Search

A recent study conducted at the Children's Hospital of Chongqing Medical University in China focused on Prader-Willi Syndrome (PWS), a neurodevelopmental disorder. The research examined brain structural-functional coupling and network topology in children with PWS, finding decreased coupling and alterations in network properties compared to healthy controls. These findings may help understand early neurodevelopmental delays in PWS and could potentially serve as markers for assessing developmental delays in the syndrome. The study was peer-reviewed and provides valuable insights into the neurological aspects of PWS. [Extracted from the article]

A recent study conducted by the University of Milano Bicocca in Italy focused on establishing reference ranges for complete blood count (CBC) parameters in children and adolescents with Down syndrome. The research analyzed CBC results from 481 patients aged 31 days to 18 years, excluding those with significant comorbidities to ensure a homogeneous group. The study found significant differences in CBC parameters such as hemoglobin, hematocrit, and mean corpuscular volume compared to the general pediatric population, highlighting the importance of tailored clinical assessment for individuals with Down syndrome. The newly established Down syndrome-specific reference ranges aim to assist clinicians in interpreting CBC results accurately and potentially reducing unnecessary tests. [Extracted from the article]

A study conducted at Mansoura University in Egypt explored the association between the FTO gene polymorphism and obesity in children with Down syndrome (DS). The research found that children with DS have a higher incidence of overweight and obesity compared to typically developing peers, and identified the FTO rs17817449 gene polymorphism as a potential risk factor for obesity in DS children. The study concluded that the FTO rs17817449 TT genotype and T allele were independent risk factors for overweight and obesity development in DS children, suggesting their potential use for obesity prediction in this population. [Extracted from the article]

A recent study conducted at Bambino Gesu Children's Hospital in Rome, Italy, focused on the adaptive and behavioral profiles of individuals with Down Syndrome (DS) and co-occurring Autism Spectrum Disorder (ASD). The research found that children with both DS and ASD exhibited lower adaptive skills compared to those with DS only, despite similar cognitive functioning levels. While common behavioral traits were observed in children with DS, elevated stereotyped behaviors and restricted interests were more indicative of co-occurring ASD. The study emphasizes the importance of early interventions to enhance daily living skills in this population. [Extracted from the article]

A study conducted in Santiago, Chile, compared early caregiver-child interaction patterns in infants and toddlers with Down syndrome versus typical development. The research found that interactions with children with Down syndrome exhibited lower sensitivity, greater directiveness, and less mutuality and engagement. Gender-based differences were also observed, with parents being more sensitive and less directive with girls with Down syndrome. The study suggests that these findings have implications for clinical work and future research should explore the impact of the child's gender on interactions. [Extracted from the article]

A study conducted at the University of Bari A. Moro in Italy examined the correlation between asprosin serum levels and hyperphagic behavior in individuals with Prader-Willi Syndrome (PWS). The research found no significant correlations between asprosin levels and cardiometabolic risk factors in the cohort, but higher levels of asprosin were observed in adults with obesity compared to those with normal weight. The study highlighted the importance of early prevention of obesity in individuals with PWS, as lower levels of hyperphagia, BMI-SDS, and metabolic variables were observed in children compared to adults. [Extracted from the article]

A recent study conducted at University Hospital Toulouse in France focused on cardiovascular autonomic dysfunction and sleep abnormalities in children with Prader-Willi Syndrome (PWS). The research found that children with PWS exhibited impaired heart rate variability during sleep stages, as well as autonomic testing showing changes in heart rate with active standing and deep breathing. The study concluded that these findings may contribute to the increased cardiovascular risk in individuals with PWS. For more information, readers can refer to the original article published in Clinical Autonomic Research. [Extracted from the article]

A recent study conducted at the University of California Irvine explored how mothers manage uncertainty following the diagnosis of Down syndrome in their child. The research identified sources of uncertainty, such as navigating communication with healthcare providers and adjusting family expectations, as well as tools used to manage uncertainty, including seeking information and building support networks. The findings suggest implications for healthcare providers in effectively communicating Down syndrome diagnoses to families to reduce uncertainty and provide support. [Extracted from the article]

A recent study conducted at Case Western Reserve University examined the impact of age on outcomes of congenital nasolacrimal duct obstruction probing and stent intubation in pediatric patients with Down syndrome. The research found that there was no significant difference in symptom resolution and reoperation rates between patients under 3 years old and those over 3 years old. The study suggests that intervention at later ages may still be beneficial for symptom resolution in patients with Down syndrome. [Extracted from the article]

