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developmental language disorder

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https://www.readbyqxmd.com/read/28803755/communicating-complex-genomic-information-a-counselling-approach-derived-from-research-experience-with-autism-spectrum-disorder
#1
Ny Hoang, Cheryl Cytrynbaum, Stephen W Scherer
Individuals with Autism Spectrum Disorder (ASD) share characteristics (impairments in socialization and communication, and repetitive interests and behaviour), but differ in their developmental course, pattern of symptoms, and cognitive and language abilities. The development of standardized phenotyping has revealed ASD to clinically be vastly heterogeneous, ranging from milder presentations to more severe forms associated with profound intellectual disability. Some 100 genes have now been implicated in the etiology of ASD, and advances in genome-wide testing continue to yield new data at an unprecedented rate...
July 29, 2017: Patient Education and Counseling
https://www.readbyqxmd.com/read/28803559/rethinking-the-idea-of-late-autism-spectrum-disorder-onset
#2
Elizabeth C Bacon, Eric Courchesne, Cynthia Carter Barnes, Debra Cha, Sunny Pence, Laura Schreibman, Aubyn C Stahmer, Karen Pierce
A common theory of autism spectrum disorder (ASD) symptom onset includes toddlers who do not display symptoms until well after age 2, which are termed late-onset ASD cases. Objectives were to analyze differences in clinical phenotype between toddlers identified as ASD at initial evaluations (early diagnosed) versus those initially considered nonspectrum, then later identified as ASD (late diagnosed). Two hundred seventy-three toddlers recruited from the general population based on a failed developmental screening form or parent or physician concerns were followed longitudinally from 12 months and identified as early- and late-diagnosed cases of ASD, language delayed, or typically developing...
August 14, 2017: Development and Psychopathology
https://www.readbyqxmd.com/read/28802365/exploring-reasons-for-late-identification-of-children-with-early-onset-hearing-loss
#3
Elizabeth M Fitzpatrick, Johnny Cesconetto Dos Santos, Viviane Grandpierre, JoAnne Whittingham
INTRODUCTION: Several studies have shown that early identification of childhood hearing loss leads to better language outcomes. However, delays in the confirmation of hearing loss persist even in the presence of well-established universal newborn hearing screening programs (UNHS). The objective of this population-based study was to document the proportion of children who experienced delayed confirmation of congenital and early onset hearing loss in a UNHS program in one region of Canada...
September 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28796874/do-the-hard-things-first-a-randomized-controlled-trial-testing-the-effects-of-exemplar-selection-on-generalization-following-therapy-for-grammatical-morphology
#4
Amanda Jean Owen Van Horne, Marc Fey, Maura Curran
Purpose: Complexity-based approaches to treatment have been gaining popularity in domains such as phonology and aphasia but have not yet been tested in child morphological acquisition. In this study, we examined whether beginning treatment with easier-to-inflect (easy first) or harder-to-inflect (hard first) verbs led to greater progress in the production of regular past-tense -ed by children with developmental language disorder. Method: Eighteen children with developmental language disorder (ages 4-10) participated in a randomized controlled trial (easy first, N = 10, hard first, N = 8)...
August 10, 2017: Journal of Speech, Language, and Hearing Research: JSLHR
https://www.readbyqxmd.com/read/28781152/speech-and-language-translating-the-genome
#5
REVIEW
Pelagia Deriziotis, Simon E Fisher
Investigation of the biological basis of human speech and language is being transformed by developments in molecular technologies, including high-throughput genotyping and next-generation sequencing of whole genomes. These advances are shedding new light on the genetic architecture underlying language-related disorders (speech apraxia, specific language impairment, developmental dyslexia) as well as that contributing to variation in relevant skills in the general population. We discuss how state-of-the-art methods are uncovering a range of genetic mechanisms, from rare mutations of large effect to common polymorphisms that increase risk in a subtle way, while converging on neurogenetic pathways that are shared between distinct disorders...
