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https://www.readbyqxmd.com/read/28213671/exome-analysis-of-smith-magenis-like-syndrome-cohort-identifies-de-novo-likely-pathogenic-variants
#1
Seth I Berger, Carla Ciccone, Karen L Simon, May Christine Malicdan, Thierry Vilboux, Charles Billington, Roxanne Fischer, Wendy J Introne, Andrea Gropman, Jan K Blancato, James C Mullikin, William A Gahl, Marjan Huizing, Ann C M Smith
Smith-Magenis syndrome (SMS), a neurodevelopmental disorder characterized by dysmorphic features, intellectual disability (ID), and sleep disturbances, results from a 17p11.2 microdeletion or a mutation in the RAI1 gene. We performed exome sequencing on 6 patients with SMS-like phenotypes but without chromosomal abnormalities or RAI1 variants. We identified pathogenic de novo variants in two cases, a nonsense variant in IQSEC2 and a missense variant in the SAND domain of DEAF1, and candidate de novo missense variants in an additional two cases...
February 17, 2017: Human Genetics
https://www.readbyqxmd.com/read/28211987/10-year-old-female-with-intragenic-kansl1-mutation-no-kansl1-related-intellectual-disability-and-preserved-verbal-intelligence
#2
Colleen Keen, Carole Samango-Sprouse, Holly Dubbs, Elaine H Zackai
Koolen-de Vries Syndrome (KdVS), also referred to as 17q21.31 microdeletion syndrome, is caused by haploinsufficiency of the KANSL1 gene. This genetic disorder is associated with a clinical phenotype including facial dysmorphism, developmental delay, and friendly disposition, as well as mild-to-moderate intellectual disability. We present the case of a 10 year 8 month old female with KdVS due to a de novo intragenic KANSL1 mutation. At this time, she does not present with intellectual disability, and her verbal intelligence is relatively preserved, although she has perceptual deficits, developmental dyspraxia, and severe speech disorder...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28203607/epigallocatechin-gallate-a-useful-therapy-for-cognitive-disability-in-down-syndrome
#3
Fiorenza Stagni, Andrea Giacomini, Marco Emili, Sandra Guidi, Elisabetta Ciani, Renata Bartesaghi
Neurodevelopmental alterations and cognitive disability are constant features of Down syndrome (DS), a genetic condition due to triplication of chromosome 21. DYRK1A is one of the triplicated genes that is thought to be strongly involved in brain alterations. Treatment of Dyrk1A transgenic mice with epigallocatechin gallate (EGCG), an inhibitor of DYRK1A, improves cognitive performance, suggesting that EGCG may represent a suitable treatment of DS. Evidence in the Ts65Dn mouse model of DS shows that EGCG restores hippocampal development, although this effect is ephemeral...
2017: Neurogenesis (Austin, Tex.)
https://www.readbyqxmd.com/read/28202262/cognitive-and-behavioral-effects-of-new-antiepileptic-drugs-in-pediatric-epilepsy
#4
REVIEW
Romina Moavero, Marta Elena Santarone, Cinzia Galasso, Paolo Curatolo
BACKGROUND: In pediatric epilepsy, neurodevelopmental comorbidities could be sometimes even more disabling than seizures themselves, therefore it is crucial for the clinicians to understand how to benefit these children, and to choose the proper antiepileptic drug for the treatment of epilepsy associated to a specific neurodevelopmental disorder. Aim of this paper is to discuss the potential impact on cognition and behavior of new and newest AEDs and to guide the choice of the clinicians for a targeted use in epilepsy associated with specific neurodevelopmental disorders...
February 12, 2017: Brain & Development
https://www.readbyqxmd.com/read/28198067/verbal-spatial-iq-discrepancies-impact-brain-activation-associated-with-the-resolution-of-cognitive-conflict-in-children-and-adolescents
#5
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/28194288/variability-in-clinical-presentation-of-neonatal-stroke-report-of-four-cases
#6
Sonia Joseph, Dimitrios Angelis, Robert Bennett, Bhargavi Kola, Amanda Hughes
Neonatal stroke can be a cause of long term neurodevelopmental disability, seizures, and impaired cognitive function. We present four cases of neonatal stroke, associated with different risk factors and clinical presentations. Two of these newborns were born to mothers with no prenatal care.
