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Autism etiology

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https://www.readbyqxmd.com/read/28724385/increase-of-cytosolic-phospholipase-a2-as-hydrolytic-enzyme-of-phospholipids-and-autism-cognitive-social-and-sensory-dysfunction-severity
#1
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
#2
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
https://www.readbyqxmd.com/read/28691768/microbiome-inflammation-epigenetic-alterations-and-mental-diseases
#3
REVIEW
Reza Alam, Hamid M Abdolmaleky, Jin-Rong Zhou
Major mental diseases such as autism, bipolar disorder, schizophrenia, and major depressive disorder are debilitating illnesses with complex etiologies. Recent findings show that the onset and development of these illnesses cannot be well described by the one-gene; one-disease approach. Instead, their clinical presentation is thought to result from the regulative interplay of a large number of genes. Even though the involvement of many genes are likely, up regulating and activation or down regulation and silencing of these genes by the environmental factors play a crucial role in contributing to their pathogenesis...
July 10, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28689312/sleep-chronotype-and-sleep-hygiene-in-children-with-attention-deficit-hyperactivity-disorder-autism-spectrum-disorder-and-controls
#4
K B van der Heijden, R J Stoffelsen, A Popma, H Swaab
Sleep problems are highly prevalent in ADHD and autism spectrum disorder (ASD). Better insight in the etiology is of clinical importance since intervention and prevention strategies of sleep problems are directed at underlying mechanisms. We evaluated the association of sleep problems and sleep patterns with sleep hygiene (behavioral/environmental practices that influence sleep quality, e.g. caffeine use), access to electronic media, chronotype, and anxiety/depression in children aged 6-12 years with ADHD, ASD, or typical development (TD) using parental questionnaires...
July 8, 2017: European Child & Adolescent Psychiatry
https://www.readbyqxmd.com/read/28681355/impaired-redox-control-in-autism-spectrum-disorders-could-it-be-the-x-in-gxe
#5
REVIEW
Vanja Mandic-Maravic, Marija Pljesa-Ercegovac, Marija Mitkovic-Voncina, Ana Savic-Radojevic, Dusica Lecic-Tosevski, Tatjana Simic, Milica Pejovic-Milovancevic
PURPOSE OF REVIEW: This review aims to provide a brief description of the complex etiology of autism spectrum disorders (ASD), with special emphasis on the recent findings of impaired redox control in ASD, and to suggest a possible model of oxidative stress-specific gene-environment interaction in this group of disorders. RECENT FINDINGS: Recent findings point out to the significance of environmental, prenatal, and perinatal factors in ASD but, at the same time, are in favor of the potentially significant oxidative stress-specific gene-environment interaction in ASD...
August 2017: Current Psychiatry Reports
https://www.readbyqxmd.com/read/28681252/provision-of-genetic-services-for-autism-and-its-impact-on-spanish-families
#6
Marta Codina-Solà, Luis A Pérez-Jurado, Ivon Cuscó, Clara Serra-Juhé
Although a genetic evaluation can identify the etiology in 15-30% of individuals with autism spectrum disorder, several studies show an underuse of genetic services by affected families. We have explored the access to genetic services and perception of genetics and recurrence risk in parents of autistic children in Spain. Despite the high interest in genetics, our results show a remarkable underutilization of genetic services, with only 30% of families having visited a genetic service and 13% of patients having undergone the recommended genetic test...
July 5, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28680319/increased-hyperacusis-with-risperidone-in-an-autistic-child
#7
Aslı Sürer Adanir, Özge Gizli Çoban, Esin Özatalay
Autistic spectrum disorder is a neurodevelopmental disorder characterized by qualitative impairment in social interactions and communication skills. In addition to these core features, sensory processing abnormalities such as auditory hypersensitivity have been frequently reported. Although the cause of auditory hypersensitivity remains unknown, it is thought to be associated with decreased inhibitory processing, possibly resulting from an abnormal sensory gating system or dysfunction of inhibitory interneurons...
June 2017: Noro Psikiyatri Arsivi
https://www.readbyqxmd.com/read/28676566/micrornas-in-neural-development-from-master-regulators-to-fine-tuners
#8
REVIEW
Marek Rajman, Gerhard Schratt
The proper formation and function of neuronal networks is required for cognition and behavior. Indeed, pathophysiological states that disrupt neuronal networks can lead to neurodevelopmental disorders such as autism, schizophrenia or intellectual disability. It is well-established that transcriptional programs play major roles in neural circuit development. However, in recent years, post-transcriptional control of gene expression has emerged as an additional, and probably equally important, regulatory layer...
July 1, 2017: Development
https://www.readbyqxmd.com/read/28665792/status-of-essential-elements-in-autism-spectrum-disorder-systematic-review-and-meta-analysis
#9
REVIEW
Amene Saghazadeh, Narges Ahangari, Kasra Hendi, Fatemeh Saleh, Nima Rezaei
Autism spectrum disorder (ASD) is a lifelong neurodevelopmental disorder that imposes heavy financial burden on governments and families of affected children. It is considered a multifactorial condition, where trace elements are among environmental factors that may contribute to ASD. Meanwhile, the between-study variance is high. The present systematic review was designed to investigate the difference in trace element measures between patients with ASD and control subjects. Meta-analyses showed that the hair concentrations of chromium (p=0...
