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https://www.readbyqxmd.com/read/28088401/pharmacological-rescue-of-adult-hippocampal-neurogenesis-in-a-mouse-model-of-x-linked-intellectual-disability
#1
Manuela Allegra, Cristina Spalletti, Beatrice Vignoli, Stefano Azzimondi, Irene Busti, Pierre Billuart, Marco Canossa, Matteo Caleo
Oligophrenin-1 (OPHN1) is a Rho GTPase activating protein whose mutations cause X-linked intellectual disability (XLID). How loss of function of Ophn1 affects neuronal development is only partly understood. Here we have exploited adult hippocampal neurogenesis to dissect the steps of neuronal differentiation that are affected by Ophn1 deletion. We found that mice lacking Ophn1 display a reduction in the number of newborn neurons in the dentate gyrus. A significant fraction of the Ophn1-deficient newly generated neurons failed to extend an axon towards CA3, and showed an altered density of dendritic protrusions...
January 11, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28073351/exploring-neurodevelopmental-outcome-measures-used-in-children-with-cerebral-malaria-the-perspectives-of-caregivers-and-health-workers-in-malawi
#2
Emmie W Mbale, Terrie Taylor, Bernard Brabin, Macpherson Mallewa, Melissa Gladstone
BACKGROUND: Progress has been made in tackling malaria however there are still over 207 million cases worldwide, the majority in children. As survival rates improve, numbers of children with long-term neurodisabling sequelae are likely to increase. Most outcome studies in cerebral malaria (CM) have focused only on body function and structure and less on outcomes within the broader framework of the International Classification of Functioning and Disability (ICF). The aim of this study was to utilise qualitative methods to identify relevant clinical outcomes in CM to support formulation of a core outcome set relevant to CM and other acquired brain injuries for use in future clinical trials...
January 10, 2017: BMC Pediatrics
https://www.readbyqxmd.com/read/28071689/haploinsufficiency-of-ehmt1-improves-pattern-separation-and-increases-hippocampal-cell-proliferation
#3
Marco Benevento, Charlotte A Oomen, Alexa E Horner, Houshang Amiri, Tessa Jacobs, Charlotte Pauwels, Monica Frega, Tjitske Kleefstra, Maksym V Kopanitsa, Seth G N Grant, Timothy J Bussey, Lisa M Saksida, Catharina E E M Van der Zee, Hans van Bokhoven, Jeffrey C Glennon, Nael Nadif Kasri
Heterozygous mutations or deletions of the human Euchromatin Histone Methyltransferase 1 (EHMT1) gene are the main causes of Kleefstra syndrome, a neurodevelopmental disorder that is characterized by impaired memory, autistic features and mostly severe intellectual disability. Previously, Ehmt1(+/-) heterozygous knockout mice were found to exhibit cranial abnormalities and decreased sociability, phenotypes similar to those observed in Kleefstra syndrome patients. In addition, Ehmt1(+/-) knockout mice were impaired at fear extinction and novel- and spatial object recognition...
January 10, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28068486/the-changing-epidemiology-of-autism-spectrum-disorders
#4
Kristen Lyall, Lisa Croen, Julie Daniels, M Daniele Fallin, Christine Ladd-Acosta, Brian K Lee, Bo Y Park, Nathaniel W Snyder, Diana Schendel, Heather E Volk, Gayle C Windham, Craig Newschaffer
Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with lifelong impacts. Genetic and environmental factors contribute to ASD etiology, which remains incompletely understood. Research on ASD epidemiology has made significant advances in the past decade. Current prevalence is estimated to be at least 1.5% in developed countries, with recent increases primarily among those without comorbid intellectual disability. Genetic studies have identified a number of rare de novo mutations and gained footing in the areas of polygenic risk, epigenetics, and gene-by-environment interaction...
December 21, 2016: Annual Review of Public Health
https://www.readbyqxmd.com/read/28064285/unusual-duplication-in-the-pericentromeric-region-of-chromosome-9-in-a-patient-with-phenotypic-alterations
#5
Andréa C M Malinverni, Mileny E Colovati, Ana B A Perez, Thamy P Caneloi, Hélio R Oliveira, Nadezda Kosyakova, Thomas Liehr, Ahmed B Hamid, Maria I Melaragno
Several alterations involving the pericentromeric region of chromosome 9 are considered as normal population variants. These heterochromatic variants or heteromorphisms can include 9qh+, 9cen+, 9ph+, 9ph-, inv(9)(p11q13), and other patterns which can only be defined by FISH studies. However, some heteromorphisms have been found more frequently in patients with several clinical disorders. Here, we report on a patient with intellectual disability, language and neurodevelopmental delay, as well as facial dysmorphism and an unusual chromosome 9...
