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Autism, developmental disorders

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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/28538046/general-pediatrician-staffed-behavioral-developmental-access-clinic-decreases-time-to-evaluation-of-early-childhood-developmental-disorders
#2
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/28534656/early-development-in-rett-syndrome-the-benefits-and-difficulties-of-a-birth-cohort-approach
#3
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/28534217/autism-spectrum-disorder-associated-genes-and-the-development-of-dentate-granule-cells
#4
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/28531286/is-foetal-hyperexposure-to-androgens-a-cause-of-pcos
#5
Panagiota Filippou, Roy Homburg
BACKGROUND: Polycystic ovary syndrome (PCOS) is the most common endocrinopathy affecting reproductive-aged women. The pathophysiology of this syndrome is still not completely understood but recent evidence suggests that the intra-uterine environment may be a key factor in the pathogenesis of PCOS, in particular, hyperexposure of the foetus to androgens. High concentrations of maternal serum testosterone during pregnancy have been shown to influence behaviour during childhood, the prevalence of autism disorders and anti-Mullerian hormone (AMH) concentrations in adolescence...
May 20, 2017: Human Reproduction Update
https://www.readbyqxmd.com/read/28529667/motor-problems-in-children-with-neurofibromatosis-type-1
#6
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/28527575/coup-tf-genes-human-diseases-and-the-development-of-the-central-nervous-system-in-murine-models
#7
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/28526761/a-retrospective-chart-review-of-the-features-of-pten-hamartoma-tumour-syndrome-in-children
#8
Emily Hansen-Kiss, Sarah Beinkampen, Brent Adler, Thomas Frazier, Thomas Prior, Steven Erdman, Charis Eng, Gail Herman
OBJECTIVE: It is recognised that 5% - 10 % of children with macrocephaly and autism spectrum disorder (ASD) and/or intellectual disability (ID) have a heterozygous pathogenic mutation in the PTEN tumour suppressor gene that is associated with PTEN hamartoma tumour syndrome. However, the clinical features and course in children with a pathogenic PTEN mutation are unclear and have not been well documented. STUDY OBJECTIVES: We undertook a retrospective chart review of children (< 18  years) with pathogenic PTEN mutations to ascertain clinical findings, clinical course and possible outcomes...
May 19, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28524230/the-etiology-of-autistic-traits-in-preschoolers-a-population-based-twin-study
#9
Eveline L de Zeeuw, Catharina E M van Beijsterveldt, Rosa A Hoekstra, Meike Bartels, Dorret I Boomsma
BACKGROUND: Autism Spectrum Disorders (ASD) are highly heritable, but the exact etiological mechanisms underlying the condition are still unclear. METHODS: Using a multiple rater twin design in a large sample of general population preschool twins, this study aimed to (a) estimate the contribution of genetic and environmental factors to autistic traits, controlling for the possible effects of rater bias, (b) to explore possible sex differences in etiology and (c) to investigate the discordance in autistic traits in monozygotic and same-sex dizygotic twin pairs...
May 19, 2017: Journal of Child Psychology and Psychiatry, and Allied Disciplines
https://www.readbyqxmd.com/read/28524075/examining-the-overlap-between-autism-spectrum-disorder-and-22q11-2-deletion-syndrome
#10
Opal Ousley, A Nichole Evans, Samuel Fernandez-Carriba, Erica L Smearman, Kimberly Rockers, Michael J Morrier, David W Evans, Karlene Coleman, Joseph Cubells
22q11.2 deletion syndrome (22q11.2DS) is a genomic disorder reported to associate with autism spectrum disorders (ASDs) in 15-50% of cases; however, others suggest that individuals with 22q11.2DS present psychiatric or behavioral features associated with ASDs, but do not meet full criteria for ASD diagnoses. Such wide variability in findings may arise in part due to methodological differences across studies. Our study sought to determine whether individuals with 22q11.2DS meet strict ASD diagnostic criteria using research-based guidelines from the Collaborative Programs of Excellence in Autism (CPEA), which required a gathering of information from three sources: the Autism Diagnostic Interview-Revised (ADI-R), the Autism Diagnostic Observational Schedule (ADOS), and a clinician's best-estimate diagnosis...
