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Autism, developmental disorders

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https://www.readbyqxmd.com/read/28221363/premature-primary-tooth-eruption-in-cognitive-motor-delayed-adnp-mutated-children
#1
I Gozes, A Van Dijck, G Hacohen-Kleiman, I Grigg, G Karmon, E Giladi, M Eger, Y Gabet, M Pasmanik-Chor, E Cappuyns, O Elpeleg, R F Kooy, S Bedrosian-Sermone
A major flaw in autism spectrum disorder (ASD) management is late diagnosis. Activity-dependent neuroprotective protein (ADNP) is a most frequent de novo mutated ASD-related gene. Functionally, ADNP protects nerve cells against electrical blockade. In mice, complete Adnp deficiency results in dysregulation of over 400 genes and failure to form a brain. Adnp haploinsufficiency results in cognitive and social deficiencies coupled to sex- and age-dependent deficits in the key microtubule and ion channel pathways...
February 21, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28220358/potential-risk-factors-for-the-development-of-self-injurious-behavior-among-infants-at-risk-for-autism-spectrum-disorder
#2
Adele F Dimian, Kelly N Botteron, Stephen R Dager, Jed T Elison, Annette M Estes, John R Pruett, Robert T Schultz, Lonnie Zwaigenbaum, Joseph Piven, Jason J Wolff
Prevalence of self-injurious behavior (SIB) is as high as 50% among children with autism spectrum disorder (ASD). Identification of risk factors for the development of SIB is critical to early intervention and prevention. However, there is little empirical research utilizing a prospective design to identify early risk factors for SIB. The purpose of this study was to evaluate behavioral characteristics predicting SIB at age 2 years among 235 infants at high familial risk for ASD. Logistic regression results indicated that presence of SIB or proto-SIB and lower developmental functioning at age 12 months significantly predicted SIB at 24 months...
February 20, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28220059/disturbance-in-maternal-environment-leads-to-abnormal-synaptic-instability-during-neuronal-circuitry-development
#3
REVIEW
Yusuke Hatanaka, Tomohiro Kabuta, Keiji Wada
Adverse maternal environment during gestation and lactation can have negative effects on the developing brain that persist into adulthood and result in behavioral impairment. Recent studies of human and animal models suggest epidemiological and experimental association between disturbances in maternal environments during brain development and the occurrence of neuropsychiatric disorders, including autism spectrum disorder, attention deficit hyperactivity disorder, schizophrenia, anxiety, depression, and neurodegenerative diseases...
2017: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/28219280/disability-diversity-and-autism-philosophical-perspectives-on-health
#4
Lidia Ripamonti
This paper aims to explore the connection between health and developmental disorders, particularly in regard to the notion of 'neurodiversity', which considers high-functioning autism not as a lifelong disability but a neurological form within a diversity of human minds. In recent years, autistic activist movements have called for a more positive, humanizing, identity-first language when describing this condition, rejecting negative language such as 'disorder', 'deficit', and 'impairment', and instead describing autism as a way of being, part of one's personal identity, which does not always need to be cured...
April 2016: New Bioethics: a Multidisciplinary Journal of Biotechnology and the Body
https://www.readbyqxmd.com/read/28214260/autism-its-cultural-modulation-and-niche-construction-in-societies-reply-to-comments-on-implications-of-the-idea-of-neurodiversity-for-understanding-the-origins-of-developmental-disorders
#5
https://www.readbyqxmd.com/read/28213805/an-overview-of-autism-spectrum-disorder-heterogeneity-and-treatment-options
#6
REVIEW
Anne Masi, Marilena M DeMayo, Nicholas Glozier, Adam J Guastella
Since the documented observations of Kanner in 1943, there has been great debate about the diagnoses, the sub-types, and the diagnostic threshold that relates to what is now known as autism spectrum disorder (ASD). Reflecting this complicated history, there has been continual refinement from DSM-III with 'Infantile Autism' to the current DSM-V diagnosis. The disorder is now widely accepted as a complex, pervasive, heterogeneous condition with multiple etiologies, sub-types, and developmental trajectories. Diagnosis remains based on observation of atypical behaviors, with criteria of persistent deficits in social communication and restricted and repetitive patterns of behavior...
