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https://www.readbyqxmd.com/read/28806338/isolated-second-implant-adaptation-period-in-sequential-cochlear-implantation-in-adults
#1
Kari Smilsky, Peter R Dixon, Leah Smith, David Shipp, Amy Ng, Tara Millman, Suzanne Stewart, Julian M Nedzelski, Vincent Y Lin, Joseph M Chen
OBJECTIVE: To determine if depriving the use of the first cochlear implant (CI1) impacts adaptation to a sequential implant (CI2). STUDY DESIGN: Prospective cohort. SETTING: Academic center. PATIENTS: Sixteen unilateral cochlear implant recipients undergoing contralateral implantation (sequential bilateral) were matched according to age, etiology, duration of deafness, device age, and delay between implants. INTERVENTION: During a 4-week adaptation period after CI2 activation, patients underwent deprivation of CI1 or were permitted continued use of it...
September 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28803710/intrathecal-2-hydroxypropyl-%C3%AE-cyclodextrin-decreases-neurological-disease-progression-in-niemann-pick-disease-type-c1-a-non-randomised-open-label-phase-1-2-trial
#2
Daniel S Ory, Elizabeth A Ottinger, Nicole Yanjanin Farhat, Kelly A King, Xuntian Jiang, Lisa Weissfeld, Elizabeth Berry-Kravis, Cristin D Davidson, Simona Bianconi, Lee Ann Keener, Ravichandran Rao, Ariane Soldatos, Rohini Sidhu, Kimberly A Walters, Xin Xu, Audrey Thurm, Beth Solomon, William J Pavan, Bernardus N Machielse, Mark Kao, Steven A Silber, John C McKew, Carmen C Brewer, Charles H Vite, Steven U Walkley, Christopher P Austin, Forbes D Porter
BACKGROUND: Niemann-Pick disease, type C1 (NPC1) is a lysosomal storage disorder characterised by progressive neurodegeneration. In preclinical testing, 2-hydroxypropyl-β-cyclodextrins (HPβCD) significantly delayed cerebellar Purkinje cell loss, slowed progression of neurological manifestations, and increased lifespan in mouse and cat models of NPC1. The aim of this study was to assess the safety and efficacy of lumbar intrathecal HPβCD. METHODS: In this open-label, dose-escalation phase 1-2a study, we gave monthly intrathecal HPβCD to participants with NPC1 with neurological manifestation at the National Institutes of Health (NIH), Bethesda, MD, USA...
August 10, 2017: Lancet
https://www.readbyqxmd.com/read/28790903/increase-in-beta-band-activity-during-preparation-for-overt-speech-in-patients-with-parkinson-s-disease
#3
Peter Sörös, Nuria Doñamayor, Catharina Wittke, Mohamed Al-Khaled, Norbert Brüggemann, Thomas F Münte
Speech impairment is a frequent and often serious symptom of Parkinson's disease (PD), characterized by a disorder of phonation, articulation and prosody. While research on the pathogenesis of the prominent limb motor symptoms has made considerable progress in recent years, the pathophysiology of PD speech impairment is still incompletely understood. To investigate the neural correlates of speech production in PD, EEG was recorded in 14 non-demented patients with idiopathic PD and preserved verbal fluency on regular dopaminergic medication (8 women; mean age ± SD: 69...
2017: Frontiers in Human Neuroscience
https://www.readbyqxmd.com/read/28782968/the-longevity-of-statistical-learning-when-infant-memory-decays-isolated-words-come-to-the-rescue
#4
Ferhat Karaman, Jessica F Hay
Research over the past 2 decades has demonstrated that infants are equipped with remarkable computational abilities that allow them to find words in continuous speech. Infants can encode information about the transitional probability (TP) between syllables to segment words from artificial and natural languages. As previous research has tested infants immediately after familiarization, infants' ability to retain sequential statistics beyond the immediate familiarization context remains unknown. Here, we examine infants' memory for statistically defined words 10 min after familiarization with an Italian corpus...
August 7, 2017: Journal of Experimental Psychology. Learning, Memory, and Cognition
https://www.readbyqxmd.com/read/28777499/alg13-cdg-in-a-male-with-seizures-normal-cognitive-development-and-normal-transferrin-isoelectric-focusing
#5
Therese E Gadomski, Melody Bolton, Majid Alfadhel, Chris Dvorak, Olalekan A Ogunsakin, Stephen L Nelson, Eva Morava
ALG13-CDG has been recently discovered as a disorder of severe developmental, intellectual and speech disability, microcephaly, visual abnormalities, seizures, hepatomegaly, coagulation abnormalities, and abnormal serumtransferrin isoelectric focusing in serum. A male with seizures, delayed motor, and speech development, but normal cognition carried a hemizygous, predicted pathogenic ALG13 variant (p.E463G). N-glycosylation studies in plasma were normal. ICAM-1 expression was decreased in patient fibroblasts, supporting the variant's pathogenicity...