June 29, 2017: Reviews in the Neurosciences
https://www.readbyqxmd.com/read/28661580/a-review-of-endophenotypes-in-schizophrenia-and-autism-the-next-phase-for-understanding-genetic-etiologies
#10
Lisabeth F DiLalla, Megan McCrary, Emma Diaz
Many psychiatric disorders are caused by multiple genes and multiple environmental factors, making the identification of specific genetic risk factors for these disorders difficult. Endophenotypes are behaviors or characteristics that are intermediate between the genotype and a phenotype of interest. Because they are more directly related to the gene action than is the endpoint disorder, they may be useful in the identification of specific genes related to psychiatric disorders and the classification of disorders or traits that share an underlying genetic etiology...
June 29, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28661468/study-on-the-association-among-mycotoxins-and-other-variables-in-children-with-autism
#11
Barbara De Santis, Maria Elisabetta Raggi, Giorgio Moretti, Francesco Facchiano, Alessandra Mezzelani, Laura Villa, Arianna Bonfanti, Alessandra Campioni, Stefania Rossi, Serena Camposeo, Sabina Soricelli, Gabriele Moracci, Francesca Debegnach, Emanuela Gregori, Francesca Ciceri, Luciano Milanesi, Anna Marabotti, Carlo Brera
Environmental factors and genetic susceptibility are implicated in the increased risk of autism spectrum disorder (ASD). Mycotoxins are agricultural contaminants of fungal origin that represent real risk factors for human health and especially for children. Thus, the main hypothesis of this work is that the deterioration of the clinical manifestation of autism in children may result from the exposure to mycotoxins through the consumption of contaminated food. Within a cross-sectional study, a group of autistic children (n = 172) and a group of controls (n = 61) (siblings and non-parental) were recruited in North and South Italy...
June 29, 2017: Toxins
https://www.readbyqxmd.com/read/28649445/variable-phenotype-expression-in-a-family-segregating-microdeletions-of-the-nrxn1-and-mbd5-autism-spectrum-disorder-susceptibility-genes
#12
Marc Woodbury-Smith, Rob Nicolson, Mehdi Zarrei, Ryan K C Yuen, Susan Walker, Jennifer Howe, Mohammed Uddin, Ny Hoang, Janet A Buchanan, Christina Chrysler, Ann Thompson, Peter Szatmari, Stephen W Scherer
Autism Spectrum Disorder (ASD) is a developmental condition of early childhood onset, which impacts socio-communicative functioning and is principally genetic in etiology. Currently, more than 50 genomic loci are deemed to be associated with susceptibility to ASD, showing de novo and inherited unbalanced copy number variants (CNVs) and smaller insertions and deletions (indels), more complex structural variants (SVs), as well as single nucleotide variants (SNVs) deemed of pathological significance. However, the phenotypes associated with many of these genes are variable, and penetrance is largely unelaborated in clinical descriptions...
May 3, 2017: NPJ Genomic Medicine
https://www.readbyqxmd.com/read/28649314/hierarchical-cortical-transcriptome-disorganization-in-autism
#13
Michael V Lombardo, Eric Courchesne, Nathan E Lewis, Tiziano Pramparo
BACKGROUND: Autism spectrum disorders (ASD) are etiologically heterogeneous and complex. Functional genomics work has begun to identify a diverse array of dysregulated transcriptomic programs (e.g., synaptic, immune, cell cycle, DNA damage, WNT signaling, cortical patterning and differentiation) potentially involved in ASD brain abnormalities during childhood and adulthood. However, it remains unclear whether such diverse dysregulated pathways are independent of each other or instead reflect coordinated hierarchical systems-level pathology...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28647013/autism-spectrum-symptoms-in-a-tourette-s-disorder-sample
#14
Sabrina M Darrow, Marco Grados, Paul Sandor, Matthew E Hirschtritt, Cornelia Illmann, Lisa Osiecki, Yves Dion, Robert King, David Pauls, Cathy L Budman, Danielle C Cath, Erica Greenberg, Gholson J Lyon, William M McMahon, Paul C Lee, Kevin L Delucchi, Jeremiah M Scharf, Carol A Mathews
OBJECTIVE: Tourette's disorder (TD) and autism spectrum disorder (ASD) share clinical features and possibly an overlapping etiology. The aims of this study were to examine ASD symptom rates in participants with TD, and to characterize the relationships between ASD symptom patterns and TD, obsessive-compulsive disorder (OCD), and attention-deficit/hyperactivity disorder (ADHD). METHOD: Participants with TD (n = 535) and their family members (n =234) recruited for genetic studies reported TD, OCD, and ADHD symptoms and completed the Social Responsiveness Scale Second Edition (SRS), which was used to characterize ASD symptoms...
