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https://www.readbyqxmd.com/read/28329909/testing-the-boundaries-of-boundary-extension-anticipatory-scene-representation-across-development-and-disorder
#1
G Spanò, H Intraub, J O Edgin
Recent studies have suggested that Boundary Extension (BE), a scene construction error, may be linked to the function of the hippocampus. In this study, we tested BE in two groups with variations in hippocampal development and disorder: a typically developing sample ranging from preschool to adolescence and individuals with Down syndrome. We assessed BE across three different test modalities: drawing, visual recognition, and a 3D scene boundary reconstruction task. Despite confirmed fluctuations in memory function measured through a neuropsychological assessment, the results showed consistent BE in all groups across test modalities, confirming the near universal nature of BE...
March 22, 2017: Hippocampus
https://www.readbyqxmd.com/read/28328560/surgical-treatment-of-congenital-and-obligatory-dislocation-of-the-patella-in-children
#2
Ronen Sever, Michael Fishkin, Yoram Hemo, Shlomo Wientroub, Moshe Yaniv
BACKGROUND: Congenital (fixed) dislocations and obligatory (habitual) patellar dislocations represent a complex clinical and surgical challenge. Numerous treatment options, offering different perspectives, and surgical solutions are reported in the literature.We implemented the surgical technique principles, originally described by Stanisavljevic, for congenital (fixed) and obligatory (habitual) patellar dislocations, with slight modifications. METHODS: We retrospectively evaluated the results of group of 12 patients (15 knees), operated between the years 2002 and 2013...
March 21, 2017: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/28328132/revised-estimates-of-the-risk-of-fetal-loss-following-a-prenatal-diagnosis-of-trisomy-13-or-trisomy-18
#3
Alana Cavadino, Joan K Morris
Edwards syndrome (trisomy 18) and Patau syndrome (trisomy 13) both have high natural fetal loss rates. The aim of this study was to provide estimates of these fetal loss rates by single gestational week of age using data from the National Down Syndrome Cytogenetic Register. Data from all pregnancies with Edwards or Patau syndrome that were prenatally detected in England and Wales from 2004 to 2014 was analyzed using Kaplan-Meier survival estimates. Pregnancies were entered into the analysis at the time of gestation at diagnosis, and were considered "under observation" until the gestation at outcome...
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28327364/telomere-length-analysis-in-down-syndrome-birth
#4
Pranami Bhaumik, Mandar Bhattacharya, Priyanka Ghosh, Sujoy Ghosh, Subrata Kumar Dey
Human reproductive fitness depends upon telomere chemistry. Maternal age, meiotic nondisjunction error and telomere length of mother of trisomic child are someway associated. Reports exhibiting maternal inheritance of telomere length in Down syndrome child are very scanty. To investigate this, we collected peripheral blood from 170 mothers of Down syndrome child and 186 age matched mothers of euploid child with their newly born babies. Telomere length was measured by restriction digestion - southern blotting technique...
March 19, 2017: Mechanisms of Ageing and Development
https://www.readbyqxmd.com/read/28326320/duodenal-atresia-open-versus-mis-repair-analysis-of-our-experience-over-the-last-12-years
#5
Salvatore Fabio Chiarenza, Valeria Bucci, Maria Luisa Conighi, Elisa Zolpi, Lorenzo Costa, Lorella Fasoli, Cosimo Bleve
Objective. Duodenal atresia (DA) routinely has been corrected by laparotomy and duodenoduodenostomy with excellent long-term results. We revisited the patients with DA treated in the last 12 years (2004-2016) comparing the open and the minimally invasive surgical (MIS) approach. Methods. We divided our cohort of patients into two groups. Group 1 included 10 patients with CDO (2004-09) treated with open procedure: 5, DA; 3, duodenal web; 2, extrinsic obstruction. Three presented with Down's syndrome while 3 presented with concomitant malformations...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28326014/the-gabaergic-hypothesis-for-cognitive-disabilities-in-down-syndrome
#6
REVIEW
Andrea Contestabile, Salvatore Magara, Laura Cancedda
Down syndrome (DS) is a genetic disorder caused by the presence of a third copy of chromosome 21. DS affects multiple organs, but it invariably results in altered brain development and diverse degrees of intellectual disability. A large body of evidence has shown that synaptic deficits and memory impairment are largely determined by altered GABAergic signaling in trisomic mouse models of DS. These alterations arise during brain development while extending into adulthood, and include genesis of GABAergic neurons, variation of the inhibitory drive and modifications in the control of neural-network excitability...
