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https://www.readbyqxmd.com/read/29166388/associations-between-thyroid-dysfunction-and-developmental-status-in-children-with-excessive-iodine-status
#1
Inger Aakre, Tor A Strand, Khalil Moubarek, Ingrid Barikmo, Sigrun Henjum
BACKGROUND AND OBJECTIVE: Adequate iodine status and normal thyroid hormone synthesis are important for optimal child development. In this study, we explored whether young children's developmental status is associated with thyroid dysfunction in an area of chronic excessive iodine exposure. METHODS: We included 298 children between 18 and 48 months of age residing in Algerian refugee camps. Early child development was measured using the Ages and Stages Questionnaires, third edition (ASQ-3), consisting of five domains: Communication, Gross Motor, Fine Motor, Problem Solving and Personal-Social...
2017: PloS One
https://www.readbyqxmd.com/read/29166310/universal-applicability-of-the-furlow-palatoplasty-resident-as-primary-surgeon-in-a-consecutive-nonselective-series
#2
Mitchell A Stotland, Thanapoom Boonipat, Cheryl M Lundgren, Esperanza Garcia Gonzalo
BACKGROUND: Questions persist regarding the general applicability of the Furlow palatoplasty technique, and thus, widespread adoption of its use has been uneven. This study describes a consecutive, nonselective series of primary Furlow palatoplasties. Highlighted is the unique fact that plastic surgical residents functioned as the primary surgeon for all steps of all procedures throughout the series. METHODS: A retrospective review was undertaken of all primary palatoplasties performed under the direction of the senior surgeon between December 2005 and April 2012...
November 21, 2017: Annals of Plastic Surgery
https://www.readbyqxmd.com/read/29165686/optimal-timing-for-blastomere-biopsy-of-8-cell-embryos-for-preimplantation-genetic-diagnosis
#3
Y Kalma, L Bar-El, S Asaf-Tisser, M Malcov, A Reches, J Hasson, H Amir, F Azem, D Ben-Yosef
STUDY QUESTION: What is the optimal timing for blastomere biopsy during the 8-cell stage, at which embryos will have the best implantation potential? SUMMARY ANSWER: Fast-cleaving embryos that are biopsied during the last quarter (Q4) of the 8-cell stage and are less affected by the biopsy procedure, and their implantation potential is better than that of embryos biopsied earlier during the 8-cell stage (Q1-Q3). WHAT IS KNOWN ALREADY: Blastomer biopsy from cleavage-stage embryos is usually performed on the morning of Day 3 when the embryos are at the 6- to 8-cell stage and is still the preferred biopsy method for preimplantation genetic diagnosis (PGD) for monogentic disorders or chromosomal translocations...
November 20, 2017: Human Reproduction
https://www.readbyqxmd.com/read/29164765/maternal-pre-pregnancy-obesity-and-child-neurodevelopmental-outcomes-a-meta-analysis
#4
REVIEW
C E Sanchez, C Barry, A Sabhlok, K Russell, A Majors, S H Kollins, B F Fuemmeler
This review examined evidence of the association between maternal pre-pregnancy overweight/obesity status and child neurodevelopmental outcomes. PubMed and PsycINFO databases were systematically searched for empirical studies published before April 2017 using keywords related to prenatal obesity and children's neurodevelopment. Of 1483 identified papers, 41 were included in the systematic review, and 32 articles representing 36 cohorts were included in the meta-analysis. Findings indicated that compared with children of normal weight mothers, children whose mothers were overweight or obese prior to pregnancy were at increased risk for compromised neurodevelopmental outcomes (overweight: OR = 1...
November 22, 2017: Obesity Reviews: An Official Journal of the International Association for the Study of Obesity
https://www.readbyqxmd.com/read/29163086/adolescent-exposure-to-methylphenidate-increases-impulsive-choice-later-in-life
#5
Zarish Abbas, Arwen Sweet, Giovanni Hernandez, Andreas Arvanitogiannis
Background: The psychostimulant methylphenidate (MPH) is known to temporarily reduce impulsive choice and promote self-control. What is not sufficiently understood is how repeated treatment with MPH affects impulsive choice in the long run, and whether any such effect is contingent on exposure at certain developmental stages. Methods: Using an animal model for impulsive choice, we examined first whether giving MPH through early adolescence alters delay discounting, an operational measure of impulsive choice, later in adulthood...
