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Autism etiology

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https://www.readbyqxmd.com/read/28816000/investigating-facial-phenotype-in-autism-spectrum-conditions-the-importance-of-a-hypothesis-driven-approach
#1
Maryam Boutrus, Murray T Maybery, Gail A Alvares, Diana Weiting Tan, Kandice J Varcin, Andrew J O Whitehouse
Atypical facial characteristics have been observed in many disorders associated with developmental disability. While autism spectrum conditions (ASC) have not previously been thought to be associated with a distinct facial phenotype, an emerging research literature is casting doubt on this assumption. The identification of differences in the facial phenotype of individuals with ASC may contribute to efforts to promote early identification of the condition and help elucidate etiological pathways. With the aim of identifying facial phenotypes associated with ASC, this commentary evaluated facial features purported to distinguish ASC from typical development...
August 17, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28808839/individuals-with-autism-have-higher-8-iso-pgf2%C3%AE-levels-than-controls-but-no-correlation-with-quantitative-assay-of-paraoxonase-1-serum-levels
#2
Bianca Pop, Alexandru-Ștefan Niculae, Tudor Lucian Pop, Andreea Liana Răchișan
Autism spectrum disorder (ASD) represents a very large set of neurodevelopmental issues with diverse clinical outcomes. Various hypotheses have been put forth for the etiology of autism spectrum disorder, including issues pertaining to oxidative stress. In this study, we conducted measurements of serum 8-Iso-Prostaglanding F2 α (8-iso-PGF2α, which is the results of non-enzimatically mediated polyunsaturated fatty acid oxidation) in a population of individuals with autism and a control group of age and sex matched controls...
August 14, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28803755/communicating-complex-genomic-information-a-counselling-approach-derived-from-research-experience-with-autism-spectrum-disorder
#3
Ny Hoang, Cheryl Cytrynbaum, Stephen W Scherer
Individuals with Autism Spectrum Disorder (ASD) share characteristics (impairments in socialization and communication, and repetitive interests and behaviour), but differ in their developmental course, pattern of symptoms, and cognitive and language abilities. The development of standardized phenotyping has revealed ASD to clinically be vastly heterogeneous, ranging from milder presentations to more severe forms associated with profound intellectual disability. Some 100 genes have now been implicated in the etiology of ASD, and advances in genome-wide testing continue to yield new data at an unprecedented rate...
July 29, 2017: Patient Education and Counseling
https://www.readbyqxmd.com/read/28800716/co-occurrence-of-asd-and-adhd-traits-in-an-adult-population
#4
Maria Panagiotidi, Paul G Overton, Tom Stafford
OBJECTIVE: ADHD and autism spectrum disorder (ASD) can be viewed as the extreme end of traits found in the general population. Clinical and genetic studies suggest that ADHD and ASD often co-occur and share genetic susceptibility. The aim of this study was to examine co-occurrence of ADHD and ASD traits in the general population. METHOD: In total, 334 participants were recruited from a population-based sample. Four questionnaires assessing current and retrospective ADHD and ASD traits were administered online: the Adult ADHD Self-Report Scale (ASRS) Symptom Checklist, the Wender Utah Rating Scale (WURS-25), the Broad Autism Phenotype Questionnaire (BAPQ), and the Autism Spectrum Quotient (AQ)...
August 1, 2017: Journal of Attention Disorders
https://www.readbyqxmd.com/read/28799289/prenatal-exposure-to-fever-is-associated-with-autism-spectrum-disorder-in-the-boston-birth-cohort
#5
Martha Brucato, Christine Ladd-Acosta, Mengying Li, Deanna Caruso, Xiumei Hong, Jamie Kaczaniuk, Elizabeth A Stuart, M Daniele Fallin, Xiaobin Wang
Autism spectrum disorder (ASD) is phenotypically and etiologically heterogeneous, with evidence for genetic and environmental contributions to disease risk. Research has focused on the prenatal period as a time where environmental exposures are likely to influence risk for ASD. Epidemiological studies have shown significant associations between prenatal exposure to maternal immune activation (MIA), caused by infections and fever, and ASD. However, due to differences in study design and exposure measurements no consistent patterns have emerged revealing specific times or type of MIA exposure that are most important to ASD risk...