2017: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/28322650/parental-feeding-behaviors-and-weight-related-concerns-in-children-with-special-needs
#7
Michele Polfuss, Pippa Simpson, Rachel Neff Greenley, Liyun Zhang, Kathleen J Sawin
Parental feeding behaviors and concern about child weight are associated with obesity among youth who are typically developing. Little is known about this relationship among parents of youth with special needs, despite these children having higher obesity risk. This study used an online survey to explore associations among parental feeding behaviors, parent weight concerns, demographics, and child weight status in a sample of 356 parents of children diagnosed with autism spectrum disorder, spina bifida, and Down syndrome...
January 1, 2017: Western Journal of Nursing Research
https://www.readbyqxmd.com/read/28322457/declining-antibody-levels-after-hepatitis-b-vaccination-in-down-syndrome-a-need-for-booster-vaccination
#8
N B Eijsvoogel, M I Hollegien, L A Bok, A Derksen-Lubsen, F Dikken, A C A P Leenders, A Pijning, E Post, M Wojciechowski, M Hilbink, E de Vries
We determined the anti-HBs titer in 227 children of all ages with Down syndrome (DS). Only 48.1% (95% CI: 35.1-61.3) of the DS children aged 7-10 years and 31.9% (95% CI: 22.1-43.6) of the DS children aged >10 years had a protective anti-HBs titer (≥10 IU/l). The geometric mean anti-HBs titer was significantly lower in the DS children; this suggests booster vaccination for HBV may be needed. This article is protected by copyright. All rights reserved.
March 21, 2017: Journal of Medical Virology
https://www.readbyqxmd.com/read/28320584/growth-charts-for-brazilian-children-with-down-syndrome-birth-to-20-years-of-age
#9
Fabio Bertapelli, Stamatis Agiovlasitis, Maira Rossmann Machado, Raísa do Val Roso, Gil Guerra-Junior
BACKGROUND: The growth of youth with Down syndrome (DS) differs from that of youth without DS, and growth charts specific to DS have been developed. However, little is known about the growth of Brazilian youth with DS. The objective of this study was to construct growth charts for Brazilian youth with DS and compare the growth data with the Child Growth Standards of the World Health Organization (WHO) and charts for children with DS from other studies. METHODS: Mixed longitudinal and cross-sectional data were collected at University of Campinas, 48 specialized centers for people with intellectual disabilities, and two foundations for people with DS between 2012 and 2015...
March 17, 2017: Journal of Epidemiology
https://www.readbyqxmd.com/read/28320334/use-of-a-patient-decision-aid-for-prenatal-screening-for-down-syndrome-what-do-pregnant-women-say
#10
Maria Esther Leiva Portocarrero, Anik M C Giguère, Johanie Lépine, Mirjam M Garvelink, Hubert Robitaille, Agathe Delanoë, Isabelle Lévesque, Brenda J Wilson, François Rousseau, France Légaré
BACKGROUND: Patient decision aids (PtDAs) help people make difficult, values-sensitive decisions. Prenatal screening for assessing the risk of genetic conditions in the fetus is one such decision and patient decision aids are rarely used in this clinical context. We sought to identify factors influencing pregnant women's use of a patient decision aid for deciding about prenatal screening for Down syndrome (DS). METHODS: This qualitative study was embedded in a sequential mixed-methods research program whose main aim is to implement shared decision-making (SDM) in the context of prenatal screening for DS in the province of Quebec, Canada...
