keyword
https://read.qxmd.com/read/38726075/investigating-the-association-between-the-lunar-cycle-and-sleep-physiological-cognitive-and-physical-performance-in-children-with-down-syndrome
#1
JOURNAL ARTICLE
Zohra Lammouchi, Noomen Guelmami, Salma Abedelmalek, Mouna Saidane, Hatem Ghouili, Mahmoud Rebhi, Mohamed Saifedine Fessi, Mohamed Ben Aissa, Hafsi Bedhioufi, Helmi Ben Saad, Ismail Dergaa
BACKGROUND: Children with Down syndrome (DS) offer a compelling context within the fieldof human biology for examining potential lunar influences. While the exact mechanisms governing lunar effects are still under investigation, a growing body of scientific inquiry suggests possible connections between lunar phases and physiological, physical, and cognitive parameters. This investigation holds promise for uncovering the intricate interplay between lunar cycles (LCs) and the unique biology of children with DS...
2024: Journal of Education and Health Promotion
https://read.qxmd.com/read/38717090/-mthfr-677c-t-and-1298a-c-variants-in-mothers-of-infants-with-down-syndrome-from-western-mexico
#2
JOURNAL ARTICLE
Yaneris Maibeth Romero-Bolaño, Lucina Bobadilla-Morales, Alfredo Corona-Rivera, Idalid Cuero-Quezada, Jennifer Santana-Hernández, Christian Peña-Padilla, Alejandro Brukman-Jiménez, Mireya Orozco-Vela, Natalia Navia-Espinoza, Jorge Román Corona-Rivera
Background: Several studies in mothers of infants with Down syndrome (DS) (MoIDS) have suggested that the 677C>T and 1298A>C variants of the 5,10-methylentetrahydrofolate reductase ( MTHFR ) gene can increase the risk of having a child with DS. Aim: This study aimed to evaluate the MTHFR 677C>T and 1298A>C variants as potential maternal risk factors for DS. Materials and Methods: Using TaqMan allelic discrimination assay, we genotyped 95 MoIDS and 164 control mothers from western Mexico. Data were analyzed using logistic regression analysis...
May 8, 2024: Genetic Testing and Molecular Biomarkers
https://read.qxmd.com/read/38711256/adolescents-implicit-and-explicit-attitudes-toward-their-peers-with-genetic-conditions
#3
JOURNAL ARTICLE
Tasha Wainstein, David Yeung, Lauren Jennings, Alison M Elliott
INTRODUCTION: Previous research has demonstrated that children lacking knowledge about genetic disorders may have harmful attitudes toward people with disabilities, but disability awareness can successfully modify these attitudes. We explored adolescents' implicit and explicit attitudes toward peers with genetic conditions to determine whether improved genetics/genomics literacy can mitigate the impact of ableism in this population. METHODS: English-speaking adolescents (10-18 years) from British Columbia were invited to complete a Disability Attitudes Implicit Association Test (DA-IAT) and participate in a semi-structured focus group centering on a fictionalized vignette about an adolescent with Down syndrome...
May 6, 2024: Journal of Adolescence
https://read.qxmd.com/read/38701550/rate-and-management-of-tympanic-membrane-perforations-in-children-with-down-syndrome-and-middle-ear-disorder
#4
JOURNAL ARTICLE
Nicole A Stoler, Brielle R Crovetti, Ana M Rosas Herrera, Mary Frances Musso, Yi-Chun Carol Liu
OBJECTIVE: To characterize the management and outcomes of observation versus surgical intervention of tympanic membrane (TM) perforations in children with Down syndrome (DS). In addition, to estimate the prevalence of TM perforations in children with DS. METHODS: Retrospective case review analysis of TM perforation rate in children with DS with history of tympanostomy tube (TT) insertion at a tertiary pediatric referral center. Patients were divided into observation or surgical intervention groups and then further evaluated for the type of intervention, the number of required procedures, and success rate of hearing improvement...
April 14, 2024: International Journal of Pediatric Otorhinolaryngology
https://read.qxmd.com/read/38699501/knowledge-of-developmental-disabilities-and-referral-sources-among-health-workers-in-two-ghanaian-hospitals
#5
JOURNAL ARTICLE
Blessed Sheriff, Kwame Sakyi, Esther K Malm, Celeste Zabel, Prince G Owusu, Leonie-Akofio Sowah, Adote Anum
Proper treatment of developmental disabilities requires health workers to have adequate knowledge of etiology and referral procedures. There is a dearth of research on knowledge of developmental disabilities among health workers in Ghana. The purpose of this study was to document knowledge about developmental disorders, causes, and referral procedures among health workers. Researchers used a successive free-listing method to interview 37 health workers. Developmental disabilities which present with physical symptoms were the most salient disorders identified among health workers, while learning disabilities and attention deficit disorder were largely overlooked...