January 7, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28064060/a-current-view-on-contactin-4-5-and-6-implications-in-neurodevelopmental-disorders
#6
REVIEW
Oguro-Ando Asami, Amila Zuko, Kristel T E Kleijer, J Peter H Burbach
Contactins (Cntns) are a six-member subgroup of the immunoglobulin cell adhesion molecule superfamily (IgCAMs) with pronounced brain expression and function. Recent genetic studies of neuropsychiatric disorders have pinpointed contactin-4 (CNTN4), contactin-5 (CNTN5) and contactin-6 (CNTN6) as candidate genes in neurodevelopmental disorders, particularly in autism spectrum disorders (ASDs), but also in intellectual disability, schizophrenia (SCZ), attention-deficit hyperactivity disorder (ADHD), bipolar disorder (BD), alcohol use disorder (AUD) and anorexia nervosa (AN)...
January 4, 2017: Molecular and Cellular Neurosciences
https://www.readbyqxmd.com/read/28057268/control-of-neuronal-development-by-t-box-genes-in-the-brain
#7
A B Mihalas, R F Hevner
T-box transcription factors play key roles in the regulation of developmental processes such as cell differentiation and migration. Mammals have 17 T-box genes, of which several regulate brain development. The Tbr1 subfamily of T-box genes is particularly important in development of the cerebral cortex, olfactory bulbs (OBs), and cerebellum. This subfamily is comprised of Tbr1, Tbr2 (also known as Eomes), and Tbx21. In developing cerebral cortex, Tbr2 and Tbr1 are expressed during successive stages of differentiation in the pyramidal neuron lineage, from Tbr2+ intermediate progenitors to Tbr1+ postmitotic glutamatergic neurons...
2017: Current Topics in Developmental Biology
https://www.readbyqxmd.com/read/28056166/nitric-oxide-for-respiratory-failure-in-infants-born-at-or-near-term
#8
REVIEW
Keith J Barrington, Neil Finer, Thomas Pennaforte, Gabriel Altit
BACKGROUND: Nitric oxide (NO) is a major endogenous regulator of vascular tone. Inhaled nitric oxide (iNO) gas has been investigated as treatment for persistent pulmonary hypertension of the newborn. OBJECTIVES: To determine whether treatment of hypoxaemic term and near-term newborn infants with iNO improves oxygenation and reduces rate of death and use of extracorporeal membrane oxygenation (ECMO), or affects long-term neurodevelopmental outcomes. SEARCH METHODS: We used the standard search strategy of the Cochrane Neonatal Review Group to search the Cochrane Central Register of Controlled Trials (CENTRAL; 2016, Issue 1), MEDLINE via PubMed (1966 to January 2016), Embase (1980 to January 2016) and the Cumulative Index to Nursing and Allied Health Literature (CINAHL; 1982 to January 2016)...
January 5, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28053551/genetics-of-tuberous-sclerosis-complex-implications-for-clinical-practice
#9
REVIEW
Carolina Caban, Nubaira Khan, Daphne M Hasbani, Peter B Crino
Tuberous sclerosis complex (TSC) is a multisystem disorder that results from heterozygous mutations in either TSC1 or TSC2. The primary organ systems that are affected include the brain, skin, lung, kidney, and heart, all with variable frequency, penetrance, and severity. Neurological features include epilepsy, autism, and intellectual disability. There are more than 1,500 known pathogenic variants for TSC1 and TSC2, including deletion, nonsense, and missense mutations, and all pathogenic mutations are inactivating, leading to loss of function effects on the encoded proteins TSC1 and TSC2...
2017: Application of Clinical Genetics
https://www.readbyqxmd.com/read/28053283/co-morbidity-in-attention-deficit-hyperactivity-disorder-a-clinical-study-from-india
#10
P Jacob, S Srinath, S Girimaji, S Seshadri, J V Sagar
OBJECTIVE: To assess the prevalence of neurodevelopmental and psychiatric co-morbidities in children and adolescents diagnosed with attention-deficit hyperactivity disorder at a tertiary care child and adolescent psychiatry centre. METHODS: A total of 63 children and adolescents who were diagnosed with attention-deficit hyperactivity disorder and fulfilled the inclusion criteria were comprehensively assessed for neurodevelopmental and psychiatric co-morbidities...
