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https://www.readbyqxmd.com/read/29322246/de-novo-variants-in-setd1b-are-associated-with-intellectual-disability-epilepsy-and-autism
#1
Takuya Hiraide, Mitsuko Nakashima, Kaori Yamoto, Tokiko Fukuda, Mitsuhiro Kato, Hiroko Ikeda, Yoko Sugie, Kazushi Aoto, Tadashi Kaname, Kazuhiko Nakabayashi, Tsutomu Ogata, Naomichi Matsumoto, Hirotomo Saitsu
SETD1B (SET domain containing 1B) is a component of SET1 histone methyltransferase complex, which mediates the methylation of histone H3 on lysine 4 (H3K4). Here, we describe two unrelated individuals with de novo variants in SETD1B identified by trio-based whole exome sequencing: c.5524C>T, p.(Arg1842Trp) and c.5575C>T, p.(Arg1859Cy). The two missense variants occurred at evolutionarily conserved amino acids and are located within the SET domain, which plays a pivotal role in catalyzing histone methylation...
January 10, 2018: Human Genetics
https://www.readbyqxmd.com/read/29317608/epigenetics-and-cerebral-organoids-promising-directions-in-autism-spectrum-disorders
#2
REVIEW
Sheena Louise Forsberg, Mirolyuba Ilieva, Tanja Maria Michel
Autism spectrum disorders (ASD) affect 1 in 68 children in the US according to the Centers for Disease Control and Prevention (CDC). It is characterized by impairments in social interactions and communication, restrictive and repetitive patterns of behaviors, and interests. Owing to disease complexity, only a limited number of treatment options are available mainly for children that alleviate but do not cure the debilitating symptoms. Studies confirm a genetic link, but environmental factors, such as medications, toxins, and maternal infection during pregnancy, as well as birth complications also play a role...
January 10, 2018: Translational Psychiatry
https://www.readbyqxmd.com/read/29317216/multisensory-temporal-binding-window-in-autism-spectrum-disorders-and-schizophrenia-spectrum-disorders-a-systematic-review-and-meta-analysis
#3
REVIEW
Han-Yu Zhou, Xin-Lu Cai, Michael Weigl, Peter Bang, Eric F C Cheung, Raymond C K Chan
Multisensory temporal integration could be compromised in both autism spectrum disorders (ASD) and schizophrenia spectrum disorders (SSD) and may play an important role in perceptual and cognitive impairment in these two disorders. This review aimed to quantitatively compare the sensory temporal acuity between healthy controls and the two clinical groups (ASD and SSD). Impairment of sensory temporal integration was robust and comparable in both patients with SSD (Hedges' g=0.91, 95%CI[0.62-1.19]; Z=6.21, p<...
January 6, 2018: Neuroscience and Biobehavioral Reviews
https://www.readbyqxmd.com/read/29316320/human-microbiota-blood-group-antigens-and-disease
#4
REVIEW
D Rose Ewald, Susan C J Sumner
Far from being just "bugs in our guts," the microbiota interacts with the body in previously unimagined ways. Research into the genome and the microbiome has revealed that the human body and the microbiota have a long-established but only recently recognized symbiotic relationship; homeostatic balance between them regulates body function. That balance is fragile, easily disturbed, and plays a fundamental role in human health-our very survival depends on the healthy functioning of these microorganisms. Increasing rates of cardiovascular, autoimmune, and inflammatory diseases, as well as epidemics in obesity and diabetes in recent decades are believed to be explained, in part, by unintended effects on the microbiota from vaccinations, poor diets, environmental chemicals, indiscriminate antibiotic use, and "germophobia...
January 9, 2018: Wiley Interdisciplinary Reviews. Systems Biology and Medicine
https://www.readbyqxmd.com/read/29313178/brief-report-caregiver-strategy-implementation-advancing-spoken-communication-in-children-who-are-minimally-verbal
#5
Stephanie Y Shire, Wendy Shih, Connie Kasari
Research has demonstrated that caregivers' use of intervention strategies can support their children's social engagement and communication. However, it is not clear to what degree caregivers must master the strategies to effectively support gains in social communication, specifically, core challenges such as joint attention language (comments). Twenty-two minimally verbal school-age children with autism received a social communication intervention with caregiver coaching. Through 10 min caregiver-child play interactions at eight time points, significant increase were found in children's spontaneous language...
