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https://www.readbyqxmd.com/read/29333915/gaze-avoidance-and-perseverative-language-in-fragile-x-syndrome-and-autism-spectrum-disorder-brief-report
#1
Laura Friedman, Audra Sterling, Andrea Barton-Hulsey
Gaze avoidance and perseverative language impact pragmatics in autism spectrum disorder (ASD) and fragile X syndrome (FXS). We examined these features during conversation samples in boys with ASD (n = 10) and boys with FXS and ASD (FXS+ASD; n = 10). Both groups had similar high rates of gaze avoidance and topic and conversation device perseverations, yet these features were not correlated with one another. Boys with FXS+ASD produced a higher proportion of single utterance perseverations. Results from this study highlight the need for future research to identify potential mechanisms influencing the presence of language perseverations and gaze avoidance...
January 15, 2018: Developmental Neurorehabilitation
https://www.readbyqxmd.com/read/29333343/resounding-failure-to-replicate-links-between-developmental-language-disorder-and-cerebral-lateralisation
#2
Alexander C Wilson, Dorothy V M Bishop
Background: It has been suggested that failure to establish cerebral lateralisation may be related to developmental language disorder (DLD). There has been weak support for any link with handedness, but more consistent reports of associations with functional brain lateralisation for language. The consistency of lateralisation across different functions may also be important. We aimed to replicate previous findings of an association between DLD and reduced laterality on a quantitative measure of hand preference (reaching across the midline) and on language laterality assessed using functional transcranial Doppler ultrasound (fTCD)...
2018: PeerJ
https://www.readbyqxmd.com/read/29333085/next-generation-sequencing-expression-profiling-of-mitochondrial-subunits-in-men-with-klinefelter-syndrome
#3
Michele Salemi, Laura Cimino, Marika Marino, Rossella Cannarella, Rosita A Condorelli, Corrado Romano, Sandro La Vignera, Aldo E Calogero
Objectives: Klinefelter syndrome (KS) is one of the most common sex-chromosome disorders as it affects up to 1 in every 600-1000 newborn males. Men with KS carry one extra X chromosome and they usually present a 47,XXY karyotype, but less frequent variants have also been reported in literature. KS typical symptoms include tall stature, gynecomastia, broad hips, hypogonadism and absent spermatogenesis. The syndrome is also related to a wide range of cognitive deficits, among which language-based learning disabilities and verbal cognition impairment are frequently diagnosed...
2018: International Journal of Medical Sciences
https://www.readbyqxmd.com/read/29331405/reliability-and-validity-of-the-turkish-version-of-the-consensus-auditory-perceptual-evaluation-of-voice-cape-v
#4
Esra Özcebe, Fatma Esen Aydinli, Tuğçe Karahan Tiğrak, Önal İncebay, Taner Yilmaz
OBJECTIVES: The main purpose of this study was to culturally adapt the Consensus Auditory-Perceptual Evaluation of Voice (CAPE-V) to Turkish and to evaluate its internal consistency, validity, and reliability. MATERIALS AND METHODS: The Turkish version of CAPE-V was developed, and with the use of a prospective case-control design, the voice recordings of 130 participants were collected according to CAPE-V protocol. Auditory-perceptual evaluation was conducted according to CAPE-V and Grade, Roughness, Breathiness, Asthenia, and Strain (GRBAS) scale by two ear, nose, and throat specialists and two speech and language therapists...
January 11, 2018: Journal of Voice: Official Journal of the Voice Foundation
https://www.readbyqxmd.com/read/29331093/sensitivity-to-audio-visual-synchrony-and-its-relation-to-language-abilities-in-children-with-and-without-asd
#5
Giulia Righi, Elena J Tenenbaum, Carolyn McCormick, Megan Blossom, Dima Amso, Stephen J Sheinkopf
Autism Spectrum Disorder (ASD) is often accompanied by deficits in speech and language processing. Speech processing relies heavily on the integration of auditory and visual information, and it has been suggested that the ability to detect correspondence between auditory and visual signals helps to lay the foundation for successful language development. The goal of the present study was to examine whether young children with ASD show reduced sensitivity to temporal asynchronies in a speech processing task when compared to typically developing controls, and to examine how this sensitivity might relate to language proficiency...
