"Down syndrome" child*

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...

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...

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...

BACKGROUND: Punctal atresia or agenesis (PA) is a rare congenital anomaly characterized by the absence or closure of the tear duct puncta, potentially linked to systemic genetic anomalies. The necessity of a genetic workup based solely on the presence of PA remains uncertain. This study investigates a cohort of PA patients, examining the prevalence and types of associated syndromes. METHODS: A retrospective medical records review of all patients diagnosed with PA at the Children's Hospital of Philadelphia between 2009-2023 was conducted, analyzing medical histories and genetic testing results...

BACKGROUND: Children with Down syndrome (DS) demonstrate poorer performance in locomotor and ball skills than children with typical development. During motor assessment, keeping children's attention and motivation is challenging, especially for children with DS, which may affect the test outcomes. This study aimed first to examine the impact of examiner and App-animation demonstrations during the assessment on the performance of fundamental motor skills, focus of attention and intrinsic motivation for children with DS and neurotypical development (NTD)...

Caregiver feeding practices during the complementary feeding period (6 months to 2 years) may be particularly important for infants with Down syndrome (DS) as they are at higher risk for later health conditions (e.g., obesity, diabetes) that can be influenced by early feeding practices. However, how well caregivers of infants with DS are meeting infant feeding evidence-based practices is relatively unknown. Caregivers of infants with DS (N = 75) and caregivers of typically developing (TD) infants (N = 66) aged 0 to 2 years completed an online survey about their infant feeding practices and information sources...

BACKGROUND: Cytogenetics and association studies showed that folate gene polymorphisms can increase the risk of chromosomal nondisjunction and aneuploidies. The folate-metabolizing gene polymorphisms in Down syndrome mothers (DSM) have been assessed in a variety of populations. Reduced folate carrier 1 ( RFC1 ) and cystathionine beta-synthase ( CBS ) are key enzymes in folate metabolism. OBJECTIVE: 2 common polymorphisms, CBS 844ins68 and RFC1 A80G, were analyzed to determine their probable risk for having Down syndrome (DS) babies in young mothers of Khuzestan province, Iran...

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PURPOSE: Dyadic caregiver-child interactions are commonly used to examine children's language learning environments. However, children frequently interact with multiple caregivers and/or siblings if they come from homes with multiple caregivers and siblings. Thus, we examined if and how caregiver opportunities to respond (OTRs) varied when sampled across three interaction configurations. METHOD: Twelve children with Down syndrome ( M age = 40.82 months) and their biological parents participated in the current study...

A 2003 survey revealed the scope of mothers' dissatisfaction with their postnatal support following a diagnosis of Down syndrome (DS). Substantial proportions of mothers reported that providers conveyed diagnoses with pity, emphasized negative aspects of DS, and neglected to provide adequate materials explaining DS. This study follows up on the 2003 survey by assessing whether parents' experiences have improved. Four DS nonprofit organizations, which participated in the original study, distributed a mixed-methods survey to families who have had children with DS between 2003 and 2022...

OBJECTIVES: Two studies were conducted to better understand how children with intellectual disabilities (ID) empathize with the feelings of others during social interactions. The first study tested hypotheses of developmental delay or difference regarding empathy in 79 children with ID by comparing them with typically developing (TD) children, matched for developmental age or chronological age. The second study examined specific aspects of empathy in 23 children with Down syndrome (DS), compared with 23 nonspecific ID children, matched for developmental age, and TD children, matched for developmental age or chronological age...

PURPOSE: Adolescents and adults with Down syndrome are noted to display symptoms and behaviors consistent with a diagnosis of Obsessive Compulsive Disorder. While evidenced-based interventions, including psychopharmacology and therapeutic interventions including exposure and response prevention, exist and effectively treat obsessive-compulsive symptoms in neurotypical populations, less is known about effective treatments for similar presentations in persons with Down syndrome. METHODS: A scoping rapid review was conducted in April 2023 to determine what treatments are being used to target obsessive-compulsive symptoms and related behaviors in adolescents and adults with Down syndrome, the quality of those treatments, and their alignment with current evidenced-based interventions...

