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https://www.readbyqxmd.com/read/28649782/heterozygous-variants-in-actl6a-encoding-a-component-of-the-baf-complex-are-associated-with-intellectual-disability
#1
Ronit Marom, Mahim Jain, Lindsay C Burrage, I-Wen Song, Brett H Graham, Chester W Brown, Servi J C Stevens, Alexander P A Stegmann, Andrew T Gunter, Julie D Kaplan, Ralitza H Gavrilova, Marwan Shinawi, Jill A Rosenfeld, Yangjin Bae, Alyssa A Tran, Yuqing Chen, James T Lu, Richard A Gibbs, Christine Eng, Yaping Yang, Justine Rousseau, Bert B A de Vries, Philippe M Campeau, Brendan Lee
Pathogenic variants in genes encoding components of the BAF chromatin remodeling complex have been associated with intellectual disability syndromes. We identified heterozygous, novel variants in ACTL6A, a gene encoding a component of the BAF complex, in three subjects with varying degrees of intellectual disability. Two subjects have missense variants affecting highly conserved amino acid residues within the actin-like domain. Missense mutations in the homologous region in yeast actin were previously reported to be dominant lethal and were associated with impaired binding of the human ACTL6A to β-actin and BRG1...
June 25, 2017: Human Mutation
https://www.readbyqxmd.com/read/28641164/protective-effects-of-flavonoids-against-alzheimer-s-disease-related-neural-dysfunctions
#2
REVIEW
Mahsa Bakhtiari, Yunes Panahi, Javad Ameli, Behrad Darvishi
Senile ages of human life is mostly associated with developmental of several neurological complicated conditions including decreased cognition and reasoning, increased memory loss and impaired language performance. Alzheimer's disease (AD) is the most prevalent neural disorder associated with dementia, consisting of about 70% of dementia reported cases. Failure of currently approved chemical anti-AD therapeutic agents has once again brought up the idea of administering naturally occurring compounds as effective alternative and/or complementary regimens in AD treatment...
June 19, 2017: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/28637735/development-of-the-tailored-rett-intervention-and-assessment-longitudinal-trial-database-and-the-rett-evaluation-of-symptoms-and-treatments-rest-questionnaire
#3
Paramala Santosh, Kate Lievesley, Federico Fiori, Jatinder Singh
INTRODUCTION: Rett syndrome (RTT) is a pervasive neurodevelopmental disorder that presents with deficits in brain functioning leading to language and learning regression, characteristic hand stereotypies and developmental delay. Different mutations in the gene implicated in RTT-methyl-CpG-binding protein 2 (MECP2) establishes RTT as a disorder with divergent symptomatology ranging from individuals with severe to milder phenotypes. A reliable and single multidimensional questionnaire is needed that can embrace all symptoms, and the relationships between them, and can map clinically meaningful data to symptomatology across the lifespan in patients with RTT...
June 21, 2017: BMJ Open
https://www.readbyqxmd.com/read/28628841/mitochondrial-dysfunction-in-autism-spectrum-disorder-clinical-features-and-perspectives
#4
REVIEW
Fiona Hollis, Alexandros K Kanellopoulos, Claudia Bagni
Autism Spectrum Disorder (ASD) is a prototypic pervasive developmental disorder characterized by social interaction, and communication deficits, repetitive, stereotypic patterns of behavior, and impairments in language and development. Clinical studies have identified mitochondrial disturbances at the levels of DNA, activity, complexes, oxidative stress, and metabolites in blood and urine of ASD patients. However, these observations from postmortem brains or peripheral tissues do not provide a direct link between autism and mitochondria...
June 16, 2017: Current Opinion in Neurobiology
https://www.readbyqxmd.com/read/28621083/metacognition-in-speech-and-language-therapy-for-children-with-social-pragmatic-communication-disorders-implications-for-a-theory-of-therapy
#5
Jacqueline Gaile, Catherine Adams
BACKGROUND: Metacognition is a significant component of complex interventions for children who have developmental language disorders. Research into how metacognition operates in the content or process of developmental language therapy delivery is limited. Identification and description of proposed active therapy components, such as metacognition, may contribute to our understanding of how to deliver complex communication interventions in an optimal manner. AIMS: To analyse aspects of metacognition during therapy derived from a manualized speech and language intervention (the Social Communication Intervention Programme-SCIP) as delivered to children who have social (pragmatic) communication disorder (SPCD) and to examine the dynamic process of delivering therapy...
