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https://www.readbyqxmd.com/read/28636935/the-sensory-striatum-is-permanently-impaired-by-transient-developmental-deprivation
#1
Todd M Mowery, Kristina B Penikis, Stephen K Young, Christopher E Ferrer, Vibhakar C Kotak, Dan H Sanes
Corticostriatal circuits play a fundamental role in regulating many behaviors, and their dysfunction is associated with many neurological disorders. In contrast, sensory disorders, like hearing loss (HL), are commonly linked with processing deficits at or below the level of the auditory cortex (ACx). However, HL can be accompanied by non-sensory deficits, such as learning delays, suggesting the involvement of regions downstream of ACx. Here, we show that transient developmental HL differentially affected the ACx and its downstream target, the sensory striatum...
June 20, 2017: Cell Reports
https://www.readbyqxmd.com/read/28636430/when-is-embryonic-arrest-broken-in-turtle-eggs
#2
Sean A Williamson, Roger G Evans, Richard D Reina
Turtle embryos enter a state of arrested development in the oviduct, allowing the mother greater flexibility in her reproductive schedule. Development recommences once eggs transition from the hypoxic oviduct to the normoxic nest. Significant mortality can occur if turtle eggs are moved between 12 h and 20 d after oviposition, and this is linked to the recommencement of embryonic development. To better understand the timing of developmental arrest and to determine how movement-induced mortality might be avoided, we determined the latency (i...
September 2017: Physiological and Biochemical Zoology: PBZ
https://www.readbyqxmd.com/read/28636205/progressive-scar14-with-unclear-speech-developmental-delay-tremor-and-behavioral-problems-caused-by-a-homozygous-deletion-of-the-sptbn2-pleckstrin-homology-domain
#3
Esra Yıldız Bölükbaşı, Muhammad Afzal, Sara Mumtaz, Nafees Ahmad, Sajid Malik, Aslıhan Tolun
We report on nine members of a consanguineous Pakistani family with primary presentation of intellectual disability, developmental delay, limb and gait ataxia, behavioral and speech problems, and tremor. By linkage mapping and exome sequencing we identified novel homozygous splicing variant c.6375-1G>C in SPTBN2. To date, only two other SPTBN2 mutations with recessive pattern of inheritance causing SCAR14 (spinocerebellar ataxia, autosomal recessive 14) that manifest with developmental ataxia and cognitive impairment, or cerebellar ataxia, mental retardation, and pyramidal signs have been reported...
June 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28635952/yunis-var%C3%A3-n-syndrome-caused-by-biallelic-vac14-mutations
#4
Matthew A Lines, Yoko Ito, Kristin D Kernohan, Wendy Mears, Julie Hurteau-Miller, Sunita Venkateswaran, Leanne Ward, Karine Khatchadourian, Jeff McClintock, Priya Bhola, Philippe M Campeau, Kym M Boycott, Jean Michaud, André Bp van Kuilenburg, Sacha Ferdinandusse, David A Dyment
Yunis-Varón syndrome (YVS) is an autosomal recessive disorder comprising skeletal anomalies, dysmorphism, global developmental delay and intracytoplasmic vacuolation in brain and other tissues. All hitherto-reported pathogenic variants affect FIG4, a lipid phosphatase involved in phosphatidylinositol (3,5)-bisphosphate [PtdIns(3,5)P2] metabolism. FIG4 interacts with PIKfyve, a lipid kinase, via the adapter protein VAC14; all subunits of the resulting complex are essential for PtdIns(3,5)P2 synthesis in the endolysosomal membrane compartment...
June 21, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28635423/inner-retinal-dystrophy-in-a-patient-with-biallelic-sequence-variants-in-brat1
#5
Julius T Oatts, Jacque L Duncan, Creig S Hoyt, Anne M Slavotinek, Anthony T Moore
BACKGROUND: Mutations in the BRCA1-associated protein required for the ataxia telangiectasia mutated (ATM) activation-1 (BRAT1) gene cause lethal neonatal rigidity and multifocal seizure syndrome characterized by rigidity and intractable seizures and a milder phenotype with intellectual disability, seizures, nonprogressive cerebellar ataxia or dyspraxia, and cerebellar atrophy. To date, nystagmus, cortical visual impairment, impairment of central vision, optic nerve hypoplasia, and optic atrophy have been described in this condition...
