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Autism, developmental disorders

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https://www.readbyqxmd.com/read/29331075/an-examination-of-the-clinical-outcomes-of-adolescents-and-young-adults-with-broad-autism-spectrum-traits-and-autism-spectrum-disorder-and-anorexia-nervosa-a-multi-centre-study
#1
Bruno Palazzo Nazar, Vanessa Peynenburg, Charlotte Rhind, Rebecca Hibbs, Ulrike Schmidt, Simon Gowers, Pamela Macdonald, Elizabeth Goddard, Gillian Todd, Nadia Micali, Janet Treasure
OBJECTIVES: To compare the clinical outcomes of adolescents and young adults with anorexia nervosa (AN) comorbid with broad autism spectrum disorder (ASD) or ASD traits. METHOD: The developmental and well-being assessment and social aptitude scale were used to categorize adolescents and young adults with AN (N = 149) into those with ASD traits (N = 23), and those who also fulfilled diagnostic criteria for a possible/probable ASD (N = 6). We compared both eating disorders specific measures and broader outcome measures at intake and 12 months follow-up...
January 13, 2018: International Journal of Eating Disorders
https://www.readbyqxmd.com/read/29329511/classifying-and-characterizing-the-development-of-adaptive-behavior-in-a-naturalistic-longitudinal-study-of-young-children-with-autism
#2
Cristan Farmer, Lauren Swineford, Susan E Swedo, Audrey Thurm
BACKGROUND: Adaptive behavior, or the ability to function independently in ones' environment, is a key phenotypic construct in autism spectrum disorder (ASD). Few studies of the development of adaptive behavior during preschool to school-age are available, though existing data demonstrate that the degree of ability and impairment associated with ASD, and how it manifests over time, is heterogeneous. Growth mixture models are a statistical technique that can help parse this heterogeneity in trajectories...
January 5, 2018: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/29329089/neural-circuit-dysfunction-in-mouse-models-of-neurodevelopmental-disorders
#3
REVIEW
Isabel Del Pino, Beatriz Rico, Oscar Marín
Neuropsychiatric disorders arise from the alteration of normal brain developmental trajectories disrupting the function of specific neuronal circuits. Recent advances in human genetics have greatly accelerated the identification of genes whose variation increases the susceptibility for neurodevelopmental disorders, most notably for autism spectrum disorder (ASD) and schizophrenia. In parallel, experimental studies in animal models-most typically in mice-are beginning to shed light on the role of these genes in the development and function of specific brain circuits...
January 9, 2018: Current Opinion in Neurobiology
https://www.readbyqxmd.com/read/29329050/factors-influencing-the-severity-of-behavioral-phenotype-in-autism-spectrum-disorders-implications-for-research
#4
Mingyang Zou, Caihong Sun, Jia Wang, Jing Kang, Zhanbin Xu, Yongjuan Ma, Lei Chen, Xinxi Zhang, Wei Xia, Lijie Wu
The phenotypic heterogeneity of Autism Spectrum Disorders (ASD) presents particular research challenges in the assessment of symptom severity, while the standardized Autism Diagnostic Observation Schedule (ADOS) scores present a severity metric, namely calibrated severity scores (CSS) that are relatively impervious to individual characteristics. To date, no studies have examined the convergent validity of CSS in Chinese sample populations. The present study investigated the validity of the ADOS-CSS using a sample of 321 children aged 2-18 years with ASD, and developed upon existing literature examining the influence of non-ASD-specific characteristics on other types of measures including Autism Diagnostic Interview-Revised (ADI-R), Social Responsiveness Scale (SRS), and Vineland Adaptive Behavior Scales (VABS)...
