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https://www.readbyqxmd.com/read/28538871/what-do-cochrane-systematic-reviews-say-about-interventions-for-autism-spectrum-disorders
#1
Larissa Lyra, Luiz Eduardo Rizzo, Camila Sá Sunahara, Daniela Vianna Pachito, Carolina de Oliveira Cruz Latorraca, Ana Luiza Cabrera Martimbianco, Rachel Riera
CONTEXT AND OBJECTIVE: Autism spectrum disorders (ASDs) include autistic disorder, Asperger's disorder and pervasive developmental disorder. The manifestations of ASDs can have an important impact on learning and social functioning that may persist during adulthood. The aim here was to summarize the evidence from Cochrane systematic reviews on interventions for ASDs. DESIGN AND SETTING: Review of systematic reviews, conducted within the Discipline of Evidence-Based Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo...
March 2017: São Paulo Medical Journal, Revista Paulista de Medicina
https://www.readbyqxmd.com/read/28538514/long-term-outcome-of-4-patients-with-transcobalamin-deficiency-caused-by-2-novel-tcn2-mutations
#2
Marwan Nashabat, Gustavo Maegawa, Peter H Nissen, Ebba Nexo, Hussain Al-Shamrani, Mohammed Al-Owain, Majid Alfadhel
Cobalamin (vitamin B12 [Cbl]) is an essential cofactor for many biochemical pathways. Transcobalamin (TC) is required to internalize Cbl into the cells through membrane receptor-mediated endocytosis. Cbl is then processed in the cytoplasm and mitochondria by complementation factors leading to its active metabolites; methylcobalamin and 5-deoxyadenosyl-cobalamin. Deficiency of TC results in an elevation in methylmalonic acid and homocysteine. Patients usually present with macrocytic anemia, pancytopenia, failure to thrive, gastrointestinal symptoms, and neurological dysfunction...
May 22, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28538046/general-pediatrician-staffed-behavioral-developmental-access-clinic-decreases-time-to-evaluation-of-early-childhood-developmental-disorders
#3
Meghan Harrison, Persephone Jones, Iman Sharif, Matthew D Di Guglielmo
OBJECTIVE: To describe and evaluate the effectiveness of a quality improvement project to decrease wait time to evaluation for children referred to Developmental Behavioral Pediatricians (DBPs). METHODS: The authors created a Behavioral/Developmental Access Clinic (BDAC) staffed by a general pediatrician (GP) and pediatric psychologist. Clinicians in the BDAC provided comprehensive developmental evaluations for children in a discrete age range (<5 yr old). We describe the establishment of the BDAC along with referrals, diagnoses, and recommended follow-up for patients seen by the GP...
May 22, 2017: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/28537758/validation-of-the-empathy-quotient-in-mainland-china
#4
Qing Zhao, David L Neumann, Xiaoyan Cao, Simon Baron-Cohen, Xiang Sun, Yuan Cao, Chao Yan, Yuna Wang, Lin Shao, David H K Shum
This research aimed to validate a simplified Chinese version of the Empathy Quotient (EQ; 60 items) for use with Mainland Chinese people. The original English version of the EQ was translated into simplified Chinese. Through an online survey, 588 Mainland Chinese participants completed the EQ and 3 other questionnaires: the Interpersonal Reactivity Index (IRI), the Autism-Spectrum Quotient (AQ), and the 20-item Toronto Alexithymia Scale (TAS-20). Thirty-five participants completed retesting of the EQ 3 to 4 weeks later...
May 24, 2017: Journal of Personality Assessment
https://www.readbyqxmd.com/read/28534875/dose-dependent-social-cognitive-effects-of-intranasal-oxytocin-delivered-with-novel-breath-powered-device-in-adults-with-autism-spectrum-disorder-a-randomized-placebo-controlled-double-blind-crossover-trial
#5
D S Quintana, L T Westlye, S Hope, T Nærland, T Elvsåshagen, E Dørum, Ø Rustan, M Valstad, L Rezvaya, H Lishaugen, E Stensønes, S Yaqub, K T Smerud, R A Mahmoud, P G Djupesland, O A Andreassen
The neuropeptide oxytocin has shown promise as a treatment for symptoms of autism spectrum disorders (ASD). However, clinical research progress has been hampered by a poor understanding of oxytocin's dose-response and sub-optimal intranasal delivery methods. We examined two doses of oxytocin delivered using a novel Breath Powered intranasal delivery device designed to improve direct nose-to-brain activity in a double-blind, crossover, randomized, placebo-controlled trial. In a randomized sequence of single-dose sessions, 17 male adults with ASD received 8 international units (IU) oxytocin, 24IU oxytocin or placebo followed by four social-cognitive tasks...