2017: Case Reports in Neurological Medicine
https://www.readbyqxmd.com/read/28191890/refining-the-role-of-de-novo-protein-truncating-variants-in-neurodevelopmental-disorders-by-using-population-reference-samples
#7
Jack A Kosmicki, Kaitlin E Samocha, Daniel P Howrigan, Stephan J Sanders, Kamil Slowikowski, Monkol Lek, Konrad J Karczewski, David J Cutler, Bernie Devlin, Kathryn Roeder, Joseph D Buxbaum, Benjamin M Neale, Daniel G MacArthur, Dennis P Wall, Elise B Robinson, Mark J Daly
Recent research has uncovered an important role for de novo variation in neurodevelopmental disorders. Using aggregated data from 9,246 families with autism spectrum disorder, intellectual disability, or developmental delay, we found that ∼1/3 of de novo variants are independently present as standing variation in the Exome Aggregation Consortium's cohort of 60,706 adults, and these de novo variants do not contribute to neurodevelopmental risk. We further used a loss-of-function (LoF)-intolerance metric, pLI, to identify a subset of LoF-intolerant genes containing the observed signal of associated de novo protein-truncating variants (PTVs) in neurodevelopmental disorders...
February 13, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28191889/targeted-sequencing-identifies-91-neurodevelopmental-disorder-risk-genes-with-autism-and-developmental-disability-biases
#8
Holly A F Stessman, Bo Xiong, Bradley P Coe, Tianyun Wang, Kendra Hoekzema, Michaela Fenckova, Malin Kvarnung, Jennifer Gerdts, Sandy Trinh, Nele Cosemans, Laura Vives, Janice Lin, Tychele N Turner, Gijs Santen, Claudia Ruivenkamp, Marjolein Kriek, Arie van Haeringen, Emmelien Aten, Kathryn Friend, Jan Liebelt, Christopher Barnett, Eric Haan, Marie Shaw, Jozef Gecz, Britt-Marie Anderlid, Ann Nordgren, Anna Lindstrand, Charles Schwartz, R Frank Kooy, Geert Vandeweyer, Celine Helsmoortel, Corrado Romano, Antonino Alberti, Mirella Vinci, Emanuela Avola, Stefania Giusto, Eric Courchesne, Tiziano Pramparo, Karen Pierce, Srinivasa Nalabolu, David G Amaral, Ingrid E Scheffer, Martin B Delatycki, Paul J Lockhart, Fereydoun Hormozdiari, Benjamin Harich, Anna Castells-Nobau, Kun Xia, Hilde Peeters, Magnus Nordenskjöld, Annette Schenck, Raphael A Bernier, Evan E Eichler
Gene-disruptive mutations contribute to the biology of neurodevelopmental disorders (NDDs), but most of the related pathogenic genes are not known. We sequenced 208 candidate genes from >11,730 cases and >2,867 controls. We identified 91 genes, including 38 new NDD genes, with an excess of de novo mutations or private disruptive mutations in 5.7% of cases. Drosophila functional assays revealed a subset with increased involvement in NDDs. We identified 25 genes showing a bias for autism versus intellectual disability and highlighted a network associated with high-functioning autism (full-scale IQ >100)...
February 13, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28191626/intermittent-auscultation-ia-of-fetal-heart-rate-in-labour-for-fetal-well-being
#9
REVIEW
Ruth Martis, Ova Emilia, Detty S Nurdiati, Julie Brown
BACKGROUND: The goal of fetal monitoring in labour is the early detection of a hypoxic baby. There are a variety of tools and methods available for intermittent auscultation (IA) of the fetal heart rate (FHR). Low- and middle-income countries usually have only access to a Pinard/Laënnec or the use of a hand-held Doppler device. Currently, there is no robust evidence to guide clinical practice on the most effective IA tool to use, timing intervals and length of listening to the fetal heart for women during established labour...
February 13, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28180184/a-gain-of-function-mutation-in-the-grik2-gene-causes-neurodevelopmental-deficits
#10
Yomayra F Guzmán, Keri Ramsey, Jacob R Stolz, David W Craig, Mathew J Huentelman, Vinodh Narayanan, Geoffrey T Swanson
OBJECTIVE: To identify inherited or de novo mutations associated with a suite of neurodevelopmental abnormalities in a 10-year-old patient displaying ataxia, motor and speech delay, and intellectual disability. METHODS: We performed whole-exome sequencing of the proband and her parents. A pathogenic gene variant was identified as damaging based on sequence conservation, gene function, and association with disorders having similar phenotypic profiles. Functional characterization of the mutated protein was performed in vitro using a heterologous expression system...
