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neurodevelopmental disabilities

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https://www.readbyqxmd.com/read/28642374/behavioral-patterns-in-adolescents-born-at-23-to-25-weeks-of-gestation
#1
Maria Samuelsson, Antti Holsti, Marie Adamsson, Fredrik Serenius, Bruno Hägglöf, Aijaz Farooqi
BACKGROUND: This study examined mental health outcomes in extremely preterm children (EPT) born at 23 to 25 weeks of gestation between 1992 and 1998 at 2 Swedish tertiary care centers that offered regional and active perinatal care to all live-born EPT infants. METHODS: We assessed 132 (98%) of the 134 EPT survivors at 10 to 15 years of age alongside term-born controls. Behavioral and emotional problems were evaluated by using Achenbach's Child Behavior Checklist and Teacher Report Form and Conners' Parent and Teacher scales for attention-deficit/hyperactivity disorder...
June 22, 2017: Pediatrics
https://www.readbyqxmd.com/read/28641213/measurement-properties-of-screening-and-diagnostic-tools-for-autism-spectrum-adults-of-mean-normal-intelligence-a-systematic-review
#2
A Baghdadli, F Russet, L Mottron
BACKGROUND: The autism spectrum (AS) is a multifaceted neurodevelopmental variant associated with lifelong challenges. Despite the relevant importance of identifying AS in adults for epidemiological, public health, and quality of life issues, the measurement properties of the tools currently used to screen and diagnose adults without intellectual disabilities (ID) have not been assessed. OBJECTIVES: This systematic review addresses the accuracy, reliability, and validity of the reported AS screening and diagnostic tools used in adults without ID...
May 17, 2017: European Psychiatry: the Journal of the Association of European Psychiatrists
https://www.readbyqxmd.com/read/28641168/aicardi-syndrome-and-cognitive-abilities-a-report-of-five-cases
#3
Mia Tuft, Ylva Østby, Karl O Nakken, Caroline Lund
Aicardi syndrome is a rare neurodevelopmental disorder with agenesis of corpus callosum, chorioretinal lacunae, and infantile spasms as the main features. The outcome is in general severe, with poor cognitive development and difficult-to-treat epilepsy. In this study, we assessed the level of cognitive function of five girls with Aicardi syndrome, using normed population based tests and questionnaires. Their cognitive abilities varied from mild to profound intellectual disabilities. The more severe the epilepsy, the poorer were the cognitive skills...
June 19, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28640668/absence-of-the-fragile-x-mental-retardation-protein-results-in-defects-of-rna-editing-of-neuronal-mrnas-in-mouse
#4
Alice Filippini, Daniela Bonini, Caroline Lacoux, Laura Pacini, Maria Zingariello, Laura Sancillo, Daniela Bosisio, Valentina Salvi, Jessica Mingardi, Luca La Via, Francesca Zalfa, Claudia Bagni, Alessandro Barbon
The fragile X syndrome (FXS), the most common form of inherited intellectual disability, is due to the absence of FMRP, a protein regulating RNA metabolism. Recently, an unexpected function of FMRP in modulating the activity of Adenosine Deaminase Acting on RNA (ADAR) enzymes has been reported both in Drosophila and Zebrafish. ADARs are RNA-binding proteins that increase transcriptional complexity through a post-transcriptional mechanism called RNA editing. In order to evaluate the ADAR2-FMRP interaction in mammals we analysed several RNA editing re-coding sites in the fmr1 knockout (KO) mice...
June 22, 2017: RNA Biology
https://www.readbyqxmd.com/read/28640243/in-depth-investigations-of-adolescents-and-adults-with-holoprosencephaly-identify-unique-characteristics
#5
Karin Weiss, Paul Kruszka, Maria J Guillen Sacoto, Yonit A Addissie, Donald W Hadley, Casey K Hadsall, Bethany Stokes, Ping Hu, Erich Roessler, Beth Solomon, Edythe Wiggs, Audrey Thurm, Robert B Hufnagel, Wadih M Zein, Jin S Hahn, Elaine Stashinko, Eric Levey, Debbie Baldwin, Nancy J Clegg, Mauricio R Delgado, Maximilian Muenke
PurposeWith improved medical care, some individuals with holoprosencephaly (HPE) are surviving into adulthood. We investigated the clinical manifestations of adolescents and adults with HPE and explored the underlying molecular causes.MethodsParticipants included 20 subjects 15 years of age and older. Clinical assessments included dysmorphology exams, cognitive testing, swallowing studies, ophthalmic examination, and brain magnetic resonance imaging. Genetic testing included chromosomal microarray, Sanger sequencing for SHH, ZIC2, SIX3, and TGIF, and whole-exome sequencing (WES) of 10 trios...
