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https://www.readbyqxmd.com/read/30515510/estimates-of-the-prevalence-of-speech-and-motor-speech-disorders-in-youth-with-22q11-2-deletion-syndrome
#1
Adriane L Baylis, Lawrence D Shriberg
Purpose: Speech sound disorders and velopharyngeal dysfunction are frequent features of 22q11.2 deletion syndrome (22q). We report the first estimate of the prevalence of motor speech disorders (MSDs) in youth with 22q. Method: Seventeen children and adolescents with 22q completed an assessment protocol that included a conversational speech sample. Data reduction included phonetic transcription, perceptual speech ratings, prosody-voice coding, and acoustic analyses...
December 4, 2018: American Journal of Speech-language Pathology
https://www.readbyqxmd.com/read/30511781/clinical-outcomes-following-prenatal-diagnosis-of-asymmetric-ventriculomegaly-interhemispheric-cyst-and-callosal-dysgenesis-avid
#2
Karen Y Oh, Thomas J Gibson, Joseph Pinter, David Pettersson, Brian L Shaffer, Nathan R Selden, Roya Sohaey
OBJECTIVES: When identified prenatally, the imaging triad of asymmetric ventriculomegaly, interhemispheric cyst, and dysgenesis of the corpus callosum (AVID) can indicate a more serious congenital brain anomaly. In this follow-up series of 15 fetuses, we present the neurodevelopmental outcomes of a single institution cohort of children diagnosed prenatally with AVID. METHODS: Our fetal ultrasound database was queried for cases of AVID between 2000 and 2016. All available fetal MR imaging studies were reviewed for the presence of (1) interhemispheric cysts or ventricular diverticula and (2) dysgenesis or agenesis of the corpus callosum...
December 4, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/30502377/is-developmental-prosopagnosia-best-characterised-as-an-apperceptive-or-mnemonic-condition
#3
Federica Biotti, Katie L H Gray, Richard Cook
Traditionally, developmental prosopagnosia (DP) has been thought of as an apperceptive condition that hinders individuals' ability to encode face structure. However, several authors have recently raised the possibility that many DPs may be able to form accurate percepts, but be unable to maintain those percepts over time. The present study sought to distinguish these possibilities. In our first experiment 16 DPs and 22 typical controls completed a delayed match-to-sample task with face and car stimuli, with a retention interval of 1-second (low demand) or 6-seconds (high demand)...
November 28, 2018: Neuropsychologia
https://www.readbyqxmd.com/read/30500678/induced-pluripotent-stem-cell-line-imgti003-a-derived-from-skin-fibroblasts-of-an-intellectually-disabled-patient-with-ring-chromosome-13
#4
T V Nikitina, A G Menzorov, A A Kashevarova, M M Gridina, A A Khabarova, Yu S Yakovleva, M E Lopatkina, I E Pristyazhnyuk, S A Vasilyev, O L Serov, I N Lebedev
Skin fibroblasts from a patient with neurodevelopmental and speech delay, anxiety disorder, macrocephaly, microorchidism, multiple anomalies of internal organs and ring chromosome 13 were reprogrammed into induced pluripotent stem cells (iPSCs) to generate a clonal stem cell line IMGTi003-A (iTAF6-6). IMGTi003-A pluripotency was demonstrated by three germ layer differentiation capacity in vitro, and this cell line had a mosaic karyotype with 46,XY,r(13) as a predominant cell subpopulation. IMGTi003-A line is a good model for studying of the mitotic instability of the ring chromosome 13...
November 20, 2018: Stem Cell Research
https://www.readbyqxmd.com/read/30475450/auditory-visual-misalignment-a-theoretical-perspective-on-vocabulary-delays-in-children-with-asd
#5
Courtney E Venker, Allison Bean, Sara T Kover
In this commentary, we describe a novel theoretical perspective on vocabulary delays in children with autism spectrum disorder (ASD)-a perspective we refer to as auditory-visual misalignment. We synthesize empirical evidence that: (a) as a result of differences in both social and nonsocial visual attention, the auditory-visual statistics available to children with ASD for early word learning are misaligned; (b) this auditory-visual misalignment disrupts word learning and contributes to the vocabulary delays shown by children with ASD; and (c) adopting a perspective of auditory-visual misalignment has important theoretical and clinical implications for understanding and supporting vocabulary development in children with ASD...
