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https://www.readbyqxmd.com/read/28942966/haploinsufficiency-of-the-chromatin-remodeler-bptf-causes-syndromic-developmental-and-speech-delay-postnatal-microcephaly-and-dysmorphic-features
#1
Paweł Stankiewicz, Tahir N Khan, Przemyslaw Szafranski, Leah Slattery, Haley Streff, Francesco Vetrini, Jonathan A Bernstein, Chester W Brown, Jill A Rosenfeld, Surya Rednam, Sarah Scollon, Katie L Bergstrom, Donald W Parsons, Sharon E Plon, Marta W Vieira, Caio R D C Quaio, Wagner A R Baratela, Johanna C Acosta Guio, Ruth Armstrong, Sarju G Mehta, Patrick Rump, Rolph Pfundt, Raymond Lewandowski, Erica M Fernandes, Deepali N Shinde, Sha Tang, Juliane Hoyer, Christiane Zweier, André Reis, Carlos A Bacino, Rui Xiao, Amy M Breman, Janice L Smith, Nicholas Katsanis, Bret Bostwick, Bernt Popp, Erica E Davis, Yaping Yang
Bromodomain PHD finger transcription factor (BPTF) is the largest subunit of nucleosome remodeling factor (NURF), a member of the ISWI chromatin-remodeling complex. However, the clinical consequences of disruption of this complex remain largely uncharacterized. BPTF is required for anterior-posterior axis formation of the mouse embryo and was shown to promote posterior neuroectodermal fate by enhancing Smad2-activated wnt8 expression in zebrafish. Here, we report eight loss-of-function and two missense variants (eight de novo and two of unknown origin) in BPTF on 17q24...
September 19, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28940224/therapy-access-among-children-with-autism-spectrum-disorder-cerebral-palsy-and-attention-deficit-hyperactivity-disorder-a-population-based-study
#2
Teal W Benevides, Henry J Carretta, Carole K Ivey, Shelly J Lane
AIM: This study examined cross-sectional population-based rates in reported need and unmet need for occupational, physical, and speech therapy services in children with autism spectrum disorder (ASD) compared with children with attention-deficit-hyperactivity disorder (ADHD) and cerebral palsy (CP). METHOD: The 2005-2006 and 2009-2010 (USA) National Survey of Children with Special Health Care data sets were used to compare therapy need and unmet need among children younger than 18 years with ASD (n=5178), ADHD (n=20 566), and CP (n=1183)...
September 21, 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/28936084/primary-central-nervous-system-fibrosarcoma
#3
V P Vinodh, Rahmat Harun, Pulivendhan Sellamuthu, Regunath Kandasamy
We report a rare case of a young female with primary brain fibrosarcoma, and to the best of our knowledge, we believe that only <50 cases have been reported or described worldwide so far. Fibrosarcoma is a malignant neoplasm, in which histologically the predominant cells are fibroblasts that divide excessively without cellular control and they can invade local tissues or metastasize. Primary central nervous system fibrosarcomas are very aggressive neoplasms and generally have a poor prognosis. This tumor is either from sarcomatous transformation of a meningioma or arises de novo within the brain parenchyma...
August 2017: Journal of Neurosciences in Rural Practice
https://www.readbyqxmd.com/read/28935354/anti-n-methyl-d-aspartate-receptor-encephalitis-in-children-of-central-south-china-clinical-features-treatment-influencing-factors-and-outcomes
#4
Ying Wang, Weixi Zhang, Jinghua Yin, Qianjin Lu, Fei Yin, Fang He, Jing Peng
BACKGROUND AND PURPOSE: We analyzed the clinical manifestations of children with anti-N-methyl-d-aspartate receptor (anti-NMDAR) encephalitis in Central South China and the factors influencing the effectiveness of treatment. METHODS: A retrospective study of children (0-14years old) with anti-NMDAR encephalitis in Central South China was carried out from March 2014 to November 2016. Demographics, clinical features, treatment, outcome, and the factors influencing the effectiveness of treatment were reviewed...