January 13, 2018: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/29330892/ophthalmic-artery-doppler-prediction-of-preeclampsia-a-systematic-review-and-meta-analysis
#6
REVIEW
Erkan Kalafat, Ariana Laoreti, Asma Khalil, Fabricio Da Silva Costa, Basky Thilaganathan
OBJECTIVE: To determine the accuracy of ophthalmic artery Doppler in pregnancy for the prediction of preeclampsia. METHODS: MEDLINE (1947-2017), EMBASE (1974-2017), CINAHL (inception-2017) and the Cochrane Library (inception-2017) were searched for relevant citations without language restrictions. Two reviewers independently selected studies that evaluated the accuracy of ophthalmic artery Doppler to predict the development of preeclampsia and performed data extraction to construct 2 × 2 tables...
January 12, 2018: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29329579/prevalence-and-incidence-of-major-depressive-disorders-among-people-living-with-hiv-residing-in-africa-a-systematic-review-and-meta-analysis-protocol
#7
Jean Joel Bigna, Lewis N Um, Serra Lem Asangbeh, Aurelie T Sibetcheu, Arnaud D Kazé, Jobert Richie Nansseu
BACKGROUND: Depression represents one of the most frequent neuro-psychiatric diseases; it seems to be more prevalent in people living with HIV compared to the general population. However, summarized data in the African setting on the topic are scarce. This systematic review and meta-analysis aims at assessing the prevalence and incidence of major depressive disorders (MDD) in HIV-infected African populations residing in Africa. METHODS AND DESIGN: This review will include observational studies conducted among HIV-infected people residing in Africa, which have reported either the prevalence or incidence of MDD or enough data for its appraisal...
January 12, 2018: Systematic Reviews
https://www.readbyqxmd.com/read/29329050/factors-influencing-the-severity-of-behavioral-phenotype-in-autism-spectrum-disorders-implications-for-research
#8
Mingyang Zou, Caihong Sun, Jia Wang, Jing Kang, Zhanbin Xu, Yongjuan Ma, Lei Chen, Xinxi Zhang, Wei Xia, Lijie Wu
The phenotypic heterogeneity of Autism Spectrum Disorders (ASD) presents particular research challenges in the assessment of symptom severity, while the standardized Autism Diagnostic Observation Schedule (ADOS) scores present a severity metric, namely calibrated severity scores (CSS) that are relatively impervious to individual characteristics. To date, no studies have examined the convergent validity of CSS in Chinese sample populations. The present study investigated the validity of the ADOS-CSS using a sample of 321 children aged 2-18 years with ASD, and developed upon existing literature examining the influence of non-ASD-specific characteristics on other types of measures including Autism Diagnostic Interview-Revised (ADI-R), Social Responsiveness Scale (SRS), and Vineland Adaptive Behavior Scales (VABS)...
January 5, 2018: Psychiatry Research
https://www.readbyqxmd.com/read/29327801/tense-and-plural-formation-in-welsh-english-bilingual-children-with-and-without-language-impairment
#9
Vasiliki Chondrogianni, Nerys John
BACKGROUND: Grammatical morphology has been shown to be problematic for children with specific language impairment (SLI) or developmental language disorder (DLD). Most research on this topic comes from widely spoken languages, such as English. Despite Welsh being the most extensively spoken indigenous in the UK after English, and Wales being the only official bilingual country in the UK, our knowledge about the morphosyntactic areas of Welsh that may pose problems for Welsh-speaking children with SLI is limited...
January 12, 2018: International Journal of Language & Communication Disorders
https://www.readbyqxmd.com/read/29327796/speech-characteristics-in-the-congenital-and-childhood-onset-forms-of-myotonic-dystrophy-type-1
#10
Lotta Sjögreen, Åsa Mårtensson, Anne-Berit Ekström
BACKGROUND: Myotonic dystrophy type 1 (DM1) is a slowly progressive multi-systemic disease with an autosomal-dominant inheritance caused by a mutation on chromosome 19 (19q13.3). AIMS: To explore speech characteristics in a group of individuals with the congenital and childhood-onset forms of DM1 in terms of intelligibility, speech-sound production, nasality and compensatory articulation. A further aim was to analyse whether speech characteristics were correlated to subforms of DM1 and if speech outcome could be related to muscle strength...
