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https://www.readbyqxmd.com/read/28735268/early-surgery-and-neurodevelopmental-outcomes-of-children-born-extremely-preterm
#1
Rodney W Hunt, Leah M Hickey, Alice C Burnett, Peter J Anderson, Jeanie Ling Yoong Cheong, Lex W Doyle, Rodney W Hunt
OBJECTIVES: To (1) compare the neurodevelopmental outcomes at 8 years of age of children born extremely preterm (EP) who underwent surgical procedures during the course of their initial hospital admission with those who did not and (2) compare the outcomes across eras, from 1991 to 2005. DESIGN: Prospective observational cohort studies conducted over three different eras (1991-1992, 1997 and 2005). Surviving EP children, who required surgical intervention during the primary hospitalisation, were assessed for general intelligence (IQ) and neurosensory status at 8 years of age...
July 22, 2017: Archives of Disease in Childhood. Fetal and Neonatal Edition
https://www.readbyqxmd.com/read/28728761/predictors-of-co-occurring-neurodevelopmental-disabilities-in-children-with-autism-spectrum-disorders
#2
Lauren Head Zauche, Ashley E Darcy Mahoney, Melinda K Higgins
PURPOSE: Co-occurring neurodevelopmental disabilities (including cognitive and language delays and attention deficit hyperactivity disorder) affect over half of children with ASD and may affect later behavioral, language, and cognitive outcomes beyond the ASD diagnosis. However, no studies have examined predictors of co-occurring neurodevelopmental disabilities in children with ASD. This study investigated whether maternal sociodemographic, perinatal and neonatal factors are associated with co-occurring disabilities...
July 2017: Journal of Pediatric Nursing
https://www.readbyqxmd.com/read/28727900/head-midline-position-for-preventing-the-occurrence-or-extension-of-germinal-matrix-intraventricular-hemorrhage-in-preterm-infants
#3
REVIEW
Olga Romantsik, Maria Grazia Calevo, Matteo Bruschettini
BACKGROUND: Preterm birth is known to constitute the major risk factor for development of germinal matrix-intraventricular hemorrhage (GM-IVH). Head position may affect cerebral hemodynamics and thus may be involved indirectly in development of GM-IVH. Turning the head toward one side may functionally occlude jugular venous drainage on the ipsilateral side while increasing intracranial pressure and cerebral blood volume. Thus, it has been suggested that cerebral venous pressure is reduced and hydrostatic brain drainage improved if the patient is in supine midline position with the bed tilted 30°...
July 20, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28724449/novel-promoters-and-coding-first-exons-in-dlg2-linked-to-developmental-disorders-and-intellectual-disability
#4
Claudio Reggiani, Sandra Coppens, Tayeb Sekhara, Ivan Dimov, Bruno Pichon, Nicolas Lufin, Marie-Claude Addor, Elga Fabia Belligni, Maria Cristina Digilio, Flavio Faletra, Giovanni Battista Ferrero, Marion Gerard, Bertrand Isidor, Shelagh Joss, Florence Niel-Bütschi, Maria Dolores Perrone, Florence Petit, Alessandra Renieri, Serge Romana, Alexandra Topa, Joris Robert Vermeesch, Tom Lenaerts, Georges Casimir, Marc Abramowicz, Gianluca Bontempi, Catheline Vilain, Nicolas Deconinck, Guillaume Smits
BACKGROUND: Tissue-specific integrative omics has the potential to reveal new genic elements important for developmental disorders. METHODS: Two pediatric patients with global developmental delay and intellectual disability phenotype underwent array-CGH genetic testing, both showing a partial deletion of the DLG2 gene. From independent human and murine omics datasets, we combined copy number variations, histone modifications, developmental tissue-specific regulation, and protein data to explore the molecular mechanism at play...
July 19, 2017: Genome Medicine
https://www.readbyqxmd.com/read/28720891/whole-exome-sequencing-reveals-inherited-and-de-novo-variants-in-autism-spectrum-disorder-a-trio-study-from-saudi-families
#5
Bashayer Al-Mubarak, Mohamed Abouelhoda, Aisha Omar, Hesham AlDhalaan, Mohammed Aldosari, Michael Nester, Hussain A Alshamrani, Mohamed El-Kalioby, Ewa Goljan, Renad Albar, Shazia Subhani, Asma Tahir, Sultana Asfahani, Alaa Eskandrani, Ahmed Almusaiab, Amna Magrashi, Jameela Shinwari, Dorota Monies, Nada Al Tassan
Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with genetic and clinical heterogeneity. The interplay of de novo and inherited rare variants has been suspected in the development of ASD. Here, we applied whole exome sequencing (WES) on 19 trios from singleton Saudi families with ASD. We developed an analysis pipeline that allows capturing both de novo and inherited rare variants predicted to be deleterious. A total of 47 unique rare variants were detected in 17 trios including 38 which are newly discovered...