July 2017: Journal of the American Academy of Child and Adolescent Psychiatry
https://www.readbyqxmd.com/read/28631035/brief-report-the-negev-hospital-university-based-hub-autism-database
#15
Gal Meiri, Ilan Dinstein, Analya Michaelowski, Hagit Flusser, Michal Ilan, Michal Faroy, Asif Bar-Sinai, Liora Manelis, Dana Stolowicz, Lili Lea Yosef, Nadav Davidovitch, Hava Golan, Shosh Arbelle, Idan Menashe
Elucidating the heterogeneous etiologies of autism will require investment in comprehensive longitudinal data acquisition from large community based cohorts. With this in mind, we have established a hospital-university-based (HUB) database of autism which incorporates prospective and retrospective data from a large and ethnically diverse population. The collected data includes social-demographic characteristics, standardized behavioral testing, detailed clinical history from electronic patient records, genetic samples, and various neurological measures...
June 19, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28625682/are-circadian-rhythms-new-pathways-to-understand-autism-spectrum-disorder
#16
M-M Geoffray, A Nicolas, M Speranza, N Georgieff
Autism Spectrum Disorder (ASD) is a frequent neurodevelopmental disorder. ASD is probably the result of intricate interactions between genes and environment altering progressively the development of brain structures and functions. Circadian rhythms are a complex intrinsic timing system composed of almost as many clocks as there are body cells. They regulate a variety of physiological and behavioral processes such as the sleep-wake rhythm. ASD is often associated with sleep disorders and low levels of melatonin...
June 19, 2017: Journal of Physiology, Paris
https://www.readbyqxmd.com/read/28609577/cerebrolysin-prevents-deficits-in-social-behavior-repetitive-conduct-and-synaptic-inhibition-in-a-rat-model-of-autism
#17
Roberto Cuevas-Olguin, Swagata Roychowdhury, Anwesha Banerjee, Francisco Garcia-Oscos, Eric Esquivel-Rendon, María Elena Bringas, Michael P Kilgard, Gonzalo Flores, Marco Atzori
Autism spectrum disorder (ASD) is a syndrome of diverse neuropsychiatric diseases of growing incidence characterized by repetitive conduct and impaired social behavior and communication for which effective pharmacological treatment is still unavailable. While the mechanisms and etiology of ASD are still unknown, a consensus is emerging about the synaptic nature of the syndrome, suggesting a possible avenue for pharmacological treatment with synaptogenic compounds. The peptidic mixture cerebrolysin (CBL) has been successfully used during the last three decades in the treatment of stroke and neurodegenerative disease...
June 13, 2017: Journal of Neuroscience Research
https://www.readbyqxmd.com/read/28608855/mice-lacking-the-chromodomain-helicase-dna-binding-5-chromatin-remodeler-display-autism-like-characteristics
#18
M T Pisansky, A E Young, M B O'Connor, I I Gottesman, A Bagchi, J C Gewirtz
Although autism spectrum disorders (ASDs) share a core set of nosological features, they exhibit substantial genetic heterogeneity. A parsimonious hypothesis posits that dysregulated epigenetic mechanisms represent common pathways in the etiology of ASDs. To investigate this hypothesis, we generated a novel mouse model resulting from brain-specific deletion of chromodomain helicase DNA-binding 5 (Chd5), a chromatin remodeling protein known to regulate neuronal differentiation and a member of a gene family strongly implicated in ASDs...
June 13, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28608572/identification-of-candidate-genes-involved-in-the-etiology-of-sporadic-tourette-syndrome-by-exome-sequencing
#19
Yosuke Eriguchi, Hitoshi Kuwabara, Aya Inai, Yuki Kawakubo, Fumichika Nishimura, Chihiro Kakiuchi, Mamoru Tochigi, Jun Ohashi, Naoto Aoki, Kayoko Kato, Hiroyuki Ishiura, Jun Mitsui, Shoji Tsuji, Koichiro Doi, Jun Yoshimura, Shinichi Morishita, Takafumi Shimada, Masaomi Furukawa, Tadashi Umekage, Tsukasa Sasaki, Kiyoto Kasai, Yukiko Kano
Tourette Syndrome (TS) is a neurodevelopmental disorder characterized by chronic motor and vocal tics. Although there is a large genetic contribution, the genetic architecture of TS remains unclear. Exome sequencing has successfully revealed the contribution of de novo mutations in sporadic cases with neuropsychiatric disorders such as autism and schizophrenia. Here, using exome sequencing, we investigated de novo mutations in individuals with sporadic TS to identify novel risk loci and elucidate the genetic background of TS...
June 13, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28608247/tryptophan-status-in-autism-spectrum-disorder-and-the-influence-of-supplementation-on-its-level
#20
Joanna Kałużna-Czaplińska, Jagoda Jóźwik-Pruska, Salvatore Chirumbolo, Geir Bjørklund
Recent reports show that the worldwide incidence of autism spectrum disorder (ASD) is dramatically increasing, although ASD etiology and pathogenesis are still far to be fully elucidated. Some dietary-derived essential compounds, such as the amino acid tryptophan, appear to be impaired in patients with ASD. Tryptophan (Trp) plays a significant role in the human organism and serves as a precursor for a wide range of bioactive compounds, including major neurotransmitters. Research indicates that tryptophan might be deficient in subjects with ASD...
June 12, 2017: Metabolic Brain Disease
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