March 2, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28635418/infantile-spasms-and-injuries-of-prematurity-short-term-treatment-based-response-and-long-term-outcomes
#6
Adam Wallace, Victoria Allen, Kristen Park, Kelly Knupp
The association of infantile spasms and periventricular leukomalacia and/or intraventricular hemorrhage is well documented. Data regarding early treatment-based and long-term outcomes are limited. A retrospective chart review identified children with infantile spasms born prematurely (<37 weeks) with diagnoses of periventricular leukomalacia and/or intraventricular hemorrhage. Thirteen children were included. Median gestational age was 30 weeks and age of onset of infantile spasms was 8 months. Nine children had intraventricular hemorrhage, 10 had periventricular leukomalacia, and 6 children had both...
January 1, 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28635076/supernumeraries-in-nicolaides-baraitser-syndrome
#7
Bouthayna Al-Tamimi, Stefan Abela, Huw G Jeremiah, Robert D Evans
BACKGROUND: Nicolaides-Baraitser Syndrome(NCBRS) is an extremely rare condition which has been reported in only a few cases. NCBRS is a distinct clinical condition with typical clinical features of pre- and post-natal global developmental delay, impaired speech, and seizures. Microcephaly, sparse hair, anteverted alae nasi, undefined philtrum, prominence of distal phalanges and interphalangeal joints, and short metacarpals are also typical of NCBRS. CASE REPORT: There are no reported cases in the literature of patients with NCBRS presenting with multiple dental impactions, and to the authors' knowledge, this is the 28th fully documented case of NCBRS and only 75 cases identified as potentially having NCBRS...
June 21, 2017: International Journal of Paediatric Dentistry
https://www.readbyqxmd.com/read/28631968/improving-kindergarten-readiness-in-children-with-developmental-disabilities-changes-in-neural-correlates-of-response-monitoring
#8
Jennifer Martin McDermott, Katherine C Pears, Jacqueline Bruce, Hyoun K Kim, Leslie Roos, Karen L Yoerger, Philip A Fisher
Among children diagnosed with developmental delays, difficulties in self-regulation are prominent and have been linked to school readiness problems. The current study sought to examine the impact of the Kids in Transition to School (KITS) school readiness intervention program on self-regulation, with a specific focus on response monitoring skills, among children with developmental delays. Children (n = 20 in the KITS group and n = 21 in a services as usual group) were administered a flanker task during which event-related potential data were collected to examine group differences in response monitoring...
February 22, 2017: Applied Neuropsychology. Child
https://www.readbyqxmd.com/read/28630819/concerns-about-the-registered-behavior-technician%C3%A2-in-relation-to-effective-autism-intervention
#9
Justin B Leaf, Ronald Leaf, John McEachin, Mitchell Taubman, Tristram Smith, Sandra L Harris, B J Freeman, Toby Mountjoy, Tracee Parker, Todd Streff, Fred R Volkmar, Andi Waks
In 2014, the Behavior Analyst Certification Board (BACB®) initiated a program for credentialing behavior technicians. The new credential, Registered Behavior Technician™ (RBT®), is for providers of behavioral intervention to a wide range of individuals with mental health needs and developmental delays, including individuals diagnosed with autism spectrum disorder (ASD). The RBT® would represent the entry-level position within the range of the BACB® credentials. Despite the increasing acceptance of this newest level of credential from the behavioral community, the authors of this paper have substantial concerns with the RBT® credential as it relates to the delivery of intervention to individuals diagnosed with ASD...
June 2017: Behavior Analysis in Practice
https://www.readbyqxmd.com/read/28630655/neural-patterns-elicited-by-sentence-processing-uniquely-characterize-typical-development-sli-recovery-and-sli-persistence
#10
Eileen Haebig, Christine Weber, Laurence B Leonard, Patricia Deevy, J Bruce Tomblin
BACKGROUND: A substantial amount of work has examined language abilities in young children with specific language impairment (SLI); however, our understanding of the developmental trajectory of language impairment is limited. Along with studying the behavioral changes that occur across development, it is important to examine the neural indices of language processing for children with different language trajectories. The current study sought to examine behavioral and neural bases of language processing in adolescents showing three different trajectories: those with normal language development (NL), those exhibiting persistent SLI (SLI-Persistent), and those with a history of SLI who appear to have recovered (SLI-Recovered)...
