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https://www.readbyqxmd.com/read/29896732/-clinical-phenotypes-and-genetic-study-of-2-cases-with-22q13-deletion-syndrome
#1
Jihang Luo, Di Fang, Wenjuan Qiu, Bing Xiao, Yanjie Fan, Jun Ye, Lianshu Han, Huiwen Zhang, Yongguo Yu, Lili Liang, Xuefan Gu
OBJECTIVE: To determine the genetic etiology and clinical characteristics of 2 boys featuring development delay (DD). METHODS: Routine chromosomal banding was performed to analyze the karyotypes of the patients and their parents. Single nucleotide polymorphism array (SNP array) analysis was employed to identify pathogenic deletion/duplication of chromosomes, and quantitative real-time PCR (qPCR) was performed to confirm the results. RESULTS: Patient 1 showed a global developmental delay, especially impaired language development, seizures, behavioral problems belonging to the autism spectrum and mild facial dysmorphism...
June 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29894448/neurologic-outcomes-after-extracorporeal-membrane-oxygenation-a-systematic-review
#2
Katharine Boyle, Ryan Felling, Alvin Yiu, Wejdan Battarjee, Jamie McElrath Schwartz, Cynthia Salorio, Melania M Bembea
OBJECTIVES: The goal of this systematic review of the literature was to summarize neurologic outcomes following neonatal and pediatric extracorporeal membrane oxygenation. DATA SOURCES: We conducted electronic searches of PubMed, Scopus, Web of Science, CINAHL, Cochrane, and EMBASE. STUDY SELECTION: Inclusion criteria included publication dates 2000-2016, patient ages 0-18 years, and use of standardized measures to evaluate outcomes after extracorporeal membrane oxygenation...
June 11, 2018: Pediatric Critical Care Medicine
https://www.readbyqxmd.com/read/29887135/variably-protease-sensitive-prionopathy
#3
Silvio Notari, Brian S Appleby, Pierluigi Gambetti
Variably protease-sensitive prionopathy (VPSPr), originally identified in 2008, was further characterized and renamed in 2010. Thirty-seven cases of VPSPr have been reported to date, consistent with estimated prevalence of 0.7-1.7% of all sporadic prion diseases. The lack of gene mutations establishes VPSPr as a sporadic form of human prion diseases, along with sporadic Creutzfeldt-Jakob disease (sCJD) and sporadic fatal insomnia. Like sCJD, VPSPr affects patients harboring any of the three genotypes, MM, MV, and VV at the prion protein (PrP) gene polymorphic codon 129, with VPSPr VV accounting for 65% of all VPSPr cases...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29882104/inter-rater-agreement-of-clinicians-treatment-recommendations-based-on-modified-barium-swallow-study-reports
#4
Laurie Slovarp, Jennifer Danielson, Julie Liss
The modified barium swallow study (MBSS) is a commonly used radiographic procedure for diagnosis and treatment of swallowing disorders. Despite attempts by dysphagia specialists to standardize the MBSS, most institutions have not adopted such standardized procedures. High variability of assessment patterns arguably contribute to variability of treatment recommendations made from diagnostic information derived from the MBSS report. An online survey was distributed to speech-language pathologists (SLPs) participating in American Speech Language Hearing Association (ASHA) listservs...
June 7, 2018: Dysphagia
https://www.readbyqxmd.com/read/29875717/working-memory-deficits-after-lesions-involving-the-supplementary-motor-area
#5
Alba Cañas, Montserrat Juncadella, Ruth Lau, Andreu Gabarrós, Mireia Hernández
The Supplementary Motor Area (SMA)-located in the superior and medial aspects of the superior frontal gyrus-is a preferential site of certain brain tumors and arteriovenous malformations, which often provoke the so-called SMA syndrome. The bulk of the literature studying this syndrome has focused on two of its most apparent symptoms: contralateral motor and speech deficits. Surprisingly, little attention has been given to working memory (WM) even though neuroimaging studies have implicated the SMA in this cognitive process...