2017: Frontiers in Behavioral Neuroscience
https://www.readbyqxmd.com/read/29162865/gaba-a-receptor-coupling-junction-and-pore-gabrb3-mutations-are-linked-to-early-onset-epileptic-encephalopathy
#6
Ciria C Hernandez, Yujia Zhang, Ningning Hu, Dingding Shen, Wangzhen Shen, Xiaoyan Liu, Weijing Kong, Yuwu Jiang, Robert L Macdonald
GABAA receptors are brain inhibitory chloride ion channels. Here we show functional analyses and structural simulations for three de novo missense mutations in the GABAA receptor β3 subunit gene (GABRB3) identified in patients with early-onset epileptic encephalopathy (EOEE) and profound developmental delay. We sought to obtain insights into the molecular mechanisms that might link defects in GABAA receptor biophysics and biogenesis to patients with EOEE. The mutant residues are part of conserved structural domains such as the Cys-loop (L170R) and M2-M3 loop (A305V) that form the GABA binding/channel gating coupling junction and the channel pore (T288N), which are functionally coupled during receptor activation...
November 21, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29162653/de-novo-variants-in-ebf3-are-associated-with-hypotonia-developmental-delay-intellectual-disability-and-autism
#7
Akemi J Tanaka, Megan T Cho, Rebecca Willaert, Kyle Retterer, Yuri A Zarate, Katie Bosanko, Vikki Stefans, Kimihiko Oishi, Amy Williamson, Golder N Wilson, Alice Basinger, Tina Barbaro-Dieber, Lucia Ortega, Susanna Sorrentino, Melissa K Gabriel, Ilse J Anderson, Maria J Guillen Sacoto, Rhonda E Schnur, Wendy K Chung
Using whole-exome sequencing, we identified seven unrelated individuals with global developmental delay, hypotonia, dysmorphic facial features, and an increased frequency of short stature, ataxia, and autism with de novo heterozygous frameshift, nonsense, splice, and missense variants in the Early B-cell Transcription Factor Family Member 3 (EBF3) gene. EBF3 is a member of the collier/olfactory-1/early B-cell factor (COE) family of proteins, which are required for central nervous system (CNS) development. COE proteins are highly evolutionarily conserved and regulate neuronal specification, migration, axon guidance, and dendritogenesis during development and are essential for maintaining neuronal identity in adult neurons...
November 2017: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/29162518/ripe-for-solution-delayed-development-of-multisensory-processing-in-autism-and-its-remediation
#8
REVIEW
Shlomit Beker, John J Foxe, Sophie Molholm
Difficulty integrating inputs from different sensory sources is commonly reported in individuals with Autism Spectrum Disorder (ASD). Accumulating evidence consistently points to altered patterns of behavioral reactions and neural activity when individuals with ASD observe or act upon information arriving through multiple sensory systems. For example, impairments in the integration of seen and heard speech appear to be particularly acute, with obvious implications for interpersonal communication. Here, we explore the literature on multisensory processing in autism with a focus on developmental trajectories...
November 18, 2017: Neuroscience and Biobehavioral Reviews
https://www.readbyqxmd.com/read/29161443/fragile-x-syndrome-with-congenital-diaphragmatic-hernia
#9
Archana Kadam, Anand Pandit, Sanjay Patole
The authors present a case of Fragile X syndrome (FXS) in siblings from an Indian family with no developmental delay in previous generations. The boy presented with developmental delay, autistic features and defiant behaviours that raised clinical suspicion. He also had congenital diaphragmatic hernia (CDH). Social anxiety and difficulty in making friends were the subtle features in his sister with dull normal intelligence. FXS was confirmed by clinical features and DNA testing. Intervention was initiated for both the siblings...
November 17, 2017: Journal of Tropical Pediatrics
https://www.readbyqxmd.com/read/29161318/loss-of-mtorc2-signaling-in-oligodendrocyte-precursor-cells-delays-myelination
#10
Mark D Grier, Kathryn L West, Nathaniel D Kelm, Cary Fu, Mark D Does, Brittany Parker, Eleanor McBrier, Andre H Lagrange, Kevin C Ess, Robert P Carson
Myelin abnormalities are increasingly being recognized as an important component of a number of neurologic developmental disorders. The integration of many signaling pathways and cell types are critical for correct myelinogenesis. The PI3-K and mechanistic target of rapamycin (mTOR) pathways have been found to play key roles. mTOR is found within two distinct complexes, mTORC1 and mTORC2. mTORC1 activity has been shown to play a major role during myelination, while the role of mTORC2 is not yet well understood...