January 12, 2018: International Journal of Language & Communication Disorders
https://www.readbyqxmd.com/read/29325791/the-therapeutic-effects-of-cannabis-and-cannabinoids-an-update-from-the-national-academies-of-sciences-engineering-and-medicine-report
#11
REVIEW
Donald I Abrams
The National Academies of Sciences, Engineering and Medicine conducted a rapid turn-around comprehensive review of recent medical literature on The Health Effects of Cannabis and Cannabinoids. The 16-member committee adopted the key features of a systematic review process, conducting an extensive search of relevant databases and considered 10,000 recent abstracts to determine their relevance. Primacy was given to recently published systematic reviews and primary research that studied one of the committee's 11 prioritized health endpoints- therapeutic effects; cancer incidence; cardiometabolic risk; respiratory disease; immune function; injury and death; prenatal, perinatal and postnatal outcomes; psychosocial outcomes; mental health; problem Cannabis use; and Cannabis use and abuse of other substances...
January 8, 2018: European Journal of Internal Medicine
https://www.readbyqxmd.com/read/29324475/bilateral-cochlear-implants-maximizing-expected-outcomes
#12
Kate E Willis, Nathan J Blum, Stephanie A Waryasz, Marilyn Augustyn
Sonia is a 4 1/12-year-old girl with Waardenburg syndrome and bilateral sensorineural hearing loss who had bilateral cochlear implants at 2 7/12 years of age. She is referred to Developmental-Behavioral Pediatrics by her speech/language pathologist because of concerns that her language skills are not progressing as expected after the cochlear implant. At the time of the implant, she communicated using approximately 20 signs and 1 spoken word (mama). At the time of the evaluation (18 months after the implant) she had approximately 70 spoken words (English and Spanish) and innumerable signs that she used to communicate...
January 10, 2018: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/29323402/neurogenic-stuttering-a-review-of-the-literature
#13
REVIEW
C Cruz, H Amorim, G Beca, R Nunes
INTRODUCTION: Neurogenic stuttering is a disorder of neurologic origin in the rhythm of speech during which the patient knows exactly what he wants to say but is unable to because of an involuntary prolongation, cessation or repetition of a sound. AIM: To assemble new insights regarding the epidemiology, pathophysiology, diagnosis, evaluation and treatment of neurogenic stuttering. DEVELOPMENT: A review of all PubMed and Scopus published articles between January 2000 and September 2016 was performed...
January 16, 2018: Revista de Neurologia
https://www.readbyqxmd.com/read/29322350/monogenic-disorders-that-mimic-the-phenotype-of-rett-syndrome
#14
Siddharth Srivastava, Sonal Desai, Julie Cohen, Constance Smith-Hicks, Kristin Barañano, Ali Fatemi, SakkuBai Naidu
Rett syndrome (RTT) is caused by mutations in methyl-CpG-binding protein 2 (MECP2), but defects in a handful of other genes (e.g., CDKL5, FOXG1, MEF2C) can lead to presentations that resemble, but do not completely mirror, classical RTT. In this study, we attempted to identify other monogenic disorders that share features with RTT. We performed a retrospective chart review on n = 319 patients who had undergone clinical whole exome sequencing (WES) for further etiological evaluation of neurodevelopmental diagnoses that remained unexplained despite extensive prior workup...
January 10, 2018: Neurogenetics
https://www.readbyqxmd.com/read/29320883/the-prevalence-of-oral-stage-dysphagia-in-adults-presenting-with-temporomandibular-disorders-a-systematic-review-and-meta-analysis
#15
Órla Gilheaney, Sibylle Béchet, Patrick Kerr, Ciaran Kenny, Shauna Smith, Rita Kouider, Rachel Kidd, Margaret Walshe
OBJECTIVE: Temporomandibular disorders (TMDs) are the most commonly experienced non-dental orofacial pain disorders, with pain and dysfunction potentially resulting in oral stage dysphagia (OD). However, limited research has been conducted on this condition, with potential negative effects on clinical practice. Therefore, the aim of this study was to determine the prevalence of OD in adults presenting with TMDs, diagnosed as per the Research Diagnostic Criteria for Temporomandibular Disorders or the Diagnostic Criteria for Temporomandibular Disorders protocols...