2018: Frontiers in Psychology
https://www.readbyqxmd.com/read/29869466/functional-communication-profiles-in-children-with-cerebral-palsy-in-relation-to-gross-motor-function-and-manual-and-intellectual-ability
#6
Ja Young Choi, Jieun Park, Yoon Seong Choi, Yu Ra Goh, Eun Sook Park
PURPOSE: The aim of the present study was to investigate communication function using classification systems and its association with other functional profiles, including gross motor function, manual ability, intellectual functioning, and brain magnetic resonance imaging (MRI) characteristics in children with cerebral palsy (CP). MATERIALS AND METHODS: This study recruited 117 individuals with CP aged from 4 to 16 years. The Communication Function Classification System (CFCS), Viking Speech Scale (VSS), Speech Language Profile Groups (SLPG), Gross Motor Function Classification System (GMFCS), Manual Ability Classification System (MACS), and intellectual functioning were assessed in the children along with brain MRI categorization...
July 2018: Yonsei Medical Journal
https://www.readbyqxmd.com/read/29859413/walking-while-talking-young-adults-flexibly-allocate-resources-between-speech-and-gait
#7
Tiphanie E Raffegeau, Jeffrey M Haddad, Jessica E Huber, Shirley Rietdyk
BACKGROUND: Walking while talking is an ideal multitask behavior to assess how young healthy adults manage concurrent tasks as it is well-practiced, cognitively demanding, and has real consequences for impaired performance in either task. Since the association between cognitive tasks and gait appears stronger when the gait task is more challenging, gait challenge was systematically manipulated in this study. OBJECTIVE: To understand how young adults accomplish the multitask behavior of walking while talking as the gait challenge was systematically manipulated...
May 26, 2018: Gait & Posture
https://www.readbyqxmd.com/read/29857751/intelligibility-of-naturally-produced-and-synthesized-mandarin-speech-by-cochlear-implant-listeners
#8
Ying Shi, Jingyuan Chen, Yue Gong, Biao Chen, Yongxin Li, John J Galvin, Qian-Jie Fu
Mandarin is a tonal language, and it is important to preserve lexical tone information in synthesized speech. With natural speech, Chinese cochlear implant (CI) users have difficulty perceiving voice pitch cues important for lexical tone perception; it is unclear whether this difficulty persists in Mandarin synthesized speech. In this study, intelligibility of naturally produced and synthesized Mandarin speech was measured in Chinese CI listeners; intelligibility was also measured in a control group of normal-hearing (NH) listeners...
May 2018: Journal of the Acoustical Society of America
https://www.readbyqxmd.com/read/29845607/interventions-for-childhood-apraxia-of-speech
#9
REVIEW
Angela T Morgan, Elizabeth Murray, Frederique J Liégeois
BACKGROUND: Childhood apraxia of speech (CAS) affects a child's ability to produce sounds and syllables precisely and consistently, and to produce words and sentences with accuracy and correct speech rhythm. It is a rare condition, affecting only 0.1% of the general population. Consensus has been reached that three core features have diagnostic validity: (1) inconsistent error production on both consonants and vowels across repeated productions of syllables or words; (2) lengthened and impaired coarticulatory transitions between sounds and syllables; and (3) inappropriate prosody (ASHA 2007)...
May 30, 2018: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/29845010/disrupted-functional-connectivity-in-primary-progressive-apraxia-of-speech
#10
Hugo Botha, Rene L Utianski, Jennifer L Whitwell, Joseph R Duffy, Heather M Clark, Edythe A Strand, Mary M Machulda, Nirubol Tosakulwong, David S Knopman, Ronald C Petersen, Clifford R Jack, Keith A Josephs, David T Jones
Apraxia of speech is a motor speech disorder thought to result from impaired planning or programming of articulatory movements. It can be the initial or only manifestation of a degenerative disease, termed primary progressive apraxia of speech (PPAOS). The aim of this study was to use task-free functional magnetic resonance imaging (fMRI) to assess large-scale brain network pathophysiology in PPAOS. Twenty-two PPAOS participants were identified from a prospective cohort of degenerative speech and language disorders patients...
2018: NeuroImage: Clinical
https://www.readbyqxmd.com/read/29800000/identification-of-pure-tone-audiologic-thresholds-for-pediatric-cochlear-implant-candidacy-a-systematic-review
#11
Jasper L de Kleijn, Ludwike W M van Kalmthout, Martijn J B van der Vossen, Bernard M D Vonck, Vedat Topsakal, Hanneke Bruijnzeel
Importance: Although current guidelines recommend cochlear implantation only for children with profound hearing impairment (HI) (>90 decibel [dB] hearing level [HL]), studies show that children with severe hearing impairment (>70-90 dB HL) could also benefit from cochlear implantation. Objective: To perform a systematic review to identify audiologic thresholds (in dB HL) that could serve as an audiologic candidacy criterion for pediatric cochlear implantation using 4 domains of speech and language development as independent outcome measures (speech production, speech perception, receptive language, and auditory performance)...
