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Language disorder

Stephanie Fehr, Kingsley Wong, Richard Chin, Simon Williams, Nick de Klerk, David Forbes, Rahul Krishnaraj, John Christodoulou, Jenny Downs, Helen Leonard
OBJECTIVE: To investigate seizure outcomes and their relationships to genotype and functional abilities in individuals with the cyclin-dependent kinase-like-5 (CDKL5) disorder. METHODS: Using the International CDKL5 Disorder Database, we identified 172 cases with a pathogenic CDKL5 mutation. We categorized individual mutations into 4 groups based on predicted structural and functional consequences. Negative binomial regression was used to model the linear association between current seizure rate and mutation group, current level of assistance required to walk 10 steps, and the highest level of expressive communication used to convey refusal or request...
October 21, 2016: Neurology
I Absah, A Rishi, N J Talley, D Katzka, M Halland
BACKGROUND: Rumination syndrome is a functional gastrointestinal disorder characterized by effortless and repetitive regurgitation of recently ingested food from the stomach to the oral cavity followed by either re-swallowing or spitting. Rumination is thought to occur due to a reversal of the esophagogastric pressure gradient. This is achieved by a coordinated abdominothoracic maneuver consisting of a thoracic suction, crural diaphragm relaxation and an increase in intragastric pressure...
October 20, 2016: Neurogastroenterology and Motility: the Official Journal of the European Gastrointestinal Motility Society
Geeta Shroff
BACKGROUND: The expanded disability status scale (EDSS) is a validated and reliable tool to assess the extent of disabilities in patients with multiple sclerosis (MS). However, the use of this tool has been found to be limited in assessing various symptoms of MS that are important. Our study aimed at evaluating the efficacy of a new scoring system, reverse nutech functional score (RNFS) as compared to EDSS in assessing patients with MS treated with human embryonic stem cell (hESC) therapy...
December 2016: Clinical and Translational Medicine
Elisa Bruno, Alessandra Nicoletti, Graziella Quattrocchi, Graziella Filippini, Carlo Colosimo, Mario Zappia
BACKGROUND: Essential tremor is one of the most common movement disorders. Treatment primarily consists of pharmacological agents. While primidone and propranolol are well-established treatments in clinical practice, they may be ineffective in 25% to 55% of patients and can produce serious adverse events in a large percentage of them. For these reasons, it is worth evaluating the treatment alternatives for essential tremor. Some specialists have suggested that pregabalin could be a potentially useful agent, but there is uncertainty about its efficacy and safety...
October 20, 2016: Cochrane Database of Systematic Reviews
Y H Shi, J H Zhao, J L Song, Y J Li, K Liang
Objective: To explore the clinical and perfusion weighted imaging (PWI) characteristics of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) in order to improve the early diagnosis rate. Methods: Clinical and imaging data of 46 patients with final diagnosis of MELAS treated in Henan Province People's Hospital from January 2012 to June 2016 were collected. Results: Patients presented with symptoms of epilepsy, hemiplegia, language disorders, and decreased visual acuity and so on...
October 11, 2016: Zhonghua Yi Xue za Zhi [Chinese medical journal]
Patrícia Romano Opasso, Simone Dos Santos Barreto, Karin Zazo Ortiz
Objective: To establish normative parameters for the F-A-S form of the phonemic verbal fluency test, in a population of Brazilian Portuguese speaking adults with high-level literacy. Methods: The sample comprised 40 male and female volunteers aged 19 to 59 years, and at least 8 years of formal education. Volunteers were first submitted to the Mini-Mental State Examination and the Clock Drawing cognitive screening tests, then to the F-A-S Verbal Phonemic Fluency Test; in this test, examinees were given 60 seconds to generate as many words as possible beginning with each of the three test letters...