May 18, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28521702/role-of-ectonucleotidases-in-the-synapse-formation-during-brain-development-physiological-and-pathological-implications
#11
Ivana Grković, Dunja Drakulić, Jelena Martinović, Nataša Mitrović
Extracellular adenine nucleotides and nucleosides, such as ATP and adenosine, are among the most recently identified and least investigated diffusible signaling factors that contribute to the structural and functional remodeling of the brain, both during embryonic and postnatal development. Their levels in the extracellular milieu are tightly controlled by various ectonucleotidases: ectonucleotide pyrophosphatase/phosphodiesterases (E-NPP), alkaline phosphatases (AP), ectonucleoside triphosphate diphosphohydrolases (E-NTPDases) and ecto-5'-nucleotidase (eN)...
May 18, 2017: Current Neuropharmacology
https://www.readbyqxmd.com/read/28516426/characterization-of-medication-use-in-a-multicenter-sample-of-pediatric-inpatients-with-autism-spectrum-disorder
#12
Logan K Wink, Ernest V Pedapati, Ryan Adams, Craig A Erickson, Kahsi A Pedersen, Eric M Morrow, Desmond Kaplan, Matthew Siegel
Nearly 11% of youth with Autism Spectrum Disorder (ASD) undergo psychiatric hospitalization, and 65% are treated with psychotropic medication. Here we characterize psychotropic medication usage in subjects enrolled in the Autism Inpatient Collection. Participant psychotropic medication usage rates topped 90% at admission and discharge, though there was a decline at 2-month follow-up. Antipsychotics, ADHD medications, and sleep aids were the most commonly reported classes of medications. The impact of age, gender, and non-verbal IQ on medication usage rates was minimal, though age and IQ may play a role in prescribing practices...
May 17, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28516424/differing-developmental-trajectories-in-heart-rate-responses-to-speech-stimuli-in-infants-at-high-and-low-risk-for-autism-spectrum-disorder
#13
Katherine L Perdue, Laura A Edwards, Helen Tager-Flusberg, Charles A Nelson
We investigated heart rate (HR) in infants at 3, 6, 9, and 12 months of age, at high (HRA) and low (LRC) familial risk for ASD, to identify potential endophenotypes of ASD risk related to attentional responses. HR was extracted from functional near-infrared spectroscopy recordings while infants listened to speech stimuli. Longitudinal analysis revealed that HRA infants and males generally had lower baseline HR than LRC infants and females. HRA infants showed decreased HR responses to early trials over development, while LRC infants showed increased responses...
May 17, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28511484/efficacy-of-structured-yoga-intervention-for-sleep-gastrointestinal-and-behaviour-problems-of-asd-children-an-exploratory-study
#14
Kumar Narasingharao, Balaram Pradhan, Janardhana Navaneetham
INTRODUCTION: Autism Spectrum Disorder (ASD) is a neuro developmental disorder which appears at early childhood age between 18 and 36 months. Apart from behaviour problems ASD children also suffer from sleep and Gastrointestinal (GI) problems. Major behaviour problems of ASD children are lack of social communication and interaction, less attention span, repetitive and restrictive behaviour, lack of eye to eye contact, aggressive and self-injurious behaviours, sensory integration problems, motor problems, deficiency in academic activities, anxiety and depression etc...
March 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28509905/crowdsourced-validation-of-a-machine-learning-classification-system-for-autism-and-adhd
#15
M Duda, N Haber, J Daniels, D P Wall
Autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) together affect >10% of the children in the United States, but considerable behavioral overlaps between the two disorders can often complicate differential diagnosis. Currently, there is no screening test designed to differentiate between the two disorders, and with waiting times from initial suspicion to diagnosis upwards of a year, methods to quickly and accurately assess risk for these and other developmental disorders are desperately needed...
