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https://www.readbyqxmd.com/read/29034068/clinical-phenotype-of-asd-associated-dyrk1a-haploinsufficiency
#1
Rachel K Earl, Tychele N Turner, Heather C Mefford, Caitlin M Hudac, Jennifer Gerdts, Evan E Eichler, Raphael A Bernier
BACKGROUND: DYRK1A is a gene recurrently disrupted in 0.1-0.5% of the ASD population. A growing number of case reports with DYRK1A haploinsufficiency exhibit common phenotypic features including microcephaly, intellectual disability, speech delay, and facial dysmorphisms. METHODS: Phenotypic information from previously published DYRK1A cases (n = 51) and participants in an ongoing study at the University of Washington (UW, n = 10) were compiled. Frequencies of recurrent phenotypic features in this population were compared to features observed in a large sample with idiopathic ASD from the Simons Simplex Collection (n = 1981)...
2017: Molecular Autism
https://www.readbyqxmd.com/read/29031008/identification-of-a-novel-homozygous-trappc9-gene-mutation-causing-non-syndromic-intellectual-disability-speech-disorder-and-secondary-microcephaly
#2
Ansar A Abbasi, Kathrin Blaesius, Hao Hu, Zahid Latif, Sylvie Picker-Minh, Muhammad N Khan, Sundas Farooq, Muzammil A Khan, Angela M Kaindl
TRAPPC9 gene mutations have been linked recently to autosomal recessive mental retardation 13 (MRT13; MIM#613192) with only eight families reported world-wide. We assessed patients from two consanguineous pedigrees of Pakistani descent with non-syndromic intellectual disability and postnatal microcephaly through whole exome sequencing (WES) and cosegregation analysis. Here we report six further patients from two pedigrees with homozygous TRAPPC9 gene mutations, the novel nonsense mutation c.2065G>T (p.E689*) and the previously identified nonsense mutation c...
October 14, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/29024793/sensorimotor-impairment-of-speech-auditory-feedback-processing-in-aphasia
#3
Roozbeh Behroozmand, Lorelei Phillip, Karim Johari, Leonardo Bonilha, Chris Rorden, Gregory Hickok, Julius Fridriksson
We investigated the brain network involved in speech sensorimotor processing by studying patients with post-stroke aphasia using an altered auditory feedback (AAF) paradigm. We combined lesion-symptom-mapping analysis and behavioral testing to examine the pervasiveness of speech sensorimotor deficits and their relationship with cortical damage. Sixteen participants with aphasia and sixteen neurologically intact individuals completed a speech task under AAF. The task involved producing speech vowel sounds under the real-time pitch-shifted auditory feedback alteration...
October 9, 2017: NeuroImage
https://www.readbyqxmd.com/read/29018336/encoding-and-decoding-models-in-cognitive-electrophysiology
#4
REVIEW
Christopher R Holdgraf, Jochem W Rieger, Cristiano Micheli, Stephanie Martin, Robert T Knight, Frederic E Theunissen
Cognitive neuroscience has seen rapid growth in the size and complexity of data recorded from the human brain as well as in the computational tools available to analyze this data. This data explosion has resulted in an increased use of multivariate, model-based methods for asking neuroscience questions, allowing scientists to investigate multiple hypotheses with a single dataset, to use complex, time-varying stimuli, and to study the human brain under more naturalistic conditions. These tools come in the form of "Encoding" models, in which stimulus features are used to model brain activity, and "Decoding" models, in which neural features are used to generated a stimulus output...
2017: Frontiers in Systems Neuroscience
https://www.readbyqxmd.com/read/29016856/neuronal-overexpression-of-ube3a-isoform-2-causes-behavioral-impairments-and-neuroanatomical-pathology-relevant-to-15q11-2-q13-3-duplication-syndrome
#5
Nycole A Copping, Sarah G B Christian, Dylan J Ritter, M Saharul Islam, Nathalie Buscher, Dorota Zolkowska, Michael C Pride, Elizabeth L Berg, Janine M LaSalle, Jacob Ellegood, Jason P Lerch, Lawrence T Reiter, Jill L Silverman, Scott V Dindot
Maternally derived copy number gains of human chromosome 15q11.2-q13.3 (Dup15q syndrome or Dup15q) cause intellectual disability, epilepsy, developmental delay, hypotonia, speech impairments, and minor dysmorphic features. Dup15q syndrome is one of the most common and penetrant chromosomal abnormalities observed in individuals with autism spectrum disorder (ASD). Although ∼40 genes are located in the 15q11.2-q13.3 region, overexpression of the ubiquitin-protein E3A ligase (UBE3A) gene is thought to be the predominant molecular cause of the phenotypes observed in Dup15q syndrome...
