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https://www.readbyqxmd.com/read/27911749/casting-a-wide-net-role-of-perineuronal-nets-in-neural-plasticity
#1
Barbara A Sorg, Sabina Berretta, Jordan M Blacktop, James W Fawcett, Hiroshi Kitagawa, Jessica C F Kwok, Marta Miquel
Perineuronal nets (PNNs) are unique extracellular matrix structures that wrap around certain neurons in the CNS during development and control plasticity in the adult CNS. They appear to contribute to a wide range of diseases/disorders of the brain, are involved in recovery from spinal cord injury, and are altered during aging, learning and memory, and after exposure to drugs of abuse. Here the focus is on how a major component of PNNs, chondroitin sulfate proteoglycans, control plasticity, and on the role of PNNs in memory in normal aging, in a tauopathy model of Alzheimer's disease, and in drug addiction...
November 9, 2016: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/27911742/current-perspectives-in-autism-spectrum-disorder-from-genes-to-therapy
#2
Maria Chahrour, Brian J O'Roak, Emanuela Santini, Rodney C Samaco, Robin J Kleiman, M Chiara Manzini
Autism spectrum disorder (ASD) is a constellation of neurodevelopmental presentations with high heritability and both phenotypic and genetic heterogeneity. To date, mutations in hundreds of genes have been associated to varying degrees with increased ASD risk. A better understanding of the functions of these genes and whether they fit together in functional groups or impact similar neuronal circuits is needed to develop rational treatment strategies. We will review current areas of emphasis in ASD research, starting from human genetics and exploring how mouse models of human mutations have helped identify specific molecular pathways (protein synthesis and degradation, chromatin remodeling, intracellular signaling), which are linked to alterations in circuit function and cognitive/social behavior...
November 9, 2016: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/27911014/the-effectiveness-of-an-outdoor-adventure-programme-for-young-children-with-autism-spectrum-disorder-a-controlled-study
#3
Ditza A Zachor, Shira Vardi, Shani Baron-Eitan, Inbal Brodai-Meir, Noa Ginossar, Esther Ben-Itzchak
AIM: Outdoor adventure programmes aim to improve interpersonal relationships using adventurous activities. The current study examined the effectiveness of an outdoor adventure programme in children with autism spectrum disorders (ASD). METHOD: The study included 51 participants (40 males, 11 females; age 3y 4mo-7y 4mo) enrolled in ASD special education kindergartens. Only the intervention group (n=30) participated in the outdoor adventure programme for 13 weeks, completing challenging physical activities that required cooperation and communication with peers and instructors...
December 2, 2016: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/27910235/the-impact-of-caregiver-mediated-jasper-on-child-restricted-and-repetitive-behaviors-and-caregiver-responses
#4
Clare Harrop, Amanda Gulsrud, Wendy Shih, Lilit Hovsepyan, Connie Kasari
Restricted and repetitive behaviors (RRBs) are a core feature of autism spectrum disorder (ASD). Compared to the social-communication impairments children show, we know less about why children engage in these repetitive actions and behaviors and how to help children (and their caregivers) with these behaviors. As a result, early intervention has typically focused on social-communication. In this study, we were interested in understanding how child RRBs changed following an intervention that targeted social-communication behaviors and if the training caregivers received changed how they responded to their child's RRBs...
December 2, 2016: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/27909851/brief-report-knowledge-and-confidence-of-emergency-medical-service-personnel-involving-treatment-of-an-individual-with-autism-spectrum-disorder
#5
David Wachob, Louis J Pesci
In order to best respond to an emergency situation, professionals need to have an understanding about Autism Spectrum Disorder (ASD) and techniques that will ensure proper care. The purpose of this study was to determine the knowledge and confidence of EMS personnel on interacting and treating an individual with ASD. Emergency Medical Technicians (EMT), and Paramedics were surveyed on their knowledge of ASD; familiarity or experience with ASD, and level of comfort responding to emergencies involving an individual with ASD...