2017: PloS One
https://www.readbyqxmd.com/read/29160031/maternal-inheritance-of-bdnf-deletion-with-phenotype-of-obesity-and-developmental-delay-in-mother-and-child
#11
Brooke E Harcourt, Denise V R Bullen, Kung-Ting Kao, Daniella Tassoni, Erin J Alexander, Trent Burgess, Susan M White, Matthew A Sabin
Childhood obesity is a significant world health problem. Understanding the genetic and environmental factors contributing to the development of obesity in childhood is important for the rational design of strategies for obesity prevention and treatment. Brain-derived neurotrophic factor (BDNF) plays an important role in the growth and development of the central nervous system, there is also an evidence that BDNF plays a role in regulation of appetite. Disruption of the expression of this gene in a child has been previously reported to result in a phenotype of severe obesity, hyperphagia, impaired cognitive function, and hyperactivity...
November 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29160022/first-prenatal-diagnosis-of-a-pure-9q34-3-deletion-kleefstra-syndrome-a-case-report-and-literature-review
#12
Sarah Guterman, Bérénice Hervé, Julie Rivière, Delphine Fauvert, Patrice Clement, François Vialard
Kleefstra syndrome (KS) is characterized by developmental delay, intellectual disability, hypotonia and distinct facial features. Additional clinical features include congenital heart defects, cerebral abnormalities, urogenital defects and weight gain. The syndrome is caused by a microdeletion in chromosomal region 9q34.3 (in 85% of cases) or by a mutation in the EHMT1 gene coding for euchromatin histone methyltransferase 1. The prenatal phenotype has not yet been characterized. Herein, we sought to define this phenotype on the basis of a new case report and literature review...
November 21, 2017: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/29159982/temple-syndrome-as-a-differential-diagnosis-to-prader-willi-syndrome-identifying-three-new-patients
#13
Asgeir Lande, Mette Kroken, Kai Rabben, Lars Retterstøl
The two imprinting syndromes Temple syndrome (TS14) and Prader-Willi syndrome (PWS) share many features in infancy and childhood. TS14 is an important, yet often neglected, differential diagnosis to PWS. We wanted to assess the frequency of TS14 among patients tested for PWS. In all samples submitted to our lab for genetic PWS testing during 2014 and 2015, we consecutively conducted additional analyses for TS14. A total of 143 samples were included. The most frequent indications for testing were developmental delay, overweight, and hypotonia...
November 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29159939/marked-yield-of-re-evaluating-phenotype-and-exome-target-sequencing-data-in-33-individuals-with-intellectual-disabilities
#14
Bing Xiao, Wenjuan Qiu, Xing Ji, Xiaoqing Liu, Zhuo Huang, Huili Liu, Yanjie Fan, Yan Xu, Yu Liu, Hui Yie, Wei Wei, Hui Yan, Zhuwen Gong, Lixiao Shen, Yu Sun
The diagnosis of intellectual disability/developmental delay (ID/DD) benefits from the clinical application of target/exome sequencing. The yield in Mendelian diseases varies from 25% to 68%. The aim of the present study was to identify the genetic causes of 33 ID/DD patients using target/exome sequencing. Recent studies have demonstrated that reanalyzing undiagnosed exomes could yield additional diagnosis. Therefore, in addition to the normal data analysis, in this study, re-evaluation was performed prior to manuscript preparation after updating OMIM annotations, calling copy number variations (CNVs) and reviewing the current literature...
November 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29159459/epg5-related-vici-syndrome-a-primary-defect-of-autophagic-regulation-with-an-emerging-phenotype-overlapping-with-mitochondrial-disorders
#15
Shanti Balasubramaniam, Lisa G Riley, Anand Vasudevan, Mark J Cowley, Velimir Gayevskiy, Carolyn M Sue, Caitlin Edwards, Edward Edkins, Reimar Junckerstorff, C Kiraly-Borri, P Rowe, J Christodoulou
Vici syndrome is a rare, under-recognised, relentlessly progressive congenital multisystem disorder characterised by five principal features of callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and oculocutaneous hypopigmentation. In addition, three equally consistent features (profound developmental delay, progressive failure to thrive and acquired microcephaly) are highly supportive of the diagnosis. Since its recognition as a distinct entity in 1988, an extended phenotype with sensorineural hearing loss, skeletal myopathy and variable involvement of virtually any organ system, including the lungs, thyroid, liver and kidneys, have been described...
