keyword
https://read.qxmd.com/read/38491094/the-neuroanatomy-of-developmental-language-disorder-a-systematic-review-and-meta-analysis
#21
JOURNAL ARTICLE
Michael T Ullman, Gillian M Clark, Mariel Y Pullman, Jarrett T Lovelett, Elizabeth I Pierpont, Xiong Jiang, Peter E Turkeltaub
Developmental language disorder (DLD) is a common neurodevelopmental disorder with adverse impacts that continue into adulthood. However, its neural bases remain unclear. Here we address this gap by systematically identifying and quantitatively synthesizing neuroanatomical studies of DLD using co-localization likelihood estimation, a recently developed neuroanatomical meta-analytic technique. Analyses of structural brain data (22 peer-reviewed papers, 577 participants) revealed highly consistent anomalies only in the basal ganglia (100% of participant groups in which this structure was examined, weighted by group sample sizes; 99...
March 15, 2024: Nature Human Behaviour
https://read.qxmd.com/read/38484631/comparison-of-neurodevelopmental-educational-and-adult-socioeconomic-outcomes-in-offspring-of-women-with-and-without-epilepsy-a-systematic-review-and-meta-analysis
#22
JOURNAL ARTICLE
Paolo Pierino Mazzone, Kirsty Mhairi Hogg, Christopher J Weir, Jacqueline Stephen, Sohinee Bhattacharya, Simone Richer, Richard F M Chin
BACKGROUND: Adequate pre-pregnancy counselling and education planning are essential to improve outcomes for offspring of women with epilepsy (OWWE). The current systematic review and meta-analysis aimed to compare outcomes for OWWE and offspring of women without epilepsy (OWWoE). METHODS: We conducted a systematic review and meta-analysis. We searched MEDLINE, EMBASE, CINAHL, PsycINFO (database inception-1st January 2023), OpenGrey, GoogleScholar, and hand-searched journals and reference lists of included studies to identify eligible studies...
February 29, 2024: Seizure: the Journal of the British Epilepsy Association
https://read.qxmd.com/read/38479041/factors-associated-with-sleep-disturbances-in-children-and-adolescents-with-angelman-syndrome
#23
JOURNAL ARTICLE
Geraldine Leader, Chloe Killeen, Sally Whelan, Rory Coyne, Megan Tones, Arlene Mannion
BACKGROUND: Angelman Syndrome (AS) is a rare genetic disorder characterised by hyperactivity, overexcitability, developmental delays, and lack of speech. METHODS: This study used secondary data analysis to investigate sleep disturbances in children and adolescents (n = 212) who are enrolled in the Global Angelman Syndrome Registry. Participants were divided into two groups based on the presence or absence of sleep disturbance. The cut-off score of 40 on the Sleep Disturbance Scale for Children was used to indicate the presence or absence of sleep disturbances...
March 7, 2024: Sleep Medicine
https://read.qxmd.com/read/38462617/neurobehavioral-and-developmental-profiles-genotype-phenotype-correlations-in-individuals-with-cornelia-de-lange-syndrome
#24
JOURNAL ARTICLE
Rowena Ng, Julia O'Connor, Deirdre Summa, Antonie D Kline
BACKGROUND: Cornelia de Lange (CdLS) is a rare genetic disorder that affects most body systems. Variants in multiple genes including NIPBL and SMC1A, can cause the syndrome. To date, literature on genotype-phenotype associations in individuals with CdLS is extremely limited, although studies suggest some differences in clinical phenotype severity across variants. This study aimed to examine and compare neurobehavioral differences and developmental variability across CdLS genes, specifically NIPBL and SMC1A, and identify genotype-phenotype correlations...
March 10, 2024: Orphanet Journal of Rare Diseases
https://read.qxmd.com/read/38459409/foxg1-variants-can-be-associated-with-milder-phenotypes-than-congenital-rett-syndrome-with-unassisted-walking-and-language-development
#25
JOURNAL ARTICLE
Benoit Mazel, Julian Delanne, Aurore Garde, Caroline Racine, Ange-Line Bruel, Yannis Duffourd, Diego Lopergolo, Filippo Maria Santorelli, Viviana Marchi, Anna Maria Pinto, Maria Antonietta Mencarelli, Roberto Canitano, Floriana Valentino, Filomena Tiziana Papa, Chiara Fallerini, Francesca Mari, Alessandra Renieri, Arnold Munnich, Tanguy Niclass, Gwenaël Le Guyader, Christel Thauvin-Robinet, Christophe Philippe, Laurence Faivre
Since 2008, FOXG1 haploinsufficiency has been linked to a severe neurodevelopmental phenotype resembling Rett syndrome but with earlier onset. Most patients are unable to sit, walk, or speak. For years, FOXG1 sequencing was only prescribed in such severe cases, limiting insight into the full clinical spectrum associated with this gene. Next-generation sequencing (NGS) now enables unbiased diagnostics. Through the European Reference Network for Rare Malformation Syndromes, Intellectual and Other Neurodevelopmental Disorders, we gathered data from patients with heterozygous FOXG1 variants presenting a mild phenotype, defined as able to speak and walk independently...
