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https://www.readbyqxmd.com/read/29778275/quantifying-the-effects-of-16p11-2-copy-number-variants-on-brain-structure-a-multisite-genetic-first-study
#1
Sandra Martin-Brevet, Borja Rodríguez-Herreros, Jared A Nielsen, Clara Moreau, Claudia Modenato, Anne M Maillard, Aurélie Pain, Sonia Richetin, Aia E Jønch, Abid Y Qureshi, Nicole R Zürcher, Philippe Conus, Wendy K Chung, Elliott H Sherr, John E Spiro, Ferath Kherif, Jacques S Beckmann, Nouchine Hadjikhani, Alexandre Reymond, Randy L Buckner, Bogdan Draganski, Sébastien Jacquemont
BACKGROUND: 16p11.2 breakpoint 4 to 5 copy number variants (CNVs) increase the risk for developing autism spectrum disorder, schizophrenia, and language and cognitive impairment. In this multisite study, we aimed to quantify the effect of 16p11.2 CNVs on brain structure. METHODS: Using voxel- and surface-based brain morphometric methods, we analyzed structural magnetic resonance imaging collected at seven sites from 78 individuals with a deletion, 71 individuals with a duplication, and 212 individuals without a CNV...
March 27, 2018: Biological Psychiatry
https://www.readbyqxmd.com/read/29775078/effects-of-a-parent-implemented-developmental-reciprocity-treatment-program-for-children-with-autism-spectrum-disorder
#2
Grace W Gengoux, Salena Schapp, Sarah Burton, Christina M Ardel, Robin A Libove, Gina Baldi, Kari L Berquist, Jennifer M Phillips, Antonio Y Hardan
Developmental approaches to autism treatment aim to establish strong interpersonal relationships through joint play. These approaches have emerging empirical support; however, there is a need for further research documenting the procedures and demonstrating their effectiveness. This pilot study evaluated changes in parent behavior and child autism symptoms following a 12-week Developmental Reciprocity Treatment parent-training program. A total of 22 children with autism spectrum disorder between 2 and 6 years (mean age = 44...
May 1, 2018: Autism: the International Journal of Research and Practice
https://www.readbyqxmd.com/read/29773292/health-related-quality-of-life-measurement-in-patients-with-chronic-respiratory-failure
#3
REVIEW
Toru Oga, Wolfram Windisch, Tomohiro Handa, Toyohiro Hirai, Kazuo Chin
The improvement of health-related quality of life (HRQL) is an important goal in managing patients with chronic respiratory failure (CRF) receiving long-term oxygen therapy (LTOT) and/or domiciliary noninvasive ventilation (NIV). Two condition-specific HRQL questionnaires have been developed to specifically assess these patients: the Maugeri Respiratory Failure Questionnaire (MRF) and the Severe Respiratory Insufficiency Questionnaire (SRI). The MRF is more advantageous in its ease of completion; conversely, the SRI measures diversified health impairments more multi-dimensionally and discriminatively with greater balance, especially in patients receiving NIV...
May 2018: Respiratory Investigation
https://www.readbyqxmd.com/read/29773210/cognitive-and-behavioral-effects-of-obstructive-sleep-apnea-syndrome-in-children-a-systematic-literature-review
#4
REVIEW
Thiago da Silva Gusmão Cardoso, Sabine Pompéia, Mônica Carolina Miranda
Obstructive sleep apnea syndrome (OSA) is a common respiratory sleep disorder in children that is believed to adversely affect both quality of life and cognition. The purpose of the present systematic review was to obtain evidence of the impact of OSA on children's cognitive/behavioral abilities from primary studies published in MEDLINE/PubMed, LILACS, SciELO, ISI Web of Science, and PsycINFO databases from 2002 to 2016. Of the 649 articles found, only 34 met the eligibility criteria: studies that evaluated cognition, behavior, and/or academic achievement of children meeting clinical criteria for OSA to compare their data to those of healthy controls or normative data, provided that the samples did not present conditions that might affect cognition/behavior irrespective of OSA...
