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Speech pathology

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https://www.readbyqxmd.com/read/29031008/identification-of-a-novel-homozygous-trappc9-gene-mutation-causing-non-syndromic-intellectual-disability-speech-disorder-and-secondary-microcephaly
#1
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/29023293/form-function-and-esthetics-in-prosthetically-rehabilitated-maxillary-defects
#2
Manish Mittal, Rohit Sharma, Ashish Kalra, Parvinder Sharma
PURPOSE: Patients with maxillofacial defects secondary to the removal of benign and malignant pathologies of midface have a profound impact on quality of life. The aim of this study was to collect and analyze the data pertaining to 4 designs of obturator by assessment of the patient with obturator functioning scale (OFS) MATERIALS AND METHODS:: This retrospective analysis included all the patients who underwent prosthetic rehabilitation of maxillary defects using 4 different types (conventional, cast partial, hollow bulb, and magnet retained) of obturators from 2009 to 2016 with minimum 1 year of follow up...
October 11, 2017: Journal of Craniofacial Surgery
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
#3
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/28989049/individual-variability-of-the-human-cerebral-cortex-identified-using-intraoperative-mapping
#4
Johan Pallud, Marc Zanello, Grégory Kuchcinski, Alexandre Roux, Jun Muto, Charles Mellerio, Edouard Dezamis, Catherine Oppenheim
BACKGROUND: The intraoperative functional cortical mapping using direct electrical stimulation may show a wider individual variability than those suggested by non-invasive imaging data on healthy subjects. METHODS: We assessed the intraoperative variability of the frontal eye fields and of the speech arrest sites in adult patients having undergone a wide-awake craniotomy with direct electrostimulation for diffuse gliomas located within eloquent regions and we compared with the human cortical parcellation of the Human Connectome Project (Glasser, Nature, 2016)...
October 5, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28987044/-application-of-brain-boy-universal-professional-in-preliminary-assessment-of-auditory-processing-disorder
#5
Joanna Rutkowska, Anna Łobaczuk-Sitnik, Bożena Kosztyła-Hojna
Increasing numbers of hearing pathology is auditory processing disorders. Auditory Processing Disorders (APD) are defined as difficulty in using auditory information to communicate and learn in the presence of normal peripheral hearing. It may be recognized as a problem with understanding of speech in noise and perception disorder of distorted speech. APD may accompany to articulation disorders, language problems and difficulties in reading and writing. The diagnosis of auditory processing disorders causes many difficulties primarily due to the lack of common testing procedures, precise criteria for qualification to the group of norm and pathology...
September 29, 2017: Polski Merkuriusz Lekarski: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/28983422/speech-language-pathology-evaluation-and-management-of-hyperkinetic-disorders-affecting-speech-and-swallowing-function
#6
REVIEW
Julie M Barkmeier-Kraemer, Heather M Clark
BACKGROUND: Hyperkinetic dysarthria is characterized by abnormal involuntary movements affecting respiratory, phonatory, and articulatory structures impacting speech and deglutition. Speech-language pathologists (SLPs) play an important role in the evaluation and management of dysarthria and dysphagia. This review describes the standard clinical evaluation and treatment approaches by SLPs for addressing impaired speech and deglutition in specific hyperkinetic dysarthria populations. METHODS: A literature review was conducted using the data sources of PubMed, Cochrane Library, and Google Scholar...
2017: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/28980624/amyotrophic-lateral-sclerosis
#7
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/28970792/parkinson-disease-detection-from-speech-articulation-neuromechanics
#8
Pedro Gómez-Vilda, Jiri Mekyska, José M Ferrández, Daniel Palacios-Alonso, Andrés Gómez-Rodellar, Victoria Rodellar-Biarge, Zoltan Galaz, Zdenek Smekal, Ilona Eliasova, Milena Kostalova, Irena Rektorova
Aim: The research described is intended to give a description of articulation dynamics as a correlate of the kinematic behavior of the jaw-tongue biomechanical system, encoded as a probability distribution of an absolute joint velocity. This distribution may be used in detecting and grading speech from patients affected by neurodegenerative illnesses, as Parkinson Disease. Hypothesis: The work hypothesis is that the probability density function of the absolute joint velocity includes information on the stability of phonation when applied to sustained vowels, as well as on fluency if applied to connected speech...