March 8, 2024: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://read.qxmd.com/read/38457668/efficacy-of-the-teaching-early-literacy-and-language-curriculum-with-preschoolers-from-low-income-families
#26
JOURNAL ARTICLE
Shelley I Gray, M Jeanne Wilcox, Mark Reiser
PURPOSE: The purpose of this study was to test the efficacy of the Teaching Early Literacy and Language (TELL) curriculum package for improving the early literacy and oral language skills of preschoolers from low-income families. METHOD: In a randomized controlled trial (RCT), TELL was implemented in 30 TELL and 28 business-as-usual classrooms. TELL is a Tier 1 whole-class curriculum package that includes a scope and sequence of instruction, lesson plans and materials, high-quality books, curriculum-based measures (CBMs), and professional development training and coaching...
March 8, 2024: Language, Speech, and Hearing Services in Schools
https://read.qxmd.com/read/38456936/clinical-and-genetic-architecture-of-a-large-cohort-with-auditory-neuropathy
#27
JOURNAL ARTICLE
Hongyang Wang, Liping Guan, Xiaonan Wu, Jing Guan, Jin Li, Nan Li, Kaili Wu, Ya Gao, Dan Bing, Jianguo Zhang, Lan Lan, Tao Shi, Danyang Li, Wenjia Wang, Linyi Xie, Fen Xiong, Wei Shi, Lijian Zhao, Dayong Wang, Ye Yin, Qiuju Wang
Auditory neuropathy (AN) is a unique type of language developmental disorder, with no precise rate of genetic contribution that has been deciphered in a large cohort. In a retrospective cohort of 311 patients with AN, pathogenic and likely pathogenic variants of 23 genes were identified in 98 patients (31.5% in 311 patients), and 14 genes were mutated in two or more patients. Among subgroups of patients with AN, the prevalence of pathogenic and likely pathogenic variants was 54.4% and 56.2% in trios and families, while 22...
March 8, 2024: Human Genetics
https://read.qxmd.com/read/38456140/language-development-reading-and-word-learning-in-autism-spectrum-disorder-asd-a-review-on-eye-tracking-studies
#28
REVIEW
Georgia Andreou, Katerina Raxioni
Objectives: The purpose of this article is to review research that has been conducted over the past five years on language development, reading skills and word learning with the use of the eye tracking machine as regards the population with autism spectrum disorder (ASD) in comparison to typically developed population. Materials and methods: A combination of relevant terms from Google Scholar, Research Gate and PsychINFO databases was used and as a result 24 studies emerged. The total number of studies that met the inclusion criteria was 21...
2024: International Journal of Developmental Disabilities
https://read.qxmd.com/read/38451710/morphological-complexity-in-writing-implications-for-writing-quality-and-patterns-of-change
#29
JOURNAL ARTICLE
Carla Wood, Miguel Garcia-Salas, Christopher Schatschneider, Michelle Torres-Chavarro
PURPOSE: The current study examined (a) the relation between morphologically complex word (MCW) use (words containing at least one derivational morpheme such as prefixes and suffixes) and teachers' ratings of writing quality, (b) average change in MCW use in writing across the school year, and (c) differential change in MCW among students with varying language abilities and linguistic backgrounds including students with developmental language disorders (DLDs) and multilingual learners (MLs)...