August 4, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28767196/two-unrelated-children-with-overlapping-6q25-3-deletions-motor-speech-disorders-and-language-delays
#6
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/28764418/localization-and-separation-of-acoustic-sources-by-using-a-2-5-dimensional-circular-microphone-array
#7
Mingsian R Bai, Chang-Sheng Lai, Po-Chen Wu
Circular microphone arrays (CMAs) are sufficient in many immersive audio applications because azimuthal angles of sources are considered more important than the elevation angles in those occasions. However, the fact that CMAs do not resolve the elevation angle well can be a limitation for some applications which involves three-dimensional sound images. This paper proposes a 2.5-dimensional (2.5-D) CMA comprised of a CMA and a vertical logarithmic-spacing linear array (LLA) on the top. In the localization stage, two delay-and-sum beamformers are applied to the CMA and the LLA, respectively...
July 2017: Journal of the Acoustical Society of America
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/28748485/early-onset-first-episode-psychosis-dimensional-structure-of-symptoms-clinical-subtypes-and-related-neurodevelopmental-markers
#9
Maria Giuseppina Petruzzelli, Lucia Margari, Andrea Bosco, Francesco Craig, Roberto Palumbi, Francesco Margari
Despite the growing interest in a dimensional approach to the assessment of symptoms and clinically relevant phenomena in schizophrenia spectrum disorders, very few studies, to date, have examined the dimensional structure of symptoms in early onset first episode psychosis. In the present study, we assessed a sample of 60 children and adolescents of both sexes with first episode schizophrenia spectrum psychosis. A principal component analysis (PCA) of the Positive and Negative Syndrome Scale (PANSS) was performed and the factors obtained were used to carry out a cluster analysis...
July 26, 2017: European Child & Adolescent Psychiatry
https://www.readbyqxmd.com/read/28745663/-differential-diagnosis-of-paroxysms-of-tonic-muscle-tension-in-children-of-early-age-with-delay-of-psychomotor-development-and-abnormal-neurologic-status
#10
M B Mironov, M Yu Bobylova, I V Nekrasova, T M Krasilschikova, M M Gunchenko, M N Sarzhina, A S Petrukhin, S G Burd, T T Batisheva
AIM: To study neurologic status, results of video-EEG monitoring and magnetic resonance imaging in children under 3 years old with paroxysms of tonic muscle tension. MATERIAL AND METHODS: One hundred and forty-six infants and young children with motor disturbances and different variants of clinically similar epileptic seizures, hyperkinesis and stereotypes were examined. RESULTS AND CONCLUSION: Cerebral palsy (91%), genetic and chromosomal abnormalities (6%), brain malformations (2%) were identified...
2017: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
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/28741729/influence-of-timing-of-delayed-hard-palate-closure-on-articulation-skills-in-3-year-old-danish-children-with-unilateral-cleft-lip-and-palate
#12
Elisabeth Willadsen, Maria Boers, Antje Schöps, Mia Kisling-Møller, Joan Bogh Nielsen, Line Dahl Jørgensen, Mikael Andersen, Stig Bolund, Helene Søgaard Andersen
BACKGROUND: Differing results regarding articulation skills in young children with cleft palate (CP) have been reported and often interpreted as a consequence of different surgical protocols. AIMS: To assess the influence of different timing of hard palate closure in a two-stage procedure on articulation skills in 3-year-olds born with unilateral cleft lip and palate (UCLP). Secondary aims were to compare results with peers without CP, and to investigate if there are gender differences in articulation skills...
July 25, 2017: International Journal of Language & Communication Disorders
https://www.readbyqxmd.com/read/28741408/appropriateness-of-tympanostomy-tubes-in-the-boston-metropolitan-area-are-the-aao-hnsf-guidelines-being-met
#13
Amy L Hughes, David Roberson, Cassandra Bannos, Emily K Trudell, Louis Vernacchio
Introduction Otitis media (OM) is the most common reason children receive general anesthesia, with bilateral tympanostomy tube (TT) insertion the second most common surgery in children. Prior research suggests overuse of TT. As part of a project designed to improve appropriateness of OM referrals, we evaluated appropriateness of TT insertion in a patient cohort. Methods Patients younger than 9 years with initial otolaryngology (ORL) visits in academic and private office settings for OM from January 1, 2012, to August 31, 2013, were identified through claims database...