May 23, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28534874/shifting-brain-inhibitory-balance-and-connectivity-of-the-prefrontal-cortex-of-adults-with-autism-spectrum-disorder
#6
L A Ajram, J Horder, M A Mendez, A Galanopoulos, L P Brennan, R H Wichers, D M Robertson, C M Murphy, J Zinkstok, G Ivin, M Heasman, D Meek, M D Tricklebank, G J Barker, D J Lythgoe, R A E Edden, S C Williams, D G M Murphy, G M McAlonan
Currently, there are no effective pharmacologic treatments for the core symptoms of autism spectrum disorder (ASD). There is, nevertheless, potential for progress. For example, recent evidence suggests that the excitatory (E) glutamate and inhibitory (I) GABA systems may be altered in ASD. However, no prior studies of ASD have examined the 'responsivity' of the E-I system to pharmacologic challenge; or whether E-I modulation alters abnormalities in functional connectivity of brain regions implicated in the disorder...
May 23, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28534818/a-review-of-the-impact-of-maternal-obesity-on-the-cognitive-function-and-mental-health-of-the-offspring
#7
REVIEW
Laura Contu, Cheryl A Hawkes
Globally, more than 20% of women of reproductive age are currently estimated to be obese. Children born to obese mothers are at higher risk of developing obesity, coronary heart disease, diabetes, stroke, and asthma in adulthood. Increasing clinical and experimental evidence suggests that maternal obesity also affects the health and function of the offspring brain across the lifespan. This review summarizes the current findings from human and animal studies that detail the impact of maternal obesity on aspects of learning, memory, motivation, affective disorders, attention-deficit hyperactivity disorder, autism spectrum disorders, and neurodegeneration in the offspring...
May 19, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28534656/early-development-in-rett-syndrome-the-benefits-and-difficulties-of-a-birth-cohort-approach
#8
Peter B Marschik, Sanne Lemcke, Christa Einspieler, Dajie Zhang, Sven Bölte, Gillian S Townend, Marlene B Lauritsen
PURPOSES: Typically, early (pre-diagnostic) development in individuals later diagnosed with Rett syndrome (RTT) has been investigated retrospectively using parent reports, medical records and analysis of home videos. In recent years, prospective research designs have been increasingly applied to the investigation of early development in individuals with late phenotypical onset disorders, for example, autism spectrum disorder. METHODS: In this study, data collected by the Danish National Birth Cohort lent itself to prospective exploration of the early development of RTT, in particular early motor-, speech-language, and socio-communicative behaviors, mood, and sleep...
May 23, 2017: Developmental Neurorehabilitation
https://www.readbyqxmd.com/read/28534237/the-buffet-program-development-of-a-cognitive-behavioral-treatment-for-selective-eating-in-youth-with-autism-spectrum-disorder
#9
REVIEW
Emily S Kuschner, Hannah E Morton, Brenna B Maddox, Ashley de Marchena, Laura Gutermuth Anthony, Judy Reaven
Selective eating (often referred to as "picky" eating) is common in individuals with autism spectrum disorder (ASD) across the lifespan. Behavioral interventions are widely used to treat selective eating; however, most of these programs are time intensive, have not been evaluated for use in outpatient settings, and do not typically include youth beyond early childhood. Despite the functional impact and risk for negative outcomes associated with selective eating, there are no empirically supported treatments available for older children, adolescents, or adults, either with or without ASD...
