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Prenatal disability

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https://www.readbyqxmd.com/read/28921563/advanced-genomic-testing-may-aid-in-counseling-of-isolated-agenesis-of-the-corpus-callosum-on-prenatal-ultrasound
#1
M C de Wit, F Boekhorst, G M Mancini, L S Smit, I A L Groenenberg, J Dudink, F A T de Vries, A T J I Go, R J H Galjaard
OBJECTIVE: Isolated agenesis of the corpus callosum (ACC) on fetal ultrasound has a varied prognosis. Microarray and exome sequencing might aid in prenatal counseling. METHOD: This study includes 25 fetuses with apparently isolated complete ACC (cACC) on ultrasound. All cases were offered SNP array. Complementary exome sequencing (ES) was offered postnatally in selected cases. Clinical physical and neurodevelopmental follow-up was collected. RESULTS: Eighteen cases opted for SNP array testing, which detected a causal anomaly in 2/18(11...
September 16, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28903905/the-pathogenicity-of-genomic-genetic-variant-of-x-chromosomal-genes-in-males-with-intellectual-disability
#2
Ji-Ping Peng, Fang Liu, Hua Xie, Xiao-Li Chen
Intellectual Disability (ID, previously named mental retardation) is a group of common pediatric neurology disorders characterized by extensive genetic and phenotypic heterogeneity. About 25%-50% of ID was caused by genomic/genetic variants, in which genomic/genetic variants of X-chromosome are one of key pathogenic causation (25%-30%), resulting in X-linked ID (XLID). The epidemiological data showed that the male to female ratio is 1.3: 1 in ID patients. The prevalence of XLID in the whole ID population is 10%-15%, and this prevalence reaches 20%-25% in the male ID population...
June 20, 2017: Yi Chuan, Hereditas
https://www.readbyqxmd.com/read/28895873/prenatal-serum-concentrations-of-brominated-flame-retardants-and-autism-spectrum-disorder-and-intellectual-disability-in-the-early-markers-of-autism-study-a-population-based-case-control-study-in-california
#3
Kristen Lyall, Lisa A Croen, Lauren A Weiss, Martin Kharrazi, Michela Traglia, Gerald N Delorenze, Gayle C Windham
BACKGROUND: Prior studies suggest neurodevelopmental impacts of polybrominated diphenyl ethers (PBDEs), but few have examined diagnosed developmental disorders. OBJECTIVES: Our aim was to determine whether prenatal exposure to brominated flame retardants (BFRs) is associated with autism spectrum disorder (ASD) or intellectual disability without autism (ID). METHODS: We conducted a population-based case-control study including children with ASD (n=545) and ID (n=181) identified from the California Department of Developmental Services and general population (GP) controls (n=418) from state birth certificates...
August 30, 2017: Environmental Health Perspectives
https://www.readbyqxmd.com/read/28884947/confirmation-of-an-arid2-defect-in-swi-snf-related-intellectual-disability
#4
Ruben Van Paemel, Pauline De Bruyne, Saskia van der Straaten, Marleen D'hondt, Urlien Fränkel, Annelies Dheedene, Björn Menten, Bert Callewaert
We present a 4-year-old girl with delayed neuromotor development, short stature of prenatal onset, and specific behavioral and craniofacial features harboring an intragenic deletion in the ARID2 gene. The phenotype confirmed the major features of the recently described ARID2-related intellectual disability syndrome. However, our patient showed overlapping features with Nicolaides-Baraitser syndrome and Coffin-Siris syndrome, providing further arguments to reclassify these disorders as "SWI/SNF-related intellectual disability syndromes...
September 8, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28882097/access-and-utilization-of-prenatal-health-care-services-in-rural-communities-a-study-of-isiekenesi-in-imo-state
#5
Okechukwu Odinaka Ajaegbu
Pregnancy and childbirth complications are leading causes of death and disability among women of reproductive age, especially in developing countries, with Nigeria experiencing 576 deaths in every 100,000 births. This is particularly worrisome when most of these deaths could be prevented if pregnant women seek prenatal health care services. It is in the light of the foregoing that this research investigates the level of access and factors that influence use of prenatal health care services in Isiekenesi. Secondary and primary data were used for this study...