June 22, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28630658/evidence-of-mitochondrial-dysfunction-in-autism-biochemical-links-genetic-based-associations-and-non-energy-related-mechanisms
#6
REVIEW
Keren K Griffiths, Richard J Levy
Autism spectrum disorder (ASD), the fastest growing developmental disability in the United States, represents a group of neurodevelopmental disorders characterized by impaired social interaction and communication as well as restricted and repetitive behavior. The underlying cause of autism is unknown and therapy is currently limited to targeting behavioral abnormalities. Emerging studies suggest a link between mitochondrial dysfunction and ASD. Here, we review the evidence demonstrating this potential connection...
2017: Oxidative Medicine and Cellular Longevity
https://www.readbyqxmd.com/read/28628100/hotspots-of-missense-mutation-identify-neurodevelopmental-disorder-genes-and-functional-domains
#7
Madeleine R Geisheker, Gabriel Heymann, Tianyun Wang, Bradley P Coe, Tychele N Turner, Holly A F Stessman, Kendra Hoekzema, Malin Kvarnung, Marie Shaw, Kathryn Friend, Jan Liebelt, Christopher Barnett, Elizabeth M Thompson, Eric Haan, Hui Guo, Britt-Marie Anderlid, Ann Nordgren, Anna Lindstrand, Geert Vandeweyer, Antonino Alberti, Emanuela Avola, Mirella Vinci, Stefania Giusto, Tiziano Pramparo, Karen Pierce, Srinivasa Nalabolu, Jacob J Michaelson, Zdenek Sedlacek, Gijs W E Santen, Hilde Peeters, Hakon Hakonarson, Eric Courchesne, Corrado Romano, R Frank Kooy, Raphael A Bernier, Magnus Nordenskjöld, Jozef Gecz, Kun Xia, Larry S Zweifel, Evan E Eichler
Although de novo missense mutations have been predicted to account for more cases of autism than gene-truncating mutations, most research has focused on the latter. We identified the properties of de novo missense mutations in patients with neurodevelopmental disorders (NDDs) and highlight 35 genes with excess missense mutations. Additionally, 40 amino acid sites were recurrently mutated in 36 genes, and targeted sequencing of 20 sites in 17,688 patients with NDD identified 21 new patients with identical missense mutations...
June 19, 2017: Nature Neuroscience
https://www.readbyqxmd.com/read/28626596/management-of-severe-developmental-regression-in-an-autistic-child-with-a-1q21-3-microdeletion-and-self-injurious-blindness
#8
Cora Cravero, Vincent Guinchat, Jean Xavier, Camille Meunier, Lautaro Diaz, Cyril Mignot, Diane Doummar, Sandra Chantot-Bastaraud, Angèle Consoli, David Cohen
We report the case of a young boy with nonverbal autism and intellectual disability, with a rare de novo 1q21.3 microdeletion. The patient had early and extreme self-injurious behaviours that led to blindness, complicated by severe developmental regression. A significant reduction in the self-injurious behaviours and the recovery of developmental dynamics were attained in a multidisciplinary neurodevelopmental inpatient unit. Improvement was obtained after managing all causes of somatic pains, using opiate blockers and stabilizing the patient's mood...
2017: Case Reports in Psychiatry
https://www.readbyqxmd.com/read/28626360/delays-and-disabilities-np-screening-and-care-management
#9
Shannon H Ford, Hyunkyung Choi, Susan Brunssen, Marcia Van Riper
Neurodevelopmental Disorders (ND) impair functioning and are associated with increased physical and psychological health risks. ND care is increasingly being provided by NPs in primary care settings. To assess NP's knowledge and care management practices for pediatric patients with potential or existing ND, practicing NPs in North Carolina were invited to complete an online survey. NC NP's provide care to ND patients in a variety of settings and have varied levels of experience with ND. Differences in knowledge, screening, and management practices are identified...