June 2018: Sleep Medicine
https://www.readbyqxmd.com/read/29771097/-mechanical-ventilation-with-explicit-recall-a-concept-analysis
#5
Mylène Suzie Michaud, Marilou Gagnon
Mechanical ventilation in the intensive care unit requires the use of medication to reduce pain, discomfort, anxiety, and agitation. An explicit recall refers to the phenomenon where the person remembers the perceptions that occurred under sedation during mechanical ventilation. Severe psychological consequences may occur as a result of an explicit recall. This phenomenon is not well-defined and there is no common language in the literature. A conceptual analysis was carried out using Rodgers' evolutionary method in order to clarify the concept of explicit recall...
March 2018: Recherche en Soins Infirmiers
https://www.readbyqxmd.com/read/29770430/nr4a2-haploinsufficiency-is-associated-with-intellectual-disability-and-autism-spectrum-disorder
#6
J Lévy, S Grotto, C Mignot, C Dupont, A Delahaye, B Benzacken, B Keren, D Haye, J Xavier, M Heulin, E Charles, A Verloes, A Maruani, E Pipiras, A-C Tabet
NR4A2, a member of the nuclear receptor superfamily, is involved in modulation of target gene transcription, regulating several developmental processes such as regulation of cellular homeostasis, neuronal development, inflammation and carcinogenesis. 2q24.1 deletions are extremely rare and only one patient with a de novo deletion encompassing only NR4A2 gene was reported so far. We report three additional patients with a de novo deletion encompassing NR4A2: two patients have deletions encompassing only NR4A2 gene and one patient has a deletion including NR4A2 and the first exon of GPD2...
May 16, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29767824/variability-in-verbal-and-nonverbal-communication-in-infants-at-risk-for-autism-spectrum-disorder-predictors-and-outcomes
#7
M Franchini, E Duku, V Armstrong, J Brian, S E Bryson, N Garon, W Roberts, C Roncadin, L Zwaigenbaum, I M Smith
Early communication impairment is among the most-reported first concerns in parents of young children with autism spectrum disorder (ASD). Using a parent-report questionnaire, we derived trajectory groups for early language and gesture acquisition in siblings at high risk for ASD and in children at low risk, during their first 2 years of life. Developmental skills at 6 months were associated with trajectory group membership representing growth in receptive language and gestures. Behavioral symptoms also predicted gesture development...
May 16, 2018: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/29767737/recent-issues-in-the-use-of-signed-language-assessments-for-diagnosis-of-language-disorders-in-signing-deaf-and-hard-of-hearing-children
#8
Jon Henner, Rama Novogrodsky, Jeanne Reis, Robert Hoffmeister
In recent years, normed signed language assessments have become a useful tool for researchers, practitioners, and advocates. Nevertheless, there are limitations in their application, particularly for the diagnosis of language disorders, and learning disabilities. Here, we discuss some of the available normed, signed language assessments and some of their limitations. We have also provided information related to practices that should lead to improvement in the quality of signed language assessments.
May 15, 2018: Journal of Deaf Studies and Deaf Education
https://www.readbyqxmd.com/read/29766818/cell-free-fetal-dna-a-novel-biomarker-for-early-prediction-of-pre-eclampsia-and-other-obstetric-complications
#9
Naina Kumar, Amit Kant Singh
Hypertensive disorder of pregnancy, especially Pre-eclampsia is one of the major causes of increased maternal and perinatal morbidity and mortality all over the world. Early prediction of pre-eclampsia is the need of modern obstetrics, as this can timely prevent the progress of disease as well as related fetal and maternal morbidity and mortality. In addition to the screening of fetal aneuploidies, Rhesus-D status, fetal sex, single gene disorders, the cell-free fetal Deoxyribonucleic acid (DNA) quantification has emerged out as a promising biomarker for prediction of pre-eclampsia...
May 16, 2018: Current Hypertension Reviews
https://www.readbyqxmd.com/read/29766459/cognitive-functioning-in-chiari-malformation-type-i-without-posterior-fossa-surgery
#10
Maitane García, Esther Lázaro, Juan Francisco López-Paz, Oscar Martínez, Manuel Pérez, Sarah Berrocoso, Mohammad Al-Rashaida, Imanol Amayra
Chiari Malformation type I (CM-I) is a neurological disorder characterized by a displacement of the cerebellar tonsils through the foramen magnum into the spinal canal. Most research has focused on physical symptomatology but few studies include neuropsychological examinations. Moreover, although current research highlights the involvement of the cerebellum on higher cognitive functions, little is known about cognitive consequences associated with CM-I. The aim of this study is to analyze cognitive functioning between 39 CM-I patients and 39 healthy controls, matched by gender, age and years of education...