August 3, 2017: Trends in Genetics: TIG
https://www.readbyqxmd.com/read/28774669/neurodevelopmental-disorders-in-children-with-macrocephaly-a-prevalence-study-and-pten-gene-analysis
#6
Hirofumi Kurata, Kentaro Shirai, Yoshiaki Saito, Tetsuya Okazaki, Koyo Ohno, Masayoshi Oguri, Kaori Adachi, Eiji Nanba, Yoshihiro Maegaki
PURPOSE: To clarify the relationship between macrocephaly and neurodevelopmental disorders, as well as identify the prevalence of PTEN mutations in autism spectrum disorders with macrocephaly in Japan. SUBJECTS AND METHODS: Diagnostic and other medical information of children with macrocephaly younger than 4years (n=93) were collected for analysis. PTEN gene mutation analysis was conducted in another set of 16 macrocephalic individuals aged 3-22years. RESULTS: Sixteen macrocephalic children were associated with neurodevelopmental disorders, including autism spectrum disorders (ASDs) (n=6), autistic traits (n=5), intellectual disability (n=5), attention deficit hyperactivity disorder (n=1), developmental coordination disorders (n=1), and language disorder (n=1)...
July 31, 2017: Brain & Development
https://www.readbyqxmd.com/read/28767196/two-unrelated-children-with-overlapping-6q25-3-deletions-motor-speech-disorders-and-language-delays
#7
Beate Peter, Hope Lancaster, Caitlin Vose, Amna Fares, Isabelle Schrauwen, Matthew Huentelman
Interstitial and terminal 6q25 deletions are associated with developmental delays, hypotonia, eye pathologies, craniofacial dysmorphologies, and structural brain anomalies. In most cases, speech and language deficits are not described in detail. We report on a case (Patient 1, age 7 years) with a de novo 6q25.3-qter deletion, 11.1 Mb long and encompassing 108 genes, and a case (Patient 2, age 5 years) with an inherited interstitial 6q25.3 deletion, located within Patient 1's deletion region and 403 kb long, the smallest 6q25 deletion reported to date...
August 2, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28758966/variability-of-creatine-metabolism-genes-in-children-with-autism-spectrum-disorder
#8
Jessie M Cameron, Valeriy Levandovskiy, Wendy Roberts, Evdokia Anagnostou, Stephen Scherer, Alvin Loh, Andreas Schulze
Creatine deficiency syndrome (CDS) comprises three separate enzyme deficiencies with overlapping clinical presentations: arginine:glycine amidinotransferase (GATM gene, glycine amidinotransferase), guanidinoacetate methyltransferase (GAMT gene), and creatine transporter deficiency (SLC6A8 gene, solute carrier family 6 member 8). CDS presents with developmental delays/regression, intellectual disability, speech and language impairment, autistic behaviour, epileptic seizures, treatment-refractory epilepsy, and extrapyramidal movement disorders; symptoms that are also evident in children with autism...
July 31, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28748594/spanish-validation-of-the-pas-add-checklist-questionnaire-for-people-with-intellectual-disabilities-for-spanish-population
#9
A Martorell, M C González, P Gutiérrez, F Rincón, M H Núñez-Polo
BACKGROUND: The Psychiatric Assessment Schedule for Adult with Developmental Disability (PAS-ADD) is an international reference tool for the diagnosis and assessment of mental health problems and behavioural disorders among people with intellectual disabilities. Although the original PAS-ADD instrument has been validated in the Spanish language, the shorter PAS-ADD Checklist has yet not been validated. The aim of this study is to validate the PAS-ADD Checklist for the Spanish population...
July 26, 2017: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/28747870/neural-entrainment-and-sensorimotor-synchronization-to-the-beat-in-children-with-developmental-dyslexia-an-eeg-study
#10
Lincoln J Colling, Hannah L Noble, Usha Goswami
Tapping in time to a metronome beat (hereafter beat synchronization) shows considerable variability in child populations, and individual differences in beat synchronization are reliably related to reading development. Children with developmental dyslexia show impairments in beat synchronization. These impairments may reflect deficiencies in auditory perception of the beat which in turn affect auditory-motor mapping, or may reflect an independent motor deficit. Here, we used a new methodology in EEG based on measuring beat-related steady-state evoked potentials (SS-EPs, Nozaradan et al...