2017: Frontiers in Neuroinformatics
https://www.readbyqxmd.com/read/28963804/cost-analysis-of-a-speech-pathology-synchronous-telepractice-service-for-patients-with-head-and-neck-cancer
#9
Clare L Burns, Sanjeewa Kularatna, Elizabeth C Ward, Anne J Hill, Joshua Byrnes, Lizbeth M Kenny
BACKGROUND: The purpose of this study is to report the economic outcomes of a new synchronous telepractice service providing speech pathology intervention to patients with head and neck cancer at nonmetropolitan facilities. METHODS: A multisite randomized controlled trial comparing standard care versus a new synchronous telepractice model was conducted within a large Australian public cancer service. Data pertaining to health service costs (staff wages, equipment, and patient travel reimbursement), patient +/- carer costs (travel and wages), and patient-reported quality of life (Assessment of Quality of Life questionnaire 4D) were collected...
September 30, 2017: Head & Neck
https://www.readbyqxmd.com/read/28952361/implementation-of-an-extended-scope-of-practice-speech-language-pathology-allied-health-practitioner-service-an-evaluation-of-service-impacts-and-outcomes
#10
Marnie Seabrook, Maria Schwarz, Elizabeth C Ward, Bernard Whitfield
PURPOSE: Extended scope of practice roles can address health service challenges and enhance patient services; however there has been limited research of extended scope roles in the discipline of speech-language pathology (SLP). The aim of this study was to examine the clinical outcomes and service impacts of a Speech-Language Pathology Allied Health Practitioner (SLP AHP) led dysphagia and dysphonia service within an Integrated Specialist Ear Nose and Throat (ENT) Service. METHOD: Low risk referrals were triaged by ENT from the waiting list into the SLP AHP dysphagia and dysphonia clinic...
September 27, 2017: International Journal of Speech-language Pathology
https://www.readbyqxmd.com/read/28949263/reference-values-of-maximum-performance-tests-of-speech-production
#11
Simone Knuijt, Johanna Kalf, Baziel Van Engelen, Alexander Geurts, Bert de Swart
PURPOSE: Maximum performance tests examine upper limits of speech motor performance, as used by speech-language pathologists in dysarthria assessment protocols. The Radboud Dysarthria Assessment includes maximum repetition rate, maximum phonation time, fundamental frequency range and maximum phonation volume to assist in detecting pathological performance. This study aims to obtain reference values for each of these tests. METHOD: A group of 224 healthy Dutch adults aged 18-80 years performed the maximum performance tests...
September 26, 2017: International Journal of Speech-language Pathology
https://www.readbyqxmd.com/read/28947117/making-a-measurable-difference-in-advanced-huntington-disease-care
#12
Carol Brown Moskowitz, Ashwini K Rao
Neurologists' role in the care of people with advanced Huntington disease (HD) (total functional capacity <7), often limited by a lack of clinical research to support good practice, includes the following: (1) provide comprehensive health records to an interdisciplinary care staff before admission to a more intense care setting (home health services, day program, assisted living, group home, long-term skilled nursing facility, palliative care); (2) consult with and refer to rehabilitation (occupational therapy, physical therapy, speech and language pathology), behavioral and psychiatric professionals for problem-solving strategies, which must be reviewed with direct care staff before implementation; (3) encourage and support qualitative and quantitative interdisciplinary research studies, and randomized controlled studies of nonpharmacologic interventions; and (4) assist in the development of meaningful measures to further document what works to provide a good quality of life for the patient and family and a comfortable thoughtful approach to a good death...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28945465/language-and-cognitive-communication-disorder-during-post-traumatic-amnesia-profiles-of-recovery-after-tbi-from-three-cases
#13
Joanne Steel, Alison Ferguson, Elizabeth Spencer, Leanne Togher
BACKGROUND: There has been limited empirical speech-language pathology (SLP) study of language and cognitive communication during post-traumatic amnesia (PTA) and the early stages after TBI. The purpose of the current research was to explore the potential means and utility of assessing cognitive communication during PTA and the post-acute recovery period. METHOD: This research used a longitudinal mixed methods design to describe language and cognitive communication assessment and recovery profiles of three patients with TBI...
September 25, 2017: Brain Injury: [BI]
https://www.readbyqxmd.com/read/28932903/a-survey-of-australian-dysphagia-practice-patterns
#14
Anna Rumbach, Caitlin Coombes, Sebastian Doeltgen
Dysphagia assessment and rehabilitation practice is complex, and significant variability in speech-language pathology approaches has been documented internationally. The aim of this study was to evaluate swallowing-related assessment and rehabilitation practices of SLPs currently working in Australia. One hundred and fifty-four SLPs completed an online questionnaire administered via QuickSurveys from May to July 2015. Results were analysed descriptively. The majority of clinicians had accessed post-graduate training in dysphagia management and assessment (66...