November 26, 2018: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/30475435/gain-of-function-variants-in-the-odc1-gene-cause-a-syndromic-neurodevelopmental-disorder-associated-with-macrocephaly-alopecia-dysmorphic-features-and-neuroimaging-abnormalities
#6
Lance H Rodan, Kwame Anyane-Yeboa, Karen Chong, Jolien S Klein Wassink-Ruiter, Ashley Wilson, Lacey Smith, Sanjeev V Kothare, Farrah Rajabi, Susan Blaser, Min Ni, Ralph J DeBerardinis, Annapurna Poduri, Gerard T Berry
Polyamines serve a number of vital functions in humans, including regulation of cellular proliferation, intracellular signaling, and modulation of ion channels. Ornithine decarboxylase 1 (ODC1) is the rate-limiting enzyme in endogenous polyamine synthesis. In this report, we present four patients with a distinct neurometabolic disorder associated with de novo heterozygous, gain-of-function variants in the ODC1 gene. This disorder presents with global developmental delay, ectodermal abnormalities including alopecia, absolute or relative macrocephaly, and characteristic facial dysmorphisms...
November 26, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/30473651/national-registry-data-from-korean-neonatal-network-two-year-outcomes-of-korean-very-low-birth-weight-infants-born-in-2013-2014
#7
YoungAh Youn, Soon Min Lee, Jong-Hee Hwang, Su Jin Cho, Ee-Kyung Kim, Ellen Ai-Rhan Kim
Background: The aim of this study was to observe long-term outcomes of very low birth weight infants (VLBWIs) born between 2013 and 2014 in Korea, especially focusing on neurodevelopmental outcomes. Methods: The data were collected from Korean Neonatal Network (KNN) registry from 43 and 54 participating units in 2013 and 2014, respectively. A standardized electronic case report form containing 30 items related to long-term follow up was used after data validation...
November 26, 2018: Journal of Korean Medical Science
https://www.readbyqxmd.com/read/30473033/effects-of-delayed-cord-clamping-on-4-month-ferritin-levels-brain-myelin-content-and-neurodevelopment-a-randomized-controlled-trial
#8
Judith S Mercer, Debra A Erickson-Owens, Sean C L Deoni, Douglas C Dean, Jennifer Collins, Ashley B Parker, Meijia Wang, Sarah Joelson, Emily N Mercer, James F Padbury
OBJECTIVE: To evaluate whether placental transfusion influences brain myelination at 4 months of age. STUDY DESIGN: A partially blinded, randomized controlled trial was conducted at a level III maternity hospital in the US. Seventy-three healthy term pregnant women and their singleton fetuses were randomized to either delayed umbilical cord clamping (DCC, >5 minutes) or immediate clamping (ICC, <20 seconds). At 4 months of age, blood was drawn for ferritin levels...
December 2018: Journal of Pediatrics
https://www.readbyqxmd.com/read/30472485/biallelic-mutations-in-ap3d1-cause-hermansky-pudlak-syndrome-type-10-associated-with-immunodeficiency-and-seizure-disorder
#9
Mohammed Mohammed, Nadia Al-Hashmi, Samiya Al-Rashdi, Nashat Al-Sukaiti, Kawther Al-Adawi, Marwa Al-Riyami, Almundher Al-Maawali
Several types of Hermansky-Pudlak syndromes (HPS) represent a group of immunodeficiency syndromes that feature both leukocyte defects with partial albinism of hair, skin, and eyes. These conditions share defects in genes that encode proteins involved in the biogenesis, function, and trafficking of secretory lysosomes. Mutations in AP3D1 which encode the main subunit AP-3(δ) were recently reported on one individual and led to Hermansky-Pudlak Syndrome type 10 (HPS10; OMIM 617050). HPS10 is a severe condition that manifests with symptoms of oculocutaneous albinism, neurodevelopmental delays, platelet dysfunction, and immunodeficiency...
November 22, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/30470211/10-year-follow-up-of-congenital-cytomegalovirus-infection-complicated-with-severe-neurological-findings-in-infancy-a-case-report
#10
Eisuke Suganuma, Akira Oka, Hideaki Sakata, Nodoka Adachi, Satoshi Asanuma, Eiji Oguma, Akira Yamaguchi, Mihoko Furuichi, Yoji Uejima, Satoshi Sato, Tadamasa Takano, Yutaka Kawano, Risa Tanaka, Takashi Arai, Tsutomu Oh-Ishi
BACKGROUND: Congenital cytomegalovirus (cCMV) infection leads to sensorineural hearing loss (SNHL) and neurodevelopmental delays. However, the long-term outcomes of cCMV infection with severe neurological manifestations in infancy remain unclear. CASE PRESENTATION: The patient was a one-month-old girl visited owing to abnormalities in neonatal hearing screening. Central nervous system involvement including intracranial calcification and extensive white matter abnormalities was identified...