2017: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/28741757/equivalent-missense-variant-in-the-foxp2-and-foxp1-transcription-factors-causes-distinct-neurodevelopmental-disorders
#11
Elliot Sollis, Pelagia Deriziotis, Hirotomo Saitsu, Noriko Miyake, Naomichi Matsumoto, Mariëtte J V Hoffer, Claudia A L Ruivenkamp, Mariëlle Alders, Nobuhiko Okamoto, Emilia K Bijlsma, Astrid S Plomp, Simon E Fisher
The closely related paralogues FOXP2 and FOXP1 encode transcription factors with shared functions in the development of many tissues, including the brain. However, while mutations in FOXP2 lead to a speech/language disorder characterized by childhood apraxia of speech (CAS), the clinical profile of FOXP1 variants includes a broader neurodevelopmental phenotype with global developmental delay, intellectual disability, and speech/language impairment. Using clinical whole-exome sequencing, we report an identical de novo missense FOXP1 variant identified in three unrelated patients...
July 25, 2017: Human Mutation
https://www.readbyqxmd.com/read/28741680/evaluating-social-pragmatic-communication-disorder
#12
William Mandy, Adele Wang, Irene Lee, David Skuse
BACKGROUND: Social (pragmatic) communication disorder (SPCD) is a new diagnosis introduced by DSM-5, characterised by problems with verbal and nonverbal social communication. It is currently unclear whether SPCD is a valid diagnostic category, because little is known about the characteristics of those who meet its criteria. We sought to identify and describe cases of SPCD, to contribute to debates about its validity. We investigated whether the symptoms of SPCD cluster together to form a coherent syndrome that is distinct from autism spectrum disorder (ASD) in terms of its core and associated features...
July 25, 2017: Journal of Child Psychology and Psychiatry, and Allied Disciplines
https://www.readbyqxmd.com/read/28736116/central-nervous-system-anomalies-in-craniofacial-microsomia-a-systematic-review
#13
REVIEW
R W Renkema, C J J M Caron, E B Wolvius, D J Dunaway, C R Forrest, B L Padwa, M J Koudstaal
Extracraniofacial anomalies, including central nervous system (CNS) anomalies, may occur in craniofacial microsomia (CFM). This systematic review was performed to provide an overview of the literature on the prevalence and types of CNS anomalies and developmental disorders in CFM, in order to improve the recognition and possible treatment of these anomalies. A systematic search was conducted and data on the number of patients, patient characteristics, type and prevalence of CNS anomalies or developmental delay, and correlations between CFM and CNS anomalies were extracted...
July 20, 2017: International Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28729533/common-brain-structure-findings-across-children-with-varied-reading-disability-profiles
#14
Mark A Eckert, Kenneth I Vaden, Amanda B Maxwell, Stephanie L Cute, Mulugeta Gebregziabher, Virginia W Berninger
Dyslexia is a developmental disorder in reading that exhibits varied patterns of expression across children. Here we examined the degree to which different kinds of reading disabilities (defined as profiles or patterns of reading problems) contribute to brain morphology results in Jacobian determinant images that represent local brain shape and volume. A matched-pair brain morphometry approach was used to control for confounding from brain size and research site effects in this retrospective multi-site study of 134 children from eight different research sites...
July 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28729328/comparative-safety-of-antiepileptic-drugs-for-neurological-development-in-children-exposed-during-pregnancy-and-breast-feeding-a-systematic-review-and-network-meta-analysis
#15
Areti Angeliki Veroniki, Patricia Rios, Elise Cogo, Sharon E Straus, Yaron Finkelstein, Ryan Kealey, Emily Reynen, Charlene Soobiah, Kednapa Thavorn, Brian Hutton, Brenda R Hemmelgarn, Fatemeh Yazdi, Jennifer D'Souza, Heather MacDonald, Andrea C Tricco
OBJECTIVES: Compare the safety of antiepileptic drugs (AEDs) on neurodevelopment of infants/children exposed in utero or during breast feeding. DESIGN AND SETTING: Systematic review and Bayesian random-effects network meta-analysis (NMA). MEDLINE, EMBASE and the Cochrane Central Register of Controlled Trials were searched until 27 April 2017. Screening, data abstraction and quality appraisal were completed in duplicate by independent reviewers. PARTICIPANTS: 29 cohort studies including 5100 infants/children...