September 20, 2017: Dysphagia
https://www.readbyqxmd.com/read/28925287/assessing-and-developing-the-written-reflective-practice-skills-of-speech-language-pathology-students
#15
Kate Cook, Gina Tillard, Christine Wyles, Daniel Gerhard, Tika Ormond, Megan McAuliffe
PURPOSE: Written reflective practice aims to support critical thinking and problem solving skills in speech-language pathology (SLP) clinical education programmes. Yet, there has been limited investigation of students' development of written reflective practice skills over time and during a real-time clinical experience. The purpose of this study was to investigate students' development of breadth and depth of written reflective practice across a six-week clinical experience. METHOD: Participants were 59 undergraduate and 14 postgraduate SLP students...
September 19, 2017: International Journal of Speech-language Pathology
https://www.readbyqxmd.com/read/28920522/constraint-and-multimodal-approaches-to-therapy-for-chronic-aphasia-a-systematic-review-and-meta-analysis
#16
John E Pierce, Maya Menahemi-Falkov, Robyn O'Halloran, Leanne Togher, Miranda L Rose
Aphasia is a significant cause of disability and reduced quality of life. Two speech pathology treatment approaches appear efficacious: multimodal and constraint-induced aphasia therapies. In constraint-induced therapies, non-verbal actions (e.g., gesture, drawing) are believed to interfere with treatment and patients are therefore constrained to speech. In contrast, multimodal therapies employ non-verbal modalities to cue word retrieval. Given the clinical and theoretical implications, a comparison of these two divergent treatments was pursued...
September 18, 2017: Neuropsychological Rehabilitation
https://www.readbyqxmd.com/read/28918643/speech-language-pathology-telehealth-in-rural-and-remote-schools-the-experience-of-school-executive-and-therapy-assistants
#17
Glenn C Fairweather, Michelle A Lincoln, Robyn Ramsden
INTRODUCTION: Difficulties in accessing allied health services, especially in rural and remote areas, appear to be driving the use of telehealth services to children in schools. The objectives of this study were to investigate the experiences and views of school executive staff and therapy assistants regarding the feasibility and acceptability of a speech-language pathology telehealth program for children attending schools in rural and remote New South Wales, Australia. The program, called Come N See, provided therapy interventions remotely via low-bandwidth videoconferencing, with email follow-up...
July 2017: Rural and Remote Health
https://www.readbyqxmd.com/read/28918504/autism-spectrum-disorders-and-disease-modeling-using-stem-cells
#18
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/28912200/development-and-validation-of-electronic-quality-measures-to-assess-care-for-patients-with-transient-ischemic-attack-and-minor-ischemic-stroke
#19
Dawn M Bravata, Laura J Myers, Eric Cheng, Mathew Reeves, Fitsum Baye, Zhangsheng Yu, Teresa Damush, Edward J Miech, Jason Sico, Michael Phipps, Alan Zillich, Jason Johanning, Seemant Chaturvedi, Curt Austin, Jared Ferguson, Bailey Maryfield, Kathy Snow, Susan Ofner, Glenn Graham, Rachel Rhude, Linda S Williams, Greg Arling
BACKGROUND: Despite interest in using electronic health record (EHR) data to assess quality of care, the accuracy of such data is largely unknown. We sought to develop and validate transient ischemic attack and minor ischemic stroke electronic quality measures (eQMs) using EHR data. METHODS AND RESULTS: A random sample of patients with transient ischemic attack or minor ischemic stroke, cared for in Veterans Health Administration facilities (fiscal year 2011), was identified...
September 2017: Circulation. Cardiovascular Quality and Outcomes
https://www.readbyqxmd.com/read/28886357/a-retrospective-volume-matched-analysis-of-the-submental-artery-island-pedicled-flap-as-compared-to-the-forearm-free-flap-is-it-a-good-alternative-choice-for-the-reconstruction-of-defects-of-the-oral-cavity-and-oropharynx
#20
Nawaf Aslam-Pervez, Steven J Caldroney, Amal Isaiah, Joshua E Lubek
PURPOSE: The submental artery island pedicled flap (SMIF) is an underused alternative for reconstruction of head and neck defects after tumor ablation. The purpose of this study was to perform a comparative evaluation of reconstructive outcomes based on surgical site and ablative defect volume in patients who underwent reconstruction with the SMIF versus the forearm free flap (FFF). MATERIALS AND METHODS: A retrospective cohort study of all patients with oral cavity and oropharyngeal defects reconstructed with the SMIF and a cohort of patients with similar volume defects reconstructed with the FFF were compared for oncologic safety and viability of equivalent reconstructive outcomes...
August 12, 2017: Journal of Oral and Maxillofacial Surgery
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