June 16, 2017: International Journal of Language & Communication Disorders
https://www.readbyqxmd.com/read/28614580/dynamic-assessment-for-3-and-4-year-old-children-who-use-augmentative-and-alternative-communication-evaluating-expressive-syntax
#6
Cathy Binger, Jennifer Kent-Walsh, Marika King
Purpose: The developmental readiness to produce early sentences with an iPad communication application was assessed with ten 3- and 4-year-old children with severe speech disorders using graduated prompting dynamic assessment (DA) techniques. The participants' changes in performance within the DA sessions were evaluated, and DA performance was compared with performance during a subsequent intervention. Method: Descriptive statistics were used to examine patterns of performance at various cueing levels and mean levels of cueing support...
June 14, 2017: Journal of Speech, Language, and Hearing Research: JSLHR
https://www.readbyqxmd.com/read/28607477/gabaa-receptor-subunit-gene-polymorphisms-predict-symptom-based-and-developmental-deficits-in-chinese-han-children-and-adolescents-with-autistic-spectrum-disorders
#7
Shuhan Yang, Xuan Guo, Xiaopeng Dong, Yu Han, Lei Gao, Yuanyuan Su, Wei Dai, Xin Zhang
GABAA receptor subunit genes GABRB3, GABRA5, and GABRG3 located on chromosome 15q11-q13 have been implicated in the etiology of autistic spectrum disorders (ASD). This study intended to investigate the possible role of single-nucleotide polymorphisms (SNPs) present in GABRB3 (rs2081648 and rs1426217), GABRA5 (rs35586628), and GABRG3 (rs208129) genes in ASD susceptibility and symptom-based and developmental phenotypes of ASD in Chinese Han children and adolescents. 99 ASD patients and 231 age- and gender- frequency-matched typical developing (TD) controls were tested by TaqMan® genotyping assay...
June 12, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28604578/long-term-outcomes-of-cochlear-implantation-in-children-with-congenital-cytomegalovirus-infection
#8
Haruo Yoshida, Haruo Takahashi, Yukihiko Kanda, Kyoko Kitaoka, Minoru Hara
OBJECTIVE: To investigate the role of the developmental delay often observed in children with congenital cytomegalovirus (CMV) infection on the improvement of language understanding after cochlear implantation (CI). STUDY DESIGN: Retrospective chart review. PATIENTS: Sixteen children with severe and/or profound hearing loss due to congenital CMV infection (CMV group) and 107 congenitally deaf children (168 ears) without CMV infection as the cause of deafness (non-CMV group)...
June 9, 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28594429/effects-of-serial-and-concurrent-training-on-receptive-identification-tasks-a-systematic-replication
#9
Kara L Wunderlich, Timothy R Vollmer
The current study compared the use of serial and concurrent methods to train multiple exemplars when teaching receptive language skills, providing a systematic replication of Wunderlich, Vollmer, Donaldson, and Phillips (2014). Five preschoolers diagnosed with developmental delays or autism spectrum disorders were taught to receptively identify letters or letter sounds. Subjects learned the target stimuli slightly faster in concurrent training and a high degree of generalization was obtained following both methods of training, indicating that both the serial and concurrent methods of training are efficient and effective instructional procedures...
June 8, 2017: Journal of Applied Behavior Analysis
https://www.readbyqxmd.com/read/28577444/auditory-processing-deficits-are-sometimes-necessary-and-sometimes-sufficient-for-language-difficulties-in-children-evidence-from-mild-to-moderate-sensorineural-hearing-loss
#10
Lorna F Halliday, Outi Tuomainen, Stuart Rosen
There is a general consensus that many children and adults with dyslexia and/or specific language impairment display deficits in auditory processing. However, how these deficits are related to developmental disorders of language is uncertain, and at least four categories of model have been proposed: single distal cause models, risk factor models, association models, and consequence models. This study used children with mild to moderate sensorineural hearing loss (MMHL) to investigate the link between auditory processing deficits and language disorders...