October 15, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28992603/sex-steroid-hormones-and-sex-hormone-binding-globulin-levels-cyp17-msp-ai-34t-c-and-cyp19-codon-39-trp-arg-variants-in-children-with-developmental-stuttering
#6
Hiwa Mohammadi, Mohammad Taghi Joghataei, Zohreh Rahimi, Faezeh Faghihi, Habibolah Khazaie, Hashem Farhangdoost, Masoud Mehrpour
Developmental stuttering is known to be a sexually dimorphic and male-biased speech motor control disorder. In the present case-control study, we investigated the relationship between developmental stuttering and steroid hormones. Serum levels of testosterone, dihydrotestosterone (DHT), dehydroepiandrosterone (DHEA), oestradiol, progesterone, cortisol, and sex hormone binding globulin (SHBG), as well as the 2nd/4th digit ratio (2D:4D), an indicator of prenatal testosterone level, were compared between children who stutter (CWS) and children who do not stutter (CWNS)...
October 6, 2017: Brain and Language
https://www.readbyqxmd.com/read/28990181/long-term-impairment-attributable-to-congenital-cytomegalovirus-infection-a-retrospective-cohort-study
#7
Marjolein J Korndewal, Anne Marie Oudesluys-Murphy, Aloys C M Kroes, Marianne A B van der Sande, Hester E de Melker, Ann C T M Vossen
AIM: This study aimed to estimate long-term impairment attributable to congenital cytomegalovirus infection (cCMV). METHOD: This nationwide cohort study retrospectively assessed cCMV in children born in 2008 in the Netherlands, testing 31 484 stored neonatal dried blood spots. Extensive medical data of cCMV-positive children (n=133) and matched cCMV-negative comparison children (n=274) up to 6 years of age were analysed. RESULTS: Moderate to severe long-term impairment was diagnosed in 24...
October 9, 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/28989044/preoperative-navigated-transcranial-magnetic-stimulation-and-tractography-to-guide-endoscopic-cystoventriculostomy-a-technical-note-and-case-report
#8
Philipp Hendrix, Sebastian Senger, Christoph J Griessenauer, Andreas Simgen, Stefan Linsler, Joachim Oertel
OBJECTIVE: To report a technique for endoscopic cystoventriculostomy guided by preoperative navigated transcranial magnetic stimulation (nTMS) and tractography in a patient suffering from a large speech eloquent arachnoid cyst. METHODS: A 74-year old woman presented with a seizure and subsequent persistent anomic aphasia from a progressive left-sided parietal arachnoid cyst. An endoscopic cystoventriculostomy and endoscope-assisted ventricle catheter placement were performed...
October 5, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28986415/clinical-outcomes-of-asleep-vs-awake-deep-brain-stimulation-for-parkinson-disease
#9
Matthew A Brodsky, Shannon Anderson, Charles Murchison, Mara Seier, Jennifer Wilhelm, Aaron Vederman, Kim J Burchiel
OBJECTIVE: To compare motor and nonmotor outcomes at 6 months of asleep deep brain stimulation (DBS) for Parkinson disease (PD) using intraoperative imaging guidance to confirm electrode placement vs awake DBS using microelectrode recording to confirm electrode placement. METHODS: DBS candidates with PD referred to Oregon Health & Science University underwent asleep DBS with imaging guidance. Six-month outcomes were compared to those of patients who previously underwent awake DBS by the same surgeon and center...
October 6, 2017: Neurology
https://www.readbyqxmd.com/read/28984349/quality-of-life-and-comorbidities-associated-with-dravet-syndrome-severity-a-multinational-cohort-survey
#10
Lieven Lagae, Isabella Brambilla, Ana Mingorance, Eddie Gibson, Alysia Battersby
AIM: To test the hypothesis that higher seizure burden in Dravet syndrome is associated with increased comorbidities and lower quality of life (QoL) in a large cohort of patients with Dravet syndrome and their caregivers in Europe. METHOD: An extensive survey of caregivers of patients with Dravet syndrome on experiences of diagnosis, seizure burden, management, social and financial impact, and health services use was administered online in 10 languages. RESULTS: The survey received 584 unique responses from caregivers of paediatric (83%) and adult (17%) patients with Dravet syndrome (aged <1-48y)...