November 23, 2018: BMC Pediatrics
https://www.readbyqxmd.com/read/30465806/a-rat-model-to-study-maternal-depression-during-pregnancy-and-postpartum-periods-its-comorbidity-with-cardiovascular-diseases-and-neurodevelopmental-impact-in-the-offspring
#11
Katarzyna Czarzasta, Monika Makowska-Zubrycka, Kaja Kasarello, Veronica M Skital, Karolina Tyszkowska, Katarzyna Matusik, Anika Jesion, Malgorzata Wojciechowska, Agnieszka Segiet, Robert Wrzesien, Michal Biały, Pawel Krzascik, Aleksandra Wisłowska-Stanek, Elzbieta M Sajdel-Sulkowska
This study aimed to develop an animal model of human depression during pregnancy and lactation to examine the effect of maternal, perinatal depression on offspring development. Maternal depression during pregnancy affects up to 20% of women and is a risk factor for both the developmental and long-term health issues. It is often comorbid with the cardiovascular disease (CVD) that affects the uteroplacental circulation and impacts offspring development. More than half of the expecting mothers with depression use antidepressants that cross the placenta and may interfere with the neurodevelopmental programming...
November 19, 2018: Physiology & Behavior
https://www.readbyqxmd.com/read/30455226/early-onset-infant-epileptic-encephalopathy-associated-with-a-de-novo-ppp3ca-gene-mutation
#12
Yanyan Qian, Bingbing Wu, Yulan Lu, Xinran Dong, Qian Qin, Wenhao Zhou, Huijun Wang
Epileptic encephalopathies are severe seizure disorders accompanied by intellectual disability. Whole-exome sequencing technology has enabled the discovery of genetic mutations responsible for a wide range of diseases, and severe epilepsy and neurodevelopmental diseases are often associated with rare de novo mutations. We identified a novel de novo frameshift mutation in the PPP3CA gene encoding calcium-dependent protein phosphatase (calcineurin) catalytic subunit A (c.1255_1256del, p.Ser419Cysfs*31) in an 11...
November 19, 2018: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/30453621/human-fetal-astrocytes-infected-with-zika-virus-exhibit-delayed-apoptosis-and-resistance-to-interferon-implications-for-persistence
#13
Daniel Limonta, Juan Jovel, Anil Kumar, Adriana M Airo, Shangmei Hou, Leina Saito, William Branton, Gane Ka-Shu Wong, Andrew Mason, Christopher Power, Tom C Hobman
Zika virus (ZIKV) infection and persistence during pregnancy can lead to microcephaly and other fetal neurological disorders collectively known as Congenital Zika Syndrome. The immunological and virological events that contribute to the establishment of persistent ZIKV infection in humans are unclear though. Here we show that human fetal astrocytes (HFAs), the most abundant cell type in the central nervous system, become persistently infected with ZIKV resulting in continuous viral shedding for at least one month; a process that is facilitated by TIM/TAM receptors...
November 17, 2018: Viruses
https://www.readbyqxmd.com/read/30447804/the-late-preterm-a-population-at-risk
#14
REVIEW
Julie E Williams, Yvette Pugh
Late preterm infants (LPIs) are born between 34 0/7 and 36 6/7 weeks' gestation and account for 72% of all preterm births in the United States. Born as much as 6 weeks early, the LPI misses the critical growth and development specific to the third trimester. The loss of this critical period leaves the LPI physiologically and metabolically immature and prone to various morbidities. Common morbidities include respiratory complications, feeding difficulty, hypoglycemia, temperature instability, hyperbilirubinemia, and neurodevelopmental delays...
December 2018: Critical Care Nursing Clinics of North America
https://www.readbyqxmd.com/read/30443431/neurodevelopmental-needs-in-young-boys-with-duchenne-muscular-dystrophy-dmd-observations-from-the-cooperative-international-neuromuscular-research-group-cinrg-dmd-natural-history-study-dnhs
#15
Mathula Thangarajh, Christopher F Spurney, Heather Gordish-Dressman, Paula R Clemens, Eric P Hoffman, Craig M McDonald, Erik K Henricson, Cinrg Investigators
INTRODUCTION: Duchenne muscular dystrophy (DMD) is the most common X-linked neuromuscular condition manifested by progressive skeletal muscle weakness, cardiopulmonary involvement and cognitive deficits. Neurodevelopmental symptoms and signs are under-appreciated in this population despite the recognition that cognition has a major impact on quality-of-life. We describe the neurodevelopmental needs in a large cohort of young boys with DMD from the DMD Natural History Study (DNHS). We explore the association between neurodevelopmental needs and DMD mutation location, and with glucocorticoid use...