August 11, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28774669/neurodevelopmental-disorders-in-children-with-macrocephaly-a-prevalence-study-and-pten-gene-analysis
#6
Hirofumi Kurata, Kentaro Shirai, Yoshiaki Saito, Tetsuya Okazaki, Koyo Ohno, Masayoshi Oguri, Kaori Adachi, Eiji Nanba, Yoshihiro Maegaki
PURPOSE: To clarify the relationship between macrocephaly and neurodevelopmental disorders, as well as identify the prevalence of PTEN mutations in autism spectrum disorders with macrocephaly in Japan. SUBJECTS AND METHODS: Diagnostic and other medical information of children with macrocephaly younger than 4years (n=93) were collected for analysis. PTEN gene mutation analysis was conducted in another set of 16 macrocephalic individuals aged 3-22years. RESULTS: Sixteen macrocephalic children were associated with neurodevelopmental disorders, including autism spectrum disorders (ASDs) (n=6), autistic traits (n=5), intellectual disability (n=5), attention deficit hyperactivity disorder (n=1), developmental coordination disorders (n=1), and language disorder (n=1)...
July 31, 2017: Brain & Development
https://www.readbyqxmd.com/read/28774571/activation-of-neonatal-microglia-can-be-influenced-by-other-neural-cells
#7
Alexandra Turano, Jennifer H Lawrence, Jaclyn M Schwarz
During development, microglial progenitor cells migrate into the brain from the periphery, a process critical to the maturation of the developing brain. Although they perform functions similar to mature, adult microglia, immature microglia are distinct from mature microglia. Activation of immature microglia, via an early-life immune challenge, can lead to persistent changes in microglial function, resulting in long-term neuronal and cognitive dysfunction. Early-life immune activation is associated with multiple neurodevelopmental disorders, including autism, ADHD, schizophrenia, and cerebral palsy - disorders with known or suspected immune etiologies, and strong sex biases for males...
July 31, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/28770435/implication-of-endoplasmic-reticulum-stress-in-autism-spectrum-disorder
#8
Koichi Kawada, Seisuke Mimori
Autism spectrum disorder (ASD) is categorized as a neurodevelopmental disorder according to the Diagnostic and Statistical Manual of Disorders, Fifth Edition and is defined as a congenital impairment of the central nervous system. ASD may be caused by a chromosomal abnormality or gene mutation. However, these etiologies are insufficient to account for the pathogenesis of ASD. Therefore, we propose that the etiology and pathogenesis of ASD are related to the stress of the endoplasmic reticulum (ER). ER stress, induced by valproic acid, increased in ASD mouse model, characterized by an unfolded protein response that is activated by this stress...
August 2, 2017: Neurochemical Research
https://www.readbyqxmd.com/read/28767925/autism-spectrum-disorders-an-updated-guide-for-genetic-counseling
#9
Karina Griesi-Oliveira, Andréa Laurato Sertié
Autism spectrum disorder is a complex and genetically heterogeneous disorder, which has hampered the identification of the etiological factors in each patient and, consequently, the genetic counseling for families at risk. However, in the last decades, the remarkable advances in the knowledge of genetic aspects of autism based on genetic and molecular research, as well as the development of new molecular diagnostic tools, have substantially changed this scenario. Nowadays, it is estimated that using the currently available molecular tests, a potential underlying genetic cause can be identified in nearly 25% of cases...
April 2017: Einstein
https://www.readbyqxmd.com/read/28767393/immunological-cytokine-profiling-identifies-tnf-%C3%AE-as-a-key-molecule-dysregulated-in-autistic-children
#10
Jiang Xie, Li Huang, Xiaohong Li, Hua Li, Yongmei Zhou, Hua Zhu, Tianying Pan, Keith M Kendrick, Wenming Xu
Recent studies have suggested that the etiology of Autism Spectrum Disorder (ASD) may be caused by immunological factors, particularly abnormalities in the innate immune system. However, it is still unclear which specific cytokines may be of most importance. The current study therefore investigated which cytokines showed altered concentrations in blood in ASD compared with healthy control children and which were also correlated with symptom severity. Our study sample included 32 children diagnosed with ASD and 28 age and sex-matched typically developing children...