March 7, 2024: American Journal of Speech-language Pathology
https://read.qxmd.com/read/38450883/providing-quality-care-for-people-with-cdkl5-deficiency-disorder-a-european-expert-panel-opinion-on-the-patient-journey
#30
REVIEW
Sam Amin, Rikke S Møller, Angel Aledo-Serrano, Alexis Arzimanoglou, Patrick Bager, Sergiusz Jóźwiak, Gerhard Josef Kluger, Sandra López-Cabeza, Rima Nabbout, Carol-Anne Partridge, Susanne Schubert-Bast, Nicola Specchio, Reetta Kälviäinen
Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) is a developmental and epileptic encephalopathy caused by variants in the CDKL5 gene. The disorder is characterized by intractable early-onset seizures, severe neurodevelopmental delay, hypotonia, motor disabilities, cerebral (cortical) visual impairment and microcephaly. With no disease-modifying therapies available for CDD, treatment is symptomatic with an initial focus on seizure control. Another unmet need in the management of people with CDD is the lack of evidence to aid standardized care and guideline development...
March 7, 2024: Epilepsia Open
https://read.qxmd.com/read/38448613/altered-intra-and-inter-network-brain-functional-connectivity-associated-with-prolonged-screen-time-in-pre-school-children-with-autism-spectrum-disorder
#31
JOURNAL ARTICLE
Yang Xue, Miao-Shui Bai, Han-Yu Dong, Tian-Tian Wang, Zakaria Ahmed Mohamed, Fei-Yong Jia
Prolonged screen time (ST) has adverse effects on autistic characteristics and language development. However, the mechanisms underlying the effects of prolonged ST on the neurodevelopment of children with autism spectrum disorder (ASD) remain unclear. Neuroimaging technology may help to further explain the role of prolonged ST in individuals with ASD. This study included 164 cases, all cases were divided into low-dose ST exposure (LDE group 108 cases) and high-dose ST exposure (HDE group 56 cases) based on the average ST of all subjects...
March 7, 2024: European Journal of Pediatrics
https://read.qxmd.com/read/38447279/sleep-duration-trajectories-and-cognition-in-early-childhood-a-systematic-review
#32
REVIEW
Elaine Kh Tham, Nur K Jafar, Celeste Tr Koh, Daniel Yt Goh, Birit Fp Broekman, Shirong Cai
Sleep is dynamic in childhood and studies have shown the relationship between sleep and cognition in children. As the human brain is the most plastic during childhood, the study of longitudinal sleep patterns and neurocognition is an important research area. We aimed to systematically review studies that investigated sleep duration trajectories and cognition in typically-developing children. We searched four databases for articles published between 2003 to October 2023. We included observation studies of children with sleep duration trajectories as a predictor and outcomes related to cognition, memory, language, developmental milestones, intelligence or executive function...
February 24, 2024: Sleep Medicine Reviews
https://read.qxmd.com/read/38446909/exploring-the-views-perspectives-and-current-practices-of-educational-speech-language-pathologists-and-psychologists-in-canada-how-childhood-developmental-language-disorders-are-identified-and-diagnosed
#33
JOURNAL ARTICLE
Lisa M D Archibald, Cassandra Kuyvenhoven
PURPOSE: Across Canada, speech-language pathologists (SLPs) and educational psychologists (EPs) work in schools to identify and diagnose childhood learning difficulties, including language disorders; however, both professional groups use different terms to identify and diagnose them. Using the term developmental language disorder (DLD), developed by the CATALISE consortium, would provide consistency across fields. To effectively implement the use of DLD, it is crucial to understand how EPs and SLPs currently identify childhood language disorders and to investigate the potential impact of a practice change in this area...
March 6, 2024: American Journal of Speech-language Pathology
https://read.qxmd.com/read/38444259/okur-chung-neurodevelopmental-syndrome-implications-for-phenotype-and-genotype-expansion
#34
JOURNAL ARTICLE
Haitian Nan, Min Chu, Jing Zhang, Deming Jiang, Yihao Wang, Liyong Wu
BACKGROUND: Okur-Chung neurodevelopmental syndrome (OCNDS) is a rare autosomal dominant disorder caused by pathogenic variants in CSNK2A1. It is characterized by intellectual disability, developmental delay, and multisystemic abnormalities. METHODS: We performed the whole-exome sequencing for a patient in a Chinese family. The co-segregation study using the Sanger sequencing method was performed among family members. Reverse transcription and quantitative real-time polymerase chain reaction were carried out using total RNA from blood samples of the proband and wild-type control subjects...