March 20, 2017: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/28301716/prenatal-screening-it-is-not-just-about-down-syndrome
#11
Mary E Norton
Currently available prenatal genetic testing options include a bewildering array of tests from which patients, providers, insurers, and various health systems have to select. In many cases, patients or providers undergo or recommend multiple screening tests focused on the same conditions, for fear of missing something, even if the chance of that is very small. In the commentary in this issue of BJOG by Alfirevic and colleagues (Alfirevic Z, et al. BJOG In Press), the authors opine on the relationship between cell free DNA screening (cfDNA) and first trimester anatomy ultrasound...
March 16, 2017: BJOG: An International Journal of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28295826/prevalence-types-and-associations-of-medically-unexplained-symptoms-and-signs-a-cross-sectional-study-of-1023-adults-with-intellectual-disabilities
#12
M Osugo, J Morrison, L Allan, D Kinnear, S-A Cooper
BACKGROUND: Medically unexplained symptoms and signs are common in the general population and can respond to appropriate managements. We aimed to quantify the types and prevalence of unexplained symptoms and signs experienced by adults with ID and to determine the associated factors. METHOD: In a population-based study, 1023 adults with ID aged 16 and over had a detailed health assessment, which systematically considered symptoms and signs. Descriptive data were generated on their symptoms and signs...
March 9, 2017: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/28295291/study-of-the-extent-of-information-desired-by-women-undergoing-non-invasive-prenatal-testing-following-positive-prenatal-down-syndrome-screening-test-results
#13
Tsz-Kin Lo, Kelvin Yuen-Kwong Chan, Anita Sik-Yau Kan, Po-Lam So, Choi-Wah Kong, Shui-Lam Mak, Chung-Nin Lee
In addition to common trisomies, the inclusion of sex chromosomes and atypical autosomal anomalies in non-invasive prenatal tests (NIPTs) is becoming increasingly common; this is the result of limited screening alternatives that can identify them [1]. It has been recommended that healthcare practitioners understand patient preferences thoroughly [1], and that, given the complexity of NIPTs, patients be given the option to accept or reject this additional information [2, 3]. However, how much information patients want from NIPTs in a real-life clinical setting remains unknown...
March 12, 2017: International Journal of Gynaecology and Obstetrics
https://www.readbyqxmd.com/read/28295159/first-and-second-trimester-serum-tests-with-and-without-first-trimester-ultrasound-tests-for-down-s-syndrome-screening
#14
REVIEW
S Kate Alldred, Yemisi Takwoingi, Boliang Guo, Mary Pennant, Jonathan J Deeks, James P Neilson, Zarko Alfirevic
BACKGROUND: Down's syndrome occurs when a person has three copies of chromosome 21 (or the specific area of chromosome 21 implicated in causing Down's syndrome) rather than two. It is the commonest congenital cause of mental disability. Non-invasive screening based on biochemical analysis of maternal serum or urine, or fetal ultrasound measurements, allows estimates of the risk of a pregnancy being affected and provides information to guide decisions about definitive testing.  Before agreeing to screening tests, parents need to be fully informed about the risks, benefits and possible consequences of such a test...
March 15, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28295158/first-trimester-ultrasound-tests-alone-or-in-combination-with-first-trimester-serum-tests-for-down-s-syndrome-screening
#15
REVIEW
S Kate Alldred, Yemisi Takwoingi, Boliang Guo, Mary Pennant, Jonathan J Deeks, James P Neilson, Zarko Alfirevic
BACKGROUND: Down's syndrome occurs when a person has three, rather than two copies of chromosome 21; or the specific area of chromosome 21 implicated in causing Down's syndrome. It is the commonest congenital cause of mental disability and also leads to numerous metabolic and structural problems. It can be life-threatening, or lead to considerable ill health, although some individuals have only mild problems and can lead relatively normal lives. Having a baby with Down's syndrome is likely to have a significant impact on family life...