2024: International Journal of Developmental Disabilities
https://read.qxmd.com/read/38699493/the-experiences-of-new-mothers-accessing-feeding-support-for-infants-with-down-syndrome-during-the-covid-19-pandemic
#6
JOURNAL ARTICLE
L Hielscher, A Ludlow, S E Mengoni, S Rogers, K Irvine
Infants with Down syndrome are more likely to experience feeding problems and mothers are likely to require more feeding support than mothers of typically developing infants. During the COVID-19 pandemic, many feeding support services changed from face-to-face to online, which impacted some maternal feeding experiences negatively, but no studies to date have explored the impact for mothers of infants with Down syndrome. Thematic analysis was conducted on semi-structured interviews from thirteen new mothers of infants (aged 8-17 months) with Down syndrome in the UK...
2024: International Journal of Developmental Disabilities
https://read.qxmd.com/read/38699487/a-comparison-of-the-physical-fitness-of-individuals-with-intellectually-disabilities-autism-spectrum-disorders-and-down-syndrome-diagnosis
#7
JOURNAL ARTICLE
Atike Yılmaz, Fatih Mirze
Introduction: This article reports the physical abilities and physical wellness of three groups of children with different neurodevelopmental disabilities: Autism, Down Syndrome and Intellectual Disability. Methods: The causal-comparative research method was implemented in this study. The participants comprised 32 students with moderate intellectual disabilities, 18 with autism spectrum disorder, and 22 with down syndrome. The body mass index (BMI), flexibility, standing long jump, sitting height, stroke length, and medicine ball throwing levels were measured for physical fitness, and the groups were compared afterward...
2024: International Journal of Developmental Disabilities
https://read.qxmd.com/read/38694501/zinc-metabolism-and-its-role-in-immunity-status-in-subjects-with-trisomy-21-chromosomal-dosage-effect
#8
JOURNAL ARTICLE
Giuseppe Ramacieri, Chiara Locatelli, Michela Semprini, Maria Chiara Pelleri, Maria Caracausi, Allison Piovesan, Michela Cicilloni, Marco Vigna, Lorenza Vitale, Giacomo Sperti, Luigi Tommaso Corvaglia, Gian Luca Pirazzoli, Pierluigi Strippoli, Francesca Catapano, Beatrice Vione, Francesca Antonaros
INTRODUCTION: Trisomy 21 (T21), which causes Down syndrome (DS), is the most common chromosomal aneuploidy in humankind and includes different clinical comorbidities, among which the alteration of the immune system has a heavy impact on patient's lives. A molecule with an important role in immune response is zinc and it is known that its concentration is significantly lower in children with T21. Different hypotheses were made about this metabolic alteration and one of the reasons might be the overexpression of superoxide dismutase 1 ( SOD1 ) gene, as zinc is part of the SOD1 active enzymatic center...
2024: Frontiers in Immunology
https://read.qxmd.com/read/38692560/modernizing-the-evaluation-of-infantile-nystagmus-the-role-of-handheld-optical-coherence-tomography
#9
JOURNAL ARTICLE
Suzanna Joseph, Rizul Naithani, Samuel Alvarez, Tanya Glaser, Sharon Freedman, Mays El-Dairi
BACKGROUND: Infantile nystagmus syndrome can be associated with an afferent problem (anterior or posterior segment) or constitute an isolated idiopathic disorder. With a normal ophthalmic examination, current guidelines recommend electroretinography (ERG) rather than magnetic resonance (MRI) for preliminary workup. Given the limited use of optical coherence tomography (OCT) in preverbal children, the purpose of this study was to evaluate the role of handheld OCT (HH-OCT) in the initial diagnostic evaluation of infantile nystagmus...
April 29, 2024: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
https://read.qxmd.com/read/38687199/erratum-to-observational-study-to-preliminarily-characterize-the-audiological-profile-of-children-with-down-syndrome
#10
(no author information available yet)
No abstract text is available yet for this article.