October 17, 2018: PLoS Currents
https://www.readbyqxmd.com/read/30424912/three-japanese-patients-with-3p13-microdeletions-involving-foxp1
#16
Keiko Yamamoto-Shimojima, Nobuhiko Okamoto, Wataru Matsumura, Tetsuya Okazaki, Toshiyuki Yamamoto
BACKGROUND: FOXP1 is known as the gene responsible for neurodevelopmental delay associated with language impairment. Broad clinical findings also include feeding difficulty, muscular hypotonia, and distinctive features. These findings are common between patients with loss-of-function mutations in FOXP1 and 3p13 microdeletion involving FOXP1. Thus, "FOXP1-related intellectual disability syndrome" is now recommended. METHODS: After obtaining informed consent, chromosomal microarray testing was performed for patients with unknown etiology...
November 10, 2018: Brain & Development
https://www.readbyqxmd.com/read/30418476/a-multimethod-analysis-of-pragmatic-skills-in-children-and-adolescents-with-fragile-x-syndrome-autism-spectrum-disorder-and-down-syndrome
#17
Gary E Martin, Lauren Bush, Jessica Klusek, Shivani Patel, Molly Losh
Purpose: Pragmatic language skills are often impaired above and beyond general language delays in individuals with neurodevelopmental disabilities. This study used a multimethod approach to language sample analysis to characterize syndrome- and sex-specific profiles across different neurodevelopmental disabilities and to examine the congruency of 2 analysis techniques. Method: Pragmatic skills of young males and females with fragile X syndrome with autism spectrum disorder (FXS-ASD, n = 61) and without autism spectrum disorder (FXS-O, n = 40), Down syndrome (DS, n = 42), and typical development (TD, n = 37) and males with idiopathic autism spectrum disorder only (ASD-O, n = 29) were compared using variables obtained from a detailed hand-coding system contrasted with similar variables obtained automatically from the language analysis program Systematic Analysis of Language Transcripts (SALT)...
November 9, 2018: Journal of Speech, Language, and Hearing Research: JSLHR
https://www.readbyqxmd.com/read/30417326/mosaic-mecp2-variants-in-males-with-classical-rett-syndrome-features-including-stereotypical-hand-movements
#18
Bitten Schönewolf-Greulich, Anne-Marie Bisgaard, Morten Dunø, Cathrine Jespersgaard, Mette Rokkjaer, Lars K Hansen, Eirini Tsoutsou, Christalena Sofokleous, Meral Topcu, Simran Kaur, Nicole J Van Bergen, Karen Brøndum-Nielsen, Martin J Larsen, Kristina P Sørensen, John Christodoulou, Christina R Fagerberg, Zeynep Tümer
Rett syndrome is rarely suspected in males because of the X-linked dominant inheritance. In the literature, only six male patients have been reported with methyl-CpG-binding protein 2 (MECP2) mosaicism. Next-generation sequencing (NGS) methods have enabled better detection of somatic mosaicism compared to conventional Sanger sequencing; however, mosaics can still be difficult to detect. We present clinical and molecular findings in two males mosaic for a pathogenic MECP2 variant. Both have been reexamined using deep sequencing of DNA isolated from four different cell tissues (blood, muscle, fibroblasts and oral mucosa)...
November 11, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/30405350/metabotropic-glutamate-receptor-7-a-new-therapeutic-target-in-neurodevelopmental-disorders
#19
REVIEW
Nicole M Fisher, Mabel Seto, Craig W Lindsley, Colleen M Niswender
Neurodevelopmental disorders (NDDs) are characterized by a wide range of symptoms including delayed speech, intellectual disability, motor dysfunction, social deficits, breathing problems, structural abnormalities, and epilepsy. Unfortunately, current treatment strategies are limited and innovative new approaches are sorely needed to address these complex diseases. The metabotropic glutamate receptors are a class of G protein-coupled receptors that act to modulate neurotransmission across many brain structures...
2018: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/30391268/-diagnosis-and-comorbidities-of-circadian-rhythm-sleep-disorders
#20
Elisabeth Ruppert, Ulker Kilic-Huck
Circadian rhythm sleep disorders (CRSD) result from a disturbed endogenous clock (intrinsic CRSD) or from a misalignment between the biological clock and an imposed environment (extrinsic CRSD). Among intrinsic CRSD, one distinguishes the delayed sleep-wake phase disorder, the advanced sleep-wake phase disorder, the irregular sleep-wake rhythm disorder and the non-24-hour sleep-wake rhythm disorder. Shift work disorder, jet lag disorder and circadian sleep-wake disorder not otherwise specified are extrinsic CRSD...
October 31, 2018: La Presse Médicale
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