July 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28719906/a-common-ancestral-asn242ser-mutation-in-tmem67-identified-in-multiple-iranian-families-with-joubert-syndrome
#6
MohammadReza Dehghani, Majid Mojarad, Ehsan Ghayoor Karimiani, Mohammad Yahya Vahidi Mehrjardi, Afsaneh Sahebalzamani, Farah Ashrafzadeh, Mehran Beiraghi Toosi, Atiyeh Eslahi, Najmeh Ahangari, Seyed Mojtaba Yassini, Afsaneh Hassanbeigi, Azam Rasti, Seyed Mehdi Kalantar, Reza Maroofian
BACKGROUND: Joubert syndrome (JS) is a clinically and genetically heterogeneous group of rare neurodevelopmental disorder characterised by peculiar midbrain-hindbrain malformation, known as the "molar tooth" sign. JS can manifest a broad range of signs and symptoms. The most common features of JS are hypotonia, ataxia, developmental delay/intellectual disability, abnormal eye movements, and neonatal breathing abnormalities. To date, 29 genes have been shown to cause JS. METHODS: We employed whole-genome single nucleotide polymorphism genotyping in a group of Iranian families with JS and Sanger sequencing of a known mutation associated with JS located in a single homozygous regions shared by affected members of the families...
July 19, 2017: Public Health Genomics
https://www.readbyqxmd.com/read/28717667/haploinsufficiency-of-bcl11a-associated-with-cerebellar-abnormalities-in-2p15p16-1-deletion-syndrome
#7
Hiroko Shimbo, Takayuki Yokoi, Noriko Aida, Seiji Mizuno, Hiroshi Suzumura, Junichi Nagai, Kazumi Ida, Yumi Enomoto, Chihiro Hatano, Kenji Kurosawa
BACKGROUND: Chromosome 2p15p16.1 deletion syndrome is a rare genetic disorder characterized by intellectual disability (ID), neurodevelopmental delay, language delay, growth retardation, microcephaly, structural brain abnormalities, and dysmorphic features. More than 30 patients with 2p15p16.1 microdeletion syndrome have been reported in the literature. METHODS: Molecular analysis was performed using microarray-based comparative genomic hybridization (array CGH)...
July 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28716012/case-reports-of-juvenile-gm1-gangliosidosisis-type-ii-caused-by-mutation-in-glb1-gene
#8
Parvaneh Karimzadeh, Samaneh Naderi, Farzaneh Modarresi, Hassan Dastsooz, Hamid Nemati, Tayebeh Farokhashtiani, Bibi Shahin Shamsian, Soroor Inaloo, Mohammad Ali Faghihi
BACKGROUND: Type II or juvenile GM1-gangliosidosis is an autosomal recessive lysosomal storage disorder, which is clinically distinct from infantile form of the disease by the lack of characteristic cherry-red spot and hepatosplenomegaly. The disease is characterized by slowly progressive neurodegeneration and mild skeletal changes. Due to the later age of onset and uncharacteristic presentation, diagnosis is frequently puzzled with other ataxic and purely neurological disorders. Up to now, 3-4 types of GM1-gangliosidosis have been reported and among them type I is the most common phenotype with the age of onset around 6 months...
July 17, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28714101/children-born-extremely-preterm-had-different-sleeping-habits-at-11-years-of-age-and-more-childhood-sleep-problems-than-term-born-children
#9
Kristine Marie Stangenes, Silje Kathrine Fevang, Jacob Grundt, Hilde Mjell Donkor, Trond Markestad, Mari Hysing, Irene Bircow Elgen, Bjørn Bjorvatn
AIM: This study explored whether extremely preterm (EPT) children had different sleep characteristics in childhood than children born at term, and how neurodevelopmental disabilities (NDD) affected sleep in children born EPT. METHODS: A Norwegian national cohort of 231 children born EPT from 1999-2000 and separate study data on 556 children born at term in 2001 were compared. Parental questionnaires mapped the children's current sleep habits at 11 years of age, namely the prevalence of sleep problems throughout childhood until this age and five categories of sleep problems...
July 17, 2017: Acta Paediatrica
https://www.readbyqxmd.com/read/28714100/why-is-it-so-hard-to-reach-agreement-on-terminology-the-case-of-developmental-language-disorder-dld
#10
Dorothy V M Bishop
A recent project entitled CATALISE used the Delphi method to reach a consensus on terminology for unexplained language problems in children. 'Developmental language disorder' (DLD) was the term agreed by a panel of 57 experts. Here I reflect on points of difficulty that arose when attempting to reach a consensus, using qualitative information from comments made by panel members to illustrate the kinds of argument used. One issue of debate was the use of labels, in particular the term 'disorder', which was seen as having both pros and cons...
