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Speech disorders

Thomas J Hoffmann, Bronya J Keats, Noriko Yoshikawa, Catherine Schaefer, Neil Risch, Lawrence R Lustig
Age-related hearing impairment (ARHI), one of the most common sensory disorders, can be mitigated, but not cured or eliminated. To identify genetic influences underlying ARHI, we conducted a genome-wide association study of ARHI in 6,527 cases and 45,882 controls among the non-Hispanic whites from the Genetic Epidemiology Research on Adult Health and Aging (GERA) cohort. We identified two novel genome-wide significant SNPs: rs4932196 (odds ratio = 1.185, p = 4.0x10-11), 52Kb 3' of ISG20, which replicated in a meta-analysis of the other GERA race/ethnicity groups (1,025 cases, 12,388 controls, p = 0...
October 2016: PLoS Genetics
Jijo Pottackal Mathai, Asha Yathiraj
OBJECTIVES: The purpose of the study was to explore the effect of intensity on speech perception in individuals with late-onset auditory neuropathy spectrum disorder (ANSD) by obtaining their performance-intensity (PI) function. Additionally, the study investigated the effect of PI function on aided speech perception. It was hypothesized that speech perception abilities of individuals with ANSD vary with intensity and may provide information regarding their aided performance. DESIGN: A factorial research design was used to obtain the PI function and aided performance...
October 13, 2016: Ear and Hearing
Shiny Thomas, Mary E Hovinga, Dheeraj Rai, Brian K Lee
Epilepsy is reported to co-occur in individuals with autism spectrum disorder (ASD). Previous studies across the world have found prevalence estimates ranging from 4 to 38 %. We examined parent-reported prevalence of co-occurring epilepsy and ASD in the most recent U.S. National Survey of Children's Health, 2011-2012. All analyses accounted for survey weights to account for the complex sampling design. In the overall analytic sample of 85,248 children ages 2-17, there were 1604 children with ASD (prevalence of 1...
October 17, 2016: Journal of Autism and Developmental Disorders
Anthony R Mawson, Nola T Radford, Binu Jacob
Stuttering affects about 1% of the general population and from 8 to 11% of children. The onset of persistent developmental stuttering (PDS) typically occurs between 2 and 4 years of age. The etiology of stuttering is unknown and a unifying hypothesis is lacking. Clues to the pathogenesis of stuttering include the following observations: PDS is associated with adverse perinatal outcomes and birth-associated trauma; stuttering can recur or develop in adulthood following traumatic events such as brain injury and stroke; PDS is associated with structural and functional abnormalities in the brain associated with speech and language; and stuttering resolves spontaneously in a high percentage of affected children...
October 18, 2016: European Neurology
Hanna Mandel, Morad Khayat, Elana Chervinsky, Orly Elpeleg, Stavit Shalev
There is a significant level of genetic heterogeneity underlying the phenotype of nonspecific hypotonia with severe intellectual disability. Exome sequencing has proven to be a powerful tool for identifying the underlying molecular basis of such nonspecific, abnormal neurological phenotypes. Mutations in the TBCK gene have been reported associated with very poor, if any, psychomotor development, poor speech, and inability to walk independently. We describe the long-term phenotypic evolution of a severe nonspecific neurodevelopmental disorder in two siblings born to an Arab-Moslem family living in northern Israel...
October 17, 2016: American Journal of Medical Genetics. Part A
Joe Bathelt, Duncan Astle, Jessica Barnes, F Lucy Raymond, Kate Baker
Childhood speech and language deficits are highly prevalent and are a common feature of neurodevelopmental disorders. However, it is difficult to investigate the underlying causal pathways because many diagnostic groups have a heterogeneous aetiology. Studying disorders with a shared genetic cause and shared cognitive deficits can provide crucial insight into the cellular mechanisms and neural systems that give rise to those impairments. The current study investigated structural brain differences of individuals with mutations in ZDHHC9, which is associated with a specific neurodevelopmental phenotype including prominent speech and language impairments and intellectual disability...