December 2016: East Asian Archives of Psychiatry: Official Journal of the Hong Kong College of Psychiatrists
https://www.readbyqxmd.com/read/28051072/novel-homozygous-missense-variant-of-grin1-in-two-sibs-with-intellectual-disability-and-autistic-features-without-epilepsy
#11
Massimiliano Rossi, Nicolas Chatron, Audrey Labalme, Dorothée Ville, Maryline Carneiro, Patrick Edery, Vincent des Portes, Johannes R Lemke, Damien Sanlaville, Gaetan Lesca
We report on two consanguineous sibs affected with severe intellectual disability and autistic features due to a homozygous missense variant of GRIN1. Massive parallel sequencing was performed using a gene panel including 450 genes related to intellectual disability and autism spectrum disorders. We found a homozygous missense variation of GRIN1 (c.679G>C; p.(Asp227His)) in the two affected sibs, which was inherited from both unaffected heterozygous parents. Heterozygous variants of GRIN1, encoding the GluN1 subunit of the NMDA receptor, have been reported in patients with neurodevelopmental disorders including epileptic encephalopathy, severe intellectual disability, and movement disorders...
January 4, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28046103/transcriptome-profiling-identifies-ribosome-biogenesis-as-a-target-of-alcohol-teratogenicity-and-vulnerability-during-early-embryogenesis
#12
Mark E Berres, Ana Garic, George R Flentke, Susan M Smith
Fetal alcohol spectrum disorder (FASD) is a leading cause of neurodevelopmental disability. Individuals with FASD may exhibit a characteristic facial appearance that has diagnostic utility. The mechanism by which alcohol disrupts craniofacial development is incompletely understood, as are the genetic factors that can modify individual alcohol vulnerability. Using an established avian model, we characterized the cranial transcriptome in response to alcohol to inform the mechanism underlying these cells' vulnerability...
2017: PloS One
https://www.readbyqxmd.com/read/28042670/the-genetic-basis-of-cerebral-palsy
#13
REVIEW
Michael C Fahey, Alastair H Maclennan, Doris Kretzschmar, Jozef Gecz, Michael C Kruer
Although prematurity and hypoxic-ischaemic injury are well-recognized contributors to the pathogenesis of cerebral palsy (CP), as many as one-third of children with CP may lack traditional risk factors. For many of these children, a genetic basis to their condition is suspected. Recent findings have implicated copy number variants and mutations in single genes in children with CP. Current studies are limited by relatively small patient numbers, the underlying genetic heterogeneity identified, and the paucity of validation studies that have been performed...
January 1, 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/28041919/negative-subthreshold-psychotic-symptoms-distinguish-22q11-2-deletion-syndrome-from-other-neurodevelopmental-disorders-a-two-site-study
#14
Ehud Mekori-Domachevsky, Yael Guri, James Yi, Omri Weisman, Monica E Calkins, Sunny X Tang, Raz Gross, Donna M McDonald-McGinn, Beverly S Emanuel, Elaine H Zackai, Gil Zalsman, Abraham Weizman, Ruben C Gur, Raquel E Gur, Doron Gothelf
About one third of individuals with 22q11.2 deletion syndrome (22q11.2DS) develop schizophrenia. Notably, a full-blown psychotic disorder is usually preceded by subthreshold symptoms. Therefore, it is important to identify early signs of psychosis in this population, a task that is complicated by the intellectual disabilities typically seen in 22q11.2DS. We aimed to identify subthreshold psychotic symptoms that distinguish 22q11.2DS from other neurodevelopmental disorders. The study included two independent cohorts from Tel Aviv and Philadelphia...
December 29, 2016: Schizophrenia Research
https://www.readbyqxmd.com/read/28025777/brain-development-and-akt-signaling-the-crossroads-of-signaling-pathway-and-neurodevelopmental-diseases
#15
REVIEW
Long Wang, Kai Zhou, Zhi Fu, Di Yu, Hesuyuan Huang, Xiaodong Zang, Xuming Mo
Neurodevelopmental biology, coupled with the application of advanced histological, imaging, molecular, cellular, biochemical, and genetic approaches, has provided new insights into these intricate genetic, cellular, and molecular events. During telencephalic development, specific neural progenitor cells (NPCs) proliferate, differentiate into numerous cell types, migrate to their apposite positions, and form an integrated circuitry. Critical disturbance to this dynamic process via genetic and environmental risk can cause neurological disorders and disability...
December 26, 2016: Journal of Molecular Neuroscience: MN
https://www.readbyqxmd.com/read/28018896/factors-influencing-neurodevelopment-after-cardiac-surgery-during-infancy
#16
REVIEW
Hedwig Hubertine Hövels-Gürich
Short- and long-term neurodevelopmental (ND) disabilities with negative impact on psychosocial and academic performance, quality of life, and independence in adulthood are known to be the most common sequelae for surviving children after surgery for congenital heart disease (CHD). This article reviews influences and risk factors for ND impairment. For a long time, the search for independent risk factors was focused on the perioperative period and modalities of cardiopulmonary bypass (CPB). CPB operations to ensure intraoperative vital organ perfusion and oxygen supply with or without circulatory arrest or regional cerebral perfusion bear specific risks...