November 21, 2017: JIMD Reports
https://www.readbyqxmd.com/read/29158981/fitness-implications-of-sex-specific-catch-up-growth-in-nephila-senegalensis-a-spider-with-extreme-reversed-ssd
#16
Rainer Neumann, Nicole Ruppel, Jutta M Schneider
Background: Animal growth is often constrained by unfavourable conditions and divergences from optimal body size can be detrimental to an individual's fitness, particularly in species with determinate growth and a narrow time-frame for life-time reproduction. Growth restriction in early juvenile stages can later be compensated by means of plastic developmental responses, such as adaptive catch-up growth (the compensation of growth deficits through delayed development). Although sex differences regarding the mode and degree of growth compensation have been coherently predicted from sex-specific fitness payoffs, inconsistent results imply a need for further research...
2017: PeerJ
https://www.readbyqxmd.com/read/29158765/usefulness-of-the-korean-developmental-screening-test-for-infants-and-children-for-the-evaluation-of-developmental-delay-in-korean-infants-and-children-a-single-center-study
#17
Chung-Hyuk Yim, Gun-Ha Kim, Baik-Lin Eun
Purpose: To evaluate the usefulness of the Korean Developmental Screening Test (K-DST) for infants and children for developmental delay assessment. Methods: This study was based on retrospective studies of the results of the K-DST, Preschool Receptive-Expressive Language Scale (PRES), Sequenced Language Scale for Infants (SELSI), Childhood Autism Rating Scale (CARS), Modified Checklist for Autism in Toddlers (M-CHAT), electroencephalography, magnetic resonance imaging, and extensive tests conducted in 209 of 1,403 patients, of whom 758 underwent the K-DST at the Korea University Guro Hospital between January 2015 and December 2016 and 645 were referred from local clinics between January 2015 and June 2016...
October 2017: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/29158552/care-and-cost-consequences-of-pediatric-whole-genome-sequencing-compared-to-chromosome-microarray
#18
Robin Z Hayeems, Jasmin Bhawra, Kate Tsiplova, M Stephen Meyn, Nasim Monfared, Sarah Bowdin, D James Stavropoulos, Christian R Marshall, Raveen Basran, Cheryl Shuman, Shinya Ito, Iris Cohn, Courtney Hum, Marta Girdea, Michael Brudno, Ronald D Cohn, Stephen W Scherer, Wendy J Ungar
The clinical use of whole-genome sequencing (WGS) is expected to alter pediatric medical management. The study aimed to describe the type and cost of healthcare activities following pediatric WGS compared to chromosome microarray (CMA). Healthcare activities prompted by WGS and CMA were ascertained for 101 children with developmental delay over 1 year. Activities following receipt of non-diagnostic CMA were compared to WGS diagnostic and non-diagnostic results. Activities were costed in 2016 Canadian dollars (CDN)...
November 20, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29158440/cohesin-facilitates-zygotic-genome-activation-in-zebrafish
#19
Michael Meier, Jenny Grant, Amy Dowdle, Amarni Thomas, Jennifer Gerton, Philippe Collas, Justin M O'Sullivan, Julia A Horsfield
At zygotic genome activation (ZGA), changes in chromatin structure are associated with new transcription immediately following the maternal-to-zygotic transition (MZT). The nuclear architectural proteins, cohesin and CCCTC-binding factor (CTCF), contribute to chromatin structure and gene regulation. We show here that normal cohesin function is important for ZGA in zebrafish. Depletion of cohesin subunit Rad21 delays ZGA without affecting cell cycle progression. In contrast, CTCF depletion has little effect on ZGA whereas complete abrogation is lethal...
November 20, 2017: Development
https://www.readbyqxmd.com/read/29152901/broad-spectrum-of-neuropsychiatric-phenotypes-associated-with-white-matter-disease-in-pten-hamartoma-tumor-syndrome
#20
Tugce B Balci, Jorge Davila, Denice Lewis, Addo Boafo, Erick Sell, Julie Richer, Sarah M Nikkel, Christine M Armour, Eva Tomiak, Matthew A Lines, Sarah L Sawyer
White matter lesions have been described in patients with PTEN hamartoma tumor syndrome (PHTS). How these lesions correlate with the neurocognitive features associated with PTEN mutations, such as autism spectrum disorder (ASD) or developmental delay, has not been well established. We report nine patients with PTEN mutations and white matter changes on brain magnetic resonance imaging (MRI), eight of whom were referred for reasons other than developmental delay or ASD. Their clinical presentations ranged from asymptomatic macrocephaly with normal development/intellect, to obsessive compulsive disorder, and debilitating neurological disease...
November 20, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
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