March 2024: Molecular Genetics & Genomic Medicine
https://read.qxmd.com/read/38442418/the-use-of-differing-verb-types-in-the-oral-narratives-of-school-age-children
#35
JOURNAL ARTICLE
Allison Switzer, Jayne Brandel, LaVae Hoffman
The aim of this project was to examine age-related use of action, metacognitive, and metalinguistic verbs because factors related to verb transparency are thought to impact word learning. Performance on fictional, oral narratives elicited using a single-episode picture was evaluated for 84 children with typical language (TL) and 38 age-matched children with a Developmental Language Disorder (DLD) ranging in age from 5;1 to 14;4 years of age. Narrative samples were transcribed and coded for occurrences of action verbs (AV), metacognitive verbs (MCV), and metalinguistic verbs (MLV)...
March 5, 2024: Clinical Linguistics & Phonetics
https://read.qxmd.com/read/38440664/status-of-identification-of-communication-disorder-in-children-in-current-scenario-a-survey-from-west-bengal
#36
JOURNAL ARTICLE
Nikita Chatterjee, Suman Kumar, Piyali Kundu
To find the status of age of suspicion and identification availed for children with different communication disorders. This cross-sectional survey study was conducted on 2081 children aged 0.5 to 15 years (mean: 5.41; S.D.: ±3.77) who came to the speech-language diagnostic department of AYJNISHD(D), RC, Kolkata for availing rehabilitation service at the institute. The information was gathered from the parents and caregivers of the children. After detailed evaluation by the interdisciplinary team, the developed 14-item questionnaire was administered, and data were recorded and tabulated...
February 2024: Indian Journal of Otolaryngology and Head and Neck Surgery
https://read.qxmd.com/read/38435203/examining-the-impact-of-group-based-social-skills-intervention-in-autistic-children-aged-eight-to-15-years
#37
JOURNAL ARTICLE
Mona P Gajre, Mansi Shah, Shreeya V Pradhan, Harshna Aseri
Introduction Autism spectrum disorder (ASD) is a neurological and developmental disorder, which poses challenges to social communication and behavior, particularly affecting social functioning. Individuals with ASD face significant social challenges, including difficulty understanding social cues and body language, limited ability to engage in reciprocal social interactions, and challenges with establishing empathy. A preference for routines and repetitive behaviors limits their ability to adapt to new or unexpected social situations...
February 2024: Curēus
https://read.qxmd.com/read/38426737/enhanced-milieu-teaching-in-resource-constrained-settings-stakeholder-informed-adaptation-guidelines
#38
JOURNAL ARTICLE
Chevonne D Du Plessis, Lauren H Hampton, Michal Harty
BACKGROUND:  Enhanced Milieu Teaching (EMT) is an evidence-based naturalistic developmental behavioural intervention (NDBI) for children with developmental disabilities. Little is known about the EMT's fit or what adaptations might be needed to improve its applicability within a resource-constrained setting. OBJECTIVES:  To explore stakeholders' perceptions of the contextual fit of EMT for young children with developmental disabilities in a resource-constrained context and to identify adaptations to improve EMT's contextual fit...
February 21, 2024: South African Journal of Communication Disorders. die Suid-Afrikaanse Tydskrif Vir Kommunikasieafwykings
https://read.qxmd.com/read/38426035/the-suitability-and-acceptability-of-a-co-designed-prototype-psychoeducational-activity-book-for-autistic-children-aged-five-eleven-years
#39
JOURNAL ARTICLE
Lauren Powell, Gemma Wheeler, Chris Redford, Jonathan Stott
BACKGROUND AND AIMS: Evidence suggests that autistic children and young people (CAYP) can benefit from age-appropriate psychoeducation. Co-design is a methodology that iteratively involves end users and stakeholders in producing an intervention which may increase engagement and impact. Few age-appropriate co-designed psychoeducation resources for autistic CAYP exist. Therefore, a paper-based resource was co-designed for autistic CAYP who attend mainstream primary education. The resource aims to educate CAYP about their autism and provide strategies to support them to live well with their autism...
2024: Autism & Developmental Language Impairments
https://read.qxmd.com/read/38425887/the-relationship-between-object-play-language-and-visual-and-motor-skills-in-children-at-risk-of-developmental-disorders-between-12-and-37-months
#40
Rafał Kawa
BACKGROUND: Exploratory object play is a primary strategy in amassing knowledge about one's environment and determines the development of language skills at a later age. However, still much remains unknown about how object play is related to visual and language development in children at risk of developmental disorders. PARTICIPANTS AND PROCEDURE: Forty-four children at risk of developmental disorders aged 13 to 37 months took part in the study. The measurement of object play relied on observation of children manipulating novel objects...
2024: Health Psychology Report
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