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https://www.readbyqxmd.com/read/28637741/the-closed-trial-clonidine-compared-with-midazolam-for-sedation-of-paediatric-patients-in-the-intensive-care-unit-study-protocol-for-a-multicentre-randomised-controlled-trial
#1
Antje Neubert, Manuel Alberto Baarslag, Monique van Dijk, Joost van Rosmalen, Joseph F Standing, Yucheng Sheng, Wolfgang Rascher, Deborah Roberts, Jackie Winslade, Louise Rawcliffe, Sara M Hanning, Tuuli Metsvaht, Viviana Giannuzzi, Peter Larsson, Pavla Pokorná, Alessandra Simonetti, Dick Tibboel
INTRODUCTION: Sedation is an essential part of paediatric critical care. Midazolam, often in combination with opioids, is the current gold standard drug. However, as it is a far-from-ideal agent, clonidine is increasingly being used in children. This drug is prescribed off-label for this indication, as many drugs in paediatrics are. Therefore, the CLOSED trial aims to provide data on the pharmacokinetics, safety and efficacy of clonidine for the sedation of mechanically ventilated patients in order to obtain a paediatric-use marketing authorisation...
June 21, 2017: BMJ Open
https://www.readbyqxmd.com/read/28579975/the-eight-and-a-half-year-journey-of-undiagnosed-ad-gene-sequencing-and-funding-of-advanced-genetic-testing-has-led-to-hope-and-new-beginnings
#2
Illana Gozes, Marc C Patterson, Anke Van Dijck, R Frank Kooy, Joseph N Peeden, Jacob A Eichenberger, Angela Zawacki-Downing, Sandra Bedrosian-Sermone
BACKGROUND: Activity-dependent neuroprotective protein (ADNP) is one of the most prevalent de novo mutated genes in syndromic autism spectrum disorders, driving a general interest in the gene and the syndrome. AIM: The aim of this study was to provide a detailed developmental case study of ADNP p.Tyr719* mutation toward improvements in (1) diagnostic procedures, (2) phenotypic scope, and (3) interventions. METHODS: Longitudinal clinical and parental reports...
2017: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/28562181/working-memory-predicts-presence-of-auditory-verbal-hallucinations-in-schizophrenia-and-bipolar-disorder-with-psychosis
#3
Lisanne M Jenkins, Anjuli S Bodapati, Rajiv P Sharma, Cherise Rosen
OBJECTIVE: The recent dramatic increase in research investigating auditory verbal hallucinations (AVHs) has broadened the former narrow focus on schizophrenia to incorporate additional populations that experience these symptoms. However, an understanding of potential shared mechanisms remains elusive. Based on theories suggesting a failure of top-down cognitive control, we aimed to compare the relationship between AVHs and cognition in two categorical diagnoses of psychosis, schizophrenia and psychotic bipolar disorder...
May 31, 2017: Journal of Clinical and Experimental Neuropsychology
https://www.readbyqxmd.com/read/28553246/role-of-two-types-of-syntactic-embedding-in-belief-attribution-in-adults-with-or-without-asperger-syndrome
#4
Morgane Clémentine Burnel, Marcela Perrone-Bertolotti, Stephanie Durrleman, Anne C Reboul, Monica Baciu
The role of syntax in belief attribution (BA) is not completely understood in healthy adults and understudied in adults with autism spectrum disorder. Embedded syntax could be useful either for the development of Theory of Mind (ToM) (Emergence account) or more generally over the lifespan (Reasoning account). Two hypotheses have been explored, one suggesting that embedding itself (Relatives and Complement sentences and Metarepresentation account) is important for ToM and another one considering that the embedding of a false proposition into a true one (Complement sentences and Misrepresentation account) is important...