May 15, 2018: Cerebellum
https://www.readbyqxmd.com/read/29766395/nonword-repetition-stimuli-for-vietnamese-speaking-children
#11
Giang Pham, Kerry Danahy Ebert, Kristine Thuy Dinh, Quynh Dam
Nonword repetition (NWR) has been a widely used measure of language-learning ability in children with and without language disorders. Although NWR tasks have been created for a variety of languages, minimal attention has been given to Asian tonal languages. This study introduces a new set of NWR stimuli for Vietnamese. The stimuli include 20 items ranging in length from one to four syllables. The items consist of dialect-neutral phonemes in consonant-vowel (CV) and CVC sequences that follow the phonotactic constraints of the language...
May 15, 2018: Behavior Research Methods
https://www.readbyqxmd.com/read/29765567/effects-of-multimodal-communication-program-on-patients-with-chronic-aphasia-a-single-subject-a-b-a-design-study
#12
Shohre Kaviani, Afshin Samaei, Masoomeh Salmani, Noureddin Nakhostin Ansari, Farnaz Dehnavi, Ehsan Shahverdi
Background and aim: Aphasia as a common consequence of stroke, is an acquired neurologic communication disorder that can affect symbol language processing. Different types of intervention approaches have been introduced. Multimodal Communication Program (MCP) is a new augmentative alternative communication approach in chronic aphasia. The aim of this study was to investigate the effect of MCP on communication skills of patients with chronic aphasia. Methods: This prospective, single subject, A-B-A design study was done during 2016 in Semnan, Iran...
March 2018: Electronic Physician
https://www.readbyqxmd.com/read/29764998/mapping-cortical-brain-asymmetry-in-17-141-healthy-individuals-worldwide-via-the-enigma-consortium
#13
Xiang-Zhen Kong, Samuel R Mathias, Tulio Guadalupe, David C Glahn, Barbara Franke, Fabrice Crivello, Nathalie Tzourio-Mazoyer, Simon E Fisher, Paul M Thompson, Clyde Francks
Hemispheric asymmetry is a cardinal feature of human brain organization. Altered brain asymmetry has also been linked to some cognitive and neuropsychiatric disorders. Here, the ENIGMA (Enhancing NeuroImaging Genetics through Meta-Analysis) Consortium presents the largest-ever analysis of cerebral cortical asymmetry and its variability across individuals. Cortical thickness and surface area were assessed in MRI scans of 17,141 healthy individuals from 99 datasets worldwide. Results revealed widespread asymmetries at both hemispheric and regional levels, with a generally thicker cortex but smaller surface area in the left hemisphere relative to the right...
May 15, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29764272/does-s100b-have-a-potential-role-in-affective-disorders-a-literature-review
#14
Hilda Kroksmark, Maj Vinberg
BACKGROUND: S100B is a calcium-binding protein located in glial cells; it is regarded as a potential biomarker in affective disorders. AIM: To review the literature investigating the role of S100B in patients with affective disorders. METHOD: A systematic review of original English language studies investigating S100B in serum, cerebrospinal fluid, plasma and lymphocytes, in patients with affective disorders, was conducted. The literature search was conducted within the PubMed database...
May 15, 2018: Nordic Journal of Psychiatry
https://www.readbyqxmd.com/read/29763840/the-risk-of-neurodevelopmental-disorders-at-age-10-years-associated-with-blood-concentrations-of-interleukins-4-and-10-during-the-first-postnatal-month-of-children-born-extremely-preterm
#15
Alan Leviton, Robert M Joseph, Elizabeth N Allred, Raina N Fichorova, T Michael O'Shea, Karl K C Kuban, Olaf Dammann
BACKGROUND: Interleukin (IL)-4 and IL-10 are viewed mainly as anti-inflammatory cytokines. Yet, high concentrations have also been associated with inflammation-related diseases in newborns. METHODS: We measured the concentrations of IL-4 and IL-10, as well as IL-8 and ICAM-1 in blood specimens collected on postnatal day 21 (N = 555), day 28 (N = 521), and both days 21 and 28 (N = 449) from children born extremely preterm (EP) (<28 weeks gestation) who at age 10 years had a DAS-II IQ Z-score > -2 (which approximates a score of >70) and the following assessments, CCC-2, and CSI-4, DAS-II, NEPSY-II, OWLS-II, SCQ, and WIAT-III...
