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Prenatal disability

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https://www.readbyqxmd.com/read/29779396/cultural-models-of-child-disability-perspectives-of-parents-in-malaysia
#1
Jennifer Marshall, Elizabeth Doone, Mindy Price
BACKGROUND: This study examined parents' developmental concerns for their children within the context of systems of care in Malaysia. METHODS: Focus groups and interviews were conducted in peninsular Malaysia and Borneo. RESULTS: Parents' perceptions of developmental delay stemmed from three sources: the cultural, resource, and the social environments. CONCLUSION: There is a need to develop a medical support system in Malaysia that considers a life-course perspective, including prenatal care, screening/diagnosis, and services...
May 20, 2018: Disability and Rehabilitation
https://www.readbyqxmd.com/read/29775869/mathematics-intervention-for-children-with-fetal-alcohol-spectrum-disorder-a-replication-and-extension-of-the-math-interactive-learning-experience-mile-program
#2
Katrina Kully-Martens, Jacqueline Pei, Julie Kable, Claire D Coles, Gail Andrew, Carmen Rasmussen
BACKGROUND: Individuals with fetal alcohol spectrum disorders (FASD) experience deficits in behavior, cognition, and academic functioning resulting from prenatal alcohol exposure (PAE). Although receiving intervention for developmental disabilities is a strong protective factor against negative outcomes in FASD, intervention research in this population is in its infancy. AIMS: The purpose of this study was to replicate and extend a mathematics intervention, the Math Interactive Learning Experience (MILE) program, which was developed in the USA specifically for children with FASD...
May 15, 2018: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/29764281/parent-experiences-and-preferences-when-dysmelia-is-identified-during-the-prenatal-and-perinatal-periods-a-qualitative-study-into-family-nursing-care-for-rare-diseases
#3
Judith Johnson, Olivia Johnson, Jane Heyhoe, Charlotte Fielder, Alice Dunning
Several rare diseases are regularly identified during the prenatal and perinatal periods, including dysmelia. How these are communicated to parents has a marked emotional impact, but minimal research has investigated this. The purpose of this study was to explore parent experiences and preferences when their baby was diagnosed with dysmelia. Mothers and fathers were interviewed. Data were analyzed using thematic analysis. The overriding emotion parents experienced was shock, but the extent of this was influenced by several factors including their previous experience of disability...
May 1, 2018: Journal of Family Nursing
https://www.readbyqxmd.com/read/29758264/anti-il17-treatment-ameliorates-down-syndrome-phenotypes-in-mice
#4
Noemí Rueda, Verónica Vidal, Susana García-Cerro, Josep Oriol Narcís, María Llorens-Martín, Andrea Corrales, Sara Lantigua, Marcos Iglesias, Jesús Merino, Ramón Merino, Carmen Martínez-Cué
Down syndrome (DS) is characterized by structural and functional anomalies that are present prenatally and that lead to intellectual disabilities. Later in life, the cognitive abilities of DS individuals progressively deteriorate due to the development of Alzheimer's disease (AD)-associated neuropathology (i.e., β-amyloid (Aβ) plaques, neurofibrillary tangles (NFTs), neurodegeneration, synaptic pathology, neuroinflammation and increased oxidative stress). Increasing evidence has shown that among these pathological processes, neuroinflammation plays a predominant role in AD etiopathology...
May 11, 2018: Brain, Behavior, and Immunity
https://www.readbyqxmd.com/read/29748952/disentangling-tourette-syndrome-heterogeneity-through-hierarchical-ascendant-clustering
#5
Elena Cravedi, Emmanuelle Deniau, Marianna Giannitelli, Hugues Pellerin, Virginie Czernecki, Tiphanie Priou, Jean Xavier, Angèle Consoli, Andreas Hartmann, David Cohen
AIM: To explore the heterogeneity of Tourette syndrome as part of a neurodevelopmental spectrum. METHOD: Using hierarchical ascendant clustering based on tic symptoms, developmental milestones, and neurodevelopmental comorbidities, we analyzed the heterogeneity of Tourette syndrome phenotypes in a sample of 174 children and adolescents with Tourette syndrome referred to a tertiary university clinic. RESULTS: The model yielded three distinct clusters characterized as follows...
