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https://www.readbyqxmd.com/read/28421695/evaluation-of-an-interview-skills-training-package-for-adolescents-with-speech-language-and-communication-needs
#1
Rachel Mathrick, Tina Meagher, Courtenay Frazier Norbury
BACKGROUND & AIMS: We evaluated a structured intervention programme aimed at preparing adolescents with developmental language disorders for job interviews. Our primary outcome measures included change in ratings of verbal and non-verbal social communication behaviours evident during mock interviews. METHODS & PROCEDURES: In study 1, 12 participants, aged 17-19 years, from a specialist sixth-form college completed the intervention and two mock interviews, one pre- and one post-intervention...
April 18, 2017: International Journal of Language & Communication Disorders
https://www.readbyqxmd.com/read/28408725/screening-for-developmental-delay-in-preschool-aged-children-using-parent-completed-ages-and-stages-questionnaires-additional-insights-into-child-development
#2
Soheir S Abo El Elella, Maha A M Tawfik, Wafaa Moustafa M Abo El Fotoh, Naglaa Fathy Barseem
BACKGROUND: Developmental delay is a delay in areas of speech, language, motor, social and cognitive development. Because of the negative impact of intellectual and learning disabilities, early identification of children with developmental and behavioral problems using appropriate screening tests is crucial. OBJECTIVES: Utilization of parent-completed Ages and Stages Questionnaires (ASQs) for detecting the developmental delay in preschool age children and clarification of possible associated risk factors...
April 13, 2017: Postgraduate Medical Journal
https://www.readbyqxmd.com/read/28406248/sensory-defects-and-developmental-delay-among-children-with-congenital-rubella-syndrome
#3
Michiko Toizumi, Giang Thi Huong Nguyen, Hideki Motomura, Thanh Huu Nguyen, Enga Pham, Ken-Ichi Kaneko, Masafumi Uematsu, Hien Anh Thi Nguyen, Duc Anh Dang, Masahiro Hashizume, Lay-Myint Yoshida, Hiroyuki Moriuchi
This study investigated the features of developmental difficulties combined with sensory defects in children with congenital rubella syndrome (CRS). Following a large rubella outbreak in Khanh Hoa Province, Vietnam, in 2011, we enrolled 41 children with CRS from September 2011 through May 2013. Fourteen participants died and six became untraceable by October 2013; the remaining 21 children were followed up from 2013 to 2015. Thirteen and seven participants had hearing and functional ophthalmological impairment, respectively...
April 13, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28393740/precursors-to-language-development-in-typically-and-atypically-developing-infants-and-toddlers-the-importance-of-embracing-complexity
#4
Dean D'Souza, Hana D'Souza, Annette Karmiloff-Smith
In order to understand how language abilities emerge in typically and atypically developing infants and toddlers, it is important to embrace complexity in development. In this paper, we describe evidence that early language development is an experience-dependent process, shaped by diverse, interconnected, interdependent developmental mechanisms, processes, and abilities (e.g. statistical learning, sampling, functional specialization, visual attention, social interaction, motor ability). We also present evidence from our studies on neurodevelopmental disorders (e...
April 10, 2017: Journal of Child Language
https://www.readbyqxmd.com/read/28387067/clinical-and-genetic-aspects-of-the-15q11-2-bp1-bp2-microdeletion-disorder
#5
M G Butler
BACKGROUND: The 15q11.2 BP1-BP2 microdeletion (Burnside-Butler susceptibility locus) is an emerging condition with over 200 individuals reported in the literature. TUBGCP5, CFYIP1, NIPA1 and NIPA2 genes are located in this chromosome 15 region and when disturbed individually are known to cause neurological, cognitive or behavioural problems as well as playing a role in both Prader-Willi and Angelman syndromes. These syndromes were the first examples in humans of genomic imprinting and typically caused by a deletion but involving the distal chromosome 15q11-q13 breakpoint BP3 and proximally placed breakpoints BP1 or BP2 of different parental origin...
April 7, 2017: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/28384664/vocalization-rate-and-consonant-production-in-toddlers-at-high-and-low-risk-for-autism
#6
Karen Chenausky, Charles Nelson, Helen Tager-Flusberg
Background: Previous work has documented lower vocalization rate and consonant acquisition delays in toddlers with autism spectrum disorder (ASD). We investigated differences in these variables at 12, 18, and 24 months in toddlers at high and low risk for ASD. Method: Vocalization rate and number of different consonants were obtained from speech samples from a prospective study of infant siblings of children with ASD. Three groups were compared: 18 toddlers at low risk for ASD (low-risk control), 18 high-risk siblings without ASD (HRA-), and 10 high-risk siblings with ASD (HRA+)...