March 15, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28294169/comparison-of-body-adiposity-index-bai-and-air-displacement-plethysmograph-with-estimations-of-body-fat-in-adults-with-down-s-syndrome
#16
M Rossato, R A Dellagrana, E de Souza Bezerra, R M da Costa, J O L Dos Santos, D A S Silva, F Diefenthaeler
BACKGROUND/OBJECTIVES: The aim of this study was to verify the agreement between body fat percentage (%BF) values evaluated by air displacement plethysmograph (ADP) and body adiposity index (BAI) in adults with Down's syndrome (DS). SUBJECTS/METHODS: Forty-five adults with DS volunteered to participate in this study (19 women; age 28.7±8.5 years and 26 men; age 29.1±8.8 years). The %BF was measured by ADP (%BFADP) and estimated by anthropometric measures [%BF=(hip circumference/height)(1...
March 15, 2017: European Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/28292706/effect-of-airflow-and-material-models-on-tissue-displacement-for-surgical-planning-of-pharyngeal-airways-in-pediatric-down-syndrome-patients
#17
Dhananjay Radhakrishnan Subramaniam, Goutham Mylavarapu, Robert J Fleck, Raouf S Amin, Sally R Shott, Ephraim J Gutmark
Pharyngeal narrowing in obstructive sleep apnea (OSA) results from flow-induced displacement of soft tissue. The objective of this study is to evaluate the effect of airflow parameters and material model on soft tissue displacement for planning surgical treatment in pediatric patients with OSA and Down syndrome (DS). Anatomically accurate, three-dimensional geometries of the pharynx and supporting tissue were reconstructed for one pediatric OSA patient with DS using magnetic resonance images. Six millimeters of adenoid tissue was virtually removed based on recommendations from the surgeon, to replicate the actual adenoidectomy...
March 8, 2017: Journal of the Mechanical Behavior of Biomedical Materials
https://www.readbyqxmd.com/read/28289920/the-early-presentation-of-dementia-in-people-with-down-syndrome-a-systematic-review-of-longitudinal-studies
#18
REVIEW
Bianca Alexandra Lautarescu, Anthony John Holland, Shahid H Zaman
Adults with Down syndrome (DS) are at a very high risk of developing early onset Alzheimer's disease (AD) due to trisomy of chromosome 21. AD is preceded by a prolonged prodromal "pre-clinical" phase presenting with clinical features that do not fulfil the diagnostic criteria for AD. It is important to clinically characterise this prodromal stage to help early detection of the disease as neuropathology of AD is almost universal by the fifth decade in DS. There is a lack of knowledge of the trajectory of decline associated with the onset of dementia in this population and early signs may be overlooked or misdiagnosed, negatively affecting the quality of life of those affected and the use of early pharmacological or psychosocial interventions...
March 13, 2017: Neuropsychology Review
https://www.readbyqxmd.com/read/28289641/motor-and-cognitive-developmental-profiles-in-children-with-down-syndrome
#19
Hyo In Kim, Seong Woo Kim, Jiyong Kim, Ha Ra Jeon, Da Wa Jung
OBJECTIVE: To investigate motor and cognitive developmental profiles and to evaluate the correlation between two developmental areas and assess the influencing factors of the developmental process in children with Down syndrome (DS). METHODS: Seventy-eight children with DS participated in this study. The medical history was taken and motoric milestone achievements recorded. The Korean Wechsler Preschool and Primary Scale of Intelligence (K-WPPSI) and Bayley Scales of Infant Development-II (BSID-II) were administered...
February 2017: Annals of Rehabilitation Medicine
https://www.readbyqxmd.com/read/28288016/variability-in-objective-refraction-for-persons-with-down-syndrome
#20
Jason D Marsack, Ayeswarya Ravikumar, Julia S Benoit, Heather A Anderson
PURPOSE: Down syndrome (DS) is associated with ocular and cognitive sequelae, which both have the potential to influence clinical measures of refractive error. This study compares variability of autorefraction among subjects with and without DS. METHODS: Grand Seiko autorefraction was performed on 139 subjects with DS (age: 8-55, mean: 25 ± 9 yrs) and 138 controls (age: 7-59, mean: 25 ± 10 yrs). Subjects with three refraction measures per eye (DS: 113, control: 136) were included for analysis...
March 11, 2017: Optometry and Vision Science: Official Publication of the American Academy of Optometry
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