July 2016: Einstein
Mikhail Kissine, Elise Clin, Jessica de Villiers
Autism spectrum disorder (ASD) is characterized by primary pragmatic difficulties, out of step with verbal and non-verbal developmental level. This selective survey paper addresses three recent domains of research on pragmatic functions in autism. First, we provide an up-to-date discussion of how lack of sensitivity to social cues impacts early acquisition of words. Second, we review recent findings on the comprehension of non-literal language, pointing to a more refined clinical reality. Third, we describe recent developments in the study of conversation skills in autism...
October 2016: Médecine Sciences: M/S
Sophie Grand'Maison, Louise Pilote, Marisa Okano, Tara Landry, Natalie Dayan
Women with prior hypertensive disorders of pregnancy (HDP) are at twice the risk of cardiovascular disease compared with women with prior normotensive pregnancy, possibly because of sustained vascular dysfunction after delivery. The aim of this systematic review and meta-analysis is to summarize evidence of vascular dysfunction at least 3 months after HDP. Articles in all languages were retrieved from principal databases. Studies included were observational, with HDP as the main exposure and measurements of vascular dysfunction via imaging modalities or serum biomarkers as the main outcome, assessed at least 3 months postpartum...
October 17, 2016: Hypertension
A Rumshisky, M Ghassemi, T Naumann, P Szolovits, V M Castro, T H McCoy, R H Perlis
The ability to predict psychiatric readmission would facilitate the development of interventions to reduce this risk, a major driver of psychiatric health-care costs. The symptoms or characteristics of illness course necessary to develop reliable predictors are not available in coded billing data, but may be present in narrative electronic health record (EHR) discharge summaries. We identified a cohort of individuals admitted to a psychiatric inpatient unit between 1994 and 2012 with a principal diagnosis of major depressive disorder, and extracted inpatient psychiatric discharge narrative notes...
October 18, 2016: Translational Psychiatry
Keming Gao, Fang Fang, Zuowei Wang, Joseph R Calabrese
OBJECTIVES: To compare objective and subjective weight gain of second-generation antipsychotics in schizophrenia and bipolar disorder. METHODS: English-language literature published and cited in PubMed (MEDLINE) from January 1966 to December 2015 was searched with the keywords antipsychotic, atypical antipsychotic, or generic/brand name of atypical antipsychotics, and schizophrenia, bipolar disorder, bipolar mania, or bipolar depression, and safety, tolerability, weight gain, and randomized, placebo-controlled clinical trials...
October 5, 2016: Journal of Clinical Psychopharmacology
Steve Majerus, Nelson Cowan
Verbal short-term memory (STM) impairment is one of the most consistent associated deficits observed in developmental reading disorders such as dyslexia. Few studies have addressed the nature of this STM impairment, especially as regards the ability to temporarily store serial order information. This question is important as studies in typically developing children have shown that serial order STM abilities are predictors of oral and written language development. Associated serial order STM deficits in dyslexia may therefore further increase the learning difficulties in these populations...
2016: Frontiers in Psychology
R E Frye, J Slattery, L Delhey, B Furgerson, T Strickland, M Tippett, A Sailey, R Wynne, S Rose, S Melnyk, S Jill James, J M Sequeira, E V Quadros
We sought to determine whether high-dose folinic acid improves verbal communication in children with non-syndromic autism spectrum disorder (ASD) and language impairment in a double-blind placebo control setting. Forty-eight children (mean age 7 years 4  months; 82% male) with ASD and language impairment were randomized to receive 12 weeks of high-dose folinic acid (2 mg kg(-1) per day, maximum 50 mg per day; n=23) or placebo (n=25). Children were subtyped by glutathione and folate receptor-α autoantibody (FRAA) status...
October 18, 2016: Molecular Psychiatry
Julia Schellong, Franziska Epple, Kerstin Weidner, Andrea Möllering
A non-neglectable portion of people that have fled to Germany have been subjected to expulsion, violence, torture and grave human loss. In some of them, signs of secondary mental problems are obvious. In the light of the efforts at integration, these diseases must not be neglected. Outlined are the federal legal requirements and how the cost coverage, as well as the admission to health care system, is structured. Additionally, 2 exemplary regional models for psychosomatic health care are being introduced: Dresden's "Stepped Care Model for Psychologically Vulnerable Refugees" includes phased offers for prevention and treatment of acute mental crises, as well as somatoform disorders in refugees and their volunteer helpers...