September 11, 2017: Journal of Neuroimmunology
https://www.readbyqxmd.com/read/28935208/vocal-aspects-of-brazilian-evangelical-pastors
#5
REVIEW
Perla do Nascimento Martins, Kelly Cristina Alves Silverio, Alcione Ghedini Brasolotto
PURPOSE: Investigate the vocal and laryngopharyngeal symptoms, vocal quality, Voice Activity and Participation Profile (VAPP), and vocal acoustic and auditory-perceptual characteristics from evangelical pastors comparing with the same aspects of nonprofessional voice men. METHOD: Sixty professionally active male subjects were divided into two groups: 30 pastors and 30 nonprofessional voice men, with ages between 24 and 59 years old. Participants answered the Screening Index for Voice Disorder (SIVD) questionnaire and the VAPP, as well as an auditory-perceptual and acoustic evaluation of the voice...
September 18, 2017: Journal of Voice: Official Journal of the Voice Foundation
https://www.readbyqxmd.com/read/28933983/addition-of-kinesio-taping-of-the-orbicularis-oris-muscles-to-speech-therapy-rapidly-improves-drooling-in-children-with-neurological-disorders
#6
Denise Lica Yoshimura Mikami, Cristina Lemos Barbosa Furia, Alexis Fonseca Welker
OBJECTIVE: To evaluate the effects of Kinesio Taping (KT) of the orbicularis oris muscles as an adjunct to standard therapy for drooling. METHODS: Fifteen children with neurological disorders and drooling received speech therapy and twice-weekly KT of the orbicularis muscles over a 30-day period. Drooling was assessed by six parameters: impact on the life of the child and caregiver; severity of drooling; frequency of drooling; drooling volume (estimated by number of bibs used); salivary leak; and interlabial gap...
September 21, 2017: Developmental Neurorehabilitation
https://www.readbyqxmd.com/read/28933620/sequential-processing-deficit-as-a-shared-persisting-biomarker-in-dyslexia-and-childhood-apraxia-of-speech
#7
Beate Peter, Hope Lancaster, Caitlin Vose, Kyle Middleton, Carol Stoel-Gammon
The purpose of this study was to investigate the hypothesis that individuals with dyslexia and individuals with childhood apraxia of speech share an underlying persisting deficit in processing sequential information. Levels of impairment (sensory encoding, memory, retrieval, and motor planning/programming) were also investigated. Participants were 22 adults with dyslexia, 10 adults with a probable history of childhood apraxia of speech (phCAS), and 22 typical controls. All participants completed nonword repetition, multisyllabic real word repetition, and nonword decoding tasks...
September 21, 2017: Clinical Linguistics & Phonetics
https://www.readbyqxmd.com/read/28926572/automatic-initial-and-final-segmentation-in-cleft-palate-speech-of-mandarin-speakers
#8
Ling He, Yin Liu, Heng Yin, Junpeng Zhang, Jing Zhang, Jiang Zhang
The speech unit segmentation is an important pre-processing step in the analysis of cleft palate speech. In Mandarin, one syllable is composed of two parts: initial and final. In cleft palate speech, the resonance disorders occur at the finals and the voiced initials, while the articulation disorders occur at the unvoiced initials. Thus, the initials and finals are the minimum speech units, which could reflect the characteristics of cleft palate speech disorders. In this work, an automatic initial/final segmentation method is proposed...
2017: PloS One
https://www.readbyqxmd.com/read/28923025/intrafamilial-phenotypic-heterogeneity-in-a-taiwanese-family-with-a-mapt-p-r5h-mutation-a-case-report-and-literature-review
#9
Hui-Chi Lin, Chin-Hsien Lin, Pei-Lung Chen, Shih-Jung Cheng, Pei-Hao Chen
BACKGROUND: Frontotemporal degeneration (FTD) is a clinically and genetically heterogeneous neurodegenerative disorder characterized by deficits in executive function that frequently overlaps with parkinsonism and motor neuron disorders. Several genes have been identified to cause autosomal dominant forms of FTD, including the gene coding for the protein associated with microtubule tau (MAPT). While most reported pathogenic mutations in MAPT occur in exons 9-13, few families have been reported with mutations outside of this region...
September 18, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28922047/long-term-average-speech-spectra-of-turkish
#10
Mustafa Yüksel, Bülent Gündüz
Long-term average speech spectra (LTASS) are a voice analysis method that is recommended to be used in various areas, such as hearing aid fittings, automatic speaker recognition and voice disorders. Evaluations of LTASS in different languages have been published; however, this analysis has not been conducted for the Turkish. Therefore, the first aim of this study was to conduct this analysis, generate normative values and compare the obtained LTASS curve for the Turkish with those obtained for other languages reported in the literature...