December 1, 2016: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/27905541/serbian-language-version-of-the-modified-checklist-for-autism-in-toddlers-revised-with-follow-up-cross-cultural-adaptation-and-assessment-of-reliability
#6
Mia Carakovac, Jelena Jovanovic, Marko Kalanj, Nenad Rudic, Olivera Aleksic-Hil, Branko Aleksic, Itzel Bustos Villalobos, Hideki Kasuya, Norio Ozaki, Dusica Lecic-Tosevski, Milica Pejovic-Milovancevic
Early detection of Autism Spectrum Disorder (ASD) has proven to be of high significance, however there is a limited availability of ASD screening tools in Serbian language. In this study we aim to translate, assess reliability and, in part, test the applicability of Modified Checklist for Autism in Toddlers, Revised, with Follow-Up (M-CHAT R/F) in Serbian Healthcare environment. We screened 128 children in three primary healthcare centres and 20 children in a tertiary psychiatric center, using M-CHAT R/F translated into Serbian language, between December 2014 and October 2015...
December 1, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27904820/the-neurobiology-of-the-prader-willi-phenotype-of-fragile-x-syndrome
#7
REVIEW
Zukhrofi Muzar, Reymundo Lozano, Alexander Kolevzon, Randi J Hagerman
Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability and autism, caused by a CGG expansion to greater than 200 repeats in the promoter region of FMR1 on the bottom of the X chromosome. A subgroup of individuals with FXS experience hyperphagia, lack of satiation after meals and severe obesity, this subgroup is referred to have the Prader-Willi phenotype of FXS. Prader-Willi syndrome is one of the most common genetic severe obesity disorders known and it is caused by the lack of the paternal 15q11-13 region...
November 2016: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/27900342/cacna1c-protecting-young-hippocampal-neurons-in-the-adult-brain
#8
Héctor De Jesús-Cortés, Anjali M Rajadhyaksha, Andrew A Pieper
Neuropsychiatric disease is the leading cause of disability in the United States, and fourth worldwide.(1,2) Not surprisingly, human genetic studies have revealed a common genetic predisposition for many forms of neuropsychiatric disease, potentially explaining why overlapping symptoms are commonly observed across multiple diagnostic categories. For example, the CACNA1C gene was recently identified in the largest human genome-wide association study to date as a risk loci held in common across 5 major forms of neuropsychiatric disease: bipolar disorder, schizophrenia, major depressive disorder (MDD), autism spectrum disorder and attention deficit-hyperactivity disorder...
2016: Neurogenesis (Austin, Tex.)
https://www.readbyqxmd.com/read/27898583/genetic-control-of-postnatal-human-brain-growth
#9
Laura I van Dyck, Eric M Morrow
PURPOSE OF REVIEW: Studies investigating postnatal brain growth disorders inform the biology underlying the development of human brain circuitry. This research is becoming increasingly important for the diagnosis and treatment of childhood neurodevelopmental disorders, including autism and related disorders. Here, we review recent research on typical and abnormal postnatal brain growth and examine potential biological mechanisms. RECENT FINDINGS: Clinically, brain growth disorders are heralded by diverging head size for a given age and sex, but are more precisely characterized by brain imaging, post-mortem analysis, and animal model studies...
November 24, 2016: Current Opinion in Neurology
https://www.readbyqxmd.com/read/27897003/de-novo-mutations-in-autism-implicate-the-synaptic-elimination-network
#10
Guhan Ram Venkataraman, Chloe O'Connell, Fumiko Egawa, Dorna Kashef-Haghighi, Dennis P Wall
Autism has been shown to have a major genetic risk component; the architecture of documented autism in families has been over and again shown to be passed down for generations. While inherited risk plays an important role in the autistic nature of children, de novo (germline) mutations have also been implicated in autism risk. Here we find that autism de novo variants verified and published in the literature are Bonferroni-significantly enriched in a gene set implicated in synaptic elimination. Additionally, several of the genes in this synaptic elimination set that were enriched in protein-protein interactions (CACNA1C, SHANK2, SYNGAP1, NLGN3, NRXN1, and PTEN) have been previously confirmed as genes that confer risk for the disorder...