January 11, 2018: Acta Odontologica Scandinavica
https://www.readbyqxmd.com/read/29319939/medical-devices-neurological-devices-classification-of-the-computerized-behavioral-therapy-device-for-psychiatric-disorders-final-order
#16
(no author information available yet)
The Food and Drug Administration (FDA or we) is classifying the computerized behavioral therapy device for psychiatric disorders into class II (special controls). The special controls that apply to the device type are identified in this order and will be part of the codified language for the computerized behavioral therapy device for psychiatric disorders' classification. We are taking this action because we have determined that classifying the device into class II (special controls) will provide a reasonable assurance of safety and effectiveness of the device...
December 27, 2017: Federal Register
https://www.readbyqxmd.com/read/29316970/cuiless2016-a-clinical-corpus-applying-compositional-normalization-of-text-mentions
#17
John D Osborne, Matthew B Neu, Maria I Danila, Thamar Solorio, Steven J Bethard
BACKGROUND: Traditionally text mention normalization corpora have normalized concepts to single ontology identifiers ("pre-coordinated concepts"). Less frequently, normalization corpora have used concepts with multiple identifiers ("post-coordinated concepts") but the additional identifiers have been restricted to a defined set of relationships to the core concept. This approach limits the ability of the normalization process to express semantic meaning. We generated a freely available corpus using post-coordinated concepts without a defined set of relationships that we term "compositional concepts" to evaluate their use in clinical text...
January 10, 2018: Journal of Biomedical Semantics
https://www.readbyqxmd.com/read/29315428/cervical-radiculopathy-effectiveness-of-adding-traction-to-physical-therapy-a-systematic-review-and-meta-analysis-of-randomized-controlled-trials
#18
Paolo Pillastrini, Antonio Romeo, Carla Vanti, Valerio Boldrini, Martina Ruggeri, Andrew Guccione, Lucia Bertozzi
Background: Cervical radiculopathy (CR) is a common cervical spine disorder. Cervical traction (CT) is a frequently recommended treatment for patients with CR. Purpose: The purpose of this study was to conduct a review and meta-analysis of randomized controlled trials (RCTs) on the effect of CT combined with other physical therapy procedures versus physical therapy procedures alone on pain and disability. Data Sources: Data were obtained from COCHRANE Controlled Trials Register, PubMed, CINAHL, Scopus, ISI Web of Science, and PEDro, from their inception to July 2016...
January 5, 2018: Physical Therapy
https://www.readbyqxmd.com/read/29314219/pediatric-psoriasis-evolving-perspectives
#19
Lawrence F Eichenfield, Amy S Paller, Wynnis L Tom, Jeffrey Sugarman, Adelaide A Hebert, Sheila Fallon Friedlander, Elaine Siegfried, Nanette Silverberg, Kelly M Cordoro
BACKGROUND/OBJECTIVES: Childhood-onset psoriasis is a common skin disorder that has recently received increasing attention, particularly because of its significant medical, social, financial, and psychological burdens and its associated comorbidities. With limited data available and lack of standardized management guidelines for pediatric psoriasis, an expert panel desired to provide an updated critical overview and practical guidance for management of the affected population. METHODS: A panel of pediatric dermatologists with extensive experience in pediatric psoriasis defined and prioritized a core set of topics, performed an English-language literature review, prepared critical evaluations and presentations of topic areas, and carried out a consensus meeting and follow-up consensus manuscript...
January 4, 2018: Pediatric Dermatology
https://www.readbyqxmd.com/read/29314174/validation-of-eating-disorders-examination-questionnaire-in-mexican-women
#20
Claudia Unikel Santoncini, Ietza Bojorquez Chapela, Concepción Díaz de León Vázquez, Verónica Vázquez Velázquez, José Alberto Rivera Márquez, Griselda Galván Sánchez, Ingrid Rocha Velis
BACKGROUND: Efficient assessment of eating disorders (ED) is indispensable for research and clinical practice in Mexico. One of the most commonly used questionnaires, the EDE-Q, has a self-applicable questionnaire format with 28 questions and four subscales drawn from the Eating Disorder Examination (EDE), a semistructured interview developed to evaluate the specific symptomatology of eating disorders. OBJECTIVE: Obtain the factorial structure and construct validity of the EDE-Q questionnaire in Mexican women...
January 4, 2018: International Journal of Eating Disorders
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