May 16, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28507523/autism-spectrum-disorders-and-schizophrenia-spectrum-disorders-excitation-inhibition-imbalance-and-developmental-trajectories
#16
Roberto Canitano, Mauro Pallagrosi
Autism spectrum disorders (ASD) and schizophrenia spectrum disorders (SSD) share clinical and genetic components that have long been recognized. The two disorders co-occur more frequently than would be predicted by their respective prevalence, suggesting that a complex, multifactor association is involved. However, DSM-5 maintains the distinction between ASD, with core social and communication impairments, and SSD, including schizophrenia (SCZ), with hallucinations, delusions, and thought disorder as essential features...
2017: Frontiers in Psychiatry
https://www.readbyqxmd.com/read/28506122/examining-transitions-from-youth-to-adult-services-for-young-persons-with-autism
#17
Mathew T Milen, David B Nicholas
Autism Spectrum Disorder (ASD) presents pervasive challenges for individuals throughout their lifetime. Although some financial, community, and individual supports are available for children, there are fewer resources available for adults with ASD, their families, and/or caregivers. It is important to understand the multidimensional shifts associated with the transition from adolescence to adulthood for individuals with ASD. METHODS: To better understand the transitional process, a qualitative study comprised 11 semi-structured interviews with individuals with ASD and their families...
May 16, 2017: Social Work in Health Care
https://www.readbyqxmd.com/read/28504353/cmip-haploinsufficiency-in-two-patients-with-autism-spectrum-disorder-and-co-occurring-gastrointestinal-issues
#18
Minjie Luo, Jinbo Fan, Tara L Wenger, Margaret H Harr, Melissa Racobaldo, Surabhi Mulchandani, Holly Dubbs, Elaine H Zackai, Nancy B Spinner, Laura K Conlin
Autism spectrum disorder (ASD) is a genetically heterogeneous group of disorders characterized by impairments in social communication and restricted interests. Though some patients with ASD have an identifiable genetic cause, the cause of most ASD remains elusive. Many ASD susceptibility loci have been identified through clinical studies. We report two patients with syndromic ASD and persistent gastrointestinal issues who carry de novo deletions involving the CMIP gene detected by genome-wide SNP microarray and fluorescence in situ hybridization (FISH) analysis...
May 15, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28503663/the-communication-play-protocol-capturing-variations-in-language-development
#19
Lauren B Adamson, Roger Bakeman
The Communication Play Protocol (CPP) is a semi-naturalistic, lab-based observational procedure that showcases parent-child interactions. This article reflects on how the CPP has matured since we described it over 25 years ago in the May 1999 issue of Perspectives. We emphasize how the CPP has provided us with a stable frame to observe both typically developing children and children with developmental challenges including autism spectrum disorder as they communicate with caregivers in a range of contexts. We also describe three versions of the CPP that have been designed to address different research questions and several methods including engagement state coding and rating items that have been used to extract data from video records of the CPP...
December 2016: Perspect ASHA Spec Interest Groups
https://www.readbyqxmd.com/read/28498949/proteolytic-cleavage-is-required-for-functional-neuroligin-2-maturation-and-trafficking-in-drosophila
#20
Renjun Tu, Jinjun Qian, Menglong Rui, Nana Tao, Mingkuan Sun, Yan Zhuang, Huihui Lv, Junhai Han, Moyi Li, Wei Xie
Neuroligins are transmembrane cell adhesion molecules playing essential roles in synapse development and function. Genetic mutations in neuroligin genes have been linked with some neurodevelopmental disorders such as autism. These mutated Neuroligins are mostly retained in the endoplasmic reticulum (ER). However, the mechanisms underlying normal Neuroligin maturation and trafficking have remained largely unknown. Here, we found that Drosophila Neuroligin 2 (DNlg2) undergoes proteolytic cleavage in the ER in a variety of Drosophila tissues throughout developmental stages...
May 11, 2017: Journal of Molecular Cell Biology
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