Researchers at Eastern Virginia Medical School have developed a standardized titration protocol for Upper Airway Stimulation (UAS) in pediatric patients with Down syndrome to treat obstructive sleep apnea. The protocol involves conducting post-implantation polysomnograms at specific intervals to optimize outcomes. The study included 5 pediatric patients with Down syndrome who showed a reduction in apnea-hypopnea index (AHI) and tolerated the UAS device well. The research suggests that this protocol can serve as a model for other institutions treating pediatric patients with Down syndrome using UAS devices. [Extracted from the article]

A report from Boston Children's Hospital discusses the development, education, and services provided to children with Down syndrome. The study analyzed data from 814 patients seen at a specialized Down Syndrome Program, revealing delays in various developmental domains, with language, communication, and academic skills being particularly affected. The research highlights the importance of tailoring supports based on individual needs and developmental levels to address gaps in therapies and educational services for individuals with Down syndrome. This study may inform policy changes related to developmental and educational services for this population. [Extracted from the article]

A report from the Lithuanian University of Health Sciences explores sleep-related breathing disorders in pediatric obesity and Prader-Willi Syndrome (PWS). The study compared clinical and diagnostic features of sleep-related breathing disorders between children with PWS and obese children, finding that both groups are at significant risk. While obstructive sleep apnea was more common in non-PWS obese children, central sleep apnea and sleep-related hypoventilation were more prevalent in children with PWS. Both patient groups are advised to undergo polysomnography due to the risk of sleep-related breathing disorders, particularly during adolescence. [Extracted from the article]

A recent study conducted by the University of Rosario in Bogota, Colombia, focused on assessing the quality of life in children and adolescents with Down syndrome. The research aimed to identify instruments used for this purpose and evaluate their psychometric properties. The study found that there is limited information available on the psychometric properties of instruments used to assess quality of life in this population, with commonly employed instruments including PedsQL 4.0 and KIDSCREEN. The researchers concluded that further evaluation of these instruments or the development of new ones tailored for children with Down syndrome is necessary to comprehensively assess quality of life in clinical settings. [Extracted from the article]

A study conducted by the University College London (UCL) Great Ormond Street Institute of Child Health examined hospital-recorded chronic health conditions in children with and without Down syndrome in England. The research found that children with Down syndrome had a significantly higher cumulative incidence of chronic health conditions, multimorbidity, and mortality compared to children without Down syndrome. The most common chronic health conditions in children with Down syndrome were severe congenital heart defects. The study concluded that administrative data can be utilized to assess the healthcare needs of children with Down syndrome throughout childhood and adolescence. [Extracted from the article]

Researchers at Boston Children's Hospital have developed a longitudinal clinical database for Down Syndrome, aiming to better understand the medical, developmental, and behavioral aspects of the condition. The database collected data from 842 patients between March 2018 and November 2021, highlighting challenges such as caregiver form completion and resource requirements. The study concluded that the database enables the identification of developmental patterns and health trends, facilitating future research and care advancements for individuals with Down Syndrome. [Extracted from the article]

A study conducted at the University of Edinburgh explored the friendships of children with Williams Syndrome (WS). Parents reported that their children with WS often faced challenges in sustaining friendships due to difficulties with play and self-regulating behavior. Despite these obstacles, most children with WS named at least one friend and did not feel excluded by their peers. The research suggests the need for further investigation into how to best support children with WS in developing and maintaining friendships. [Extracted from the article]

A study conducted by Yonsei University Graduate School in Seoul, South Korea, focused on assessing the physical activity levels of children and adolescents with Down syndrome using a Fitbit and parental proxy questionnaire. The research found that sedentary time was higher for adolescents with Down syndrome, while light physical activity time was lower. The study highlighted the importance of tailored programs to increase physical activity levels during weekends for this population. The use of commercial activity trackers like Fitbit was deemed effective for monitoring physical activity levels in clinical settings. [Extracted from the article]

The article discusses how triplication of the DYRK1A kinase gene is a major cause of Otitis Media in individuals with Down Syndrome. Researchers used mouse models to identify the specific gene locus involved in Otitis Media and found that normalizing the gene dosage of DYRK1A could restore the wild-type phenotype. The study suggests that DYRK1A could be a potential therapeutic target for Otitis Media in children with Down Syndrome. [Extracted from the article]