October 6, 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/28981448/asynchronous-brain-computer-interface-for-cognitive-assessment-in-people-with-cerebral-palsy
#11
R E Alcaide-Aguirre, S A Warschausky, D Brown, A Aref, J E Huggins
OBJECTIVE: Typically, clinical measures of cognition require motor or speech responses. Thus, a significant percentage of people with disabilities are not able to complete standardized assessments. This situation could be resolved by employing a more accessible test administration method, such as a brain-computer interface (BCI). A BCI can circumvent motor and speech requirements by translating brain activity to identify a subject's response. By eliminating the need for motor or speech input, one could use a BCI to assess an individual who previously did not have access to clinical tests...
October 5, 2017: Journal of Neural Engineering
https://www.readbyqxmd.com/read/28980624/amyotrophic-lateral-sclerosis
#12
REVIEW
Orla Hardiman, Ammar Al-Chalabi, Adriano Chio, Emma M Corr, Giancarlo Logroscino, Wim Robberecht, Pamela J Shaw, Zachary Simmons, Leonard H van den Berg
Amyotrophic lateral sclerosis (ALS), also known as motor neuron disease, is characterized by the degeneration of both upper and lower motor neurons, which leads to muscle weakness and eventual paralysis. Until recently, ALS was classified primarily within the neuromuscular domain, although new imaging and neuropathological data have indicated the involvement of the non-motor neuraxis in disease pathology. In most patients, the mechanisms underlying the development of ALS are poorly understood, although a subset of patients have familial disease and harbour mutations in genes that have various roles in neuronal function...
October 5, 2017: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/28970040/-the-private-pediatrician-in-the-clinical-care-pathway-for-children-affected-by-specific-learning-disorders-in-france
#13
T-N Willig, J P Blanc, R Assathiany
The clinical care pathway for children presenting specific learning disorders, including language, motor coordination, and attention disorders is based on different levels of assessment by the professionals involved. In France, a first step of organization was established in 2002 by founding of a network of structures devoted to clinical assessment of complex cases, research, and teaching for the professionals involved. Although this organization proved to contribute an essential service, the demand largely exceeded the availability of access...
September 29, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28969489/this-time-it-s-personal-the-memory-benefit-of-hearing-oneself
#14
Noah D Forrin, Colin M MacLeod
The production effect is the memory advantage of saying words aloud over simply reading them silently. It has been hypothesised that this advantage stems from production featuring distinctive information that stands out at study relative to reading silently. MacLeod (2011) (I said, you said: The production effect gets personal. Psychonomic Bulletin & Review, 18, 1197-1202. doi: 10.3758/s13423-011-0168-8 ) found superior memory for reading aloud oneself vs. hearing another person read aloud, which suggests that motor information (speaking), self-referential information (i...
October 2, 2017: Memory
https://www.readbyqxmd.com/read/28967231/congenital-anomalies-and-the-severity-of-impairments-for-cerebral-palsy
#15
Kjersti P Jystad, Kristin M Strand, Solveig Bjellmo, Stian Lydersen, Kari Klungsöyr, Magne Stoknes, Jon Skranes, Guro L Andersen, Torstein Vik
AIM: To study the prevalence of congenital anomalies among children with cerebral palsy (CP) born at term or late preterm, and if CP subtypes and clinical manifestations differ between children with and without congenital anomalies. METHOD: This was a cross-sectional study using data from the Cerebral Palsy Register of Norway and the Medical Birth Registry of Norway. All children with congenital CP born at and later than 34 weeks' gestation in Norway from 1999 to 2009 were included...