January 1, 2017: International Journal of Health Services: Planning, Administration, Evaluation
https://www.readbyqxmd.com/read/28877165/the-effects-of-an-unsupervised-water-exercise-program-on-low-back-pain-and-sick-leave-among-healthy-pregnant-women-a-randomised-controlled-trial
#6
Mette G Backhausen, Ann Tabor, Hanne Albert, Susanne Rosthøj, Peter Damm, Hanne K Hegaard
BACKGROUND: Low back pain is highly prevalent among pregnant women, but evidence of an effective treatment are still lacking. Supervised exercise-either land or water based-has shown benefits for low back pain, but no trial has investigated the evidence of an unsupervised water exercise program on low back pain. We aimed to assess the effect of an unsupervised water exercise program on low back pain intensity and days spent on sick leave among healthy pregnant women. METHODS: In this randomised, controlled, parallel-group trial, 516 healthy pregnant women were randomly assigned to either unsupervised water exercise twice a week for a period of 12 weeks or standard prenatal care...
2017: PloS One
https://www.readbyqxmd.com/read/28874550/prenatal-neurogenesis-induction-therapy-normalizes-brain-structure-and-function-in-down-syndrome-mice
#7
Akiko Nakano-Kobayashi, Tomonari Awaya, Isao Kii, Yuto Sumida, Yukiko Okuno, Suguru Yoshida, Tomoe Sumida, Haruhisa Inoue, Takamitsu Hosoya, Masatoshi Hagiwara
Down syndrome (DS) caused by trisomy of chromosome 21 is the most common genetic cause of intellectual disability. Although the prenatal diagnosis of DS has become feasible, there are no therapies available for the rescue of DS-related neurocognitive impairment. A growth inducer newly identified in our screen of neural stem cells (NSCs) has potent inhibitory activity against dual-specificity tyrosine phosphorylation-regulated kinase 1A (DYRK1A) and was found to rescue proliferative deficits in Ts65Dn-derived neurospheres and human NSCs derived from individuals with DS...
September 5, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28868593/mutation-in-the-agk-gene-in-two-siblings-with-unusual-sengers-syndrome
#8
Sanae Allali, Imen Dorboz, Simon Samaan, Abdelhamid Slama, Charlène Rambaud, Odile Boespflug-Tanguy, Catherine Sarret
Sengers syndrome is a rare autosomal recessive metabolic disorder caused by lack of acylglycerol kinase due to mutations in the AGK gene. It is characterized by congenital cataract, hypertrophic cardiomyopathy, myopathy and lactic acidosis. Two clinical forms have been described: a severe neonatal form, and a more benign form displaying exercise intolerance. We describe two siblings with congenital cataract, cardiomyopathy, hypotonia, intellectual disability and lactic acidosis. Whole exome sequencing revealed a homozygous c...
September 3, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28838601/fetal-alcohol-spectrum-disorders-what-pediatric-providers-need-to-know
#9
Angela Nash, Leah Davies
Prenatal alcohol exposure is the cause of fetal alcohol spectrum disorders (FASDs), the prevalence of which is similar to that of other developmental disabilities like Down syndrome and autism. Children, adolescents, and adults who live with the disabilities associated with prenatal alcohol exposure face extraordinary challenges throughout their lives. Pediatric providers need to be able to identify patients with FASD because early recognition and intervention is known to improve life outcomes for affected individuals...
September 2017: Journal of Pediatric Health Care
https://www.readbyqxmd.com/read/28834683/global-prevalence-of-alcohol-use-and-binge-drinking-during-pregnancy-and-fetal-alcohol-spectrum-disorder
#10
Svetlana Popova, Shannon Lange, Charlotte Probst, Gerrit Gmel, Jürgen Rehm
Alcohol use during pregnancy is an established cause of Fetal Alcohol Spectrum Disorder (FASD), with heavy drinking during pregnancy being explicitly linked to Fetal Alcohol Syndrome (FAS). The current paper presents recent estimates of the prevalence of: i) any amount of alcohol use during pregnancy, ii) one or more binge drinking episode(s) (four or more standard drinks on a single occasion) during pregnancy, iii) FAS, and iv) FASD among the general population globally and by World Health Organization region...