July 1, 2017: Otolaryngology—Head and Neck Surgery
https://www.readbyqxmd.com/read/28736607/typical-versus-delayed-speech-onset-influences-verbal-reporting-of-autistic-interests
#14
Liliane Chiodo, Steve Majerus, Laurent Mottron
BACKGROUND: The distinction between autism and Asperger syndrome has been abandoned in the DSM-5. However, this clinical categorization largely overlaps with the presence or absence of a speech onset delay which is associated with clinical, cognitive, and neural differences. It is unknown whether these different speech development pathways and associated cognitive differences are involved in the heterogeneity of the restricted interests that characterize autistic adults. METHOD: This study tested the hypothesis that speech onset delay, or conversely, early mastery of speech, orients the nature and verbal reporting of adult autistic interests...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28736116/central-nervous-system-anomalies-in-craniofacial-microsomia-a-systematic-review
#15
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/28730641/basal-ganglia-and-autism-a-translational-perspective
#16
REVIEW
Krishna Subramanian, Cheryl Brandenburg, Fernanda Orsati, Jean-Jacques Soghomonian, John P Hussman, Gene J Blatt
The basal ganglia are a collection of nuclei below the cortical surface that are involved in both motor and non-motor functions, including higher order cognition, social interactions, speech, and repetitive behaviors. Motor development milestones that are delayed in autism such as gross motor, fine motor and walking can aid in early diagnosis of autism. Neuropathology and neuroimaging findings in autism cases revealed volumetric changes and altered cell density in select basal ganglia nuclei. Interestingly, in autism, both the basal ganglia and the cerebellum are impacted both in their motor and non-motor domains and recently, found to be connected via the pons through a short disynaptic pathway...
July 21, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28716980/early-dysphagia-screening-by-trained-nurses-reduces-pneumonia-rate-in-stroke-patients-a-clinical-intervention-study
#17
Christoph Palli, Simon Fandler, Kathrin Doppelhofer, Kurt Niederkorn, Christian Enzinger, Christian Vetta, Esther Trampusch, Reinhold Schmidt, Franz Fazekas, Thomas Gattringer
BACKGROUND AND PURPOSE: Dysphagia is a common stroke symptom and leads to serious complications such as aspiration and pneumonia. Early dysphagia screening can reduce these complications. In many hospitals, dysphagia screening is performed by speech-language therapists who are often not available on weekends/holidays, which results in delayed dysphagia assessment. METHODS: We trained the nurses of our neurological department to perform formal dysphagia screening in every acute stroke patient by using the Gugging Swallowing Screen...
July 17, 2017: Stroke; a Journal of Cerebral Circulation
https://www.readbyqxmd.com/read/28711739/homozygous-c-359del-variant-in-mgme1-is-associated-with-early-onset-cerebellar-ataxia
#18
Malavika Hebbar, Katta M Girisha, Anshika Srivastava, Stephanie Bielas, Anju Shukla
We ascertained a child with early onset cerebellar ataxia and identified a novel frameshift deletion, c.359del [p. (Pro120Leufs*2), NM_052865.2] in exon 2 of MGME1 (mitochondrial genome maintenance exonuclease 1) by exome sequencing. Variations in MGME1 have been reported to cause mitochondrial DNA (mtDNA) depletion syndrome 11 (MIM #615084) in an earlier work. The phenotype included progressive external ophthalmoplegia, emaciation, respiratory failure and late onset progressive ataxia. However, the child presented here has early onset progressive ataxia, speech delay, microcephaly, cerebellar atrophy and fundus albipunctatus...
July 12, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28693120/clinical-evaluation-and-mutational-analysis-of-galk-and-gale-genes-in-patients-with-galactosemia-in-greece-one-novel-mutation-and-two-rare-cases
#19
Kleopatra H Schulpis, Georgia Thodi, Konstantinos Iakovou, Maria Chatzidaki, Yannis Dotsikas, Elina Molou, Olga Triantafylli, Yannis L Loukas
BACKGROUND: Deficiencies of galactokinase (GALK) and UDP-epimerase (GALE) are implicated with galactose metabolic disorders. The aim of the study was the identification of mutations in GALK and GALE genes and clinical evaluation of patients. METHODS: Five patients with GALK and five with GALE deficiency were picked up via the Neonatal Screening Program. Additionally, two females, 4 years old, were referred with late diagnosed galactosemia, as rare cases. Mutational analysis was conducted via Sanger sequencing, while in silico analysis tools were utilized for the novel mutation...
June 24, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28692176/phenotypic-spectrum-associated-with-de-novo-mutations-in-qrich1-gene
#20
Athina Ververi, Miranda Splitt, John Dean, Angela Brady
Rare de novo mutations represent a significant cause of idiopathic developmental delay. The use of NGS has boosted the identification of de novo mutations in an increasing number of novel genes. Here we present three unrelated children with de novo LoF mutations in QRICH1, diagnosed through trio exome sequencing. QRICH1 encodes the glutamine-rich protein 1, which contains one Caspase Activation Recruitment Domain and is likely to be involved in apoptosis and inflammation. All three children had speech delay, learning difficulties, a prominent nose and a thin upper lip...
July 10, 2017: Clinical Genetics
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