May 24, 2018: JAMA Otolaryngology—Head & Neck Surgery
https://www.readbyqxmd.com/read/29798098/-study-of-low-frequency-release-time-in-wdrc-on-hearing-impaired-individual-in-mandarin-language-environment
#12
F Jin, X Y Gu, J Sun, Y Y Chen
Objective: To investigate the influence of low frequency release time of WDRC(wide dynamic range compression)to speech recognition score (SRS) of deaf subjects with hearing aids in mandarin language environment. Method: Release time constants are set differently from the values of 50 ms,100 ms,200 ms,400 ms and 800 ms in low frequency (LF) channel,with 3 kinds of shaped noise,combining a certain LF release time constant with a certain shaped noise forms 15 different groups of experimental conditions. The testing material is mandarin sentences which are the outputs of simulation in the 15 different release time combinations...
October 5, 2017: Journal of Clinical Otorhinolaryngology, Head, and Neck Surgery
https://www.readbyqxmd.com/read/29791621/speech-language-pathology-aspects-in-a-pediatric-case-of-head-and-neck-arthrogryposis
#13
Jennifer Alvares Trindade, Jordana da Silva Freitas, Liliane Menzen, Carolina Laux, Lisiane de Rosa Barbosa, Maria Cristina de Almeida Freitas Cardoso
Arthrogryposis is a rare, multiple, congenital syndrome of non-progressive nature characterized by a series of genetic malformations, as well as stiffness and joint contractures. This is a clinical case study whose objective is to describe speech-language pathology disorders through the evaluation process in a case of arthrogryposis in Pediatrics. The medical records of a patient were analyzed from birth. A complete clinical evaluation of pediatric dysphagia was performed, establishing a diagnosis of severe oropharyngeal dysphagia evidenced by functional and structural impairments...
2018: CoDAS
https://www.readbyqxmd.com/read/29790243/identifying-language-impairment-in-bilingual-children-in-france-and-in-germany
#14
Laurice Tuller, Cornelia Hamann, Solveig Chilla, Sandrine Ferré, Eléonore Morin, Philippe Prevost, Christophe Dos Santos, Lina Abed Ibrahim, Racha Zebib
BACKGROUND: The detection of specific language impairment (SLI) in children growing up bilingually presents particular challenges for clinicians. Non-word repetition (NWR) and sentence repetition (SR) tasks have proven to be the most accurate diagnostic tools for monolingual populations, raising the question of the extent of their usefulness in different bilingual populations. AIMS: To determine the diagnostic accuracy of NWR and SR tasks that incorporate phonological/syntactic complexity as discussed in recent linguistic theory...
May 23, 2018: International Journal of Language & Communication Disorders
https://www.readbyqxmd.com/read/29789371/identification-of-new-risk-factors-for-rolandic-epilepsy-cnv-at-xp22-31-and-alterations-at-cholinergic-synapses
#15
Laura Addis, William Sproviero, Sanjeev V Thomas, Roberto H Caraballo, Stephen J Newhouse, Kumudini Gomez, Elaine Hughes, Maria Kinali, David McCormick, Siobhan Hannan, Silvia Cossu, Jacqueline Taylor, Cigdem I Akman, Steven M Wolf, David E Mandelbaum, Rajesh Gupta, Rick A van der Spek, Dario Pruna, Deb K Pal
BACKGROUND: Rolandic epilepsy (RE) is the most common genetic childhood epilepsy, consisting of focal, nocturnal seizures and frequent neurodevelopmental impairments in speech, language, literacy and attention. A complex genetic aetiology is presumed in most, with monogenic mutations in GRIN2A accounting for >5% of cases. OBJECTIVE: To identify rare, causal CNV in patients with RE. METHODS: We used high-density SNP arrays to analyse the presence of rare CNVs in 186 patients with RE from the UK, the USA, Sardinia, Argentina and Kerala, India...