May 12, 2018: Cytokine
https://www.readbyqxmd.com/read/29763417/meta-analyses-of-individual-versus-group-interventions-for-pre-school-children-with-autism-spectrum-disorder-asd
#16
Yoshiyuki Tachibana, Celine Miyazaki, Masashi Mikami, Erika Ota, Rintaro Mori, Yeonhee Hwang, Akiko Terasaka, Eriko Kobayashi, Yoko Kamio
There is little evidence regarding the effects of individual and group intervention for children with autism spectrum disorder (ASD) on important outcomes. We performed meta-analyses using a random effects model to investigate the effectiveness of the individual and group intervention studies and to compare the effectiveness of these two types if possible. The main analysis which excluded studies at a high risk of bias (Analysis I) included 14 randomised controlled trials targeting children with ASD≤6 years of age (594 children)...
2018: PloS One
https://www.readbyqxmd.com/read/29761539/-fat-is-really-a-four-letter-word-exploring-weight-related-communication-best-practices-in-children-with-and-without-disabilities-and-their-caregivers
#17
A C McPherson, T J Knibbe, M Oake, J A Swift, N Browne, G D C Ball, J Hamilton
BACKGROUND: Health care professionals play a critical role in preventing and managing childhood obesity, but the American Academy of Pediatrics recently stressed the importance of using sensitive and nonstigmatizing language when discussing weight with children and families. Although barriers to weight-related discussions are well known, there are few evidence-based recommendations around communication best practices. Disability populations in particular have previously been excluded from work in this area...
May 15, 2018: Child: Care, Health and Development
https://www.readbyqxmd.com/read/29761488/psychological-therapies-for-treatment-resistant-depression-in-adults
#18
REVIEW
Sharea Ijaz, Philippa Davies, Catherine J Williams, David Kessler, Glyn Lewis, Nicola Wiles
BACKGROUND: Antidepressants are a first-line treatment for adults with moderate to severe major depression. However, many people prescribed antidepressants for depression don't respond fully to such medication, and little evidence is available to inform the most appropriate 'next step' treatment for such patients, who may be referred to as having treatment-resistant depression (TRD). National Institute for Health and Care Excellence (NICE) guidance suggests that the 'next step' for those who do not respond to antidepressants may include a change in the dose or type of antidepressant medication, the addition of another medication, or the start of psychotherapy...
May 14, 2018: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/29761266/evaluation-of-thyroid-gland-as-an-organ-at-risk-after-breast-cancer-radiotherapy-a-systematic-review-and-meta-analysis
#19
REVIEW
L Darvish, M Ghorbani, S Hosseini Teshnizi, N Roozbeh, F Seif, M Reza Bayatiani, C Knaup, A Amraee
BACKGROUND: Radiotherapy can often lead to thyroid dysfunction. Some studies demonstrated that treatment of breast cancer by RT can expose thyroid gland to high doses of radiation. The aim of this systematic review is to evaluate consideration of thyroid gland as an organ at risk. METHODS: In this systematic review and meta-analysis to select initial studies, a comprehensive search by two independent reviewers was performed. Electronical databases following: Web of Science, Google Scholar, Scopus, PubMed, Elsevier, Embase, ProQuest and Persian databases such as Iranmedex, Magiran, and SID were searched...
May 14, 2018: Clinical & Translational Oncology
https://www.readbyqxmd.com/read/29759000/biological-sex-differences-in-depression-a-systematic-review
#20
Ainitze Labaka, Olatz Goñi-Balentziaga, Andrea Lebeña, Joana Pérez-Tejada
Depression is the leading cause of disability worldwide, and its prevalence is 2 times higher in women than in men. There is, however, a lack of data on sex-specific pathophysiology of this disorder. The purpose of this systematic review is to identify the biological sex differences found in major depressive disorder (MDD) in studies published in the last 10 years. We conducted a literature search using the Medline, PsycInfo, PubMed, and Web of Science databases, selecting English-language studies that included physiological measures compared by sex in addition to MDD...
January 1, 2018: Biological Research for Nursing
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