February 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28180026/chromosomal-microarrays-understanding-genetics-of-neurodevelopmental-disorders-and-congenital-anomalies
#11
REVIEW
Jill A Rosenfeld, Ankita Patel
Chromosomal microarray (CMA) testing, used to identify DNA copy number variations (CNVs), has helped advance knowledge about genetics of human neurodevelopmental disease and congenital anomalies. It has aided in discovering new CNV syndromes and uncovering disease genes. It has discovered CNVs that are not fully penetrant and/or cause a spectrum of phenotypes, including intellectual disability, autism, schizophrenia, and dysmorphisms. Such CNVs can pose challenges to genetic counseling. They also have helped increase knowledge of genetic risk factors for neurodevelopmental disease and raised awareness of possible shared etiologies among these variable phenotypes...
March 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28173735/evaluation-of-the-essences-in-a-neurodevelopmental-inpatient-service-for-adolescents
#12
Ciara Glennon, Marilyn A Sher
Ward climate is a key element within psychiatric settings, associated with positive clinical outcomes. The Essen Climate Evaluation Schema (EssenCES) is a ward climate measure, which is validated for use within UK forensic settings. It has been studied within neurodevelopmental psychiatric inpatient settings with mixed findings on its appropriateness, and there is a dearth of EssenCES research which has been conducted within an adolescent psychiatric inpatient setting. The present study piloted the EssenCES within an inpatient psychiatric neurodevelopmental setting for adolescents in the East of England, in order to explore its usefulness within this setting and to provide preliminary normative data for a child and adolescent mental health services inpatient learning disability population...
January 1, 2017: Journal of Intellectual Disabilities: JOID
https://www.readbyqxmd.com/read/28164378/a-patient-with-a-novel-purine-rich-element-binding-protein-a-pura-mutation
#13
Nobuhiko Okamoto, Hideto Nakao, Tetsuya Niihori, Yoko Aoki
There have been several reports on 5q31.3 microdeletion syndrome. The overlapping deleted region includes purine-rich element binding protein A (PURA), which encodes transcriptional activator protein Pur-α. Patients with PURA mutations show moderate to severe neurodevelopmental delay and learning disability. Neonatal hypotonia, respiratory insufficiency, feeding difficulties, and seizures are often seen. Dysmorphic features including myopathic faces are helpful as clinical signs of the diagnosis. We report a patient with a novel PURA mutation detected by whole-exome sequencing...
February 6, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28163986/neurobiologically-based-treatments-in-rett-syndrome-opportunities-and-challenges
#14
REVIEW
Walter E Kaufmann, Jennifer L Stallworth, David B Everman, Steven A Skinner
Introduction: Rett syndrome (RTT) is an X-linked neurodevelopmental disorder that primarily affects females, typically resulting in a period of developmental regression in early childhood followed by stabilization and severe chronic cognitive, behavioral, and physical disability. No known treatment exists beyond symptomatic management, and while insights into the genetic cause, pathophysiology, neurobiology, and natural history of RTT have been gained, many challenges remain. Areas covered: Based on a comprehensive survey of the primary literature on RTT, this article describes and comments upon the general and unique features of the disorder, genetic and neurobiological bases of drug development, and the history of clinical trials in RTT, with an emphasis on drug trial design, outcome measures, and implementation...
October 2, 2016: Expert Opinion on Orphan Drugs
https://www.readbyqxmd.com/read/28161297/signaling-of-noncomprehension-in-communication-breakdowns-in-fragile-x-syndrome-down-syndrome-and-autism-spectrum-disorder
#15
Gary E Martin, Jamie Barstein, Jane Hornickel, Sara Matherly, Genna Durante, Molly Losh
: The ability to indicate a failure to understand a message is a critical pragmatic (social) language skill for managing communication breakdowns and supporting successful communicative exchanges. The current study examined the ability to signal noncomprehension across different types of confusing message conditions in children and adolescents with fragile X syndrome (FXS), Down syndrome (DS), autism spectrum disorder (ASD), and typical development (TD). Controlling for nonverbal mental age and receptive vocabulary skills, youth with comorbid FXS and ASD and those with DS were less likely than TD controls to signal noncomprehension of confusing messages...