September 18, 2017: Logopedics, Phoniatrics, Vocology
https://www.readbyqxmd.com/read/28919431/neurocircuitry-of-impaired-affective-sound-processing-a-clinical-disorders-perspective
#11
REVIEW
Sascha Frühholz, Matthias Staib
Decoding affective meaning from sensory information is central to accurate and adaptive behavior in many natural and social contexts. Human vocalizations (speech and non-speech), environmental sounds (e.g. thunder, noise, or animal sounds) and human-produced sounds (e.g. technical sounds or music) can carry a wealth of important aversive, threatening, appealing, or pleasurable affective information that sometimes implicitly influences and guides our behavior. Deficits in processing such affective information is detrimental to adaptive environmental behavior, psychological well-being, and social interactive abilities...
September 14, 2017: Neuroscience and Biobehavioral Reviews
https://www.readbyqxmd.com/read/28918504/autism-spectrum-disorders-and-disease-modeling-using-stem-cells
#12
REVIEW
Anita Brito, Fabiele Baldino Russo, Alysson Renato Muotri, Patricia Cristina Baleeiro Beltrão-Braga
Autism spectrum disorders (ASD) represent a variety of disorders characterized as complex lifelong neurodevelopment disabilities, which may affect the ability of communication and socialization, including typical comportments like repetitive and stereotyped behavior. Other comorbidities are usually present, such as echolalia, hypotonia, intellectual disability and difficulties in processing figured speech. Furthermore, some ASD individuals may present certain abilities, such as eidetic memory, outstanding musical or painting talents and special mathematical skills, among others...
September 16, 2017: Cell and Tissue Research
https://www.readbyqxmd.com/read/28911819/non-neurogenic-language-disorders-a-preliminary-classification
#13
REVIEW
Mario F Mendez
BACKGROUND: Few publications deal with non-neurogenic language disorders (NNLDs), distinct from psychogenic speech disorders such as psychogenic dysphonia or stuttering. NNLDs are alterations in language owing to psychosomatic preoccupations, conversion disorder, psychiatric disorders, or other psychological reasons. OBJECTIVE: To identify and classify the range of NNLDs and their characteristics. METHODS: This review summarizes the literature on disturbances in language, broadly defined as the use of symbols for communication, which may have a psychogenic or psychiatric etiology...
August 10, 2017: Psychosomatics
https://www.readbyqxmd.com/read/28901779/initial-consonant-deletion-in-bilingual-spanish-english-speaking-children-with-speech-sound-disorders
#14
Leah Fabiano-Smith, Suzanne Lea Cuzner
The purpose of this study was to utilize a theoretical model of bilingual speech sound production as a framework for analyzing the speech of bilingual children with speech sound disorders. In order to distinguish speech difference from speech disorder, we examined between-language interaction on initial consonant deletion, an error pattern found cross-linguistically in the speech of children with speech sound disorders. Thirteen monolingual English-speaking and bilingual Spanish-and English-speaking preschoolers with speech sound disorders were audio-recorded during a single word picture-naming task and their recordings were phonetically transcribed...
September 13, 2017: Clinical Linguistics & Phonetics
https://www.readbyqxmd.com/read/28901542/effects-of-response-contingent-stimulus-pairing-on-vocalizations-of-nonverbal-children-with-autism
#15
Tracy L Lepper, Anna Ingeborg Petursdottir
Research on stimulus-stimulus pairing to induce novel vocalizations in nonverbal children has typically employed response-independent pairing (RIP) procedures to condition speech sounds as reinforcers. The purpose of the present study was to evaluate the effects of a response-contingent pairing (RCP) procedure on the vocalizations of three nonverbal boys diagnosed with autism spectrum disorder. During RCP, adult-delivered sounds that were either paired with a preferred item (target sounds) or not (nontarget sounds) were presented contingent on a button-press response...