May 22, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29786137/longitudinal-growth-of-receptive-language-in-children-with-cerebral-palsy-between-18-months-and-54-months-of-age
#16
Katherine C Hustad, Ashley Sakash, Aimee Teo Broman, Paul J Rathouz
AIM: We examined receptive language developmental trajectories between 18 months and 54 months for three clinical speech-language profile groups of children with cerebral palsy (those with speech motor involvement, without speech motor involvement, and with anarthria) and quantified differences from age-level expectations. We identified latent classes of comprehension development, related these classes to clinical profile groups, and examined how well early receptive language predicted outcomes...
May 22, 2018: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/29784061/understanding-developmental-language-disorder-the-helsinki-longitudinal-sli-study-helsli-a-study-protocol
#17
Marja Laasonen, Sini Smolander, Pekka Lahti-Nuuttila, Miika Leminen, Hanna-Reetta Lajunen, Kati Heinonen, Anu-Katriina Pesonen, Todd M Bailey, Emmanuel M Pothos, Teija Kujala, Paavo H T Leppänen, Christopher W Bartlett, Ahmed Geneid, Leena Lauronen, Elisabet Service, Sari Kunnari, Eva Arkkila
BACKGROUND: Developmental language disorder (DLD, also called specific language impairment, SLI) is a common developmental disorder comprising the largest disability group in pre-school-aged children. Approximately 7% of the population is expected to have developmental language difficulties. However, the specific etiological factors leading to DLD are not yet known and even the typical linguistic features appear to vary by language. We present here a project that investigates DLD at multiple levels of analysis and aims to make the reliable prediction and early identification of the difficulties possible...
May 21, 2018: BMC Psychology
https://www.readbyqxmd.com/read/29769117/a-protocol-for-a-network-meta-analysis-of-interventions-to-treat-patients-with-sudden-sensorineural-hearing-loss
#18
Nadera Ahmadzai, Shaun Kilty, Dianna Wolfe, Jamie Bonaparte, David Schramm, Elizabeth Fitzpatrick, Vincent Lin, Wei Cheng, Becky Skidmore, David Moher, Brian Hutton
BACKGROUND: Hearing loss is one of the leading causes of disability worldwide, with greater than 20% of Canadian adults having measurable hearing loss in at least one ear. Patients with hearing loss experience impaired quality of life, and emotional and financial consequences that affect themselves and their families. Sudden sensorineural hearing loss (SSNHL) is a common but difficult to treat form of hearing loss that has a sudden onset of ≤ 72 h associated with various etiologies, with the majority of cases being idiopathic...
May 16, 2018: Systematic Reviews
https://www.readbyqxmd.com/read/29764777/comparison-of-social-interaction-between-cochlear-implanted-children-with-normal-intelligence-undergoing-auditory-verbal-therapy-and-normal-hearing-children-a-pilot-study
#19
Leila Monshizadeh, Roshanak Vameghi, Firoozeh Sajedi, Fariba Yadegari, Seyed Basir Hashemi, Petra Kirchem, Fatemeh Kasbi
OBJECTIVE: A cochlear implant is a device that helps hearing-impaired children by transmitting sound signals to the brain and helping them improve their speech, language, and social interaction. Although various studies have investigated the different aspects of speech perception and language acquisition in cochlear-implanted children, little is known about their social skills, particularly Persian-speaking cochlear-implanted children. Considering the growing number of cochlear implants being performed in Iran and the increasing importance of developing near-normal social skills as one of the ultimate goals of cochlear implantation, this study was performed to compare the social interaction between Iranian cochlear-implanted children who have undergone rehabilitation (auditory verbal therapy) after surgery and normal-hearing children...
April 2018: Journal of International Advanced Otology
https://www.readbyqxmd.com/read/29763271/adults-with-developmental-disabilities-a-comprehensive-approach-to-medical-care
#20
Clarissa Kripke
Developmental disabilities are attributable to a cognitive impairment, physical impairment, or both. They manifest during the developmental period from birth to early adulthood, and are likely to continue indefinitely. The life expectancy of most persons with developmental disabilities now approaches that of the general population. According to the neurodiversity model of care, developmental disability is accepted as a valued part of human neurologic diversity. The social model focuses on improving participation in society with accommodations such as adaptive equipment or improvements to the social and physical environment...
May 15, 2018: American Family Physician
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