August 23, 2017: Biochemistry and Cell Biology, Biochimie et Biologie Cellulaire
https://www.readbyqxmd.com/read/28832265/access-to-and-satisfaction-with-prenatal-care-among-pregnant-women-with-physical-disabilities-findings-from-a-national-survey
#11
Monika Mitra, Ilhom Akobirshoev, Nechama Sammet Moring, Linda Long-Bellil, Suzanne C Smeltzer, Lauren D Smith, Lisa I Iezzoni
BACKGROUND: Previous qualitative studies suggest that women with physical disabilities face disability-specific barriers and challenges related to prenatal care accessibility and quality. This study aims to examine the pregnancy and prenatal care experiences and needs of U.S. mothers with physical disabilities and their perceptions of their interactions with their maternity care clinicians. MATERIALS AND METHODS: We conducted the first survey of maternity care access and experiences of women with physical disabilities from 37 states...
August 23, 2017: Journal of Women's Health
https://www.readbyqxmd.com/read/28828634/potential-risk-factors-for-birth-fractures-a-case-control-study
#12
Thanase Ariyawatkul, Kitti Worawuthangkul, Chatupon Chotigavanichaya, Kamolporn Kaewpornsawan, Ornusa Chalayon, Perajit Eamsobhana
INTRODUCTION AND HYPOTHESIS: Birth fractures are uncommon but remain a concern among obstetricians. Although such fractures usually heal without long-term sequelae, some are associated with lifelong disabilities, such as brachial plexus injuries. The purpose of this study was primarily to investigate risk factors related to birth fractures. METHODS: This study comprised newborns delivered at our institute between 2003 and 2013. All 46 birth fractures were reviewed and compared with 223 randomly selected normal neonates...
August 21, 2017: International Orthopaedics
https://www.readbyqxmd.com/read/28828483/global-prevalence-of-fetal-alcohol-spectrum-disorder-among-children-and-youth-a-systematic-review-and-meta-analysis
#13
Shannon Lange, Charlotte Probst, Gerrit Gmel, Jürgen Rehm, Larry Burd, Svetlana Popova
Importance: Prevalence estimates are essential to effectively prioritize, plan, and deliver health care to high-needs populations such as children and youth with fetal alcohol spectrum disorder (FASD). However, most countries do not have population-level prevalence data for FASD. Objective: To obtain prevalence estimates of FASD among children and youth in the general population by country, by World Health Organization (WHO) region, and globally. Data Sources: MEDLINE, MEDLINE in process, EMBASE, Education Resource Information Center, Cumulative Index to Nursing and Allied Health Literature, Web of Science, PsychINFO, and Scopus were systematically searched for studies published from November 1, 1973, through June 30, 2015, without geographic or language restrictions...
August 21, 2017: JAMA Pediatrics
https://www.readbyqxmd.com/read/28816000/investigating-facial-phenotype-in-autism-spectrum-conditions-the-importance-of-a-hypothesis-driven-approach
#14
Maryam Boutrus, Murray T Maybery, Gail A Alvares, Diana Weiting Tan, Kandice J Varcin, Andrew J O Whitehouse
Atypical facial characteristics have been observed in many disorders associated with developmental disability. While autism spectrum conditions (ASC) have not previously been thought to be associated with a distinct facial phenotype, an emerging research literature is casting doubt on this assumption. The identification of differences in the facial phenotype of individuals with ASC may contribute to efforts to promote early identification of the condition and help elucidate etiological pathways. With the aim of identifying facial phenotypes associated with ASC, this commentary evaluated facial features purported to distinguish ASC from typical development...
August 17, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28811058/early-detection-of-tuberous-sclerosis-complex-an-opportunity-for-improved-neurodevelopmental-outcome
#15
Clara W T Chung, John A Lawson, Vanessa Sarkozy, Kate Riney, Orli Wargon, Antonia W Shand, Stephen Cooper, Harrison King, Sean E Kennedy, David Mowat
BACKGROUND: Tuberous sclerosis complex (TSC) is an autosomal dominant condition associated with epilepsy, benign tumors, and variable neurodevelopmental outcomes. The diagnosis is most commonly made after epilepsy onset, although a proportion are diagnosed prenatally. Presymptomatic or early treatment with agents such as vigabatrin offers the hope of improved neurodevelopmental outcome. Therefore early diagnosis, before the onset of seizures, is important. In a cohort of children with TSC, we evaluated the age and mode of initial presentation, assessed the neurocognitive and epilepsy outcome, and analyzed whether those diagnosed before the onset of seizures have a different outcome compared with those diagnosed postseizures...