2017: Frontiers in Psychology
https://www.readbyqxmd.com/read/28532740/reduced-intellectual-ability-in-offspring-of-ovarian-hyperstimulation-syndrome-a-cohort-study
#5
Gu-Feng Xu, Cheng-Liang Zhou, Yi-Meng Xiong, Jing-Yi Li, Tian-Tian Yu, Shen Tian, Xian-Hua Lin, Yun Liao, Yuan Lv, Fang-Hong Zhang, Zhi-Wei Liu, Yin-Yin Shi, Yan Shen, Jin Sha, Dan Zhang, Yi-Min Zhu, Jian-Zhong Sheng, He-Feng Huang
BACKGROUND: Ovarian hyperstimulation syndrome (OHSS), a complication of ovarian stimulation, has various adverse effects on both pregnant women and their offspring. However, whether OHSS will affect intellectual ability in offspring is still unknown. METHODS: We recruited 86 Chinese children born to OHSS women and 172 children conceived with non-OHSS In Vitro Fertilization (IVF) in this cohort study. Their intellectual ability was assessed according to the Revised Chinese Version of the Wechsler Intelligence Scale for Children (C-WISC)...
June 2017: EBioMedicine
https://www.readbyqxmd.com/read/28468693/neurocognitive-impairment-in-deficit-and-non-deficit-schizophrenia-a-meta-analysis
#6
E Bora, B Binnur Akdede, K Alptekin
BACKGROUND: Most studies suggested that patients with deficit schizophrenia have more severe impairment compared with patients with non-deficit schizophrenia. However, it is not clear whether deficit and non-deficit schizophrenia are associated with differential neurocognitive profiles. METHODS: The aim of this meta-analytic review was to compare cognitive performances of deficit and non-deficit patients with each other and with healthy controls. In the current meta-analysis, differences in cognitive abilities between 897 deficit and 1636 non-deficit patients with schizophrenia were examined...
May 4, 2017: Psychological Medicine
https://www.readbyqxmd.com/read/28418586/simulated-presence-therapy-for-dementia
#7
REVIEW
Iosief Abraha, Joseph M Rimland, Isabel Lozano-Montoya, Giuseppina Dell'Aquila, Manuel Vélez-Díaz-Pallarés, Fabiana M Trotta, Alfonso J Cruz-Jentoft, Antonio Cherubini
BACKGROUND: Dementia is a common and serious neuropsychiatric syndrome, characterised by progressive cognitive and functional decline. The majority of people with dementia develop behavioural disturbances, also known as behavioural and psychological symptoms of dementia (BPSD). Several non-pharmacological interventions have been evaluated to treat BPSD in people with dementia. Simulated presence therapy (SPT), an intervention that uses video or audiotape recordings of family members played to the person with dementia, is a possible approach to treat BPSD...
April 18, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28378347/the-effectiveness-of-massage-and-touch-on-behavioral-and-psychological-symptoms-of-dementia-a-quantitative-systematic-review-and-meta-analysis
#8
REVIEW
Jie Wu, Yi Wang, Zhiwen Wang
BACKGROUND: Many original studies have explored the effectiveness of massage and touch on behavioral and psychological symptoms of dementia. However, the study design, interventions, measurements and outcomes varied among studies. AIM: To systematically evaluate the effectiveness of massage and touch on the behavioral and psychological symptoms of older people with dementia. DESIGN: A quantitative systematic review and meta-analysis. DATA SOURCES: Cochrane Library, The Joanna Briggs Institute (JBI) Library, PubMed, CINAHL, ProQuest Health & Medical Complete, SinoMed, China National Knowledge Infrastructure (CNKI) and Wanfang were searched from the date the database established to January 2016...
April 5, 2017: Journal of Advanced Nursing
https://www.readbyqxmd.com/read/28371217/inherited-germline-atrx-mutation-in-two-brothers-with-atr-x-syndrome-and-osteosarcoma
#9
Jianling Ji, Catherine Quindipan, David Parham, Lishuang Shen, David Ruble, Moiz Bootwalla, Dennis T Maglinte, Xiaowu Gai, Sulagna C Saitta, Jaclyn A Biegel, Leo Mascarenhas
We report a family in which two brothers had an undiagnosed genetic disorder comprised of dysmorphic features, microcephaly, severe intellectual disability (non-verbal), mild anemia, and cryptorchidism. Both developed osteosarcoma. Trio exome sequencing (using blood samples from the younger brother and both parents) was performed and a nonsense NM_000489.4:c.7156C>T (p.Arg2386*) mutation in the ATRX gene was identified in the proband (hemizygous) and in the mother's peripheral blood DNA (heterozygous). The mother is healthy, does not exhibit any clinical manifestations of ATR-X syndrome and there was no family history of cancer...