October 17, 2016: Psychotherapie, Psychosomatik, Medizinische Psychologie
Jonas Schaffrath, Mario Schmitz-Buhl, Ali Kemal Gün, Euphrosyne Gouzoulis-Mayfrank
Medical and psychological care of refugees is among the most important current challenges in German health politics. Work with patients from this heterogeneous group who have often faced severe stress before, during and after their migration is currently based on a thin data foundation. Based on introductory information on current knowledge concerning psychiatric morbidity of refugees this article presents the psychiatric care of refugees at LVR Clinics Cologne - a psychiatric specialty hospital situated in North Rhine-Westphalia, Germany...
October 17, 2016: Psychotherapie, Psychosomatik, Medizinische Psychologie
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
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
Delphine Raucher-Chéné, Amélie M Achim, Arthur Kaladjian, Chrystel Besche-Richard
BACKGROUND: One of the main features of bipolar disorder (BD), besides mood dysregulation, is an alteration of the structure of language. Bipolar patients present changes in semantic contents, impaired verbal associations, abnormal prosody and abnormal speed of language highlighted with various experimental tasks. Verbal fluency tasks are widely used to assess the abilities of bipolar patients to retrieve and produce verbal material from the lexico-semantic memory. Studies using these tasks have however yielded discrepant results...
October 5, 2016: Journal of Affective Disorders
Wei Cheng, Edmund T Rolls, Jiang Qiu, Wei Liu, Yanqing Tang, Chu-Chung Huang, XinFa Wang, Jie Zhang, Wei Lin, Lirong Zheng, JunCai Pu, Shih-Jen Tsai, Albert C Yang, Ching-Po Lin, Fei Wang, Peng Xie, Jianfeng Feng
The first brain-wide voxel-level resting state functional connectivity neuroimaging analysis of depression is reported, with 421 patients with major depressive disorder and 488 control subjects. Resting state functional connectivity between different voxels reflects correlations of activity between those voxels and is a fundamental tool in helping to understand the brain regions with altered connectivity and function in depression. One major circuit with altered functional connectivity involved the medial orbitofrontal cortex Brodmann area 13, which is implicated in reward, and which had reduced functional connectivity in depression with memory systems in the parahippocampal gyrus and medial temporal lobe, especially involving the perirhinal cortex Brodmann area 36 and entorhinal cortex Brodmann area 28...
October 14, 2016: Brain: a Journal of Neurology
Sanae Tanaka, Manabu Oi, Hiroshi Fujino, Mitsuru Kikuchi, Yuko Yoshimura, Yui Miura, Masatsugu Tsujii, Harue Ohoka
Some overlap has been suggested among the subtypes of autism spectrum disorder (ASD) in children. The Japanese version of the Children's Communication Checklist-2 (CCC-2) is a useful measure for identifying profiles in relation to communication impairments in children with ASD. The aim of this study was to investigate whether the CCC-2 could identify subtypes in relation to communication impairments in Japanese children with ASD. The study participants were 113 children with ASD but without intellectual disabilities aged 3-12 years...
October 14, 2016: Clinical Linguistics & Phonetics
Hee Jeong Yoo, Mira Park, Soon Ae Kim
OBJECTIVES: Several reports suggest that mitochondrial dysfunction is involved in the pathophysiology of autism spectrum disorders (ASD). Therefore, mitochondrial DNA (mtDNA) copy number, a common biomarker for mitochondrial dysfunction, might be associated with ASD phenotypes. METHODS: Relative mtDNA copy number in the peripheral blood cells of 100 Korean ASD patients and their unaffected sib-pairs was measured by quantitative polymerase chain reaction (qPCR). RESULTS: ASD patients had significantly higher relative mtDNA copy numbers than their unaffected sibs (P = ...
October 14, 2016: World Journal of Biological Psychiatry
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