May 31, 2017: Cognition
https://www.readbyqxmd.com/read/28575760/benign-childhood-epilepsy-with-centrotemporal-spikes-bects-and-developmental-co-ordination-disorder
#11
Amanda Kirby, Natalie Williams, Loes Koelewijn, Lisa M Brindley, Suresh D Muthukumaraswamy, Johann Te Water Naudé, Marie Thomas, Frances Gibbon, Krish D Singh, Khalid Hamandi
BACKGROUND: Benign epilepsy with centro-temporal spikes (BECTS) is a common childhood epilepsy syndrome also known as Rolandic Epilepsy (RE). Neurocognitive phenotypes have been described with greater focus on attention, reading and language domains but there have been far fewer studies focusing on motor functioning. This study included measures of motor, language and cognition in order to investigate the range, degree and pattern of difficulties associated with BECTS in a case series of children, but with a particular emphasis on motor skills...
May 30, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28545237/emotion-recognition-in-adolescents-with-down-syndrome-a-nonverbal-approach
#12
Régis Pochon, Claire Touchet, Laure Ibernon
Several studies have reported that persons with Down syndrome (DS) have difficulties recognizing emotions; however, there is insufficient research to prove that a deficit of emotional knowledge exists in DS. The aim of this study was to evaluate the recognition of emotional facial expressions without making use of emotional vocabulary, given the language problems known to be associated with this syndrome. The ability to recognize six emotions was assessed in 24 adolescents with DS. Their performance was compared to that of 24 typically developing children with the same nonverbal-developmental age, as assessed by Raven's Progressive Matrices...
May 23, 2017: Brain Sciences
https://www.readbyqxmd.com/read/28536956/improving-functional-language-and-social-motivation-with-a-parent-mediated-intervention-for-toddlers-with-autism-spectrum-disorder
#13
Jessica Bradshaw, Lynn Kern Koegel, Robert L Koegel
Recent research suggests that children with autism spectrum disorder (ASD) may now be reliably identified in later infancy, highlighting the need for empirically-validated interventions for infants and toddlers with early symptoms of ASD. Using a multiple baseline design across 15- to 21-month-old toddlers, this study implemented a brief, parent-mediated, Pivotal Response Treatment program, focusing on improving expressive communication. The results indicated that verbal communication improved as a consequence of the intervention, with concomitant improvements in untreated areas for all participants...
May 23, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28535720/retrospectively-assessed-early-motor-and-current-pragmatic-language-skills-in-autistic-and-neurotypical-children
#14
Jennifer L Stevenson, Caitlin E Lindley, Nicole Murlo
Autistic individuals often struggle developmentally, even in areas that are not explicit diagnostic criteria, such as motor skills. This study explored the relation between early motor skills, assessed retrospectively, and current pragmatic language skills. Caregivers of neurotypical and autistic children, matched on gender and age, completed assessments of their child's early motor development and current language abilities. Early motor skills were correlated with later pragmatic language skills, and autistic children exhibited fewer motor skills than neurotypical children...
January 1, 2017: Perceptual and Motor Skills
https://www.readbyqxmd.com/read/28534656/early-development-in-rett-syndrome-the-benefits-and-difficulties-of-a-birth-cohort-approach
#15
Peter B Marschik, Sanne Lemcke, Christa Einspieler, Dajie Zhang, Sven Bölte, Gillian S Townend, Marlene B Lauritsen
PURPOSES: Typically, early (pre-diagnostic) development in individuals later diagnosed with Rett syndrome (RTT) has been investigated retrospectively using parent reports, medical records and analysis of home videos. In recent years, prospective research designs have been increasingly applied to the investigation of early development in individuals with late phenotypical onset disorders, for example, autism spectrum disorder. METHODS: In this study, data collected by the Danish National Birth Cohort lent itself to prospective exploration of the early development of RTT, in particular early motor-, speech-language, and socio-communicative behaviors, mood, and sleep...