October 2, 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/28963436/novel-nr2f1-variants-likely-disrupt-dna-binding-molecular-modeling-in-two-cases-review-of-published-cases-genotype-phenotype-correlation-and-phenotypic-expansion-of-the-bosch-boonstra-schaaf-optic-atrophy-syndrome
#16
Charu Kaiwar, Michael T Zimmerman, Matthew J Ferber, Zhiyv Niu, Raul A Urrutia, Eric W Klee, Dusica Babovic-Vuksanovic
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome (BBSOAS) is a recently described autosomal dominant disorder caused by mutations in NR2F1 gene. There are presently 28 cases of BBSOAS described in the literature. Its common features include developmental delay, intellectual disability, hypotonia, optic nerve atrophy, attention deficit disorder, autism spectrum disorder, seizures, hearing defects, spasticity and thinning of the corpus callosum. Here we report two unrelated probands with novel, de novo, missense variants in NR2F1 The first is a 14-year-old male patient with hypotonia, intellectual disability, optic nerve hypoplasia, delayed bone age, short stature, and altered neurotransmitter levels on CSF testing...
September 28, 2017: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/28960836/bcl11a-frameshift-mutation-associated-with-dyspraxia-and-hypotonia-affecting-the-fine-gross-oral-and-speech-motor-systems
#17
Julie Soblet, Ivan Dimov, Clemens Graf von Kalckreuth, Julie Cano-Chervel, Simon Baijot, Karin Pelc, Martine Sottiaux, Catheline Vilain, Guillaume Smits, Nicolas Deconinck
We report the case of a 7-year-old male of Western European origin presenting with moderate intellectual disability, severe childhood apraxia of speech in the presence of oral and manual dyspraxia, and hypotonia across motor systems including the oral and speech motor systems. Exome sequencing revealed a de novo frameshift protein truncating mutation in the fourth exon of BCL11A, a gene recently demonstrated as being involved in cognition and language development. Making parallels with a previously described patient with a 200 kb 2p15p16...
September 27, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28955431/challenges-of-stroke-management-in-resource-limited-settings-a-case-based-reflection
#18
Yohane G Gadama, Gloria Mwangalika, Louis B Kinley, Beth Jackson, Henry C Mwandumba, Jane Mallewa, Tom Solomon, Rob Simister, Laura A Benjamin, Maria I Vargas, Joseph Kamtchum-Tatuene, Tamara Phiri
A 19-year-old man presented with a 1-year history of headache, generalised body weakness, progressive memory loss, and disorientation. One month prior to admission, there was aggravation of the weakness of the right upper limb, with new-onset difficulty with mastication, speech impairment, apathy, and urinary incontinence. On clinical examination, the patient had a motor aphasia and a right-sided hemiparesis with increased muscle tone and hyperreflexia. A noncontrast computed tomography (CT) scan of the brain revealed large ischaemic strokes extending beyond the classical vascular territories...
June 2017: Malawi Medical Journal: the Journal of Medical Association of Malawi
https://www.readbyqxmd.com/read/28951450/top-down-modulation-of-auditory-motor-integration-during-speech-production-the-role-of-working-memory
#19
Zhiqiang Guo, Xiuqin Wu, Weifeng Li, Jeffery A Jones, Nan Yan, Stanley Sheft, Peng Liu, Hanjun Liu
Although working memory (WM) is considered as an emergent property of the speech perception and production systems, the role of WM in sensorimotor integration during speech processing is largely unknown. We conducted two event-related potential experiments with female and male young adults to investigate the contribution of WM to the neurobehavioural processing of altered auditory feedback during vocal production. A delayed match-to-sample task that required participants to indicate whether the pitch feedback perturbations they heard during vocalizations in test and sample sequences matched, elicited significantly larger vocal compensations, larger N1 responses in the left middle and superior temporal gyrus, and smaller P2 responses in the left middle and superior temporal gyrus, inferior parietal lobule, somatosensory cortex, right inferior frontal gyrus and insula as compared to a control task that did not require memory retention of the sequence of pitch perturbations...
September 26, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28951142/cognitive-deficit-in-patients-with-paranoid-schizophrenia-its-clinical-and-laboratory-correlates
#20
Mariia Dorofeikova, Nikolay Neznanov, Nataliia Petrova
The aim of this study was to search for correlates of cognitive impairment in patients with paranoid schizophrenia among clinical, demographic, anamnestic and biochemical markers (NSE, S100B protein, BDNF, hs-CRP). Patients with paranoid schizophrenia (n=125) were examined using the Brief Assessment of Cognitive Function in Schizophrenia, the Rey-Osterrieth Complex Figure task, and a number of clinical scales including the Positive and Negative Syndrome Scale. The majority of patients demonstrated cognitive impairment...
September 20, 2017: Psychiatry Research
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