January 5, 2018: Psychiatry Research
https://www.readbyqxmd.com/read/29325848/a-genetic-investigation-of-sex-bias-in-the-prevalence-of-attention-deficit-hyperactivity-disorder
#5
Joanna Martin, Raymond K Walters, Ditte Demontis, Manuel Mattheisen, S Hong Lee, Elise Robinson, Isabell Brikell, Laura Ghirardi, Henrik Larsson, Paul Lichtenstein, Nicholas Eriksson, Thomas Werge, Preben Bo Mortensen, Marianne Giørtz Pedersen, Ole Mors, Merete Nordentoft, David M Hougaard, Jonas Bybjerg-Grauholm, Naomi R Wray, Barbara Franke, Stephen V Faraone, Michael C O'Donovan, Anita Thapar, Anders D Børglum, Benjamin M Neale
BACKGROUND: Attention-deficit/hyperactivity disorder (ADHD) shows substantial heritability and is two to seven times more common in male individuals than in female individuals. We examined two putative genetic mechanisms underlying this sex bias: sex-specific heterogeneity and higher burden of risk in female cases. METHODS: We analyzed genome-wide autosomal common variants from the Psychiatric Genomics Consortium and iPSYCH Project (n = 20,183 cases, n = 35,191 controls) and Swedish population register data (n = 77,905 cases, n = 1,874,637 population controls)...
December 2, 2017: Biological Psychiatry
https://www.readbyqxmd.com/read/29325626/fragile-x-syndrome-and-fragile-x-associated-tremor-ataxia-syndrome
#6
Deborah A Hall, Elizabeth Berry-Kravis
Fragile X-associated disorders encompass several conditions, which are caused by expansion mutations in the fragile X mental retardation 1 (FMR1) gene. Fragile X syndrome is the most common inherited etiology of intellectual disability and results from a full mutation or >200 CGG repeats in FMR1. It is associated with developmental delay, autism spectrum disorder, and seizures. Fragile X-associated tremor/ataxia syndrome is a progressive neurodegenerative disease that occurs in premutation carriers of 55-200 CGG repeats in FMR1 and is characterized by kinetic tremor, gait ataxia, parkinsonism, executive dysfunction, and neuropathy...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29324255/aberrant-autistic-and-food-related-behaviors-in-adults-with-prader-willi-syndrome-the-comparison-between-young-adults-and-adults
#7
Hiroyuki Ogata, Hiroshi Ihara, Masao Gito, Masayuki Sayama, Nobuyuki Murakami, Tadayuki Ayabe, Yuji Oto, Toshiro Nagai, Kazutaka Shimoda
This study aims to explore the differences of age as well as genotype in regards to the severity of behavioral symptoms in Prader-Willi syndrome (PWS), with emphasis on the comparison between youngadults and adults.The Food Related Problem Questionnaire (FRPQ), the Aberrant Behavior Checklist Japanese Version (ABC-J), and the Pervasive Developmental Disorders Autism Society Japan Rating Scale (PARS) were administered to 46 PWS patients, including 33 young adults (ages 18-28) and 13 adults(ages 30-45). To examine the differences between young adults and adults, Mann-Whitney U tests were conducted...
January 8, 2018: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/29322385/associations-between-resilience-and-the-well-being-of-mothers-of-children-with-autism-spectrum-disorder-and-other-developmental-disabilities
#8
Elizabeth Halstead, Naomi Ekas, Richard P Hastings, Gemma M Griffith
There is variability in the extent to which mothers are affected by the behavior problems of their children with developmental disabilities (DD). We explore whether maternal resilience functions as a protective or compensatory factor. In Studies 1 and 2, using moderated multiple regression models, we found evidence that maternal resilience functioned as a compensatory factor-having a significant independent main effect relationship with well-being outcomes in mothers of children with DD and autism spectrum disorder...
January 10, 2018: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/29321841/reversed-gender-ratio-of-autism-spectrum-disorder-in-smith-magenis-syndrome
#9
Heidi Elisabeth Nag, Ann Nordgren, Britt-Marie Anderlid, Terje Nærland
Background: A substantial amount of research shows a higher rate of autistic type of problems in males compared to females. The 4:1 male to female ratio is one of the most consistent findings in autism spectrum disorder (ASD).Lately, the interest in studying ASD in genetic disorders has increased, and research has shown a higher prevalence of ASD in some genetic disorders than in the general population.Smith-Magenis syndrome (SMS) is a rare and complex genetic syndrome caused by an interstitial deletion of chromosome 17p11...