May 10, 2018: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/29720288/prenatal-malnutrition-and-adult-cognitive-impairment-a-natural-experiment-from-the-1959-1961-chinese-famine
#6
Ping He, Li Liu, J M Ian Salas, Chao Guo, Yunfei Cheng, Gong Chen, Xiaoying Zheng
The current measures of cognitive functioning in adulthood do not indicate a long-term association with prenatal exposure to the Dutch famine. However, whether such association emerges in China is poorly understood. We aimed to investigate the potential effect of prenatal exposure to the 1959-1961 Chinese famine on adult cognitive impairment. We obtained data from the Second National Sample Survey on Disability implemented in thirty-one provinces in 2006, and restricted our analysis to 387 093 individuals born in 1956-1965...
May 3, 2018: British Journal of Nutrition
https://www.readbyqxmd.com/read/29716957/lifespan-analysis-of-brain-development-gene-expression-and-behavioral-phenotypes-in-the-ts1cje-ts65dn-and-dp-16-1-yey-mouse-models-of-down-syndrome
#7
Nadine M Aziz, Faycal Guedj, Jeroen L A Pennings, Jose Luis Olmos-Serrano, Ashley Siegel, Tarik F Haydar, Diana W Bianchi
Down syndrome (DS) results from triplication of human chromosome 21. Neuropathological hallmarks of DS include atypical central nervous system development that manifests prenatally and extends throughout life. As a result, individuals with DS exhibit cognitive and motor deficits and have delays in achieving developmental milestones. To determine whether different mouse models of DS recapitulate the human prenatal and postnatal phenotypes, here we directly compared brain histogenesis, gene expression, and behavior over the lifespan of three cytogenetically distinct mouse models of DS: Ts1Cje, Ts65Dn and Dp(16)1/Yey...
April 30, 2018: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/29705191/society-for-maternal-fetal-medicine-smfm-consult-series-45-mild-fetal-ventriculomegaly-diagnosis-evaluation-and-management
#8
Nathan S Fox, Ana Monteagudo, Jeffrey A Kuller, Sabrina Craigo, Mary E Norton
Ventriculomegaly is defined as dilation of the fetal cerebral ventricles and is a relatively common finding on prenatal ultrasound. The purpose of this document is to review the diagnosis, evaluation, and management of mild fetal ventriculomegaly. When enlargement of the lateral ventricles (≥10 mm) is identified, a thorough evaluation should be performed, including detailed sonographic evaluation of fetal anatomy, amniocentesis for karyotype and chromosomal microarray analysis (CMA), and a workup for fetal infection...
April 26, 2018: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29695408/ethics-of-routine-a-critical-analysis-of-the-concept-of-routinisation-in-prenatal-screening
#9
Adriana Kater-Kuipers, Inez D de Beaufort, Robert-Jan H Galjaard, Eline M Bunnik
In the debate surrounding the introduction of non-invasive prenatal testing (NIPT) in prenatal screening programmes, the concept of routinisation is often used to refer to concerns and potential negative consequences of the test. A literature analysis shows that routinisation has many different meanings, which can be distinguished in three major versions of the concept. Each of these versions comprises several inter-related fears and concerns regarding prenatal screening and particularly regarding NIPT in three areas: (1) informed choice, (2) freedom to choose and (3) consequences for people with a disability...
April 25, 2018: Journal of Medical Ethics
https://www.readbyqxmd.com/read/29693325/phenotypes-in-siblings-with-homozygous-mutations-of-trappc9-and-or-mcph1-support-a-bifunctional-model-of-mcph1
#10
Sarah Duerinckx, Marije Meuwissen, Camille Perazzolo, Laurence Desmyter, Isabelle Pirson, Marc Abramowicz
BACKGROUND: Autosomal recessive intellectual disability (ARID) is vastly heterogeneous. Truncating mutations of TRAPPC9 were reported in 8 ARID families. Autosomal recessive primary microcephaly (MCPH) represents another subgroup of ARID, itself very heterogeneous, where the size of the brain is very small since birth. MCPH1 plays a role at the centrosome via a BRCT1 domain, and in DNA Damage Repair (DDR) via BRCT2 and BRCT3, and it is not clear which of these two mechanisms causes MCPH in man...