May 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28342918/evidence-of-the-impact-of-visuo-spatial-processing-on-magnitude-representation-in-22q11-2-microdeletion-syndrome
#10
Lucie Attout, Marie-Pascale Noël, Line Vossius, Laurence Rousselle
The influence of visuo-spatial skills on numerical magnitude processing is the subject of a long-standing debate. As most of the numerical and non-numerical magnitude abilities underpinning mathematical development are visual by nature, they are often assessed in the visual modality, thereby confusing visuo-spatial and numerical processing. In order to assess the influence of visuo-spatial processing on numerical magnitude representation, we examined magnitude processing in patients with 22q11.2 deletion syndrome (22q11DS), a genetic condition characterized by a cognitive profile with a relative weakness in visuo-spatial abilities but with preserved verbal abilities...
March 23, 2017: Neuropsychologia
https://www.readbyqxmd.com/read/28277153/delineation-of-a-spatial-working-memory-profile-using-a-non-verbal-eye-tracking-paradigm-in-young-children-with-autism-and-williams-syndrome
#11
Peter A J Fanning, Darren R Hocking, Cheryl Dissanayake, Giacomo Vivanti
Working memory deficits profoundly inhibit children's ability to learn. While deficits have been identified in disorders such as autism spectrum disorder (ASD) and Williams syndrome (WS), findings are equivocal, and very little is known about the nature of these deficits early in development. A major barrier to advances in this area is the availability of tasks suitable for young children with neurodevelopmental disorders who experience difficulties with following verbal instructions or who are distressed by formal testing demands...
February 9, 2017: Child Neuropsychology: a Journal on Normal and Abnormal Development in Childhood and Adolescence
https://www.readbyqxmd.com/read/28276184/childhood-predictors-of-written-expression-in-late-adolescents-with-22q11-2-deletion-syndrome-a-longitudinal-study
#12
N Hamsho, K M Antshel, T L Eckert, W R Kates
BACKGROUND: 22q11.2 deletion syndrome (22q11DS) is the second most prevalent genetic syndrome and has a characteristic academic and behavioural phenotype. The primary objective of the current study was to examine the childhood predictors of written expression achievement in adolescents with 22q11DS. Written expression is an important skill that can impact an individual's overall academic performance, potentially resulting in increased levels of stress and exacerbation of psychiatric symptoms...
May 2017: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/28247486/developmental-changes-in-the-cognitive-and-educational-profiles-of-children-and-adolescents-with-22q11-2-deletion-syndrome
#13
Valentina Tobia, Sophie Brigstocke, Charles Hulme, Margaret J Snowling
BACKGROUND: 22q11.2 deletion syndrome (22q11DS) is the most common microdeletion syndrome in humans. The presence of learning difficulty is reported in the majority of individuals with 22q11DS, but there is considerable heterogeneity in cognitive and educational profiles and in the age-related changes. METHOD: Verbal, non-verbal and spatial abilities, and educational attainment of 18 children and adolescents with 22q11DS were assessed at two time points 5 years apart...
March 1, 2017: Journal of Applied Research in Intellectual Disabilities: JARID
https://www.readbyqxmd.com/read/28198067/verbal-spatial-iq-discrepancies-impact-brain-activation-associated-with-the-resolution-of-cognitive-conflict-in-children-and-adolescents
#14
Amy E Margolis, Katie S Davis, Lisa S Pao, Amy Lewis, Xiao Yang, Gregory Tau, Guihu Zhao, Zhishun Wang, Rachel Marsh
Verbal-spatial discrepancies are common in healthy individuals and in those with neurodevelopmental disorders associated with cognitive control deficits including: Autism Spectrum Disorder, Non-Verbal Learning Disability, Fragile X, 22q11 deletion, and Turner Syndrome. Previous data from healthy individuals suggest that the magnitude of the difference between verbal IQ (VIQ) and performance IQ (PIQ) scores (the VIQ>PIQ discrepancy) is associated with reduced thickness in frontal and parietal cortices (inferior frontal, anterior cingulate, inferior parietal lobule, and supramarginal gyrus) that support cognitive control...