September 13, 2017: Journal of Applied Behavior Analysis
https://www.readbyqxmd.com/read/28899572/hypoglossal-nerve-palsy-in-the-course-of-dissection-of-the-internal-carotid-arteries-case-reports
#16
Magdalena Torbus-Paluszczak, Sebastian Mucha, Maciej Wawrzyńczyk, Krystyna Pierzchała, Wojciech Bartman, Monika Adamczyk-Sowa
Internal carotid artery dissection (ICAD) has become an increasingly recognized cause of cerebrovascular accidents in young and middle-aged patients. We report 2 cases of hypoglossal nerve palsy in the course of dissection of the internal carotid arteries. The first patient was admitted to the Department of Neurology due to swallowing difficulty, speech articulation disorders and numbness of the right half of the tongue for 4 weeks. Extracranial vessel ultrasound (US) and transcranial colour Doppler (TCD) visualized thrombus causing occlusion of the right internal carotid artery (RICA)...
August 30, 2017: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/28899551/relationship-between-neuronal-network-architecture-and-naming-performance-in-temporal-lobe-epilepsy-a-connectome-based-approach-using-machine-learning
#17
REVIEW
B C Munsell, G Wu, J Fridriksson, K Thayer, N Mofrad, N Desisto, D Shen, L Bonilha
Impaired confrontation naming is a common symptom of temporal lobe epilepsy (TLE). The neurobiological mechanisms underlying this impairment are poorly understood but may indicate a structural disorganization of broadly distributed neuronal networks that support naming ability. Importantly, naming is frequently impaired in other neurological disorders and by contrasting the neuronal structures supporting naming in TLE with other diseases, it will become possible to elucidate the common systems supporting naming...
September 9, 2017: Brain and Language
https://www.readbyqxmd.com/read/28895450/identifying-occupations-at-risk-for-laryngeal-disorders-requiring-specialty-voice-care
#18
Matthew C Mori, David O Francis, Phillip C Song
Objective To identify occupational groups' use of specialty voice clinic evaluation. Study Design Retrospective cohort study. Setting Tertiary subspecialty clinic. Subjects and Methods We analyzed data collected on patients presenting to the Massachusetts Eye and Ear Infirmary Voice and Speech Laboratory over a 20-year period (1993-2013). The relative risk (RR) and 99% confidence interval (CI) of presentation were calculated for each occupational category in the greater Boston population using year-matched data from the Bureau of Labor Statistics (BLS)...
September 1, 2017: Otolaryngology—Head and Neck Surgery
https://www.readbyqxmd.com/read/28894942/first-steps-towards-development-of-an-instrument-for-the-reproducible-quantification-of-oropharyngeal-swallow-physiology-in-bottle-fed-children
#19
Maureen A Lefton-Greif, Katlyn Elizabeth McGrattan, Kathryn A Carson, Jeanne M Pinto, Jennifer M Wright, Bonnie Martin-Harris
The incidence of feeding/swallowing impairments (deglutition disorders) in young children is rising and poses serious acute and long-term health consequences. Accurate detection and prompt intervention can lessen the impact of dysphagia-induced sequelae. Videofluoroscopic Swallow Studies (VFSSs) are used to make critical decisions for medically fragile children despite procedural variability and the lack of agreed upon measures for interpreting and reporting results. This investigation represents the first steps in the development of a novel tool for the quantification of oropharyngeal swallow physiology from full-length VFSS examinations in bottle-fed children...
September 11, 2017: Dysphagia
https://www.readbyqxmd.com/read/28884888/foxp1-haploinsufficiency-phenotypes-beyond-behavior-and-intellectual-disability
#20
Angela Myers, Christèle du Souich, Connie L Yang, Lior Borovik, Jill Mwenifumbo, Rosemarie Rupps, Causes Study, Anna Lehman, Cornelius F Boerkoel
The forkhead box (FOX) transcription factors have roles in development, carcinogenesis, metabolism, and immunity. In humans FOXP1 mutations have been associated with language and speech defects, intellectual disability, autism spectrum disorder, facial dysmorphisms, and congenital anomalies of the kidney and urinary tract. In mice, Foxp1 plays critical roles in development of the spinal motor neurons, lymphocytes, cardiomyocytes, foregut, and skeleton. We hypothesized therefore that mutations of FOXP1 affect additional tissues in some humans...
September 8, 2017: American Journal of Medical Genetics. Part A
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