May 22, 2017: Clinical Child and Family Psychology Review
https://www.readbyqxmd.com/read/28534217/autism-spectrum-disorder-associated-genes-and-the-development-of-dentate-granule-cells
#10
REVIEW
Hidenori Ito, Rika Morishita, Koh-Ichi Nagata
Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by severe clinical symptoms such as the deficiency of the social communication, repetitive and stereotyped behaviors, and restricted interests. Although complex genetic and environmental factors are thought to contribute to the development of ASD, the precise etiologies are largely unknown. Neuroanatomical observations have been made of developmental abnormalities in different brain regions, including dentate gyrus of hippocampus, which is widely accepted as the center for learning and memory...
May 22, 2017: Medical Molecular Morphology
https://www.readbyqxmd.com/read/28533516/asd-restricted-and-repetitive-behaviors-associated-at-17q21-33-genes-prioritized-by-expression-in-fetal-brains
#11
R M Cantor, L Navarro, H Won, R L Walker, J K Lowe, D H Geschwind
Autism spectrum disorder (ASD) is a behaviorally defined condition that manifests in infancy or early childhood as deficits in communication skills and social interactions. Often, restricted and repetitive behaviors (RRBs) accompany this disorder. ASD is polygenic and genetically complex, so we hypothesized that focusing analyses on intermediate core component phenotypes, such as RRBs, can reduce genetic heterogeneity and improve statistical power. Applying this approach, we mined Caucasian genome-wide association studies (GWAS) data from two of the largest ASD family cohorts, the Autism Genetics Resource Exchange and Autism Genome Project (AGP)...
May 23, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28533432/the-atp-dependent-chromatin-remodeling-enzymes-chd6-chd7-and-chd8-exhibit-distinct-nucleosome-binding-and-remodeling-activities
#12
Benjamin J Manning, Timur Yusufzai
Proper chromatin regulation is central to genome function and maintenance. The group III CHD family of ATP-dependent chromatin remodeling enzymes--comprising CHD6, CHD7, CHD8, and CHD9--has well-documented roles in transcription regulation impacting both organism development and disease etiology. These four enzymes are similar in their constituent domains, yet these enzymes fill surprisingly non-redundant roles in the cell, with deficiencies in individual enzymes leading to dissimilar disease states such as CHARGE syndrome or autism spectrum disorders...
May 21, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28533427/copy-number-variations-independently-induce-autism-spectrum-disorder
#13
Yingjun Xie, Haiming Yuan, Mingbang Wang, Liangying Zhong, Jiaxiu Zhou, Bing Song, Qibin Yin, Xiaofang Sun
The examination of copy number variation (CNV) is critical to understanding the etiology of the CNV-related autism spectrum disorders (ASD). DNA samples were obtained from 64 ASD probands, which were genotyped on an Affymetrix CytoScan HD platform. qPCR or FISH were used as a validation for some novel recurrent CNVs. We further compared the clinical phenotypes of the genes in the DECIPHER database with these overlapping genes.  Using vast, readily available databases with previously reported clinically relevant CNVs from human populations, the genes were evaluated using Enrichment Analysis and GO Slim Classification...
May 22, 2017: Bioscience Reports
https://www.readbyqxmd.com/read/28530441/a-pilot-observational-study-of-an-acupressure-acupuncture-intervention-in-children-with-autism-spectrum-disorder
#14
Lana R Warren, Patricia A Rao, David C Paton
OBJECTIVES: To determine whether children with autism spectrum disorder (ASD) would tolerate an acupressure/acupuncture intervention and whether parents would adhere to a twice-weekly, 8-week intervention protocol. Second, to further understand best measures to use to capture impact of intervention on behavioral and regulatory functions. DESIGN: This is an observational pilot study with pre-, mid-, and postintervention measures. SETTINGS/LOCATION: The intervention was carried out in a private practice office in a large metropolitan area...
May 22, 2017: Journal of Alternative and Complementary Medicine: Research on Paradigm, Practice, and Policy
https://www.readbyqxmd.com/read/28529667/motor-problems-in-children-with-neurofibromatosis-type-1
#15
André B Rietman, Rianne Oostenbrink, Sanne Bongers, Eddy Gaukema, Sandra van Abeelen, Jos G Hendriksen, Caspar W N Looman, Pieter F A de Nijs, Marie-Claire de Wit
BACKGROUND: Children with the neurogenetic disorder neurofibromatosis type 1 (NF1) often have problems with learning and behaviour. In both parent reports and neuropsychological assessment, motor problems are reported in approximately one third to one half of the children with NF1. Studies using broad motor performance test batteries with relatively large groups of children with NF1 are limited. The aim of this cross-sectional observational study was to describe the severity of motor problems in children with NF1 and to explore the predictive value of demographics, intelligence, and behavioural problems...