Obstructive sleep apnea (OSA) is common in children with Down syndrome (DS). Adenoidectomy and/or tonsillectomy are the usual first interventions employed to treat OSA in children with DS but sometimes do not achieve adequate resolution of clinical signs. Positive airway pressure treatment is often used next, but this treatment is poorly tolerated by this population. Persistent OSA can adversely affect a child's health and cognitive development. Hypoglossal nerve stimulation (HGNS), previously shown to be safe and effective in adults with OSA, has been used in children as young as 10 years old with DS and has achieved measurable neurocognitive benefits...

BACKGROUND: Children with DS are at higher risk of developing congenital anomalies, particularly cardiac anomalies. METHODS: Medical records of 502 DS patients were reviewed. The logistic regression analyses were performed to determine independent predictors. RESULTS: Of the total 502 study subjects, 53.4% were males. Only 1.4% of the DS case diagnosis were confirmed by karyotyping. All cases were diagnosed postnatally. The median age at DS diagnosis was 5 months...

The genetics of Down syndrome (DS) and Klinefelter syndrome (KS) are a nondisjunction of autosomal and sex chromosomes, respectively, resulting in aneuploidies. Less than 70 cases of concurrent Down-Klinefelter syndrome (DS-KS) have been reported in the literature. We report the case of a five-month-old Indian child with a rare double aneuploidy resulting in DS-KS. A five-month-old boy born to non-consanguineously married parents presented with failure to thrive and dysmorphic facies. The family history was unremarkable...

BACKGROUND: This study aims to thoroughly study the connection between congenital heart disease (CHD) and neurodevelopmental disorders (NDDs) through observational and Mendelian randomization (MR) designs. METHODS: This observational study uses data from the National Survey of Children's Health (2020-2021). Multivariable logistic regression and propensity score matching (PSM) were performed to analyze the association. PSM was used to minimize bias for covariates such as age, race, gender, maternal age, birth weight, concussion or brain injury, preterm birth, cerebral palsy, Down syndrome, and other inherited conditions...

OBJECTIVE: This study aimed to assess parental perceptions of morbidity and certain functional abilities in people with Down syndrome (DS) and their variability according to age and sex in Morocco. MATERIAL AND METHODS: A retrospective and analytical survey was conducted between May 2014 and November 2017, and addressed to the parents of 279 individuals with DS, including 161 boys (57.7%) aged 1-40 years. The sample was subdivised to tree age groups, children under 10 years old, adolescents aged 10-18 years and adults aged ≥ 18 years...

Aerococcus urinae  ( A. urinae ) infection, primarily observed in elderly patients, is a rare yet emerging occurrence in the pediatric population. Advances in laboratory techniques have facilitated the increased identification of these bacteria in human infections. There have been only a few recent cases reported among children. The scarcity of literature on the clinical presentation and management of such infections in children presents a challenge for pediatricians. Here, we present the case of a 15-month-old male child with Down syndrome who presented with malodorous urine but lacked other typical symptoms of urinary tract infection...

OBJECTIVE: In this study, we present the results of bio-demographic characteristics of households and associated factors with Down syndrome (DS) birth in Morocco. METHODS: We conducted a retrospective survey between 2014 and 2017 addressed to 277 families with 925 siblings and at least one child with DS (279 with DS). The data are collected using a standardized questionnaire in Marrakech-Safi region. Data were entered and analyzed using the statistical program SPSS statistics software for Windows (version 20...

OBJECTIVE: Neurocognitive deficits in attention, short-term memory, and sequential information processing are present in children with a variety of disabilities, whereas language and visuospatial abilities vary. METHOD: We compared the performance of 59 children (mean age, 15 years) with learning disabilities (n = 18), Down syndrome (n = 21), and intellectual disabilities (n = 20). A series of neuropsychological tests were used to evaluate the neurocognitive processes of memory, attention, visuospatial perception, and executive function...