a 20% risk threshold, and 40% supported disclosure at 10% or less...
January 14, 2024: Prenatal Diagnosis
https://read.qxmd.com/read/38214769/early-endocannabinoid-mediated-depolarization-induced-suppression-of-excitation-delays-the-appearance-of-the-epileptic-phenotype-in-synapsin-ii-knockout-mice
#34
JOURNAL ARTICLE
Nicola Forte, Alessandro Nicois, Brenda Marfella, Isabella Mavaro, Livia D'Angelo, Fabiana Piscitelli, Anna Scandurra, Paolo De Girolamo, Pietro Baldelli, Fabio Benfenati, Vincenzo Di Marzo, Luigia Cristino
The mechanism underlying the transition from the pre-symptomatic to the symptomatic state is a crucial aspect of epileptogenesis. SYN2 is a member of a multigene family of synaptic vesicle phosphoproteins playing a fundamental role in controlling neurotransmitter release. Human SYN2 gene mutations are associated with epilepsy and autism spectrum disorder. Mice knocked out for synapsin II (SynII KO) are prone to epileptic seizures that appear after 2 months of age. However, the involvement of the endocannabinoid system, known to regulate seizure development and propagation, in the modulation of the excitatory/inhibitory balance in the epileptic hippocampal network of SynII KO mice has not been explored...
January 12, 2024: Cellular and Molecular Life Sciences: CMLS
https://read.qxmd.com/read/38204740/diagnosis-and-assessment-of-autism-spectrum-disorder-in-south-korea
#35
JOURNAL ARTICLE
Johanna Inhyang Kim, Hee Jeong Yoo
Autism spectrum disorder (ASD) is diagnosed by the clinical decision of a trained professional based on the Diagnostic and Statistical Manual for Mental Disorders, Fifth Edition or International Classification of Diseases 11th Revision diagnostic criteria. To obtain information for diagnostic formulation, professionals should explore detailed developmental history, and can use structured or semi-structured assessment tools to observe interaction between the child and parents or strangers. Diagnostic assessment should include a profile of the strength and weaknesses of the individual and should be conducted using an optimal approach by a multidisciplinary team with appropriate techniques and experience...
January 1, 2024: Soa--chʻŏngsonyŏn chŏngsin ŭihak, Journal of child & adolescent psychiatry
https://read.qxmd.com/read/38191308/association-of-verbal-and-non-verbal-theory-of-mind-abilities-with-non-coding-variants-of-oxtr-in-youth-with-autism-spectrum-disorder-and-typically-developing-individuals-a-case-control-study
#36
JOURNAL ARTICLE
Rana Ghamari, Mohammad Tahmaseb, Atiye Sarabi-Jamab, Seyed-Alireza Etesami, Azar Mohammadzadeh, Fatemeh Alizadeh, Mehdi Tehrani-Doost
BACKGROUND: The ability to attribute mental states to others is called theory of mind (ToM) and is a substantial component of social cognition. This ability is abnormally developed in individuals with autism spectrum disorder (ASD). Several studies over the past decade have identified the oxytocin receptor gene (OXTR) and its variants as promising components for explaining the molecular mechanisms underlying Theory of Mind (ToM). The main aim of this study is to examine the association between rs2268498 and rs53576, two functional single nucleotide polymorphisms (SNPs), and verbal and non-verbal ToM in children and adolescents with ASD and a group of typically developing youth...
January 8, 2024: BMC Psychiatry
https://read.qxmd.com/read/38186518/exploring-early-childhood-autism-spectrum-disorders-a-comprehensive-review-of-diagnostic-approaches-in-young-children
#37
REVIEW
Ruba A Alrehaili, Reem M ElKady, Jumana A Alrehaili, Reem M Alreefi
Autism spectrum disorders (ASD) encompass a diverse range of developmental disabilities characterized by pervasive deficiencies in socialization, communication, and the manifestation of behavioral issues. This review aims to clarify the diagnostic criteria for ASD, explore available diagnostic tools, evaluate biomedical examinations facilitating ASD diagnosis, and discuss the approach to screening assessments for ASD. ASDs are prevalent conditions, with a globally estimated prevalence of 7.6 cases per 100 (one in 132), based on a comprehensive review of epidemiological studies...
December 2023: Curēus
https://read.qxmd.com/read/38180598/combination-of-15q24-microdeletion-syndrome-and-metabolic-imbalance-in-a-patient-with-atypical-autism
#38
JOURNAL ARTICLE
Volodymyr Stefanyshyn, Makar Sheiko, Natalia Pyantkovska, Roman Stetsyuk, Valeriy Pokhylko, Liliia Fishchuk, Zoia Rossokha
Autistic spectrum disorders (ASD) in children are becoming increasingly common, reaching epidemic proportions. Among the various causes contributing to the development of ASD, the leading place belongs to both chromosomal pathologies and genetic syndromes and their consequence - metabolic imbalance or severe metabolic disorders. Depending on the degree of metabolic pathway damage, certain phenotypes of ASD are formed. A deletion of ~3.1 Mb of chromosome 15q24 was detected in the examined 2-year-old boy with a "mild phenotype" of autism without an obvious delay in mental development...
January 5, 2024: Journal of Molecular Neuroscience: MN
https://read.qxmd.com/read/38176751/evaluation-of-catatonia-in-autism-and-severe-depression-revealing-phelan-mcdermid-syndrome-and-tetrahydrobiopterin-deficiency
#39
JOURNAL ARTICLE
Georgia Boley, Joseph Pierri, David Finegold, Lisa Pan
The authors describe a female in her late twenties, presenting with catatonia and diagnosed with epilepsy, autism spectrum disorder, mild intellectual disability, psychosis, dysthymia, anxiety and bipolar disorder, receiving weekly electroconvulsive therapy (ECT). After testing, findings indicated an interstitial deletion in the 22q13.33 region associated with Phelan-McDermid syndrome. In addition, the patient had low cerebral spinal fluid tetrahydrobiopterin (BH4 ) levels, suggesting dysfunction in the pterin biosynthetic pathway...
January 4, 2024: BMJ Case Reports
https://read.qxmd.com/read/38160512/neurodevelopmental-outcomes-in-a-cohort-of-australian-families-with-self-limited-familial-epilepsy-of-neonatal-infantile-onset
#40
JOURNAL ARTICLE
Emily A Innes, Fleur Annette Le Marne, Rebecca Macintosh, Suzanne M Nevin, Nancy E Briggs, Sinthu Vivekanandarajah, Richard I Webster, Rani K Sachdev, Ann M E Bye
OBJECTIVES: To determine: i) seizure recurrence; ii) developmental disability; iii) co-morbidities and risk factors in self-limited familial neonatal and/or infantile epilepsy (SeLFE) in a multigenerational study. METHODS: Families were retrospectively recruited from epilepsy databases (2021-2022) in 2 paediatric hospitals, Sydney, Australia. Eligible families had 2 first degree relatives with seizures and underwent genetic testing. Demographics/clinical data were collected from interviews and medical records...
February 2024: Seizure: the Journal of the British Epilepsy Association
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