April 30, 2024: Journal of Speech, Language, and Hearing Research: JSLHR
https://read.qxmd.com/read/38679764/risk-factors-for-otitis-media-with-effusion-in-preschool-and-school-children-in-calabar-municipality
#11
JOURNAL ARTICLE
A G Adekanye, B C Onwughalu, R B Mgbe, Anu Umana, C O Anisi, A O Somefun
BACKGROUND: Predisposing factors for otitis media with effusion are multifactorial, ranging from genetic and anatomical abnormalities to environmental factors and inflammation of the nose and adjacent structures. AIM: The study determined the risk factors for otitis media with effusion (OME) among children in Calabar Municipality. METHODS: This was a descriptive, cross-sectional, community-based study including children aged 1-10 years randomly selected from government and privately owned daycares, nurseries (preschool), and primary schools...
April 1, 2024: Nigerian Journal of Clinical Practice
https://read.qxmd.com/read/38678514/prescriptions-for-antipsychotics-youth-with-intellectual-developmental-disabilities-compared-to-youth-without-intellectual-developmental-disabilities
#12
JOURNAL ARTICLE
Sandra Marquis, N Esmé Marquis, Yona Lunsky, Kimberlyn M McGrail, Jennifer Baumbusch
PURPOSE: The purpose of this study was to compare antipsychotic use by youth with intellectual/developmental disabilities to youth without IDD as they transitioned from pediatric to adult health care services. In addition, antipsychotic use was compared between youth with different types of IDD (autism, Fetal Alcohol Syndrome, Down syndrome and 'other'). METHODS: Population level administrative health data was used to compare the dispensing of antipsychotics for youth aged 15 to 24 years with and without IDD, between 2010 and 2019...
April 28, 2024: Journal of Autism and Developmental Disorders
https://read.qxmd.com/read/38676421/micro-ct-imaging-of-tracheal-development-in-down-syndrome-and-non-down-syndrome-fetuses
#13
JOURNAL ARTICLE
M Matthijs Fockens, Yousif Dawood, Mika J Zwart, Daniël Docter, Jaco Hagoort, Frederik G Dikkers, Bernadette S de Bakker
OBJECTIVES: Down syndrome (DS) is associated with airway abnormalities including a narrowed trachea. It is uncertain whether this narrowed trachea in DS is a consequence of deviant fetal development or an acquired disorder following endotracheal intubation after birth. This study aimed to compare the tracheal morphology in DS and non-DS fetuses using microfocus computed tomography (micro-CT). METHODS: Twenty fetal samples were obtained from the Dutch Fetal Biobank and divided into groups based on gestational age...
April 27, 2024: Laryngoscope
https://read.qxmd.com/read/38667526/lipid-profile-eating-habit-and-physical-activity-in-children-with-down-syndrome-a-prospective-study
#14
JOURNAL ARTICLE
Luca Pecoraro, Melissa Zadra, Francesco Cavallin, Silvana Lauriola, Giorgio Piacentini, Angelo Pietrobelli
Children with Down Syndrome (DS) frequently undergo health challenges, including a higher prevalence of overweight and obesity. We aimed to evaluate the impact of dietary and physical advice provided by a specialized pediatrician over two years. In this prospective study, 44 children with DS, aged 2 to 17, underwent outpatient follow-up visits every six months between December 2020 and May 2023. Dietary habits, physical activities, anthropometric data, and laboratory results were recorded at baseline and 2-year follow-up...
March 29, 2024: Diseases (Basel)
https://read.qxmd.com/read/38665723/understanding-the-awareness-of-prenatal-genetic-screening-tests-among-pregnant-women-in-india-a-cross-sectional-study
#15
JOURNAL ARTICLE
Sangeetha Arumugam, Sri Sowmya Kalluri, Vijayan Sharmila, Akarsh Mocherla, Nandha Kumar Subbiah, Jyoti P Kulkarni, Joy A Ghoshal
Introduction Genetic disorders pose a significant health challenge in India, with chromosomal abnormalities ranking second only to congenital anomalies in terms of disease burden. Prenatal testing offers a crucial strategy for identifying and managing these disorders. However, the awareness and understanding of prenatal screening tests among pregnant women in India remain understudied. This study aims to fill this gap by investigating the awareness quotient of prenatal screening tests for genetic disorders among pregnant women in India...
