keyword
MENU ▼
Read by QxMD icon Read
search

developmental language disorder

keyword
https://www.readbyqxmd.com/read/28296084/de-novo-loss-of-function-variants-in-stag2-are-associated-with-developmental-delay-microcephaly-and-congenital-anomalies
#1
Sureni V Mullegama, Steven D Klein, Milene V Mulatinho, Tharanga Niroshini Senaratne, Kathryn Singh, Dzung C Nguyen, Natalie M Gallant, Samuel P Strom, Shahnaz Ghahremani, Nagesh P Rao, Julian A Martinez-Agosto
The cohesin complex is an evolutionarily conserved multi-subunit protein complex which regulates sister chromatid cohesion during mitosis and meiosis. Additionally, the cohesin complex regulates DNA replication, DNA repair, and transcription. The core of the complex consists of four subunits: SMC1A, SMC3, RAD21, and STAG1/2. Loss-of-function mutations in many of these proteins have been implicated in human developmental disorders collectively termed "cohesinopathies." Through clinical exome sequencing (CES) of an 8-year-old girl with a clinical history of global developmental delay, microcephaly, microtia with hearing loss, language delay, ADHD, and dysmorphic features, we describe a heterozygous de novo variant (c...
March 11, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28289475/combined-genome-wide-linkage-and-targeted-association-analysis-of-head-circumference-in-autism-spectrum-disorder-families
#2
M Woodbury-Smith, D A Bilder, J Morgan, L Jerominski, T Darlington, T Dyer, A D Paterson, H Coon
BACKGROUND: It has long been recognized that there is an association between enlarged head circumference (HC) and autism spectrum disorder (ASD), but the genetics of HC in ASD is not well understood. In order to investigate the genetic underpinning of HC in ASD, we undertook a genome-wide linkage study of HC followed by linkage signal targeted association among a sample of 67 extended pedigrees with ASD. METHODS: HC measurements on members of 67 multiplex ASD extended pedigrees were used as a quantitative trait in a genome-wide linkage analysis...
2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/28270343/comprehensive-neuropsychological-evaluation-of-children-and-adolescents-with-sickle-cell-anemia-a-hospital-based-sample
#3
Samantha Nunes, Nayara Argollo, Marivania Mota, Camilo Vieira, Eduardo Pondé de Sena
BACKGROUND: Individuals with sickle cell anemia may suffer symptomatic or silent cerebral infarcts leading to neurocognitive complications. This study investigated the cognitive and intellectual performance of children and adolescents with sickle cell anemia. METHODS: The socioeconomic status, clinical aspects and behavioral profile of 15 young individuals with sickle cell anemia were evaluated. The Wechsler Intelligence Scale for Children, the Developmental Neuropsychological Assessment Test, and the Child Behavior Checklist were applied...
January 2017: Revista Brasileira de Hematologia e Hemoterapia
https://www.readbyqxmd.com/read/28265795/brief-report-the-ados-calibrated-severity-score-best-measures-autism-diagnostic-symptom-severity-in-pre-school-children
#4
Lisa D Wiggins, Brian Barger, Eric Moody, Gnakub Soke, Juhi Pandey, Susan Levy
The severity of autism spectrum disorder (ASD) is often measured by co-occurring conditions, such as intellectual disability or language delay, rather than deficits in social interaction, and restricted interests and repetitive behaviors. The Autism Diagnostic Observation Schedule calibrated severity score (ADOS CSS) was created to facilitate comparison of the diagnostic features of ASD independent of related conditions over time. We examined the relationship between the ADOS CSS, ADOS total score, and clinician rated degree of impairment (DOI) in the Study to Explore Early Development...
March 6, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28256101/the-procedural-learning-deficit-hypothesis-of-language-learning-disorders-we-see-some-problems
#5
Gillian West, Miguel A Vadillo, David R Shanks, Charles Hulme
Impaired procedural learning has been suggested as a possible cause of developmental dyslexia (DD) and specific language impairment (SLI). This study examined the relationship between measures of verbal and non-verbal implicit and explicit learning and measures of language, literacy and arithmetic attainment in a large sample of 7 to 8-year-old children. Measures of verbal explicit learning were correlated with measures of attainment. In contrast, no relationships between measures of implicit learning and attainment were found...