2016: NeuroImage: Clinical
Zulfiqar Ali, Mansour Alsulaiman, Ghulam Muhammad, Irraivan Elamvazuthi, Ahmed Al-Nasheri, Tamer A Mesallam, Mohamed Farahat, Khalid H Malki
A large population around the world has voice complications. Various approaches for subjective and objective evaluations have been suggested in the literature. The subjective approach strongly depends on the experience and area of expertise of a clinician, and human error cannot be neglected. On the other hand, the objective or automatic approach is noninvasive. Automatic developed systems can provide complementary information that may be helpful for a clinician in the early screening of a voice disorder. At the same time, automatic systems can be deployed in remote areas where a general practitioner can use them and may refer the patient to a specialist to avoid complications that may be life threatening...
October 10, 2016: Journal of Voice: Official Journal of the Voice Foundation
Dongzhu Lei, Shaoyuan Li, Santasree Banerjee, Haoqing Zhang, Caiyun Li, Shuai Hou, Danjing Chen, Haiying Yan, Hanmei Li, Huan Huan Peng, Saijun Liu, Xinxin Zhang, Zhiyu Peng, Jian Wang, Huanming Yang, Hui Huang, Jing Wu
Phelan-McDermid syndrome is a neurodevelopmental disorder caused by the terminal deletion of chromosome 22 (22q13) followed by the loss of function of the SHANK3 gene. Various terminal deletions of chromosome 22q13 are associated with Phelan-McDermid with a spectrum of phenotypic severity. Here, we have done a clinical molecular study of a Chinese proband with Phelan-McDermid syndrome. Both the proband and her younger brother are associated with this syndrome while their parents are phenotypically normal. We used a karyotype in order to detect the genotype of the proband and her younger brother...
October 10, 2016: Oncotarget
Jacqui Wise
No abstract text is available yet for this article.
October 12, 2016: BMJ: British Medical Journal
Jacqueline Laures-Gore, Scott Russell, Rupal Patel, Michael Frankel
BACKGROUND/AIMS: This paper describes the design and collection of a comprehensive spoken language dataset from speakers with motor speech disorders in Atlanta, Ga., USA. This collaborative project aimed to gather a spoken database consisting of nonmainstream American English speakers residing in the Southeastern US in order to provide a more diverse perspective of motor speech disorders. METHODS: Ninety-nine adults with an acquired neurogenic disorder resulting in a motor speech disorder were recruited...
October 14, 2016: Folia Phoniatrica et Logopaedica
Frédérique J Liégeois, Michael S Hildebrand, Alexandra Bonthrone, Samantha J Turner, Ingrid E Scheffer, Melanie Bahlo, Alan Connelly, Angela T Morgan
FOXP2 is the major gene associated with severe, persistent, developmental speech and language disorders. While studies in the original family in which a FOXP2 mutation was found showed volume reduction and reduced activation in core language and speech networks, there have been no imaging studies of different FOXP2 mutations. We conducted a multimodal MRI study in an eight-year-old boy (A-II) with a de novo FOXP2 intragenic deletion. A-II showed marked bilateral volume reductions in the hippocampus, thalamus, globus pallidus, and caudate nucleus compared with 26 control males (effect sizes from -1 to -3)...
October 13, 2016: Scientific Reports
Chien-Hsu Chen, Chuan-Po Wang, I-Jui Lee, Chris Chun-Chin Su
BACKGROUND: We analyzed the efficacy of the interface design of speech generating devices on three non-verbal adolescents with autism spectrum disorder (ASD), in hopes of improving their on-campus communication and cognitive disability. The intervention program was created based on their social and communication needs in school. Two operating interfaces were designed and compared: the Hierarchical Relating Menu and the Pie Abbreviation-Expansion Menu. METHODS: The experiment used the ABCACB multiple-treatment reversal design...
2016: SpringerPlus
Matthieu Dubois, Cécile Chenivesse, Mathieu Raux, Adrian Morales-Robles, Marie-Cécile Nierat, Gilles Garcia, Xavier Navarro-Sune, Mario Chavez, Jacques Martinerie, Thomas Similowski
: Spontaneous ventilation in mammals is driven by automatic brainstem networks that generate the respiratory rhythm and increase ventilation in the presence of increased carbon dioxide production. Hypocapnia decreases the drive to breathe and induces apnea. In humans, this occurs during sleep but not during wakefulness. We hypothesized that hypocapnic breathing would be associated with respiratory-related cortical activity similar to that observed during volitional breathing, inspiratory constraints, or in patients with defective automatic breathing (preinspiratory potentials)...