March 2024: Curēus
https://read.qxmd.com/read/38664709/outcomes-of-surgical-treatment-of-patellar-instability-in-children-with-down-syndrome
#16
JOURNAL ARTICLE
Assem Zein, Alaa Zenhom Mahmoud Hassan, Amr Mohamed Soliman, Mohamed Mohamed Azmy Mohamed
BACKGROUND: patellar instability is a relatively frequent musculoskeletal disorder in children with Down syndrome (DS). However, such a condition has seldom been studied in the literature, even less its surgical treatment. Different techniques have been offered for this condition; the evidence for surgical options is scarce and primarily based on case reports or case series with few patients and heterogeneous techniques. Given this background, we aimed to evaluate the outcomes of a uniform kind of surgical procedure for such a condition that combined lateral soft tissue release, medial patellofemoral ligament (MPFL) reconstruction (using a partial-thickness quadriceps tendon autograft), the Roux-Goldthwait procedure, and V-Y quadricepsplasty (if needed)...
April 25, 2024: Journal of Orthopaedic Surgery and Research
https://read.qxmd.com/read/38657665/graves-disease-in-children-with-down-syndrome
#17
JOURNAL ARTICLE
Ayse Nurcan Cebeci, Vera Schempp, Katharina Foertsch, Bettina C Gohlke, Michaela Marx, Helmuth-Guenther Dörr, Joachim Woelfle
While subclinical or overt hypothyroidism are common in Down syndrome (DS); Graves´ disease (GD) is rare (ranges 0.6%-3%). We aimed to evaluate the clinical features, course, and treatment of GD in children with DS and compare them with those without DS. Among 161 children with GD, 13 (8 f, 5 m) had DS (8%). Data were collected retrospectively from patients' medical records. The mean age at diagnosis was 10.6 ± 4.5 yrs., with a female-to-male ratio 1.6:1. The main symptoms were weight loss (n=6), increased irritability (n=3), and increased sweating (n=3)...
April 1, 2024: Endocrine Connections
https://read.qxmd.com/read/38654931/endocrine-auxological-and-metabolic-profile-in-children-and-adolescents-with-down-syndrome-from-infancy-to-the-first-steps-into-adult-life
#18
REVIEW
Silvia Molinari, Chiara Fossati, Maria Laura Nicolosi, Santo Di Marco, Martha Caterina Faraguna, Francesca Limido, Laura Ocello, Claudia Pellegrinelli, Martina Lattuada, Alessandra Gazzarri, Alessandra Lazzerotti, Debora Sala, Chiara Vimercati, Giulia Capitoli, Cecilia Daolio, Andrea Biondi, Adriana Balduzzi, Alessandro Cattoni
Down syndrome (DS) is the most common chromosomal disorder worldwide. Along with intellectual disability, endocrine disorders represent a remarkable share of the morbidities experienced by children, adolescents and young adults with DS. Auxological parameters are plotted on syndrome-specific charts, as growth rates are reduced compared to healthy age- and gender-matched peers. Furthermore, children with DS are at increased risk for thyroid dysfunctions, diabetes mellitus, osteopenia and obesity compared to general population...
2024: Frontiers in Endocrinology
https://read.qxmd.com/read/38653555/positive-airway-pressure-and-metabolic-markers-in-children-with-obstructive-sleep-apnea
#19
REVIEW
Christopher A Gerdung, Daniel B Ofosu, Sara Rodriguez-Lopez, Stefan Palkowski, Diana Keto-Lambert, Meng Lin, Maria L Castro-Codesal
BACKGROUND: Increasing evidence suggests an association between childhood obstructive sleep apnea (OSA) and metabolic syndrome, with more research available on the potential impacts of positive airway pressure (PAP) on metabolic markers in children. The purpose of this systematic review is to provide a systematic synthesis of the evidence on the effect of PAP use on metabolic markers in children with OSA. METHODS: A search strategy with terms for "OSA" and metabolic markers in pediatrics was run to systematically assess 5 databases until August 26, 2022...
April 23, 2024: Respiratory Care
https://read.qxmd.com/read/38652972/psychological-wellbeing-in-parents-of-children-with-down-syndrome-a-systematic-review-and-meta-analysis
#20
REVIEW
T L Rutter, R P Hastings, C A Murray, N Enoch, S Johnson, C Stinton
We report a review examining the psychological wellbeing of parents of children with Down syndrome (DS) relative to that of parents of typically developing (TD) children. A systematic search identified 57 relevant studies, which were synthesised meta-analytically. Relative to their counterparts with TD children, mothers and fathers of children with DS reported higher levels of parenting stress (mothers: g = 0.57, 95% CI [0.33, 0.81]; fathers: g = 0.40, [0.24, 0.56]), depressive symptoms (mothers: g = 0...
April 6, 2024: Clinical Psychology Review
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