January 8, 2018: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/29306985/children-with-autism-spectrum-disorder-have-unstable-neural-responses-to-sound
#6
Sebastian Otto-Meyer, Jennifer Krizman, Travis White-Schwoch, Nina Kraus
Autism spectrum disorder (ASD) is diverse, manifesting in a wide array of phenotypes. However, a consistent theme is reduced communicative and social abilities. Auditory processing deficits have been shown in individuals with ASD-these deficits may play a role in the communication difficulties ASD individuals experience. Specifically, children with ASD have delayed neural timing and poorer tracking of a changing pitch relative to their typically developing peers. Given that accurate processing of sound requires highly coordinated and consistent neural activity, we hypothesized that these auditory processing deficits stem from a failure to respond to sound in a consistent manner...
January 6, 2018: Experimental Brain Research. Experimentelle Hirnforschung. Expérimentation Cérébrale
https://www.readbyqxmd.com/read/29304784/ethical-aspects-of-diagnosis-and-interventions-for-children-with-fetal-alcohol-spectrum-disorder-fasd-and-their-families
#7
Gert Helgesson, Göran Bertilsson, Helena Domeij, Gunilla Fahlström, Emelie Heintz, Anders Hjern, Christina Nehlin Gordh, Viviann Nordin, Jenny Rangmar, Ann-Margret Rydell, Viveka Sundelin Wahlsten, Monica Hultcrantz
BACKGROUND: Fetal alcohol spectrum disorders (FASD) is an umbrella term covering several conditions for which alcohol consumption during pregnancy is taken to play a causal role. The benefit of individuals being identified with a condition within FASD remains controversial. The objective of the present study was to identify ethical aspects and consequences of diagnostics, interventions, and family support in relation to FASD. METHODS: Ethical aspects relating to diagnostics, interventions, and family support regarding FASD were compiled and discussed, drawing on a series of discussions with experts in the field, published literature, and medical ethicists...
January 5, 2018: BMC Medical Ethics
https://www.readbyqxmd.com/read/29301665/parental-rheumatoid-arthritis-and-autism-spectrum-disorders-in-offspring-a-danish-nationwide-cohort%C3%A2-study
#8
Ane Lilleøre Rom, Chun Sen Wu, Jørn Olsen, Damini Jawaheer, Merete Lund Hetland, Lina Steinrud Mørch
OBJECTIVE: Maternal rheumatoid arthritis (RA) has been associated with an increased risk of autism spectrum disorder (ASD) in the offspring. We assessed the potential influence of both maternal and paternal RA on the risk of ASD in offspring to disentangle the influence of genetic inheritance from other conditions potentially leading to fetal programming. METHOD: The nationwide cohort study included all children born alive from 1977 to 2008 in Denmark (N = 1,917,723)...
January 2018: Journal of the American Academy of Child and Adolescent Psychiatry
https://www.readbyqxmd.com/read/29296085/epilepsy-in-patients-with-autism-links-risks-and-treatment-challenges
#9
REVIEW
Frank Mc Besag
Autism is more common in people with epilepsy, approximately 20%, and epilepsy is more common in people with autism with reported rates of approximately 20%. However, these figures are likely to be affected by the current broader criteria for autism spectrum disorder (ASD), which have contributed to an increased prevalence of autism, with the result that the rate for ASD in epilepsy is likely to be higher and the figure for epilepsy in ASD is likely to be lower. Some evidence suggests that there are two peaks of epilepsy onset in autism, in infancy and adolescence...
2018: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/29286389/differentiation-of-mouse-embryonic-stem-cells-into-cortical-interneuron-precursors
#10
David J Tischfield, Stewart A Anderson
GABAergic cortical interneurons are a heterogeneous population of cells that play critical roles in regulating the output of excitatory pyramidal neurons as well as synchronizing the outputs of pyramidal neuron ensembles. Deficits in interneuron function have been implicated in a variety of neuropsychiatric disorders, including schizophrenia, autism, and epilepsy. The derivation of cortical interneurons from embryonic stem cells not only allows for the study of their development and function, but provides insight into the molecular mechanisms underlying the pathogenesis of cortical interneuron-related disorders...