February 17, 2017: Neuroscience Bulletin
https://www.readbyqxmd.com/read/28213183/a-role-for-the-serotonin-reuptake-transporter-in-the-brain-and-intestinal-features-of-autism-spectrum-disorders-and-developmental-antidepressant-exposure
#7
REVIEW
Kara Gross Margolis
Many disease conditions considered CNS-predominant harbor significant intestinal comorbidities. Serotonin (5-HT) and the serotonin reuptake transporter (SERT) have increasingly been shown to play important roles in both brain and intestinal development and long-term function. 5-HT and SERT may thus modulate critical functions in the development and perpetuation of brain-gut axis disease. We discuss the potential roles of 5-HT and SERT in the brain and intestinal manifestations of autism spectrum disorders and developmental antidepressant exposure...
February 14, 2017: Journal of Chemical Neuroanatomy
https://www.readbyqxmd.com/read/28203249/autism-spectrum-disorder-detection-from-semi-structured-and-unstructured-medical-data
#8
Jianbo Yuan, Chester Holtz, Tristram Smith, Jiebo Luo
Autism spectrum disorder (ASD) is a developmental disorder that significantly impairs patients' ability to perform normal social interaction and communication. Moreover, the diagnosis procedure of ASD is highly time-consuming, labor-intensive, and requires extensive expertise. Although there exists no known cure for ASD, there is consensus among clinicians regarding the importance of early intervention for the recovery of ASD patients. Therefore, to benefit autism patients by enhancing their access to treatments such as early intervention, we aim to develop a robust machine learning-based system for autism detection by using Natural Language Processing techniques based on information extracted from medical forms of potential ASD patients...
December 2017: EURASIP Journal on Bioinformatics & Systems Biology
https://www.readbyqxmd.com/read/28195316/structural-hierarchy-of-autism-spectrum-disorder-symptoms-an-integrative-framework
#9
Hyunsik Kim, Cara M Keifer, Craig Rodriguez-Seijas, Nicholas R Eaton, Matthew D Lerner, Kenneth D Gadow
BACKGROUND: In an attempt to resolve questions regarding the symptom classification of autism spectrum disorder (ASD), previous research generally aimed to demonstrate superiority of one model over another. Rather than adjudicating which model may be optimal, we propose an alternative approach that integrates competing models using Goldberg's bass-ackwards method, providing a comprehensive understanding of the underlying symptom structure of ASD. METHODS: The study sample comprised 3,825 individuals, consecutive referrals to a university hospital developmental disabilities specialty clinic or a child psychiatry outpatient clinic...
February 14, 2017: Journal of Child Psychology and Psychiatry, and Allied Disciplines
https://www.readbyqxmd.com/read/28194760/developmental-psychopathology-in-the-post-genomics-era-substantial-challenges-but-reasons-for-hope
#10
EDITORIAL
Jeffrey M Halperin
One only has to quickly look through the Table of Contents for this issue of JCPP to gain an appreciation of the ever-increasing influence of genetic research in the field of developmental psychopathology. Among the 13 articles in this issue that follow this editorial: two employ large family and/or twin studies to provide compelling behavioral genetic findings bolstering the importance of genes in the emergence of ADHD (Chen, Brikell, Lichtenstein, Serlachius, Kuja-Halkola, Sandin, and Larsson) and level of educational achievement in adolescents (Lewis, Asbury, and Plomin); one paper focuses on cortical development in patients with 22q11...
March 2017: Journal of Child Psychology and Psychiatry, and Allied Disciplines
https://www.readbyqxmd.com/read/28192369/synaptic-unc13a-protein-variant-causes-increased-neurotransmission-and-dyskinetic-movement-disorder
#11
Noa Lipstein, Nanda M Verhoeven-Duif, Francesco E Michelassi, Nathaniel Calloway, Peter M van Hasselt, Katarzyna Pienkowska, Gijs van Haaften, Mieke M van Haelst, Ron van Empelen, Inge Cuppen, Heleen C van Teeseling, Annemieke M V Evelein, Jacob A Vorstman, Sven Thoms, Olaf Jahn, Karen J Duran, Glen R Monroe, Timothy A Ryan, Holger Taschenberger, Jeremy S Dittman, Jeong-Seop Rhee, Gepke Visser, Judith J Jans, Nils Brose
Munc13 proteins are essential regulators of neurotransmitter release at nerve cell synapses. They mediate the priming step that renders synaptic vesicles fusion-competent, and their genetic elimination causes a complete block of synaptic transmission. Here we have described a patient displaying a disorder characterized by a dyskinetic movement disorder, developmental delay, and autism. Using whole-exome sequencing, we have shown that this condition is associated with a rare, de novo Pro814Leu variant in the major human Munc13 paralog UNC13A (also known as Munc13-1)...