July 20, 2017: BMJ Open
https://www.readbyqxmd.com/read/28714100/why-is-it-so-hard-to-reach-agreement-on-terminology-the-case-of-developmental-language-disorder-dld
#16
Dorothy V M Bishop
A recent project entitled CATALISE used the Delphi method to reach a consensus on terminology for unexplained language problems in children. 'Developmental language disorder' (DLD) was the term agreed by a panel of 57 experts. Here I reflect on points of difficulty that arose when attempting to reach a consensus, using qualitative information from comments made by panel members to illustrate the kinds of argument used. One issue of debate was the use of labels, in particular the term 'disorder', which was seen as having both pros and cons...
July 17, 2017: International Journal of Language & Communication Disorders
https://www.readbyqxmd.com/read/28710941/procedural-learning-in-parkinson-s-disease-specific-language-impairment-dyslexia-schizophrenia-developmental-coordination-disorder-and-autism-spectrum-disorders-a-second-order-meta-analysis
#17
Gillian M Clark, Jarrad A G Lum
The serial reaction time task (SRTT) has been used to study procedural learning in clinical populations. In this report, second-order meta-analysis was used to investigate whether disorder type moderates performance on the SRTT. Using this approach to quantitatively summarise past research, it was tested whether autism spectrum disorder, developmental coordination disorder, dyslexia, Parkinson's disease, schizophrenia, and specific language impairment differentially affect procedural learning on the SRTT. The main analysis revealed disorder type moderated SRTT performance (p=0...
October 2017: Brain and Cognition
https://www.readbyqxmd.com/read/28709078/insomnia-in-people-with-epilepsy-a-review-of-insomnia-prevalence-risk-factors-and-associations-with-epilepsy-related-factors
#18
REVIEW
Philippe Joaquim Oliveira Menezes Macêdo, Pedro Sudbrack de Oliveira, Nancy Foldvary-Schaefer, Marleide da Mota Gomes
BACKGROUND: Insomnia is a common sleep complaint in the general population, and sleep loss may be a trigger for epileptic seizures. OBJECTIVES: To conduct a comprehensive review of the literature of insomnia symptoms and insomnia disorder, their prevalence and epilepsy-related risk factors in people with epilepsy (PWE). METHODS: A PUBMED search was performed for articles indexed to June 2016 involving human subjects, excluding papers in languages other than English, Spanish and Portuguese and case reports...
June 3, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/28704379/fractionating-nonword-repetition-the-contributions-of-short-term-memory-and-oromotor-praxis-are-different
#19
Saloni Krishnan, Katherine J Alcock, Daniel Carey, Lina Bergström, Annette Karmiloff-Smith, Frederic Dick
The ability to reproduce novel words is a sensitive marker of language impairment across a variety of developmental disorders. Nonword repetition tasks are thought to reflect phonological short-term memory skills. Yet, when children hear and then utter a word for the first time, they must transform a novel speech signal into a series of coordinated, precisely timed oral movements. Little is known about how children's oromotor speed, planning and co-ordination abilities might influence their ability to repeat novel nonwords, beyond the influence of higher-level cognitive and linguistic skills...
2017: PloS One
https://www.readbyqxmd.com/read/28691782/a-novel-microduplication-of-arid1b-clinical-genetic-and-proteomic-findings
#20
Catarina M Seabra, Nicholas Szoko, Serkan Erdin, Ashok Ragavendran, Alexei Stortchevoi, Patrícia Maciel, Kathleen Lundberg, Daniela Schlatzer, Janice Smith, Michael E Talkowski, James F Gusella, Marvin R Natowicz
Genetic alterations of ARID1B have been recently recognized as one of the most common mendelian causes of intellectual disability and are associated with both syndromic and non-syndromic phenotypes. The ARID1B protein, a subunit of the chromatin remodeling complex SWI/SNF-A, is involved in the regulation of transcription and multiple downstream cellular processes. We report here the clinical, genetic, and proteomic phenotypes of an individual with a unique apparent de novo mutation of ARID1B due to an intragenic duplication...
September 2017: American Journal of Medical Genetics. Part A
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