2016: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28017373/mutations-in-ebf3-disturb-transcriptional-profiles-and-cause-intellectual-disability-ataxia-and-facial-dysmorphism
#17
Frederike Leonie Harms, Katta M Girisha, Andrew A Hardigan, Fanny Kortüm, Anju Shukla, Malik Alawi, Ashwin Dalal, Lauren Brady, Mark Tarnopolsky, Lynne M Bird, Sophia Ceulemans, Martina Bebin, Kevin M Bowling, Susan M Hiatt, Edward J Lose, Michelle Primiano, Wendy K Chung, Jane Juusola, Zeynep C Akdemir, Matthew Bainbridge, Wu-Lin Charng, Margaret Drummond-Borg, Mohammad K Eldomery, Ayman W El-Hattab, Mohammed A M Saleh, Stéphane Bézieau, Benjamin Cogné, Bertrand Isidor, Sébastien Küry, James R Lupski, Richard M Myers, Gregory M Cooper, Kerstin Kutsche
From a GeneMatcher-enabled international collaboration, we identified ten individuals affected by intellectual disability, speech delay, ataxia, and facial dysmorphism and carrying a deleterious EBF3 variant detected by whole-exome sequencing. One 9-bp duplication and one splice-site, five missense, and two nonsense variants in EBF3 were found; the mutations occurred de novo in eight individuals, and the missense variant c.625C>T (p.Arg209Trp) was inherited by two affected siblings from their healthy mother, who is mosaic...
January 5, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28017372/a-syndromic-neurodevelopmental-disorder-caused-by-de-novo-variants-in-ebf3
#18
Hsiao-Tuan Chao, Mariska Davids, Elizabeth Burke, John G Pappas, Jill A Rosenfeld, Alexandra J McCarty, Taylor Davis, Lynne Wolfe, Camilo Toro, Cynthia Tifft, Fan Xia, Nicholas Stong, Travis K Johnson, Coral G Warr, Shinya Yamamoto, David R Adams, Thomas C Markello, William A Gahl, Hugo J Bellen, Michael F Wangler, May Christine V Malicdan
Early B cell factor 3 (EBF3) is a member of the highly evolutionarily conserved Collier/Olf/EBF (COE) family of transcription factors. Prior studies on invertebrate and vertebrate animals have shown that EBF3 homologs are essential for survival and that loss-of-function mutations are associated with a range of nervous system developmental defects, including perturbation of neuronal development and migration. Interestingly, aristaless-related homeobox (ARX), a homeobox-containing transcription factor critical for the regulation of nervous system development, transcriptionally represses EBF3 expression...
January 5, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28017370/de-novo-mutations-in-ebf3-cause-a-neurodevelopmental-syndrome
#19
Hannah Sleven, Seth J Welsh, Jing Yu, Mair E A Churchill, Caroline F Wright, Alex Henderson, Rita Horvath, Julia Rankin, Julie Vogt, Alex Magee, Vivienne McConnell, Andrew Green, Mary D King, Helen Cox, Linlea Armstrong, Anna Lehman, Tanya N Nelson, Jonathan Williams, Penny Clouston, James Hagman, Andrea H Németh
Early B cell factor 3 (EBF3) is an atypical transcription factor that is thought to influence the laminar formation of the cerebral cortex. Here, we report that de novo mutations in EBF3 cause a complex neurodevelopmental syndrome. The mutations were identified in two large-scale sequencing projects: the UK Deciphering Developmental Disorders (DDD) study and the Canadian Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) study. The core phenotype includes moderate to severe intellectual disability, and many individuals exhibit cerebellar ataxia, subtle facial dysmorphism, strabismus, and vesicoureteric reflux, suggesting that EBF3 has a widespread developmental role...
January 5, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28011793/protecting-the-premature-brain-current-evidence-based-strategies-for-minimising-perinatal-brain-injury-in-preterm-infants
#20
Charlotte L Lea, Adam Smith-Collins, Karen Luyt
Improving neurodevelopmental outcome for preterm infants is an important challenge for neonatal medicine. The disruption of normal brain growth and neurological development is a significant consequence of preterm birth and can result in physical and cognitive impairments. While advances in neonatal medicine have led to progressively better survival rates for preterm infants, there has only been a modest improvement in the proportion of surviving infants without neurological impairment, and no change in the proportion with severe disability...
December 23, 2016: Archives of Disease in Childhood. Fetal and Neonatal Edition
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