February 13, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28191890/refining-the-role-of-de-novo-protein-truncating-variants-in-neurodevelopmental-disorders-by-using-population-reference-samples
#12
Jack A Kosmicki, Kaitlin E Samocha, Daniel P Howrigan, Stephan J Sanders, Kamil Slowikowski, Monkol Lek, Konrad J Karczewski, David J Cutler, Bernie Devlin, Kathryn Roeder, Joseph D Buxbaum, Benjamin M Neale, Daniel G MacArthur, Dennis P Wall, Elise B Robinson, Mark J Daly
Recent research has uncovered an important role for de novo variation in neurodevelopmental disorders. Using aggregated data from 9,246 families with autism spectrum disorder, intellectual disability, or developmental delay, we found that ∼1/3 of de novo variants are independently present as standing variation in the Exome Aggregation Consortium's cohort of 60,706 adults, and these de novo variants do not contribute to neurodevelopmental risk. We further used a loss-of-function (LoF)-intolerance metric, pLI, to identify a subset of LoF-intolerant genes containing the observed signal of associated de novo protein-truncating variants (PTVs) in neurodevelopmental disorders...
February 13, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28191889/targeted-sequencing-identifies-91-neurodevelopmental-disorder-risk-genes-with-autism-and-developmental-disability-biases
#13
Holly A F Stessman, Bo Xiong, Bradley P Coe, Tianyun Wang, Kendra Hoekzema, Michaela Fenckova, Malin Kvarnung, Jennifer Gerdts, Sandy Trinh, Nele Cosemans, Laura Vives, Janice Lin, Tychele N Turner, Gijs Santen, Claudia Ruivenkamp, Marjolein Kriek, Arie van Haeringen, Emmelien Aten, Kathryn Friend, Jan Liebelt, Christopher Barnett, Eric Haan, Marie Shaw, Jozef Gecz, Britt-Marie Anderlid, Ann Nordgren, Anna Lindstrand, Charles Schwartz, R Frank Kooy, Geert Vandeweyer, Celine Helsmoortel, Corrado Romano, Antonino Alberti, Mirella Vinci, Emanuela Avola, Stefania Giusto, Eric Courchesne, Tiziano Pramparo, Karen Pierce, Srinivasa Nalabolu, David G Amaral, Ingrid E Scheffer, Martin B Delatycki, Paul J Lockhart, Fereydoun Hormozdiari, Benjamin Harich, Anna Castells-Nobau, Kun Xia, Hilde Peeters, Magnus Nordenskjöld, Annette Schenck, Raphael A Bernier, Evan E Eichler
Gene-disruptive mutations contribute to the biology of neurodevelopmental disorders (NDDs), but most of the related pathogenic genes are not known. We sequenced 208 candidate genes from >11,730 cases and >2,867 controls. We identified 91 genes, including 38 new NDD genes, with an excess of de novo mutations or private disruptive mutations in 5.7% of cases. Drosophila functional assays revealed a subset with increased involvement in NDDs. We identified 25 genes showing a bias for autism versus intellectual disability and highlighted a network associated with high-functioning autism (full-scale IQ >100)...
February 13, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28190537/further-evidence-that-d-glycerate-kinase-gk-deficiency-is-a-benign-disorder
#14
Attia Kalim, Patricia Fitzsimons, Claudia Till, Malkanthi Fernando, Philip Mayne, Jorn Oliver Sass, Ellen Crushell
d-Glyceric aciduria is caused by deficiency in d-glycerate kinase (GK) due to recessive mutations in the GLYCTK gene. GK catalyzes the conversion of d-glycerate to 2-phosphoglycerate which is an intermediary reaction in the catabolism of serine and fructose. Deficiency of GK leads to accumulation of d-glycerate, which may be detected in urine organic acid analysis. Debate exists as to whether this is a benign or disease-causing disorder as the reported phenotypes vary significantly. We report two siblings from a consanguineous Pakistani family...
February 9, 2017: Brain & Development
https://www.readbyqxmd.com/read/28182143/a-possible-role-of-the-infant-toddler-sensory-profile-in-screening-for-autism-a-proof-of-concept-study-in-the-specific-sample-of-prematurely-born-children-with-birth-weights-1-500-g
#15
Stepanka Beranova, Jan Stoklasa, Iva Dudova, Daniela Markova, Martina Kasparova, Jana Zemankova, Tomas Urbanek, Tomas Talasek, Pasi Luukka, Michal Hrdlicka
OBJECTIVE: The objective of this study was to explore the potential of the Infant/Toddler Sensory Profile (ITSP) as a screening tool for autism spectrum disorders (ASD) in prematurely born children. METHODS: Parents of 157 children with birth weights <1,500 g (aged 2 years, corrected for prematurity; 88 boys, 69 girls) completed a screening battery that included the ITSP, Modified Checklist for Autism in Toddlers (M-CHAT), and the Communication and Symbolic Behavior Scales Developmental Profile Infant-Toddler Checklist (CSBS-DP-ITC)...