July 18, 2017: Oncotarget
https://www.readbyqxmd.com/read/28761347/genetic-and-epigenetic-mechanisms-of-epilepsy-a-review
#11
REVIEW
Tian Chen, Mohan Giri, Zhenyi Xia, Yadu Nanda Subedi, Yan Li
Epilepsy is a common episodic neurological disorder or condition characterized by recurrent epileptic seizures, and genetics seems to play a key role in its etiology. Early linkage studies have localized multiple loci that may harbor susceptibility genes to epilepsy, and mutational analyses have detected a number of mutations involved in both ion channel and nonion channel genes in patients with idiopathic epilepsy. Genome-wide studies of epilepsy have found copy number variants at 2q24.2-q24.3, 7q11.22, 15q11...
2017: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/28761206/comparative-dermatoglyphic-study-between-autistic-patients-and-normal-people-in-iran
#12
Mansoureh Kazemi, Mohammad Reza Fayyazi-Bordbar, Nasser Mahdavi-Shahri
Autism is a neurodevelopmental disorder originating from early childhood; nevertheless, its diagnosis is in older ages. In addition to heredity, environmental factors are also of great significance in the etiology of the disease. Dermatoglyphic patterns, albeit varied, remain stable for a lifetime and yield a large number of patterns upon examination. Studies have shown a significant association between dermatoglyphics and some diseases, especially genetic ones. We compared fingerprints between patients with autism and normal individuals in a Fars population living in Khorasan-Razavi Province, Iran, in 2015...
July 2017: Iranian Journal of Medical Sciences
https://www.readbyqxmd.com/read/28745267/revisiting-subcortical-brain-volume-correlates-of-autism-in-the-abide-dataset-effects-of-age-and-sex
#13
W Zhang, W Groen, M Mennes, C Greven, J Buitelaar, N Rommelse
BACKGROUND: Autism spectrum disorders (ASD) are characterized by substantial clinical, etiological and neurobiological heterogeneity. Despite this heterogeneity, previous imaging studies have highlighted the role of specific cortical and subcortical structures in ASD and have forwarded the notion of an ASD specific neuroanatomy in which abnormalities in brain structures are present that can be used for diagnostic classification approaches. METHOD: A large (N = 859, 6-27 years, IQ 70-130) multi-center structural magnetic resonance imaging dataset was examined to specifically test ASD diagnostic effects regarding (sub)cortical volumes...
July 26, 2017: Psychological Medicine
https://www.readbyqxmd.com/read/28744760/development-and-psychometric-evaluation-of-the-autism-stigma-and-knowledge-questionnaire-ask-q
#14
Ashley J Harrison, Laine P Bradshaw, Nilofer C Naqvi, Madison L Paff, Jonathan M Campbell
ASD knowledge deficits contribute to disparities in the timing and quality of ASD services. To address the limitations with existing measures of ASD knowledge, we developed and examined the Autism Stigma and Knowledge Questionnaire (ASK-Q), which comprehensively assesses multiple subdomains of ASD knowledge while maintaining strong psychometric support and cross-cultural utility. ASK-Q items derived from the published research are organized into four subscales: (i) diagnosis, (ii) etiology, (iii) treatment, and (iv) stigma...
July 25, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28744208/neurodevelopmental-hypothesis-about-the-etiology-of-autism-spectrum-disorders
#15
Toshio Inui, Shinichiro Kumagaya, Masako Myowa-Yamakoshi
Previous models or hypotheses of autism spectral disorder (ASD) failed to take into full consideration the chronological and causal developmental trajectory, leading to the emergence of diverse phenotypes through a complex interaction between individual etiologies and environmental factors. Those phenotypes include persistent deficits in social communication and social interaction (criteria A in DSM-5), and restricted, repetitive patterns of behavior, interests, or activities (criteria B in DSM-5). In this article, we proposed a domain-general model that can explain criteria in DSM-5 based on the assumption that the same etiological mechanism would trigger the various phenotypes observed in different individuals with ASD...