2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/28630121/a-novel-recombinant-human-thrombopoietin-therapy-for-the-management-of-immune-thrombocytopenia-in-pregnancy
#11
Zhangyuan Kong, Ping Qin, Shan Xiao, Hai Zhou, Hong Li, Renchi Yang, Xiaofan Liu, Jianmin Luo, Zhichun Li, Guochao Ji, Zhongguang Cui, Yusheng Bai, Yuxia Wu, Linlin Shao, Jun Peng, Jun Ma, Ming Hou
The aim of this study was to determine the safety and efficacy of recombinant human thrombopoietin (rhTPO) for the management of immune thrombocytopenia (ITP) during pregnancy. Pregnant ITP patients were enrolled in the study if they had a platelet count of < 30 × 10(9)/L, were experiencing bleeding manifestations, had failed to respond to corticosteroids and/or intravenous immunoglobulin (IVIG), and had developed refractoriness to platelet transfusion. Thirty-one patients received rhTPO at an initial dose of 300U/kg once daily for 14 days...
June 19, 2017: Blood
https://www.readbyqxmd.com/read/28628668/dose-dependent-effects-of-gamma-radiation-on-the-early-zebrafish-development-and-gene-expression
#12
Selma Hurem, Leonardo Martín Martín, Dag Anders Brede, Eystein Skjerve, Rasoul Nourizadeh-Lillabadi, Ole Christian Lind, Terje Christensen, Vidar Berg, Hans-Christian Teien, Brit Salbu, Deborah Helen Oughton, Peter Aleström, Jan Ludvig Lyche
Ionizing radiation from natural sources or anthropogenic activity has the potential to cause oxidative stress or genetic damage in living organisms, through the ionization and excitation of molecules and the subsequent production of free radicals and reactive oxygen species (ROS). The present work focuses on radiation-induced biological effects using the zebrafish (Danio rerio) vertebrate model. Changes in developmental traits and gene expression in zebrafish were assessed after continuous external gamma irradiation (0...
2017: PloS One
https://www.readbyqxmd.com/read/28627423/severe-developmental-timing-defects-in-the-prothoracicotropic-hormone-ptth-deficient-silkworm-bombyx-mori
#13
Miwa Uchibori-Asano, Takumi Kayukawa, Hideki Sezutsu, Tetsuro Shinoda, Takaaki Daimon
The insect neuropeptide prothoracicotropic hormone (PTTH) triggers the biosynthesis and release of the molting hormone ecdysone in the prothoracic gland (PG), thereby controlling the timing of molting and metamorphosis. Despite the well-documented physiological role of PTTH and its signaling pathway in the PG, it is not clear whether PTTH is an essential hormone for ecdysone biosynthesis and development. To address this question, we established and characterized a PTTH knockout line in the silkworm, Bombyx mori...
June 13, 2017: Insect Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/28627419/arx-polyalanine-expansion-mutations-lead-to-migration-impediment-in-the-rostral-cortex-coupled-with-a-developmental-deficit-of-calbindin-positive-cortical-gabaergic-interneurons
#14
K Lee, K Ireland, M Bleeze, C Shoubridge
The Aristaless-related homeobox gene (ARX) is indispensable for interneuron development. Patients with ARX polyalanine expansion mutations of the first two tracts (namely PA1 and PA2) suffer from intellectual disability of varying severity, with seizures a frequent comorbidity. The impact of PA1 and PA2 mutations on the brain development is unknown, hindering the search for therapeutic interventions. Here, we characterised the disturbances to cortical interneuron development in mice modelling the two most common ARX polyalanine expansion mutations in human...
June 13, 2017: Neuroscience
https://www.readbyqxmd.com/read/28626334/effect-of-neuro-development-treatment-on-motor-development-in-preterm-infants
#15
Eun-Ju Lee
[Purpose] To investigate the effects of Neuro-Development Treatment on development in the preterm infants. [Subjects and Methods] A total of 96 premature infants were recruited for this study; 62 low birth weight preterm infants (<2.5 kg, high risk infants for developmental delay) and 34 premature infants (>2.5 kg, low risk infants for developmental delay). High risk infants were divided into intervention group (32 infants) and control group (30 infants) at time of admission. Low risk infants were into comparative group (34 infants)...