January 26, 2017: Journal of Communication Disorders
https://www.readbyqxmd.com/read/28160271/topical-anaesthesia-for-needle-related-pain-in-newborn-infants
#16
REVIEW
Jann P Foster, Christine Taylor, Kaye Spence
BACKGROUND: Hospitalised newborn neonates frequently undergo painful invasive procedures that involve penetration of the skin and other tissues by a needle. One intervention that can be used prior to a needle insertion procedure is application of a topical local anaesthetic. OBJECTIVES: To evaluate the efficacy and safety of topical anaesthetics such as amethocaine and EMLA in newborn term or preterm infants requiring an invasive procedure involving puncture of skin and other tissues with a needle...
February 4, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28151491/clinical-and-molecular-consequences-of-disease-associated-de-novo-mutations-in-satb2
#17
Hemant Bengani, Mark Handley, Mohsan Alvi, Rita Ibitoye, Melissa Lees, Sally Ann Lynch, Wayne Lam, Madeleine Fannemel, Ann Nordgren, H Malmgren, M Kvarnung, Sarju Mehta, Shane McKee, Margo Whiteford, Fiona Stewart, Fiona Connell, Jill Clayton-Smith, Sahar Mansour, Shehla Mohammed, Alan Fryer, Jenny Morton, Detelina Grozeva, Tara Asam, David Moore, Alejandro Sifrim, Jeremy McRae, Matthew E Hurles, Helen V Firth, F Lucy Raymond, Usha Kini, Christoffer Nellåker, Ddd Study, David R FitzPatrick
PURPOSE: To characterize features associated with de novo mutations affecting SATB2 function in individuals ascertained on the basis of intellectual disability. METHODS: Twenty previously unreported individuals with 19 different SATB2 mutations (11 loss-of-function and 8 missense variants) were studied. Fibroblasts were used to measure mutant protein production. Subcellular localization and mobility of wild-type and mutant SATB2 were assessed using fluorescently tagged protein...
February 2, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28150739/alterations-in-the-carnitine-cycle-in-a-mouse-model-of-rett-syndrome
#18
Sabrina Mucerino, Anna Di Salle, Nicola Alessio, Sabrina Margarucci, Raffaella Nicolai, Mariarosa A B Melone, Umberto Galderisi, Gianfranco Peluso
Rett syndrome (RTT) is a neurodevelopmental disease that leads to intellectual deficit, motor disability, epilepsy and increased risk of sudden death. Although in up to 95% of cases this disease is caused by de novo loss-of-function mutations in the X-linked methyl-CpG binding protein 2 gene, it is a multisystem disease associated also with mitochondrial metabolic imbalance. In addition, the presence of long QT intervals (LQT) on the patients' electrocardiograms has been associated with the development of ventricular tachyarrhythmias and sudden death...
February 2, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28139198/oxytocin-improves-behavioral-and-electrophysiological-deficits-in-a-novel-shank3-deficient-rat
#19
Hala Harony-Nicolas, Maya Kay, Johann du Hoffmann, Matthew E Klein, Ozlem Bozdagi-Gunal, Mohammed Riad, Nikolaos P Daskalakis, Sankalp Sonar, Pablo E Castillo, Patrick R Hof, Matthew L Shapiro, Mark G Baxter, Shlomo Wagner, Joseph D Buxbaum
Mutations in the synaptic gene SHANK3 lead to a neurodevelopmental disorder known as Phelan-McDermid syndrome (PMS). PMS is a relatively common monogenic and highly penetrant cause of autism spectrum disorder (ASD) and intellectual disability (ID), and frequently presents with attention deficits. The underlying neurobiology of PMS is not fully known and pharmacological treatments for core symptoms do not exist. Here, we report the production and characterization of a Shank3-deficient rat model of PMS, with a genetic alteration similar to a human SHANK3 mutation...
January 31, 2017: ELife
https://www.readbyqxmd.com/read/28138865/effect-of-sensory-training-of-the-posterior-thigh-on-trunk-control-and-upper-extremity-functions-in-stroke-patients
#20
Esra Dogru Huzmeli, Sibel Aksu Yildirim, Muhammed Kilinc
Some studies show that sensorial rehabilitation is effective on functionality. The aim of this study is to investigate the effect of sensory training of the posterior thigh on the functionality of upper extremity and trunk control in stroke patients. Thirteen subjects (53.23 ± 6.82 years) were included in the intervention group and 13 subjects (58.69 ± 5.94 years) in the control group. The control and intervention groups were treated for ten sessions. The control group was treated only with neurodevelopmental treatment, and the intervention group was treated with sensorial training on the posterior thigh in addition to the neurodevelopmental treatment...
January 30, 2017: Neurological Sciences
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