December 3, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/29280711/efficacy-of-occupational-therapy-using-ayres-sensory-integration%C3%A2-a-systematic-review
#11
Roseann C Schaaf, Rachel L Dumont, Marian Arbesman, Teresa A May-Benson
This systematic review addresses the question "What is the efficacy of occupational therapy using Ayres Sensory Integration® (ASI) to support functioning and participation as defined by the International Classification of Functioning, Disability and Health for persons with challenges in processing and integrating sensory information that interfere with everyday life participation?" Three randomized controlled trials, 1 retroactive analysis, and 1 single-subject ABA design published from 2007 to 2015, all of which happened to study children with autism, met inclusion criteria...
January 2018: American Journal of Occupational Therapy: Official Publication of the American Occupational Therapy Association
https://www.readbyqxmd.com/read/29277311/targeting-gut-microbiome-a-novel-and-potential-therapy-for-autism
#12
REVIEW
Yongshou Yang, Jinhu Tian, Bo Yang
Autism spectrum disorder (ASD) is a severely neurodevelopmental disorder that impairs a child's ability to communicate and interact with others. Children with neurodevelopmental disorder, including ASD, are regularly affected by gastrointestinal problems and dysbiosis of gut microbiota. On the other hand, humans live in a co-evolutionary association with plenty of microorganisms that resident on the exposed and internal surfaces of our bodies. The microbiome, refers to the collection of microbes and their genetic material, confers a variety of physiologic benefits to the host in many key aspects of life as well as being responsible for some diseases...
December 22, 2017: Life Sciences
https://www.readbyqxmd.com/read/29277263/genetics-of-human-epilepsies-continuing-progress
#13
Pierre Szepetowski
Numerous epilepsy genes have been identified in the last years, mostly in the (rare) monogenic forms and thanks to the increased availability and the decreased cost of next-generation sequencing approaches. Besides the somehow expected group of epilepsy genes encoding various ion channel subunits (e.g. sodium or potassium channel subunits, or GABA receptors, or glutamate-gated NMDA receptors), more diversity has emerged recently, with novel epilepsy genes encoding proteins playing a wide range of physiological roles at the cellular and molecular levels, such as synaptic proteins, members of the mTOR pathway, or proteins involved in chromatin remodeling...
December 22, 2017: La Presse Médicale
https://www.readbyqxmd.com/read/29276530/inattention-and-hyperactivity-in-association-with-autism-spectrum-disorders-in-the-charge-study
#14
Kristen Lyall, Julie B Schweitzer, Rebecca J Schmidt, Irva Hertz-Picciotto, Marjorie Solomon
Background: Attention deficits in young children with autism spectrum disorder (ASD) are not well understood. This study sought to determine: 1) the prevalence of ADHD symptoms in young children with ASD, typical development (TD), and developmental delay (DD) and 2) the association between ADHD symptoms and cognitive and behavioral functioning in children with ASD. Method: ADHD symptoms, defined according to Aberrant Behavior Checklist (ABC) hyperactivity subscale scores, were compared across children aged 2-5 from a large case-control study with ASD (n=548), TD (n=423), and DD (n=180)...
March 2017: Research in Autism Spectrum Disorders
https://www.readbyqxmd.com/read/29275793/analysis-of-evidence-based-autism-symptoms%C3%A2-enhancement-by-acupuncture
#15
REVIEW
Hassan M M Abo Almaali, Ameer Gelewkhan, Zena A A Mahdi
Autism is considered as a complex developmental disability that appears during the first two years of life. It is considered as a neurological disorder that affects brain function leading to impaired development in social interaction and communication skills. Some clinical trials demonstrated that certain acupuncture points play relatively significant role in improving both signs and symptoms of this disease. Owing to limited information available about acupuncture point's combination and protocols, the present study aimed to explore the most frequently used acupuncture points and their channels for children with autism...