July 17, 2017: International Journal of Language & Communication Disorders
https://www.readbyqxmd.com/read/28713324/color-vision-losses-in-autism-spectrum-disorders
#11
Elaine C Zachi, Thiago L Costa, Mirella T S Barboni, Marcelo F Costa, Daniela M O Bonci, Dora F Ventura
Autism spectrum disorders (ASDs) are neurodevelopmental conditions characterized by impairments in social/communication abilities and restricted behaviors. The present study aims to examine color vision discrimination in ASD children and adolescents without intellectual disability. The participants were also subdivided in order to compare color vision thresholds of autistic participants and those who achieved diagnostic criteria for Asperger Syndrome (AS). Nine subjects with autism, 11 participants with AS and 36 typically developing children and adolescents participated in the study...
2017: Frontiers in Psychology
https://www.readbyqxmd.com/read/28711232/sleep-an-underemphasized-aspect-of-health-and-development-in-neurorehabilitation
#12
Olaf Verschuren, Jan Willem Gorter, Lesley Pritchard-Wiart
Sleep deficiency has unique causes and implications for children with neonatal brain injury; contributing to the development or exacerbation of neurodevelopmental impairments and yet it is an underemphasized aspect of health and development. There is very little research evidence to guide the management of sleep disorders in children with cerebral palsy, a common neurodevelopmental disability of childhood. This paper is a comprehensive review and analysis of the literature regarding what is known about sleep quantity and quality in children with cerebral palsy...
July 12, 2017: Early Human Development
https://www.readbyqxmd.com/read/28708303/using-medical-exome-sequencing-to-identify-the-causes-of-neurodevelopmental-disorders-experience-of-two-clinical-units-and-216-patients
#13
E Chérot, B Keren, C Dubourg, W Carré, M Fradin, A Lavillaureix, A Afenjar, L Burglen, S Whalen, P Charles, I Marey, S Heide, A Jacquette, D Heron, D Doummar, D Rodriguez, Thierry Billette de Villemeur, M-L Moutard, A Guët, J Xavier, D Périsse, D Cohen, F Demurger, C Quélin, C Depienne, S Odent, C Nava, V David, L Pasquier, C Mignot
Though whole exome sequencing is the gold standard for the diagnosis of neurodevelopmental disorders, it remains expensive for some genetic centers. Commercialized panels comprising all OMIM-referenced genes called "medical exome" constitute an alternative strategy to whole exome sequencing, but its efficiency is poorly known. In this study, we report the experience of two clinical genetic centers using medical exome for diagnosis of neurodevelopmental disorders. We recruited 216 consecutive index patients with neurodevelopmental disorders in two French genetic centers, corresponded to the daily practice of the units and included non-syndromic intellectual disability (n=33), syndromic intellectual disability (n=122), pediatric neurodegenerative disorders (n=7) and autism spectrum disorder (n=54)...
July 14, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28704817/outcome-of-preterm-neonates-with-a-birth-weight-1-500-g-with-severe-hypoxemic-respiratory-failure-rescued-by-inhaled-nitric-oxide-therapy-and-high-frequency-oscillatory-ventilation
#14
Atoosa Golfar, Jagmeet Bhogal, Barbara Kamstra, Ann Hudson-Mason, Mosarrat Qureshi, Georg M Schmölzer, Po-Yin Cheung
BACKGROUND: Despite being an experimental therapy in preterm neonates, inhaled nitric oxide (iNO) is used as a rescue therapy when high-frequency oscillatory ventilation (HFOV) and other conventional therapies fail. OBJECTIVE: We aimed to determine the outcomes of very-low-birth-weight (VLBW) neonates with hypoxemic respiratory failure (HRF) who had received iNO after maximal conventional therapies. METHODS: We retrospectively reviewed preterm neonates (<33 weeks of gestation with a birth weight <1,500 g) who had all received HFOV and then iNO from March 1, 2009 to April 1, 2014 at the Royal Alexandra Hospital...
July 14, 2017: Neonatology
https://www.readbyqxmd.com/read/28699168/intellectual-disability-in-children-aged-less-than-seven-years-born-moderately-and-late-preterm-compared-with-very-preterm-and-term-born-children-a-nationwide-birth-cohort-study
#15
M Hirvonen, R Ojala, P Korhonen, P Haataja, K Eriksson, K Rantanen, M Gissler, T Luukkaala, O Tammela
BACKGROUND: Prematurity has been shown to be associated with an increased risk of intellectual disability (ID). METHOD: The aim was to establish whether the prevalence of ID, defined as significant limitations in both intellectual (intelligence quotient below 70) and adaptive functioning among moderately preterm (MP; 32(+0) -33(+6)  weeks) and late preterm (LP; 34(+0) -36(+6)  weeks) infants, is increased compared with that in term infants (≥37(+0)  weeks)...