April 3, 2017: Journal of Speech, Language, and Hearing Research: JSLHR
https://www.readbyqxmd.com/read/28376857/receptive-and-expressive-english-language-assessments-used-for-young-children-a-scoping-review-protocol
#7
Laureen J McIntyre, Laurie-Ann M Hellsten, Julia Bidonde, Catherine Boden, Carolyn Doi
BACKGROUND: The majority of a child's language development occurs in the first 5 years of life when brain development is most rapid. There are significant long-term benefits to supporting all children's language and literacy development such as maximizing their developmental potential (i.e., cognitive, linguistic, social-emotional), when children are experiencing a critical period of development (i.e., early childhood to 9 years of age). A variety of people play a significant role in supporting children's language development, including parents, guardians, family members, educators, and/or speech-language pathologists...
April 4, 2017: Systematic Reviews
https://www.readbyqxmd.com/read/28374573/agreement-between-concern-about-autism-spectrum-disorder-at-the-time-of-referral-and-diagnosis-and-factors-associated-with-agreement
#8
Bee H Lo, Felicity Klopper, Elizabeth H Barnes, Katrina Williams
AIM: This study examined the level of agreement between referral reason and diagnostic outcome for pre-school aged children showing developmental delays and differences. In particular, the level of agreement when there was concern about autism spectrum disorder (ASD) was investigated. METHODS: Clinical records for children (n = 677) assessed for developmental concerns at a multidisciplinary assessment clinic in Sydney, Australia, were examined. Referral reason and diagnostic outcome were compared...
April 4, 2017: Journal of Paediatrics and Child Health
https://www.readbyqxmd.com/read/28369935/phase-2-of-catalise-a-multinational-and-multidisciplinary-delphi-consensus-study-of-problems-with-language-development-terminology
#9
Dorothy V M Bishop, Margaret J Snowling, Paul A Thompson, Trisha Greenhalgh
BACKGROUND: Lack of agreement about criteria and terminology for children's language problems affects access to services as well as hindering research and practice. We report the second phase of a study using an online Delphi method to address these issues. In the first phase, we focused on criteria for language disorder. Here we consider terminology. METHODS: The Delphi method is an iterative process in which an initial set of statements is rated by a panel of experts, who then have the opportunity to view anonymised ratings from other panel members...
March 30, 2017: Journal of Child Psychology and Psychiatry, and Allied Disciplines
https://www.readbyqxmd.com/read/28348195/impact-of-the-early-start-denver-model-on-the-cognitive-level-of-children-with-autism-spectrum-disorder-study-protocol-for-a-randomised-controlled-trial-using-a-two-stage-zelen-design
#10
Sandrine Touzet, Pauline Occelli, Carmen Schröder, Sabine Manificat, Ludovic Gicquel, Razvana Stanciu, Marie Schaer, Marie-Joelle Oreve, Mario Speranza, Angelique Denis, Amelie Zelmar, Bruno Falissard, Nicolas Georgieff, Stephane Bahrami, Marie-Maude Geoffray
INTRODUCTION: Early intervention for autism spectrum disorder (ASD) in the European French-speaking countries is heterogeneous and poorly evaluated to date. Early intervention units applying the Early Start Denver Model (ESDM) for toddlers and young children with ASD have been created in France and Belgium to improve this situation. It is essential to evaluate this intervention for the political decision-making process regarding ASD interventions in European French-speaking countries...
March 27, 2017: BMJ Open
https://www.readbyqxmd.com/read/28334953/early-motor-phenotype-detection-in-a-female-mouse-model-of-rett-syndrome-is-improved-by-cross-fostering
#11
Annie Vogel Ciernia, Michael Pride, Blythe Durbin-Johnson, Adriana Noronha, Alene Chang, Dag H Yasui, Jacqueline N Crawley, Janine M LaSalle
Rett syndrome (RTT) is an X-linked neurodevelopmental disorder caused by mutations in the gene encoding methyl CpG binding protein 2 (MeCP2) that occur sporadically in 1:10,000 female births. RTT is characterized by a period of largely normal development followed by regression in language and motor skills at 6-18 months of age. Mecp2 mutant mice recapitulate many of the clinical features of RTT, but the majority of behavioral assessments have been conducted in male Mecp2 hemizygous null mice as offspring of heterozygous dams...
March 11, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28323454/interaction-behaviors-of-bilingual-parents-with-their-young-children-with-autism-spectrum-disorder
#12
Kristelle Hudry, Lisa Rumney, Nicole Pitt, Josephine Barbaro, Giacomo Vivanti
Given concerns that bilingual exposure might confuse children with disabilities-including autism spectrum disorder (ASD)-bilingual parents may restrict exposure to one language, often the community-dominant language. We investigated a potential consequence of this decision; the possibility that non-native language use might influence parental communicative behaviors during interaction with the child. We recruited 39 parent-child dyads, each with a young child with ASD (mostly boys) and parent/carer (mostly mothers)...
March 21, 2017: Journal of Clinical Child and Adolescent Psychology
https://www.readbyqxmd.com/read/28296084/de-novo-loss-of-function-variants-in-stag2-are-associated-with-developmental-delay-microcephaly-and-congenital-anomalies
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
Manuel E Jimenez, Emmanuel Martinez 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...
April 2017: Journal of Developmental and Behavioral Pediatrics: JDBP
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