2018: Molecular Autism
https://www.readbyqxmd.com/read/29318938/pitt-hopkins-syndrome-a-review-of-current-literature-clinical-approach-and-23-patient-case-series
#10
Kimberly Goodspeed, Cassandra Newsom, Mary Ann Morris, Craig Powell, Patricia Evans, Sailaja Golla
Pitt-Hopkins syndrome (PTHS) is a rare, genetic disorder caused by a molecular variant of TCF4 which is involved in embryologic neuronal differentiation. PTHS is characterized by syndromic facies, psychomotor delay, and intellectual disability. Other associated features include early-onset myopia, seizures, constipation, and hyperventilation-apneic spells. Many also meet criteria for autism spectrum disorder. Here the authors present a series of 23 PTHS patients with molecularly confirmed TCF4 variants and describe 3 unique individuals...
January 1, 2018: Journal of Child Neurology
https://www.readbyqxmd.com/read/29317992/transposition-of-the-great-arteries-a-phenotype-associated-with-16p11-2-duplications
#11
Zarmiga Karunanithi, Else Marie Vestergaard, Mette H Lauridsen
Genetic analyses of patients with transposition of the great arteries have identified rare copy number variations, suggesting that they may be significant to the aetiology of the disease. This paper reports the identification of a 16p11.2 microduplication, a variation that has yet to be reported in association with transposition of the great arteries. The 16p11.2 microduplication is associated with autism spectrum disorder and developmental delay, but with highly variable phenotypic effects. Autism and attention deficit disorders are observed more frequently in children with congenital heart disease than in the general population...
December 26, 2017: World Journal of Cardiology
https://www.readbyqxmd.com/read/29317601/common-basis-for-orofacial-clefting-and-cortical-interneuronopathy
#12
Lydia J Ansen-Wilson, Joshua L Everson, Dustin M Fink, Henry W Kietzman, Ruth Sullivan, Robert J Lipinski
Orofacial clefts (OFCs) of the lip and/or palate are among the most common human birth defects. Current treatment strategies focus on functional and cosmetic repair but even when this care is available, individuals born with OFCs are at high risk for persistent neurobehavioral problems. In addition to learning disabilities and reduced academic achievement, recent evidence associates OFCs with elevated risk for a constellation of psychiatric outcomes including anxiety disorders, autism spectrum disorder, and schizophrenia...
January 10, 2018: Translational Psychiatry
https://www.readbyqxmd.com/read/29317598/enriched-expression-of-genes-associated-with-autism-spectrum-disorders-in-human-inhibitory-neurons
#13
Ping Wang, Dejian Zhao, Herbert M Lachman, Deyou Zheng
Autism spectrum disorder (ASD) is highly heritable but genetically heterogeneous. The affected neural circuits and cell types remain unclear and may vary at different developmental stages. By analyzing multiple sets of human single cell transcriptome profiles, we found that ASD candidates showed relatively enriched gene expression in neurons, especially in inhibitory neurons. ASD candidates were also more likely to be the hubs of the co-expression gene module that is highly expressed in inhibitory neurons, a feature not detected for excitatory neurons...
January 10, 2018: Translational Psychiatry
https://www.readbyqxmd.com/read/29313185/comparing-attention-to-socially-relevant-stimuli-in-autism-spectrum-disorder-and-developmental-coordination-disorder
#14
Emma Sumner, Hayley C Leonard, Elisabeth L Hill
Difficulties with social interaction have been reported in both children with an autism spectrum disorder (ASD) and children with developmental coordination disorder (DCD), although these disorders have very different diagnostic characteristics. To date, assessment of social skills in a DCD population has been limited to paper-based assessment or parent report. The present study employed eye tracking methodology to examine how children attend to socially-relevant stimuli, comparing 28 children with DCD, 28 children with ASD and 26 typically-developing (TD) age-matched controls (aged 7-10)...