April 24, 2018: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29681103/comparison-of-perinatal-factors-in-deletion-versus-uniparental-disomy-in-prader-willi-syndrome
#11
June-Anne Gold, Ranim Mahmoud, Suzanne B Cassidy, Virginia Kimonis
Prader-Willi syndrome (PWS) is caused by a deficiency of imprinted genes in the 15q11-q13 region and is characterized by prenatal onset of hypotonia, poor feeding, childhood-onset obesity, hyperphagia, short stature, facial dysmorphism, intellectual disability, and behavioral problems. We studied perinatal factors in a cohort of 64 people with PWS resulting from paternal deletion of 15q11-q13 and maternal uniparental disomy (UPD) for chromosome 15. We recruited 34 individuals with deletion and 30 with UPD. We compared the frequency of multiple prenatal and neonatal factors with the general population as well as between the two genetic subtypes...
May 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29672865/dietary-iron-fortification-normalizes-fetal-hematology-hepcidin-and-iron-distribution-in-a-rat-model-of-prenatal-alcohol-exposure
#12
Shane M Huebner, Kaylee K Helfrich, Nipun Saini, Sharon E Blohowiak, Adrienne A Cheng, Pamela J Kling, Susan M Smith
BACKGROUND: Prenatal alcohol exposure (PAE) causes neurodevelopmental disability. Clinical and animal studies show gestational iron deficiency exacerbates PAE's behavioral and growth deficits. In rat, PAE manifests an inability to establish iron homeostasis, increasing hepcidin (maternal and fetal) and fetal liver iron while decreasing brain iron and promoting anemia. Here, we hypothesize dietary iron fortification during pregnancy may mitigate alcohol's disruption of fetal iron homeostasis...
April 19, 2018: Alcoholism, Clinical and Experimental Research
https://www.readbyqxmd.com/read/29664026/prenatal-screening-for-genetic-disorders-suggested-guidelines-for-the-indian-scenario
#13
REVIEW
Shubha R Phadke, Ratna D Puri, Prajnya Ranganath
Prenatal testing is the best strategy for reducing the burden of genetic disorders and congenital disabilities that cause significant postnatal functional impairment. Universal prenatal screening is advisable for common genetic disorders and congenital anomalies such as Down syndrome, beta-thalassaemia and neural tube defects. Several prenatal-screening tests are now available for Down syndrome, but knowledge about the appropriate timing of the test and the need for pre- and post-test counselling may not be updated among the primary care physicians...
December 2017: Indian Journal of Medical Research
https://www.readbyqxmd.com/read/29650748/exploring-the-prenatal-experience-of-women-with-intellectual-and-developmental-disabilities-in-a-southeastern-ontario-family-health-team
#14
Elaine Xie, Meg Gemmill
OBJECTIVE: To identify psychosocial challenges facing pregnant women with intellectual and developmental disabilities (IDD) using retrospective, routinely collected electronic medical record data. DESIGN: A retrospective qualitative study using narratives and supporting documents found in the electronic medical record of an academic family health team (FHT). SETTING: Academic FHT in southeastern Ontario. PARTICIPANTS: A sample of 10 women with a diagnosis of IDD, rostered to physicians at the academic FHT, who delivered a child between January 2010 and June 2015 (14 pregnancies)...
April 2018: Canadian Family Physician Médecin de Famille Canadien
https://www.readbyqxmd.com/read/29649181/minor-neurological-dysfunctions-mnds-in-autistic-children-without-intellectual-disability
#15
Gabriele Tripi, Sylvie Roux, Marco Carotenuto, Frédérique Bonnet-Brilhault, Michele Roccella
BACKGROUND: Children with autism spectrum disorder (ASD) require neurological evaluation to detect sensory-motor impairment. This will improve understanding of brain function in children with ASD, in terms of minor neurological dysfunctions (MNDs). METHODS: We compared 32 ASD children without intellectual disability (IQ ≥ 70) with 32 healthy controls. A standardized and age-specific neurological examination according to Touwen was used to detect the presence of MNDs...