July 11, 2017: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/28695822/arid1b-haploinsufficient-mice-reveal-neuropsychiatric-phenotypes-and-reversible-causes-of-growth-impairment
#16
Cemre Celen, Jen-Chieh Chuang, Xin Luo, Nadine Nijem, Angela K Walker, Fei Chen, Shuyuan Zhang, Andrew S Chung, Liem H Nguyen, Ibrahim Nassour, Albert Budhipramono, Xuxu Sun, Levinus A Bok, Meriel McEntagart, Evelien F Gevers, Shari G Birnbaum, Amelia J Eisch, Craig M Powell, Woo-Ping Ge, Gijs We Santen, Maria Chahrour, Hao Zhu
Sequencing studies have implicated haploinsufficiency of ARID1B, a SWI/SNF chromatin-remodeling subunit, in short stature (Yu et al., 2015), autism spectrum disorder (O'Roak et al., 2012), intellectual disability (Deciphering Developmental Disorders Study, 2015), and corpus callosum agenesis (Halgren et al., 2012). In addition, ARID1B is the most common cause of Coffin-Siris syndrome, a developmental delay syndrome characterized by some of the above abnormalities (Santen et al., 2012; Tsurusaki et al., 2012; Wieczorek et al...
July 11, 2017: ELife
https://www.readbyqxmd.com/read/28695245/risk-factors-for-peri-procedural-arterial-ischaemic-stroke-in-children-with-cardiac-disease
#17
Hiroko Asakai, Belinda Stojanovski, John C Galati, Dianna Zannino, Michael Cardamone, Darren Hutchinson, Michael M H Cheung, Mark T Mackay
Improved survival of children with congenital heart disease has led to increasing focus on neurodevelopmental outcome, as close to half of the infants undergoing cardiac surgery are affected by neurodevelopmental disability. Stroke is particularly important as it frequently results in permanent neurologic sequelae. The aim of this study was to investigate risk factors for peri-procedural arterial ischaemic stroke (AIS) in children with cardiac disease. A retrospective case-control analysis of children aged <18 years with radiologically confirmed AIS following a cardiac procedure admitted to the Royal Children's Hospital Melbourne between 1993 and 2010...
July 11, 2017: Pediatric Cardiology
https://www.readbyqxmd.com/read/28693346/cytomegalovirus-cmv-infection-and-pregnancy-potential-for-improvements-in-australasian-maternity-health-providers-knowledge
#18
A W Shand, W Luk, N Nassar, L Hui, K Dyer, W Rawlinson
PURPOSE: To assess the knowledge, practice and attitudes of maternity clinicians regarding congenital cytomegalovirus (CMV). It is the most common congenital infection, and well-recognized cause of neurodevelopmental disability and hearing loss. New consensus recommendations state all pregnant women and health-care providers should be educated about congenital CMV infection and preventive measures. MATERIALS AND METHODS: An email questionnaire was distributed in October 2015 to specialists, diplomates (general practitioners), and trainees of the Royal Australian New Zealand College of Obstetricians and Gynaecologists (RANZCOG), and Victorian and New South Wales midwives...
July 11, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28691782/a-novel-microduplication-of-arid1b-clinical-genetic-and-proteomic-findings
#19
Catarina M Seabra, Nicholas Szoko, Serkan Erdin, Ashok Ragavendran, Alexei Stortchevoi, Patrícia Maciel, Kathleen Lundberg, Daniela Schlatzer, Janice Smith, Michael E Talkowski, James F Gusella, Marvin R Natowicz
Genetic alterations of ARID1B have been recently recognized as one of the most common mendelian causes of intellectual disability and are associated with both syndromic and non-syndromic phenotypes. The ARID1B protein, a subunit of the chromatin remodeling complex SWI/SNF-A, is involved in the regulation of transcription and multiple downstream cellular processes. We report here the clinical, genetic, and proteomic phenotypes of an individual with a unique apparent de novo mutation of ARID1B due to an intragenic duplication...
July 10, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28688003/increased-training-intensity-induces-proper-membrane-localization-of-actin-remodeling-proteins-in-the-hippocampus-preventing-cognitive-deficits-implications-for-fragile-x-syndrome
#20
L A Martinez, Maria Victoria Tejada-Simon
Behavioral intervention therapy has proven beneficial in the treatment of autism and intellectual disabilities (ID), raising the possibility of certain changes in molecular mechanisms activated by these interventions that may promote learning. Fragile X syndrome (FXS) is a neurodevelopmental disorder characterized by autistic features and intellectual disability and can serve as a model to examine mechanisms that promote learning. FXS results from mutations in the fragile X mental retardation 1 gene (Fmr1) that prevents expression of the Fmr1 protein (FMRP), a messenger RNA (mRNA) translation regulator at synapses...
July 8, 2017: Molecular Neurobiology
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