February 2017: Journal for Nurse Practitioners: JNP
https://www.readbyqxmd.com/read/28612834/sex-chromosome-aneuploidies-and-copy-number-variants-a-further-explanation-for-neurodevelopmental-prognosis-variability
#10
Jessica Le Gall, Mathilde Nizon, Olivier Pichon, Joris Andrieux, Séverine Audebert-Bellanger, Sabine Baron, Claire Beneteau, Frédéric Bilan, Odile Boute, Tiffany Busa, Valérie Cormier-Daire, Claude Ferec, Mélanie Fradin, Brigitte Gilbert-Dussardier, Sylvie Jaillard, Aia Jønch, Dominique Martin-Coignard, Sandra Mercier, Sébastien Moutton, Caroline Rooryck, Elise Schaefer, Marie Vincent, Damien Sanlaville, Cédric Le Caignec, Sébastien Jacquemont, Albert David, Bertrand Isidor
Sex chromosome aneuploidies (SCA) is a group of conditions in which individuals have an abnormal number of sex chromosomes. SCA, such as Klinefelter's syndrome, XYY syndrome, and Triple X syndrome are associated with a large range of neurological outcome. Another genetic event such as another cytogenetic abnormality may explain a part of this variable expressivity. In this study, we have recruited fourteen patients with intellectual disability or developmental delay carrying SCA associated with a copy-number variant (CNV)...
June 14, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28609302/association-between-exposure-of-young-children-to-procedures-requiring-general-anesthesia-and-learning-and-behavioral-outcomes-in-a-population-based-birth-cohort
#11
Danqing Hu, Randall P Flick, Michael J Zaccariello, Robert C Colligan, Slavica K Katusic, Darrell R Schroeder, Andrew C Hanson, Shonie L Buenvenida, Stephen J Gleich, Robert T Wilder, Juraj Sprung, David O Warner
BACKGROUND: Exposure of young animals to general anesthesia causes neurodegeneration and lasting behavioral abnormalities; whether these findings translate to children remains unclear. This study used a population-based birth cohort to test the hypothesis that multiple, but not single, exposures to procedures requiring general anesthesia before age 3 yr are associated with adverse neurodevelopmental outcomes. METHODS: A retrospective study cohort was assembled from children born in Olmsted County, Minnesota, from 1996 to 2000 (inclusive)...
June 13, 2017: Anesthesiology
https://www.readbyqxmd.com/read/28607211/consensus-statement-of-the-indian-academy-of-pediatrics-on-newborn-hearing-screening
#12
Abraham Paul, Chhaya Prasad, S S Kamath, Samir Dalwai, M K C Nair, Waheeda Pagarkar
JUSTIFICATION: Hearing impairment is one of the most critical sensory impairments with significant social and psychological consequences. Reported incidence of congenital hearing loss is 30 per 10,000 children. Evidence-based, standardized national guidelines are needed for professionals to screen for hearing impairment during the neonatal period. PROCESS: The meeting on formulation of national consensus guidelines on developmental disorders was organized by Indian Academy of Pediatrics in Mumbai, on 18th and 19th December, 2015...
June 4, 2017: Indian Pediatrics
https://www.readbyqxmd.com/read/28602046/exercise-interventions-for-cerebral-palsy
#13
REVIEW
Jennifer M Ryan, Elizabeth E Cassidy, Stephen G Noorduyn, Neil E O'Connell
BACKGROUND: Cerebral palsy (CP) is a neurodevelopmental disorder resulting from an injury to the developing brain. It is the most common form of childhood disability with prevalence rates of between 1.5 and 3.8 per 1000 births reported worldwide. The primary impairments associated with CP include reduced muscle strength and reduced cardiorespiratory fitness, resulting in difficulties performing activities such as dressing, walking and negotiating stairs.Exercise is defined as a planned, structured and repetitive activity that aims to improve fitness, and it is a commonly used intervention for people with CP...
June 11, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28588433/intragenic-cntnap2-deletions-a-bridge-too-far
#14
REVIEW
Martin Poot
Intragenic deletions of the contactin-associated protein-like 2 gene (CNTNAP2) have been found in patients with Gilles de la Tourette syndrome, intellectual disability (ID), obsessive compulsive disorder, cortical dysplasia-focal epilepsy syndrome, autism, schizophrenia, Pitt-Hopkins syndrome, stuttering, and attention deficit hyperactivity disorder. A variety of molecular mechanisms, such as loss of transcription factor binding sites and perturbation of penetrance and expressivity, have been proposed to account for the phenotypic variability resulting from CNTNAP2 mutations...