March 2, 2017: Developmental Science
https://www.readbyqxmd.com/read/28255759/language-environment-analysis-lena-in-phelan-mcdermid-syndrome-validity-and-suggestions-for-use-in-minimally-verbal-children-with-autism-spectrum-disorder
#6
Jacquelin Rankine, Erin Li, Stacey Lurie, Hillary Rieger, Emily Fourie, Paige M Siper, A Ting Wang, Joseph D Buxbaum, Alexander Kolevzon
Phelan-McDermid syndrome (PMS) is a single-locus cause of developmental delay, autism spectrum disorder, and minimal verbal abilities. There is an urgent need to identify objective outcome measures of expressive language for use in this and other minimally verbal populations. One potential tool is an automated language processor called Language ENvironment Analysis (LENA). LENA was used to obtain over 542 h of audio in 18 children with PMS. LENA performance was adequate in a subset of children with PMS, specifically younger children and those with fewer stereotypic vocalizations...
March 2, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28253736/identification-of-developmental-and-behavioral-markers-associated-with-genetic-abnormalities-in-autism-spectrum-disorder
#7
Somer L Bishop, Cristan Farmer, Vanessa Bal, Elise B Robinson, A Jeremy Willsey, Donna M Werling, Karoline Alexandra Havdahl, Stephan J Sanders, Audrey Thurm
OBJECTIVE: Aside from features associated with risk of neurogenetic syndromes in general (e.g., cognitive impairment), limited progress has been made in identifying phenotype-genotype relationships in autism spectrum disorder (ASD). The objective of this study was to extend work in the Simons Simplex Collection by comparing the phenotypic profiles of ASD probands with or without identified de novo loss of function mutations or copy number variants in high-confidence ASD-associated genes or loci...
March 3, 2017: American Journal of Psychiatry
https://www.readbyqxmd.com/read/28240650/access-to-developmental-pediatrics-evaluations-for-at-risk-children
#8
Manuel E Jimenez, Emmanuel M Alcaraz, Jerome Williams, Brian L Strom
OBJECTIVE: To determine a national average wait time for developmental pediatric evaluations and to understand differences in access based on whether an appointment is requested by an English or Spanish-speaking caller. METHODS: We conducted a mystery shopper study in which a bilingual research assistant called developmental pediatrics programs affiliated with US children's hospitals listed on a public directory requesting an appointment for his simulated child experiencing a developmental problem...
February 23, 2017: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/28236100/brief-report-what-drives-parental-concerns-about-their-18-month-olds-at-familial-risk-for-autism-spectrum-disorder
#9
Elizabeth A Karp, Lisa V Ibañez, Zachary Warren, Wendy L Stone
Parent-reported developmental concerns can be a first step toward further screening and intervention for children at risk for ASD. However, little is known about the extent to which parental well-being and child behavior contribute to parental concerns, especially in families who already have one child with ASD. This study included 54 parents and their 18-month-old high-risk toddlers to examine the extent to which parents' well-being (i.e., parenting stress and self-efficacy), and children's behavior (i.e., expressive language and social communication) contribute to parents' concerns regarding their toddler's development...
February 24, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28229835/-neurodevelopmental-outcomes-of-very-preterm-or-very-low-birth-weigth-infants-comparison-of-monochorionic-and-dichorionic-twins-with-singletons
#10
Adelaide Taborda, Guiomar Oliveira
INTRODUCTION: Twins are associated with a delayed development and cerebral palsy. The purpose of this work was to compare the neurologic morbidity in very preterm or very low birth weight dichorionic and monochorionic twins with singletons. MATERIAL AND METHODS: We conducted a retrospective cohort study of livebirths lowest through 32 weeks of gestation or very low weight infants admitted to Neonatal Intensive Care Unit of a level III hospital, between 2006 and 2010...