May 26, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28782396/the-comparison-of-intelligence-levels-of-children-born-to-kidney-or-liver-transplant-women-with-children-of-healthy-mothers
#16
Bozena Kociszewska-Najman, Monika Szpotanska-Sikorska, Natalia Mazanowska, Miroslaw Wielgos, Bronislawa Pietrzak
BACKGROUND: Pregnancy after transplantation is associated with high risk of complications and prenatal exposure to immunosuppressants. The purpose of the study was to evaluate the intellectual development of children born to women after organ transplantation. AIMS: A comparison of intelligence levels in 78 children of kidney or liver transplant women of 78 children born to healthy mothers. The assessment of intellectual level in children was conducted by psychologists and evaluated using age-adjusted intelligence tests (Psyche Cattell Infant Intelligence Scale, Terman-Merril Intelligence Scale or the Scales of Raven's Progressive Matrices)...
August 16, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28777864/-genetic-analysis-and-prenatal-diagnosis-for-a-pregnant-woman-with-an-unbalanced-t-1-2-t-6-7-translocation-and-intellectual-disability
#17
Yinhong Zhang, Bicheng Yang, Xinhua Tang, Shu Chen, Rui Yu, Jing He, Jie Su, Shu Zhu, Baosheng Zhu
OBJECTIVE: To provide genetic analysis for a pregnant woman with chromosomal translocations and intellectual disability, and to provide prenatal diagnosis for her fetus. METHODS: Routine G-banding was performed to analyze the karyotypes of the woman and her fetus. Copy number variants were determined with array comparative genomic hybridization (array-CGH). RESULTS: The pregnant woman has carried an apparently balanced translocation involving chromosomes 1, 2, 6 and 7, with a karyotype of 46, XX, t(1;2) (p22;p23), t(6;7) (q21;p15)...
August 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28770443/how-to-proceed-with-examination-of-a-child
#18
REVIEW
Sonia Makhija, Poornima Tiwari
The assessment of a child is quite different from that of adults and requires knowledge of normal variations in anatomy and physiology with growth and development. An important part of initial assessment includes triage and recognizing children with emergency signs so that they can be managed at the earliest to prevent death and referred timely to the specialist. After ruling out emergency signs, the children with priority signs require prompt assessment, management and referral to the specialist. In addition to normal history as in adults, prenatal and birth history, developmental history, immunization history, feeding history and social history are important for complete assessment of the child...
August 3, 2017: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/28765025/congenital-malformations-of-the-central-nervous-system-in-rural-western-honduras-a-6-year-report-on-trends
#19
Dagoberto Estevez-Ordonez, Michael C Dewan, Michael J Feldman, Eleazar E Montalvan-Sanchez, Daniela M Montalvan-Sanchez, Aida A Rodriguez-Murillo, Samuel A Urrutia-Argueta, Charlotte B Cherry, Douglas R Morgan, Roberto Alvarez-Rodriguez, Christopher M Bonfield
BACKGROUND: Central nervous system (CNS) malformations including neural tube defects (NTDs) are the second most common type of birth defects world-wide, and are major causes of childhood disability and mortality. We report the first analysis of prevalence in Western Honduras of CNS malformations including NTDs over six consecutive years. METHODS: Data from all patients with congenital CNS malformations and total live births between 2010 and 2015 were obtained through institution and regional registries from all three public referral hospitals in Western Honduras, representing 67 municipalities...
July 29, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28750130/prevalence-of-hearing-loss-among-children-9-to-11-years-old-the-generation-r-study
#20
Carlijn M P le Clercq, Gijs van Ingen, Liesbet Ruytjens, André Goedegebure, Henriette A Moll, Hein Raat, Vincent W V Jaddoe, Rob J Baatenburg de Jong, Marc P van der Schroeff
Importance: Hearing loss (HL), a major cause of disability globally, negatively affects both personal and professional life. Objective: To describe the prevalence of sensorineural hearing loss (SNHL) among a population-based cohort of 9- to 11-year-old children, and to examine potential associations between purported risk factors and SNHL in early childhood. Design, Setting, and Participants: The study was among the general, nonclinical, pediatric community within the city of Rotterdam, the Netherlands, and was conducted between 2012 and 2015 as a cross-sectional assessment within the Generation R Study, a population-based longitudinal cohort study from fetal life until adulthood...
July 27, 2017: JAMA Otolaryngology—Head & Neck Surgery
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