October 12, 2016: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
Alan S Brown, David Gyllenberg, Heli Malm, Ian W McKeague, Susanna Hinkka-Yli-Salomäki, Miia Artama, Mika Gissler, Keely Cheslack-Postava, Myrna M Weissman, Jay A Gingrich, Andre Sourander
Importance: Speech/language, scholastic, and motor disorders are common in children. It is unknown whether exposure to selective serotonin reuptake inhibitors (SSRIs) during pregnancy influences susceptibility to these disorders. Objective: To examine whether SSRI exposure during pregnancy is associated with speech/language, scholastic, and motor disorders in offspring up to early adolescence. Design, Setting, and Participants: This prospective birth cohort study examined national population-based register data in Finland from 1996 to 2010...
October 12, 2016: JAMA Psychiatry
Christian Guilleminault, Shehlanoor Huseni, Lauren Lo
A short lingual frenulum has been associated with difficulties in sucking, swallowing and speech. The oral dysfunction induced by a short lingual frenulum can lead to oral-facial dysmorphosis, which decreases the size of upper airway support. Such progressive change increases the risk of upper airway collapsibility during sleep. Clinical investigation of the oral cavity was conducted as a part of a clinical evaluation of children suspected of having sleep disordered breathing (SDB) based on complaints, symptoms and signs...
July 2016: ERJ Open Research
Julia Merrill, Marc Bangert, Daniela Sammler, Angela D Friederici
Song and speech represent two auditory categories the brain usually classifies fairly easily. Functionally, this classification ability may depend to a great extent on characteristic features of pitch patterns present in song melody and speech prosody. Anatomically, the temporal lobe (TL) has been discussed as playing a prominent role in the processing of both. Here we tested individuals with congenital amusia and patients with unilateral left and right TL lesions in their ability to categorize song and speech...
October 11, 2016: Neurocase
César F Lima, Olivia Brancatisano, Amy Fancourt, Daniel Müllensiefen, Sophie K Scott, Jason D Warren, Lauren Stewart
Some individuals show a congenital deficit for music processing despite normal peripheral auditory processing, cognitive functioning, and music exposure. This condition, termed congenital amusia, is typically approached regarding its profile of musical and pitch difficulties. Here, we examine whether amusia also affects socio-emotional processing, probing auditory and visual domains. Thirteen adults with amusia and 11 controls completed two experiments. In Experiment 1, participants judged emotions in emotional speech prosody, nonverbal vocalizations (e...
October 11, 2016: Scientific Reports
Shelley B Brundage, James M Brinton, Adrienne B Hancock
PURPOSE: Virtual reality environments (VREs) allow for immersion in speaking environments that mimic real-life interactions while maintaining researcher control. VREs have been used successfully to engender arousal in other disorders. The purpose of this study was to investigate the utility of virtual reality environments to examine physiological reactivity and subjective ratings of distress in persons who stutter (PWS). METHOD: Subjective and objective measures of arousal were collected from 10PWS during four-minute speeches to a virtual audience and to a virtual empty room...
October 5, 2016: Journal of Fluency Disorders
J Baker
In this chapter, an overview of the heterogeneous group of functional voice disorders is given, including the psychogenic voice disorder (PVD) and hyperfunctional or muscle tension voice disorder (MTVD) subgroups. Reference is made to prevalence and demographic data, with empiric evidence for psychosocial factors commonly associated with the onset and maintenance of these disorders. Clinical features that distinguish between the different presentations of PVD and MTVD are described. While there are some shared characteristics, key differences between these two subgroups indicate that PVD more closely resembles the psychogenic movement disorders and a range of other functional neurologic disorders...
2017: Handbook of Clinical Neurology
J R Duffy
Acquired psychogenic or functional speech disorders are a subtype of functional neurologic disorders. They can mimic organic speech disorders and, although any aspect of speech production can be affected, they manifest most often as dysphonia, stuttering, or prosodic abnormalities. This chapter reviews the prevalence of functional speech disorders, the spectrum of their primary clinical characteristics, and the clues that help distinguish them from organic neurologic diseases affecting the sensorimotor networks involved in speech production...
2017: Handbook of Clinical Neurology
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