January 9, 2018: Journal of Abnormal Child Psychology
https://www.readbyqxmd.com/read/29307041/an-initial-psychometric-evaluation-of-the-joint-attention-protocol
#15
Sallie W Nowell, Linda R Watson, Richard A Faldowski, Grace T Baranek
The goal of this paper is to examine the psychometric properties of a live-coded behavioral measure of joint attention, the Attention-Following and Initiating Joint Attention Protocol (JA Protocol), in order to assist researchers and clinicians in identifying when this measure may meet their joint attention assessment needs. Data from 260 children with autism spectrum disorder, developmental delay, or typical development between the ages of 2 and 12 years were used to evaluate this measure using quality standards for measurement...
January 6, 2018: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/29303456/bobble-head-doll-syndrome-report-of-2-cases-and-a-review-of-the-literature-with-video-documentation-of-the-clinical-phenomenon
#16
Bryan Renne, Stefan Rueckriegel, Sudheesh Ramachandran, Julia Radic, Paul Steinbok, Ash Singhal
Bobble-head doll syndrome (BHDS) is a rare pediatric movement disorder presenting with involuntary 2- to 3-Hz head movements. Common signs and symptoms also found on presentation include macrocephaly, ataxia, developmental delay, optic disc pallor or atrophy, hyperreflexia, tremor, obesity, endocrinopathy, visual disturbance or impairment, headache, and vomiting, among others. The syndrome is associated with suprasellar cysts, third ventricular cysts, or aqueductal obstruction, along with a few other less common conditions...
January 5, 2018: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/29301738/second-version-of-google-glass-as-a-wearable-socio-affective-aid-positive-school-desirability-high-usability-and-theoretical-framework-in-a-sample-of-children-with-autism
#17
Ned T Sahin, Neha U Keshav, Joseph P Salisbury, Arshya Vahabzadeh
BACKGROUND: Computerized smartglasses are being developed as an assistive technology for daily activities in children and adults with autism spectrum disorder (ASD). While smartglasses may be able to help with educational and behavioral needs, their usability and acceptability in children with ASD is largely unknown. There have been reports of negative social perceptions surrounding smartglasses use in mainstream populations, a concern given that assistive technologies may already carry their own stigma...
January 4, 2018: JMIR Human Factors
https://www.readbyqxmd.com/read/29300843/reduced-local-and-increased-long-range-functional-connectivity-of-the-thalamus-in-autism-spectrum-disorder
#18
Dardo Tomasi, Nora D Volkow
It is hypothesized that brain network abnormalities in autism spectrum disorder (ASD) reflect local overconnectivity and long-range underconnectivity. However, this is not a consistent finding in recent studies, which could reflect the developmental nature and the heterogeneity of ASD. Here, we tested 565 ASD and 602 neurotypical (NT) males, and 91 ASD and 233 NT females using local functional connectivity density (lFCD) mapping and seed-voxel correlation analyses to assess how local and long-range connectivities differ in ASD...
December 29, 2017: Cerebral Cortex
https://www.readbyqxmd.com/read/29290407/expanding-access-to-clinical-services-for-toddlers-with-autism-spectrum-disorders
#19
Therese L Mathews, Ashley M Lugo, Melissa L King, Laura L Needelman, Paige E McArdle, Natalie Romer, Megan Terry, Kathryn Menousek, Joseph H Evans, William J Higgins
Autism spectrum disorder (ASD) is a neurodevelopmental disorder typically diagnosed in the toddler and preschool years. Intensive early intervention (EI) using applied behavior analytic procedures is the evidenced-based intervention most effective in improving developmental outcomes. Unfortunately, there are numerous barriers to accessing EI services for toddlers with ASD. This article addresses (a) the process of developing an EI program using primarily applied behavior analytic services with multidisciplinary health care providers, (b) a description of the service delivery provided, (c) educational and training programs to increase qualified staff, and (d) advocacy efforts to improve community capacity...
December 28, 2017: Journal of Pediatric Health Care
https://www.readbyqxmd.com/read/29276530/inattention-and-hyperactivity-in-association-with-autism-spectrum-disorders-in-the-charge-study
#20
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
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