2017: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/28181411/infant-muscle-tone-and-childhood-autistic-traits-a-longitudinal-study-in-the-general-population
#16
Fadila Serdarevic, Akhgar Ghassabian, Tamara van Batenburg-Eddes, Tonya White, Laura M E Blanken, Vincent W V Jaddoe, Frank C Verhulst, Henning Tiemeier
In a longitudinal population-based study of 2,905 children, we investigated if infants' neuromotor development was associated with autistic traits in childhood. Overall motor development and muscle tone were examined by trained research assistants with an adapted version of Touwen's Neurodevelopmental Examination between ages 2 and 5 months. Tone was assessed in several positions and items were scored as normal, low, or high tone. Parents rated their children's autistic traits with the Social Responsiveness Scale (SRS) and the Pervasive Developmental Problems (PDP) subscale of the Child Behavior Checklist at 6 years...
February 9, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28174606/lateralization-of-erps-to-speech-and-handedness-in-the-early-development-of-autism-spectrum-disorder
#17
Kayla H Finch, Anne M Seery, Meagan R Talbott, Charles A Nelson, Helen Tager-Flusberg
BACKGROUND: Language is a highly lateralized function, with typically developing individuals showing left hemispheric specialization. Individuals with autism spectrum disorder (ASD) often show reduced or reversed hemispheric lateralization in response to language. However, it is unclear when this difference emerges and whether or not it can serve as an early ASD biomarker. Additionally, atypical language lateralization is not specific to ASD as it is also seen more frequently in individuals with mixed- and left-handedness...
2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/28167642/what-can-large-population-based-birth-cohort-study-ask-about-past-present-and-future-of-children-with-disorders-of-development-learning-and-behaviour
#18
Slavica K Katusic, Robert C Colligan, Scott M Myers, Robert G Voigt, Kouichi Yoshimasu, Ruth E Stoeckel, Amy L Weaver
A large cohort consisting of all children born to mothers from community provides 'natural' selection into different exposures and is a powerful resource for epidemiological research. A large population-based birth cohort with detailed systematic information already recorded, as part of longitudinal medical care, historical and current school data, detailed birth certificate data and all three resources available for every member of the birth cohort, are extremely rare. Our population-based birth cohort consists of all children born between 1976 and 2000 to mothers residing in Olmsted County, Minnesota, at the time of child's birth (N=39 890)...
February 6, 2017: Journal of Epidemiology and Community Health
https://www.readbyqxmd.com/read/28166747/investigating-the-validation-of-the-chinese-mandarin-version-of-the-social-responsiveness-scale-in-a-mainland-china-child-population
#19
Chao-Qun Cen, Ya-Yong Liang, Qiu-Ru Chen, Kai-Yun Chen, Hong-Zhu Deng, Bi-Yuan Chen, Xiao-Bing Zou
BACKGROUND: Researchers from several different countries have found the Social Responsiveness Scale (SRS) to have good psychometric properties. However, to our knowledge, no studies on this subject have been reported in Mainland China. In this study, we investigated the psychometric properties of the Chinese Mandarin version of the SRS when used in Mainland China. METHODS: The reliability and validity of the parent-report SRS in a sample of 749 children of 4- to 14-year-olds: 411 typically developing and 338 clinical participants (202 with autism spectrum disorder (ASD)) were examined...
February 6, 2017: BMC Psychiatry
https://www.readbyqxmd.com/read/28162107/dense-home-based-recordings-reveal-typical-and-atypical-development-of-tense-aspect-in-a-child-with-delayed-language-development
#20
Iris Chin, Matthew S Goodwin, Soroush Vosoughi, Deb Roy, Letitia R Naigles
Studies investigating the development of tense/aspect in children with developmental disorders have focused on production frequency and/or relied on short spontaneous speech samples. How children with developmental disorders use future forms/constructions is also unknown. The current study expands this literature by examining frequency, consistency, and productivity of past, present, and future usage, using the Speechome Recorder, which enables collection of dense, longitudinal audio-video recordings of children's speech...
February 6, 2017: Journal of Child Language
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