April 12, 2018: Journal of Clinical Medicine
https://www.readbyqxmd.com/read/29644084/primary-microcephaly-caused-by-novel-compound-heterozygous-mutations-in-aspm
#16
Nobuhiko Okamoto, Tomohiro Kohmoto, Takuya Naruto, Kiyoshi Masuda, Issei Imoto
Autosomal recessive primary microcephaly (microcephaly primary hereditary, MCPH) is a genetically heterogeneous rare developmental disorder that is characterized by prenatal onset of abnormal brain growth, which leads to intellectual disability of variable severity. We report a 5-year-old male who presented with a severe form of primary microcephaly. Targeted panel sequencing revealed compound heterozygous truncating mutations of the abnormal spindle-like microcephaly-associated ( ASPM ) gene, which confirmed the MCPH5 diagnosis...
2018: Human Genome Variation
https://www.readbyqxmd.com/read/29628052/promoting-best-practice-for-perinatal-care-of-deaf-women
#17
REVIEW
Lori J Hubbard, Elizabeth D'Andrea, Luke A Carman
To evaluate perinatal nursing care for Deaf women, we conducted a pilot, descriptive study exploring women's prenatal, labor, and postpartum experiences. We used the Quality and Safety Education for Nurses (QSEN) framework to analyze women's responses and to explore implications for practice. Themes and women's stories are presented within the QSEN structure to promote informed and individualized perinatal nursing care for Deaf families. It is essential for nurses to stay abreast of resources and technological advances and to use culturally competent principles of communication...
April 2018: Nursing for Women's Health
https://www.readbyqxmd.com/read/29610615/surgical-management-of-facial-features-of-robinow-syndrome-a-case-report
#18
Aida M Mossaad, Moustapha A Abdelrahman, Mostafa A Ibrahim, Hatem H Al Ahmady
BACKGROUND: Robinow Syndrome is an extremely rare genetic disorder characterised by abnormalities in head, face and external genitalia. This disorder exists in dominant pattern with moderate symptoms and recessive pattern with more physical and skeletal abnormalities. It was first introduced by Menihard Robinow in 1969. It was related to chromosome 9q22 ROR2 gene related to bone and cartilage growth aspects. CASE PRESENTATION: A 17-year-old Egyptian male presented to National Research Centre Orodental genetics Clinic with typical features of short stature and facial dysmorphism weighted 50 Kg and measured 150 cm height complaining of facial dis figurement...
March 15, 2018: Open Access Macedonian Journal of Medical Sciences
https://www.readbyqxmd.com/read/29581094/prenatal-remote-monitoring-of-women-with-gestational-hypertensive-diseases-cost-analysis
#19
Dorien Lanssens, Thijs Vandenberk, Christophe Jp Smeets, Hélène De Cannière, Sharona Vonck, Jade Claessens, Yenthel Heyrman, Dominique Vandijck, Valerie Storms, Inge M Thijs, Lars Grieten, Wilfried Gyselaers
BACKGROUND: Remote monitoring in obstetrics is relatively new; some studies have shown its effectiveness for both mother and child. However, few studies have evaluated the economic impact compared to conventional care, and no cost analysis of a remote monitoring prenatal follow-up program for women diagnosed with gestational hypertensive diseases (GHD) has been published. OBJECTIVE: The aim of this study was to assess the costs of remote monitoring versus conventional care relative to reported benefits...
March 26, 2018: Journal of Medical Internet Research
https://www.readbyqxmd.com/read/29573218/understanding-environmental-contributions-to-autism-causal-concepts-and-the-state-of-science
#20
REVIEW
Irva Hertz-Picciotto, Rebecca J Schmidt, Paula Krakowiak
The complexity of neurodevelopment, the rapidity of early neurogenesis, and over 100 years of research identifying environmental influences on neurodevelopment serve as backdrop to understanding factors that influence risk and severity of autism spectrum disorder (ASD). This Keynote Lecture, delivered at the May 2016 annual meeting of the International Society for Autism Research, describes concepts of causation, outlines the trajectory of research on nongenetic factors beginning in the 1960s, and briefly reviews the current state of this science...
March 23, 2018: Autism Research: Official Journal of the International Society for Autism Research
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