February 15, 2017: Developmental Science
https://www.readbyqxmd.com/read/28185328/where-is-the-subjective-straight-ahead-in-williams-syndrome
#15
A Saj, J Heiz, K Barisnikov
BACKGROUND: Individuals with Williams Syndrome (WS) are known to have particular difficulties when performing visuo-spatial tasks, which could be related to their difficulties in using a specific reference system to determine spatial relations. The aim of the present study was to assess the internal representation of the body's sagittal plane, which is an important benchmark for an egocentric frame of reference. METHOD: The results of 18 WS individuals (mean age = 20...
February 10, 2017: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/28145167/-our-nurse-has-been-an-amazing-advocate-for-our-non-verbal-child
#16
(no author information available yet)
My son Conor is an 11-year-old boy with a rare genetic condition called Cornelia de Lange Syndrome and complex needs. We have encountered many medical and nursing staff on our journey, but learning disability community nurse Lisa Harris, who works for the Western Health and Social Care Trust in Derry, Northern Ireland, stands out.
February 1, 2017: Nursing Standard
https://www.readbyqxmd.com/read/28127863/signs-of-dysarthria-in-adults-with-22q11-2-deletion-syndrome
#17
Christina Persson, Katja Laakso, Hannah Edwardsson, Johanna Lindblom, Lena Hartelius
The aim of the study was to investigate how adults with 22q11.2 deletion syndrome (22q11DS) performed on dysarthria and intelligibility tests compared with a control group. Ten participants with confirmed 22q11.2 deletion, five males and five females with a mean age of 31 years (range: 19-49), were compared with a control group matched for gender and age (five males and five females, mean age: 32 years, range: 19-49). Assessment of non-verbal and verbal tasks reflecting respiration, phonation, oral motor function, velopharyngeal function, articulation, and prosody was performed as well as the Swedish Test of Intelligibility (STI)...
January 27, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28074148/apraxia-of-speech-and-cerebellar-mutism-syndrome-a-case-report
#18
E De Witte, I Wilssens, D De Surgeloose, G Dua, M Moens, J Verhoeven, M Manto, P Mariën
BACKGROUND: Cerebellar mutism syndrome (CMS) or posterior fossa syndrome (PFS) consists of a constellation of neuropsychiatric, neuropsychological and neurogenic speech and language deficits. It is most commonly observed in children after posterior fossa tumor surgery. The most prominent feature of CMS is mutism, which generally starts after a few days after the operation, has a limited duration and is typically followed by motor speech deficits. However, the core speech disorder subserving CMS is still unclear...
2017: Cerebellum & Ataxias
https://www.readbyqxmd.com/read/28018980/the-londowns-adult-cognitive-assessment-to-study-cognitive-abilities-and-decline-in-down-syndrome
#19
Carla M Startin, Sarah Hamburg, Rosalyn Hithersay, Amy Davies, Erin Rodger, Nidhi Aggarwal, Tamara Al-Janabi, André Strydom
BACKGROUND: Down syndrome (DS), the most common genetic cause of intellectual disability, is associated with an ultra-high risk of developing Alzheimer's disease. However, there is individual variability in the onset of clinical dementia and in baseline cognitive abilities prior to decline, particularly in memory, executive functioning, and motor coordination. The LonDownS Consortium aims to determine risk and protective factors for the development of dementia and factors relating to cognitive abilities in people with DS...
November 15, 2016: Wellcome Open Research
https://www.readbyqxmd.com/read/28006970/phase-ii-clinical-trial-of-atorvastatin-in-mild-traumatic-brain-injury
#20
Claudia S Robertson, James J McCarthy, Emmy R Miller, Harvey Levin, Stephen R McCauley, Paul R Swank
Statins constitute a class of medications commonly used in the treatment of elevated cholesterol. However, in experimental studies, statins also have other non-cholesterol-mediated mechanisms of action, which may have neuroprotective effects. The aim of this study was to determine whether administration of atorvastatin for 7 days post-injury would improve neurological recovery in patients with mild traumatic brain injury (mTBI). The hypothesis was that atorvastatin administration would reduce post-concussion symptoms and also that atorvastatin administration for 1 week post-injury would be safe...
February 27, 2017: Journal of Neurotrauma
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