December 2017: Journal of Acupuncture and Meridian Studies
https://www.readbyqxmd.com/read/29274095/alterations-in-ca1-hippocampal-synapses-in-a-mouse-model-of-fragile-x-syndrome
#16
Safdar Jawaid, Grahame J Kidd, Jing Wang, Carrie Swetlik, Ranjan Dutta, Bruce D Trapp
Fragile X Syndrome (FXS) is the major cause of inherited mental retardation and the leading genetic cause of Autism spectrum disorders. FXS is caused by mutations in the Fragile X Mental Retardation 1 (Fmr1) gene, which results in transcriptional silencing of Fragile X Mental Retardation Protein (FMRP). To elucidate cellular mechanisms involved in the pathogenesis of FXS, we compared dendritic spines in the hippocampal CA1 region of adult wild-type (WT) and Fmr1 knockout (Fmr1-KO) mice. Using diolistic labeling, confocal microscopy, and three-dimensional electron microscopy, we show a significant increase in the diameter of secondary dendrites, an increase in dendritic spine density, and a decrease in mature dendritic spines in adult Fmr1-KO mice...
December 23, 2017: Glia
https://www.readbyqxmd.com/read/29260439/eye-movement-research-in-the-twenty-first-century-a-window-to-the-brain-mind-and-more
#17
EDITORIAL
Aasef G Shaikh, David S Zee
The study of eye movements not only addresses debilitating neuro-ophthalmological problems but has become an essential tool of basic neuroscience research. Eye movements are a classic way to evaluate brain function-traditionally in disorders affecting the brainstem and cerebellum. Abnormalities of eye movements have localizing value and help narrow the differential diagnosis of complex neurological problems. More recently, using sophisticated behavioral paradigms, measurement of eye movements has also been applied to disorders of the thalamus, basal ganglia, and cerebral cortex...
December 19, 2017: Cerebellum
https://www.readbyqxmd.com/read/29251835/child-and-family-characteristics-moderate-agreement-between-caregiver-and-clinician-report-of-autism-symptoms
#18
Emily Neuhaus, Theodore P Beauchaine, Raphael A Bernier, Sara J Webb
Rates of autism spectrum disorder (ASD) and age at first diagnosis vary considerably across the United States and are moderated by children's sex, race, ethnicity, and availability of services. We additionally suggest that degree of caregiver-clinician agreement on ASD symptoms may play a role in ASD assessment. Since gold standard ASD assessment integrates caregiver-reported developmental history with clinician observations, differential agreement between reporters across demographic groups may contribute to a host of detrimental outcomes...
December 18, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/29248917/the-home-literacy-environment-of-preschool-age-children-with-autism-or-down-syndrome
#19
Marleen Westerveld, Anne K van Bysterveldt
AIMS: This exploratory study investigated if there were differences in the home literacy environment of preschool children on the autism spectrum and preschool children with Down syndrome to determine if the home literacy environment may potentially be associated with strengths or weaknesses in children's social communication skills. METHODS: A total of 111 parents of preschoolers with identified disabilities completed a home literacy questionnaire. RESULTS: Results indicated that both groups of parents started reading to their children at an early age and owned at least 25 children's books...
2017: Folia Phoniatrica et Logopaedica
https://www.readbyqxmd.com/read/29244827/neuroligin-4x-overexpression-in-human-breast-cancer-is-associated-with-poor-relapse-free-survival
#20
Henry J Henderson, Balasubramanyam Karanam, Rajeev Samant, Komal Vig, Shree R Singh, Clayton Yates, Deepa Bedi
The molecular mechanisms involved in breast cancer progression and metastasis still remain unclear to date. It is a heterogeneous disease featuring several different phenotypes with consistently different biological characteristics. Neuroligins are neural cell adhesion molecules that have been implicated in heterotopic cell adhesion. In humans, alterations in neuroligin genes are implicated in autism and other cognitive diseases. Until recently, neuroligins have been shown to be abundantly expressed in blood vessels and also play a role implicated in the growth of glioma cells...
2017: PloS One
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