2017: Frontiers in Human Neuroscience
https://www.readbyqxmd.com/read/28738293/oxytocin-effects-on-emotional-response-to-others-faces-via-serotonin-system-in-autism-a-pilot-study
#16
Mina Fukai, Tetsu Hirosawa, Mitsuru Kikuchi, Yasuomi Ouchi, Tetsuya Takahashi, Yuko Yoshimura, Yoshiaki Miyagishi, Hirotaka Kosaka, Masamichi Yokokura, Etsuji Yoshikawa, Tomoyasu Bunai, Yoshio Minabe
The oxytocin (OT)-related serotonergic system is thought to play an important role in the etiology and social symptoms of autism spectrum disorder (ASD). However, no evidence exists for the relation between the prosocial effect of chronic OT administration and the brain serotonergic system. Ten male subjects with ASD were administered OT for 8-10 weeks in an open-label, single-arm, non-randomized, uncontrolled manner. Before and during the OT treatment, positron emission tomography was used with the ((11)C)-3-amino-4-(2-[(demethylamino)methyl]phenylthio)benzonitrile((11)C-DASB) radiotracer...
June 28, 2017: Psychiatry Research
https://www.readbyqxmd.com/read/28738196/parental-age-and-the-risk-of-obsessive-compulsive-disorder-and-tourette-syndrome-chronic-tic-disorder-in-a-nationwide-population-based-sample
#17
Roshan Chudal, Susanna Leivonen, Hanna Rintala, Susanna Hinkka-Yli-Salomäki, Andre Sourander
OBJECTIVES: Advancing paternal age has been associated with several neuropsychiatric disorders in children. However, there is limited understanding of this association with obsessive compulsive disorder (OCD) and Tourette syndrome/chronic tic disorder (TS/CT) with inconsistent findings. We examined the association between parental age and offspring OCD and TS/CT. METHODS: This nested case-control study used the Finnish Hospital Discharge Register (FHDR) to identify 1358 individuals with OCD and 1195 with TS/CT, born from 1991 to 2009 and diagnosed by 2010...
July 18, 2017: Journal of Affective Disorders
https://www.readbyqxmd.com/read/28734238/decreased-levels-of-g-protein-coupled-estrogen-receptor-in-children-with-autism-spectrum-disorders
#18
Hatice Altun, Ergül Belge Kurutaş, Nilfer Şahin, Hayati Sınır, Ebru Fındıklı
Sex hormones, specially estrogen, and ıt is receptors plays a critical role in the pathogenesis of psychiatric disorders including autism spectrum disorders (ASD). The aim of this study was to investigate the relationship between ASD and G protein-coupled estrogen receptor (GPER), a recently discovered estrogen receptors, and also to study the relation of serum GPER levels with the severity of autistic symptoms. The present study included 45 children with drug naive ASD diagnosed by DSM-V criteria, aged between 3 and 12 years and 40 age- and gender-matched healthy controls...
June 6, 2017: Psychiatry Research
https://www.readbyqxmd.com/read/28724385/increase-of-cytosolic-phospholipase-a2-as-hydrolytic-enzyme-of-phospholipids-and-autism-cognitive-social-and-sensory-dysfunction-severity
#19
Hanan Qasem, Laila Al-Ayadhi, Hussain Al Dera, Afaf El-Ansary
BACKGROUND: Autism is neurodevelopmental disorder that is characterized by developmental, behavioral, social and sensory abnormalities. Researchers have focused in last years in immunological alteration and inflammation as a hot subject in autism field. This work aims to study the alteration in phospholipids (PE, PS, and PC) together with the change in cPLA2 concentration as the main phospholipid hydrolytic enzyme in autistic patients compared to control. It was also extended to find a correlation between these biomarkers and severity of autism measured as childhood autism rating scale (CARS), Social responsiveness scale (SRS), and Short sensory profile (SSP)...
June 15, 2017: Lipids in Health and Disease
https://www.readbyqxmd.com/read/28716727/systematic-review-and-meta-analysis-links-autism-and-toxic-metals-and-highlights-the-impact-of-country-development-status-higher-blood-and-erythrocyte-levels-for-mercury-and-lead-and-higher-hair-antimony-cadmium-lead-and-mercury
#20
REVIEW
Amene Saghazadeh, Nima Rezaei
BACKGROUND: Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental disorder that affects cognitive and higher cognitive functions. Increasing prevalence of ASD and high rates of related comorbidities has caused serious health loss and placed an onerous burden on the supporting families, caregivers, and health care services. Heavy metals are among environmental factors that may contribute to ASD. However, due to inconsistencies across studies, it is still hard to explain the association between ASD and toxic metals...
July 14, 2017: Progress in Neuro-psychopharmacology & Biological Psychiatry
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