May 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/28586261/modulation-of-reward-in-a-live-social-context-as-revealed-through-interactive-social-neuroscience
#15
Max J Rolison, Adam J Naples, Helena J V Rutherford, James C McPartland
Social neuroscience research investigating autism spectrum disorder (ASD) has yielded inconsistent findings, despite ASD being well-characterized by difficulties in social interaction and communication through behavioral observation. In particular, specific etiologies and functional and structural assays of the brain in autism have not been consistently identified. To date, most social neuroscience research has focused on a single person viewing static images. Research utilizing interactive social neuroscience featuring dual-brain recording offers great promise for the study of neurodevelopmental disabilities...
June 14, 2017: Social Neuroscience
https://www.readbyqxmd.com/read/28585349/csnk2b-splice-site-mutations-in-patients-cause-intellectual-disability-with-or-without-myoclonic-epilepsy
#16
Karine Poirier, Laurence Hubert, Géraldine Viot, Marlène Rio, Pierre Billuart, Claude Besmond, Thierry Bienvenu
De novo mutations are a frequent cause of disorders related to brain development. We report the results from the screening of two patients diagnosed with intellectual disability (ID) using exome sequencing to identify new causative de novo mutations. Exome sequencing was conducted in two patient-parent trios to identify de novovariants. In silico and expression studies were also performed to evaluate the functional consequences of these variants.The two patients presented developmental delay with minor facial dysmorphy...
June 6, 2017: Human Mutation
https://www.readbyqxmd.com/read/28580593/refining-the-pediatric-evaluation-of-disability-inventory-patient-reported-outcome-pedi-pro-item-candidates-interpretation-of-a-self-reported-outcome-measure-of-functional-performance-by-young-people-with-neurodevelopmental-disabilities
#17
Jessica M Kramer, Ariel Schwartz
AIM: This study examined the item interpretability and rating scale use of the Pediatric Evaluation of Disability Inventory-Patient-Reported Outcome (PEDI-PRO) by young people with developmental disabilities. The PEDI-PRO assesses the functional performance of discrete functional tasks in the context of everyday life situations. METHOD: A two-phase cognitive interview design was implemented with a convenience sample of 37 young people (mean age 19y, SD 2y 5mo; 13 males and 24 females; 68% with intellectual disability) with developmental disabilities...
June 5, 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/28580361/neuroprotection-via-rna-binding-protein-rbm3-expression-is-regulated-by-hypothermia-but-not-by-hypoxia-in-human-sk-n-sh-neurons
#18
Lisa-Maria Rosenthal, Giang Tong, Christoph Walker, Sylvia J Wowro, Jana Krech, Constanze Pfitzer, Georgia Justus, Felix Berger, Katharina Rose Luise Schmitt
OBJECTIVE: Therapeutic hypothermia is an established treatment for perinatal asphyxia. Yet, many term infants continue to die or suffer from neurodevelopmental disability. Several experimental studies have demonstrated a beneficial effect of mild-to-moderate hypothermia after hypoxic injury, but the understanding of hypothermia-induced neuroprotection remains incomplete. In general, global protein synthesis is attenuated by hypothermia, but a small group of RNA-binding proteins including the RNA-binding motif 3 (RBM3) is upregulated in response to cooling...
2017: Hypoxia
https://www.readbyqxmd.com/read/28577610/feeding-disorders
#19
REVIEW
Natalie Morris, Rachel M Knight, Teryn Bruni, Laura Sayers, Amy Drayton
Feeding disorders often present in children with complex medical histories as well as those with neurodevelopmental disabilities. If untreated, feeding problems will likely persist and may lead to additional developmental and medical complications. Treatment of pediatric feeding disorders should involve an interdisciplinary team, but the core intervention should include behavioral feeding techniques as they are the only empirically supported therapy for feeding disorders.
July 2017: Child and Adolescent Psychiatric Clinics of North America
https://www.readbyqxmd.com/read/28577608/intellectual-disability-and-language-disorder
#20
REVIEW
Natasha Marrus, Lacey Hall
Intellectual disability (ID) and language disorders are neurodevelopmental conditions arising in early childhood. Child psychiatrists are likely to encounter children with ID and language disorders because both are strongly associated with challenging behaviors and mental disorder. Because early intervention is associated with optimal outcomes, child psychiatrists must be aware of their signs and symptoms, particularly as related to delays in cognitive and adaptive function. Optimal management of both ID and language disorders requires a multidisciplinary, team-based, and family centered approach...
July 2017: Child and Adolescent Psychiatric Clinics of North America
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