2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/28528584/autism-risk-following-antidepressant-medication-during-pregnancy
#16
A Viktorin, R Uher, A Reichenberg, S Z Levine, S Sandin
BACKGROUND: Previous studies have examined if maternal antidepressant medication during pregnancy increase the risk of autism spectrum disorder (ASD) in the offspring, but the results have been conflicting. METHODS: In a population-based cohort of 179 007 children born in 2006 and 2007 and followed through 2014 when aged 7 and 8, we estimated relative risks (RRs) of ASD and 95% confidence intervals (CIs) from Cox regression in children exposed to any antidepressant medication during pregnancy, and nine specific antidepressant drugs...
May 22, 2017: Psychological Medicine
https://www.readbyqxmd.com/read/28528329/the-interrater-reliability-of-the-autism-diagnostic-interview-revised-adi-r-in-clinical-settings
#17
Eric Zander, Charlotte Willfors, Steve Berggren, Christina Coco, Anette Holm, Ida Jifält, Renata Kosieradzki, Jenny Linder, Viviann Nordin, Karin Olafsdottir, Sven Bölte
BACKGROUND: The Autism Diagnostic Interview-Revised (ADI-R) is considered a first choice assessment tool in autism spectrum disorder. Nevertheless, despite its wide use in psychiatric practice and recommendations by various clinical guidelines, its interrater reliability has predominantly been confirmed in research settings by specially trained, research reliability interviewers. The reliability of ADI-R assessments among clinicians has not yet been established. Therefore, this study examined the spontaneous interrater reliability of the ADI-R in a naturalistic clinical multicenter setting...
May 20, 2017: Psychopathology
https://www.readbyqxmd.com/read/28527716/discovery-of-recurring-behavioural-sequences-in-wistar-rat-social-activity-possible-support-to-studies-on-autism-spectrum-disorders
#18
M Casarrubea, F Faulisi, A Cudia, D Cancemi, M Cardaci, M S Magnusson, G Crescimanno
This study was undertaken to investigate whether, in rat interactive activities, recurring sequences of behavioural events might be identified and how and to what extent each component of the pair is involved. To this aim, the multivariate temporal-pattern (t-pattern) analysis was applied to the social interactions of 9 pairs of male Wistar rats tested in open field. Interactive activities were classified into intra- and inter-subjects. Quantitative evaluations showed that intra-subject behavioural elements represented 62...
May 17, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/28527575/coup-tf-genes-human-diseases-and-the-development-of-the-central-nervous-system-in-murine-models
#19
Xiong Yang, Su Feng, Ke Tang
COUP-TFI and -TFII are members of the steroid/thyroid nuclear receptor superfamily. Recent clinical studies reveal that COUP-TFI gene mutations are associated with Bosch-Boonstra-Schaaf optic atrophy syndrome displaying symptoms of optic atrophy, intellectual disability, hypotonia, seizure, autism spectrum disorders, oromotor dysfunction, thin corpus callosum, or hearing defects, and COUP-TFII gene mutations lead to congenital heart defects and/or congenital diaphragmatic hernia with developmental delay and mental defects...
2017: Current Topics in Developmental Biology
https://www.readbyqxmd.com/read/28527098/mediating-effects-of-social-support-on-quality-of-life-for-parents-of-adults-with-autism
#20
Christina N Marsack, Preethy S Samuel
The aim of this study was to examine the mediating effect of formal and informal social support on the relationship of caregiver burden and quality of life (QOL), using a sample of 320 parents (aged 50 or older) of adult children with autism spectrum disorder (ASD). Multiple linear regression and mediation analyses indicated that caregiver burden had a negative impact on QOL and that informal social support partially mediated the relationship between caregiver burden and parents' QOL. Formal social support did not mediate the relationship between caregiver burden and QOL...
May 19, 2017: Journal of Autism and Developmental Disorders
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