2016: Pacific Symposium on Biocomputing
https://www.readbyqxmd.com/read/27893955/using-a-patient-centered-outcome-measure-to-test-methylphenidate-versus-placebo-in-children-with-autism-spectrum-disorder
#11
Lawrence Scahill, Karen Bearss, Rena Sarhangian, Christopher J McDougle, L Eugene Arnold, Michael G Aman, James T McCracken, Elaine Tierney, Scott Gillespie, Valentina Postorino, Benedetto Vitiello
OBJECTIVES: Parent rating scales are commonly used to evaluate change in clinical trials. Despite advantages, these measures may not capture parental impression of the child's most salient problems. We examine the use of parent target problems (PTPs) in a randomized trial of methylphenidate (MPH) in children with autism spectrum disorder and symptoms of attention-deficit/hyperactivity disorder. METHODS: This multisite, 4-week, randomized crossover trial compared three dose levels (low, medium, and high) of MPH with placebo...
November 28, 2016: Journal of Child and Adolescent Psychopharmacology
https://www.readbyqxmd.com/read/27893495/integration-of-eeg-into-psychiatric-practice-a-step-toward-precision-medicine-for-autism-spectrum-disorder
#12
Ronald J Swatzyna, Jay D Tarnow, Robert P Turner, Alexandra J Roark, Erin K MacInerney, Gerald P Kozlowski
INTRODUCTION: Data from an EEG is not commonly used by psychiatrists to plan treatment and medication. However, EEG abnormalities such as isolated epileptiform discharges (IEDs) are found to be more prevalent in psychiatric patients, particularly those diagnosed with Autism Spectrum Disorder (ASD). Most medications prescribed for ASD lower seizure threshold and increase side-effects. Therefore, it may be prudent to order an EEG for ASD cases, especially those categorized as refractory...
November 22, 2016: Journal of Clinical Neurophysiology: Official Publication of the American Electroencephalographic Society
https://www.readbyqxmd.com/read/27891471/comparison-of-gingival-health-and-salivary-parameters-among-autistic-and-non-autistic-school-children-in-riyadh
#13
Hafez M Diab, Suha Saeed Motlaq, Amal Alsharare, Ashwaq Alshammery, Nadia Alshammery, Shabnam Gulzar Khawja, Altaf H Shah
INTRODUCTION: Autism is a neuro-developmental disorder which is manifested as impairment of social interaction, communication and a repetitive behaviour. Autism can obscure dental treatment for the affected patients; furthermore, children with autism commonly have destructive oral habits. AIM: The aims of this study were to evaluate the Modified Gingival Index (MGI), Plaque Index (PI), salivary pH and buffering capacity of the saliva among autistic children compared to normal children in Riyadh City that may provide baseline data to enable comparison and future planning of dental services for autistic children...
October 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/27891365/visual-function-and-ocular-status-in-children-with-disabilities-in-special-schools-of-northern-india
#14
Gurvinder Kaur, Satish Thomas, Mahesh Jindal, S M Bhatti
INTRODUCTION: Children with disabilities (other than visual impairment) are at a higher risk of visual impairment as compared to normal population. Majority of the ocular disorders, like refractive errors and strabismus, are easily treatable. As these children depend on their visual inputs for social and academic activities, an early detection and prompt treatment of even a minor visual problem is of utmost importance for them. AIM: To assess the visual function and ocular status of children with disabilities other than visual impairment and to identify the preventable and treatable causes of visual impairment...
October 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/27891212/the-role-of-sex-differential-biology-in-risk-for-autism-spectrum-disorder
#15
REVIEW
Donna M Werling
Autism spectrum disorder (ASD) is a developmental condition that affects approximately four times as many males as females, a strong sex bias that has not yet been fully explained. Understanding the causes of this biased prevalence may highlight novel avenues for treatment development that could benefit patients with diverse genetic backgrounds, and the expertise of sex differences researchers will be invaluable in this endeavor. In this review, I aim to assess current evidence pertaining to the sex difference in ASD prevalence and to identify outstanding questions and remaining gaps in our understanding of how males come to be more frequently affected and/or diagnosed with ASD...