November 2016: Acta Médica Portuguesa
https://www.readbyqxmd.com/read/28224095/culturally-adapted-pictorial-screening-tool-for-autism-spectrum-disorder-a-new-approach
#11
Hemamali Perera, Kamal Chandima Jeewandara, Sudarshi Seneviratne, Chandima Guruge
AIM: To assess the performance of a newly designed, culturally adapted screening tool for autism spectrum disorder (ASD). METHODS: Items for the screening tool were modeled from already documented checklists and diagnostic criteria for ASD. Each item in text was paired with a photograph that illustrated the written content, which was in the 2 main local languages. The final product had 21 items and was named the pictorial autism assessment schedule (PAAS). Performance of PAAS was tested on a clinical sample of 18-48 mo old children, diagnosis naïve, presenting with developmental deficits...
February 8, 2017: World Journal of Clinical Pediatrics
https://www.readbyqxmd.com/read/28219280/disability-diversity-and-autism-philosophical-perspectives-on-health
#12
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/28217150/infantile-tremor-syndrome-a-review-and-critical-appraisal-of-its-etiology
#13
REVIEW
Jatinder Singh Goraya, Sukhjot Kaur
Infantile tremor syndrome (ITS) is defined by the tetrad of pallor, developmental delay/regression, skin pigmentation, and brown scanty scalp hair. Involuntary movements in the form of tremors supervene in the natural course of the illness in a significant number of cases. The disorder occurs in exclusively breast-fed infants of vegetarian mothers belonging to economically deprived sections of society. Most of the children eventually recover but are frequently left with long-term cognitive and language neurodeficits...
October 2016: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28204923/language-deprivation-syndrome-a-possible-neurodevelopmental-disorder-with-sociocultural-origins
#14
Wyatte C Hall, Leonard L Levin, Melissa L Anderson
PURPOSE: There is a need to better understand the epidemiological relationship between language development and psychiatric symptomatology. Language development can be particularly impacted by social factors-as seen in the developmental choices made for deaf children, which can create language deprivation. A possible mental health syndrome may be present in deaf patients with severe language deprivation. METHODS: Electronic databases were searched to identify publications focusing on language development and mental health in the deaf population...
February 16, 2017: Social Psychiatry and Psychiatric Epidemiology
https://www.readbyqxmd.com/read/28203249/autism-spectrum-disorder-detection-from-semi-structured-and-unstructured-medical-data
#15
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/28174606/lateralization-of-erps-to-speech-and-handedness-in-the-early-development-of-autism-spectrum-disorder
#16
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
#17
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/28167313/prosociality-from-early-adolescence-to-young-adulthood-a-longitudinal-study-of-individuals-with-a-history-of-language-impairment
#18
Umar Toseeb, Andrew Pickles, Kevin Durkin, Nicola Botting, Gina Conti-Ramsden
BACKGROUND: Longitudinal research into the development of prosociality contributes vitally to understanding of individual differences in psychosocial outcomes. Most of the research to date has been concerned with prosocial behaviour in typically developing young people; much less has been directed to the course of development in individuals with developmental disorders. AIMS: This study reports a longitudinal investigation of prosocial behaviour in young people with language impairment (LI), and compares trajectories of development to typically developing age-matched peers (AMPs)...
March 2017: Research in Developmental Disabilities
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
#19
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
https://www.readbyqxmd.com/read/28148286/fifteen-year-follow-up-of-italian-families-affected-by-arginine-glycine-amidinotransferase-deficiency
#20
Roberta Battini, M Grazia Alessandrì, Claudia Casalini, Manuela Casarano, Michela Tosetti, Giovanni Cioni
BACKGROUND: Arginine:glycine amidinotransferase deficiency (AGAT-d) is a very rare inborn error of creatine synthesis mainly characterized by absence of brain Creatine (Cr) peak, intellectual disability, severe language impairment and behavioural disorder and susceptible to supplementary Cr treatment per os. Serial examinations by magnetic resonance spectroscopy are required to evaluate Cr recovery in brain during treatment of high doses of Cr per os, which have been proved beneficial and effective in treating main clinical symptoms...
February 2, 2017: Orphanet Journal of Rare Diseases
keyword
keyword
65928
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"