May 23, 2017: Developmental Neurorehabilitation
https://www.readbyqxmd.com/read/28515550/communication-impairments-in-children-with-inborn-errors-of-metabolism-a-preliminary-study
#16
Shivani Tiwari, Divya Kallianpur, Kelly Ann DeSilva
PURPOSE: Inborn Errors of Metabolism (IEMs) are a group of complex genetic conditions, predominantly affecting the pediatric population. While the understanding and identification of various IEMs has significantly improved over recent times, not much is known about the communication disorders in this population. The present study focused on identification and profiling of communication impairments in children diagnosed with IEMs. METHODS: Data was obtained retrospectively from medical records of children visiting a tertiary care hospital over a period of ten years (2005 - 2014)...
March 2017: Indian Journal of Psychological Medicine
https://www.readbyqxmd.com/read/28506544/development-of-the-vanderbilt-assessment-for-delirium-in-infants-and-children-to-standardize-pediatric-delirium-assessment-by-psychiatrists
#17
REVIEW
Maalobeeka Gangopadhyay, Heidi Smith, Maryland Pao, Gabrielle Silver, Deepmala Deepmala, Claire De Souza, Georgina Garcia, Lisa Giles, Danica Denton, Natalie Jacobowski, Pratik Pandharipande, Catherine Fuchs
BACKGROUND: Pediatric delirium assessment is complicated by variations in baseline language and cognitive skills, impairment during illness, and absence of pediatric-specific modifiers within the Diagnostic and Statistical Manual of Mental Disorders delirium criterion. OBJECTIVE: To develop a standardized approach to pediatric delirium assessment by psychiatrists. METHODS: A multidisciplinary group of clinicians used Diagnostic and Statistical Manual criterion as the foundation for the Vanderbilt Assessment for Delirium in Infants and Children (VADIC)...
July 2017: Psychosomatics
https://www.readbyqxmd.com/read/28506442/boosting-syntax-training-with-temporally-regular-musical-primes-in-children-with-cochlear-implants
#18
N Bedoin, A-M Besombes, E Escande, A Dumont, P Lalitte, B Tillmann
OBJECTIVES: Previous research has suggested the use of rhythmic structures (implemented in musical material) to improve linguistic structure processing (i.e., syntax processing), in particular for populations showing deficits in syntax and temporal processing (e.g., children with developmental language disorders). The present study proposes a long-term training program to improve syntax processing in children with cochlear implants, a population showing syntax processing deficits in perception and production...
May 11, 2017: Annals of Physical and Rehabilitation Medicine
https://www.readbyqxmd.com/read/28506348/-influence-of-home-nurture-environment-on-language-development-and-social-emotion-in-children-with-developmental-language-disorder
#19
Guo-Kai Li, Gui-Hua Liu, Qin-Fang Qian, Pin Ge, Yan-Qin Xie, Min-Yan Yang, Zhang-Qiong Wang, Ping Ou
OBJECTIVE: To investigate the influence of home nurture environment on language development and social emotion in children with developmental language disorder (DLD). METHODS: The 1-3 Years Child Home Nurture Environment Scale, Gesell Developmental Scale, and Infant-Toddler Social and Emotional Assessment Scale were used for the evaluation of 125 children with DLD. A total of 130 children with normal language development matched for age and sex were enrolled as control group...
May 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28504353/cmip-haploinsufficiency-in-two-patients-with-autism-spectrum-disorder-and-co-occurring-gastrointestinal-issues
#20
Minjie Luo, Jinbo Fan, Tara L Wenger, Margaret H Harr, Melissa Racobaldo, Surabhi Mulchandani, Holly Dubbs, Elaine H Zackai, Nancy B Spinner, Laura K Conlin
Autism spectrum disorder (ASD) is a genetically heterogeneous group of disorders characterized by impairments in social communication and restricted interests. Though some patients with ASD have an identifiable genetic cause, the cause of most ASD remains elusive. Many ASD susceptibility loci have been identified through clinical studies. We report two patients with syndromic ASD and persistent gastrointestinal issues who carry de novo deletions involving the CMIP gene detected by genome-wide SNP microarray and fluorescence in situ hybridization (FISH) analysis...
May 15, 2017: American Journal of Medical Genetics. Part A
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