2016: Biology of Sex Differences
https://www.readbyqxmd.com/read/27889489/the-drug-candidate-adx71441-is-a-novel-potent-and-selective-positive-allosteric-modulator-of-the-gabab-receptor-with-a-potential-for-treatment-of-anxiety-pain-and-spasticity
#16
Mikhail Kalinichev, Françoise Girard, Hasnaà Haddouk, Mélanie Rouillier, Eric Riguet, Isabelle Royer-Urios, Vincent Mutel, Robert Lütjens, Sonia Poli
Positive allosteric modulation of the GABAB receptor is a promising alternative to direct activation of the receptor as a therapeutic approach for treatment of addiction, chronic pain, anxiety, epilepsy, autism, Fragile X syndrome, and psychosis. Here we describe in vitro and in vivo characterization of a novel, potent and selective GABAB positive allosteric modulator (PAM) N-(5-(4-(4-chloro-3-fluorobenzyl)-6-methoxy-3,5-dioxo-4,5-dihydro-1,2,4-triazin-2(3H)-yl)-2-fluorophenyl)acetamide (ADX71441). In vitro, Schild plot and reversibility tests at the target confirmed PAM properties of the compound...
November 23, 2016: Neuropharmacology
https://www.readbyqxmd.com/read/27889487/adhd-severity-as-it-relates-to-comorbid-psychiatric-symptomatology-in-children-with-autism-spectrum-disorders-asd
#17
Rosleen Mansour, Allison T Dovi, David M Lane, Katherine A Loveland, Deborah A Pearson
Comorbid diagnoses identified in pediatric samples have been correlated with a range of outcomes, including greater levels of emotional, behavioral, and educational impairment and the need for more intensive treatment. Given that previous research has documented high levels of comorbid Attention-Deficit/Hyperactivity Disorder (ADHD) in children with Autism Spectrum Disorders (ASD), this study closely examines the relationship between parent-reported ADHD symptoms (i.e., Conners' Parent Rating Scale, Revised [CPRS-R]) and the prevalence of additional comorbid psychiatric diagnoses in a pediatric ASD sample (n=99)...
November 24, 2016: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/27888367/increasing-opportunities-for-question-asking-in-school-aged-children-with-autism-spectrum-disorder-effectiveness-of-staff-training-in-pivotal-response-treatment
#18
Rianne Verschuur, Bibi Huskens, Ludo Verhoeven, Robert Didden
Deficits in question-asking are common in children with autism spectrum disorder (ASD). Furthermore, their opportunities to self-initiate questions are often hindered by directive behavior of their conversation partners. This study assessed the effectiveness of staff training in pivotal response treatment (PRT) on staff member-created opportunities and self-initiated questions of school-aged children with ASD. Generalization and maintenance were also assessed. Participants were 14 staff members and children with ASD attending an inpatient treatment facility...
November 25, 2016: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/27885946/epilepsy-surgery-in-patients-with-autism
#19
Malgosia A Kokoszka, Patricia E McGoldrick, Maite La Vega-Talbott, Hillary Raynes, Christina A Palmese, Steven M Wolf, Cynthia L Harden, Saadi Ghatan
OBJECTIVE The purpose of this study was to report outcomes of epilepsy surgery in 56 consecutive patients with autism spectrum disorder. METHODS Medical records of 56 consecutive patients with autism who underwent epilepsy surgery were reviewed with regard to clinical characteristics, surgical management, postoperative seizure control, and behavioral changes. RESULTS Of the 56 patients with autism, 39 were male, 45 were severely autistic, 27 had a history of clinically significant levels of aggression and other disruptive behaviors, and 30 were considered nonverbal at baseline...
November 25, 2016: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/27881780/negative-allosteric-modulation-of-mglur5-partially-corrects-pathophysiology-in-a-mouse-model-of-rett-syndrome
#20
Jifang Tao, Hao Wu, Amanda A Coronado, Elizabeth de Laittre, Emily K Osterweil, Yi Zhang, Mark F Bear
: Rett syndrome (RTT) is caused by mutations in the gene encoding methyl-CpG binding protein 2 (MECP2), an epigenetic regulator of mRNA transcription. Here, we report a test of the hypothesis of shared pathophysiology of RTT and fragile X, another monogenic cause of autism and intellectual disability. In fragile X, the loss of the mRNA translational repressor FMRP leads to exaggerated protein synthesis downstream of metabotropic glutamate receptor 5 (mGluR5). We found that mGluR5- and protein-synthesis-dependent synaptic plasticity were similarly altered in area CA1 of Mecp2 KO mice...
November 23, 2016: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
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