June 2017: Journal of Physical Therapy Science
https://www.readbyqxmd.com/read/28626003/transcriptional-complexity-and-distinct-expression-patterns-of-auts2-paralogs-in-danio-rerio
#16
Igor Kondrychyn, Lena Robra, Vatsala Thirumalai
Several genes that have been implicated in autism spectrum disorders are large and have multiple transcripts. Neurons are especially enriched with longer transcripts compared to non-neural cell types. The human autism susceptibility candidate 2 (AUTS2) gene is ~1.2 Mb long and is implicated in a number of neurological disorders including autism, intellectual disability, addiction and developmental delay. Recent studies show AUTS2 to be important for activation of transcription of neural specific genes, neuronal migration and neurite outgrowth...
June 16, 2017: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/28624958/whole-exome-sequencing-identified-compound-heterozygous-variants-in-mmks-in-a-chinese-pedigree-with-bardet-biedl-syndrome
#17
Zhan Qi, Ying Shen, Qian Fu, Wei Li, Wei Yang, Wenshan Xu, Ping Chu, Yaxin Zhang, Hui Wang
Bardet-Biedl syndrome (BBS) is a genetically heterogeneous disorder characterized by retinal dystrophy, polydactyly, obesity, developmental delay, and renal defects. At least 21 candidate BBS-associated genes (BBS1-19, NPHP1, and IFT172) have previously been identified, and all of them play important roles in ciliary function. Here, we collected a BBS pedigree with four members and performed whole-exome sequencing on the proband. The variants were analyzed and evaluated to confirm their pathogenicity. We found compound heterozygous variants (c...
June 14, 2017: Science China. Life Sciences
https://www.readbyqxmd.com/read/28624465/muscle-pathology-in-vici-syndrome-a-case-study-with-a-novel-mutation-in-epg5-and-a-summary-of-the-literature
#18
Carola Hedberg-Oldfors, Niklas Darin, Anders Oldfors
Vici syndrome is a disorder characterized by myopathy, cardiomyopathy, agenesis of the corpus callosum, immunodeficiency, cataracts, hypopigmentation, microcephaly, gross developmental delay and failure to thrive. It is caused by mutations in EPG5, which encodes a protein involved in the autophagy pathway. Although myopathy is part of the syndrome, few publications have described the muscle pathology. We present a detailed morphological analysis in a boy with Vici syndrome due to a novel homozygous one-base deletion in EPG5 (c...
May 8, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28623797/phenotypic-defects-in-newborn-gammarus-fossarum-amphipoda-following-embryonic-exposure-to-fenoxycarb
#19
Hélène Arambourou, Arnaud Chaumot, Emmanuelle Vulliet, Gaëlle Daniele, Nicolas Delorme, Khédidja Abbaci, Vincent Debat
During morphogenesis numerous morphogenetic factors ensure the production of a target phenotype. By disrupting these processes, a toxic exposure during this period could cause an increase of phenotypic defects. In the present study, embryos of the freshwater amphipod Gammarus fossarum were exposed throughout the embryogenesis to increasing concentrations of fenoxycarb (0, 0.5µgL(-1), 5µgL(-1) and 50µgL(-1)), a growth regulator insecticide analog of the insect juvenile hormone. In addition, to identify morphogenesis' sensitive period, embryos were exposed during either early or late embryonic development to 5µgL(-1) of fenoxycarb...
June 14, 2017: Ecotoxicology and Environmental Safety
https://www.readbyqxmd.com/read/28623780/preschoolers-disclosures-of-child-sexual-abuse-examining-corroborated-cases-from-swedish-courts
#20
Mikaela Magnusson, Emelie Ernberg, Sara Landström
Young victims of child sexual abuse can - for a range of developmental, motivational and contextual reasons - have difficulties disclosing their experiences. In the present study, corroborated court cases concerning 57 preschoolers' disclosures of sexual abuse were examined using qualitative and quantitative methodologies. Together, the cases involved 53 girls and 4 boys between 2-6 years (M=4.2, SD=1.2) during the (first) incident of abuse. The children were between 3-7 years (M=5.3, SD=1.2) during their police interview...
June 14, 2017: Child Abuse & Neglect
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