A study conducted at the University of Wisconsin Madison explored the complexity of opportunities to respond (OTR) used by mothers and fathers of children with Down syndrome during caregiver-child interactions. The research found that there were no differences in the frequency of OTRs between mothers and fathers during dyadic interactions, but caregivers produced fewer OTRs during family choice interactions. This study was funded by the Eunice Kennedy Shriver National Institute of Child Health & Human Development and the Vilas life cycle award at the University of Wisconsin-Madison. The findings were published in the Journal of Child Language and can be accessed online. [Extracted from the article]

A study conducted in northern China examined the sleep problems of school-aged children with Down syndrome (DS). The study found that 62% of children with DS slept less than 10 hours per night, and the total prevalence rate of sleep problems among these children was 69.8%. The most commonly reported sleep problems were sleep-disordered breathing, sleep duration, and bedtime resistance. Younger children with DS had more severe problems with bedtime resistance, sleep anxiety, and parasomnias compared to older children. The researchers concluded that sleep problems in children with DS should be addressed early on through targeted interventions. [Extracted from the article]

A recent study conducted by Zhejiang University School of Medicine in China examined the effectiveness of growth hormone therapy in children with Prader-Willi syndrome (PWS). The study analyzed 146 Chinese children with PWS and found that growth hormone therapy increased height/length standard deviation scores (SDS) in all children. The study also found that the impact of growth hormone therapy was similar in children with different PWS genotypes, but the deletion group was more prone to insulin resistance compared to the maternal uniparental diploidy (mUPD) group. Overall, the study suggests that children with the mUPD genotype may experience enhanced therapeutic effects from growth hormone therapy in managing PWS. [Extracted from the article]

A recent study conducted by the University of Deusto in Bilbao, Spain, compared the ability to recognize emotional facial expressions among different subtypes of Prader-Willi syndrome (PWS) and a control group. The study found that children with PWS had difficulty recognizing facial emotions compared to the control group, regardless of genetic subtype. Additionally, children with the maternal uniparental disomy (mUPD) subtype of PWS showed longer reaction times in recognizing emotional facial expressions in contextualized situations, suggesting similarities to autism spectrum disorder. This research provides valuable insights into the social cognitive deficits associated with PWS. [Extracted from the article]

A recent study conducted by Showa University in Tokyo, Japan, explored the perceptions of parents regarding the oral health of children with Down syndrome (DS). The study found that 43% of parents rated their child's oral health as good, while 81% rated their general health as good. Parent-rated oral health was strongly associated with general health, satisfaction with the child's dentist, halitosis, difficulty in dental examination, and the frequency of toothbrushing. The study concluded that general health, a trusting relationship with the dentist, and parental perceptions of oral hygiene significantly impact the parent-rated oral health of children with DS. [Extracted from the article]

A recent study conducted by Wroclaw Medical University in Poland examined the quality of life and impact on family functioning for children with Rubinstein-Taybi Syndrome (RSTS). RSTS is a rare genetic disorder characterized by distinctive clinical features such as craniofacial abnormalities, developmental delay, intellectual disability, and unique hand features. The study found that children with RSTS had lower quality of life scores in physical and social functioning, with older children experiencing lower quality of life overall. The research provides valuable insights into the experiences of individuals with RSTS and their families. [Extracted from the article]

A study conducted at Ziauddin University in Karachi, Pakistan, investigated the effectiveness of Simulated Equestrian Therapy (SET) and Neuro-Motor Therapy (NMT) in improving motor proficiency among children with Down syndrome. The study enrolled 56 participants with Down syndrome, randomly assigning them to either the SET or NMT group. The results showed significant improvements in motor proficiency after 12 weeks of intervention for both groups. However, the researchers suggest that further studies with longer follow-up periods should be conducted to evaluate the long-term benefits of these therapies. [Extracted from the article]

A recent report from Tehran University of Medical Sciences discusses a case of isolated pulmonary valve endocarditis (IPE) in a pediatric patient with Down syndrome. IPE is a rare condition, typically associated with intravenous drug use or congenital heart disease. However, this patient had no standard risk factors and was infected with the rare pathogen Acinetobacter spp. The patient's condition worsened despite medical therapy, leading to the decision for early surgical intervention and pulmonary valve replacement. The report emphasizes the diagnostic and therapeutic challenges of IPE and highlights the need for guidelines on surgery in pediatric patients with complicated IPE. [Extracted from the article]

A recent study conducted by Jichi Medical University in Tochigi, Japan, compared the developmental process of understanding linguistic register in typically developing children, autistic children, and children with Williams syndrome (WS). The study found that all groups of children showed similar understanding of register-listener associations, which improved with age. However, typically developing children demonstrated a greater awareness of the effect of register selection on the listener's feelings compared to autistic children and those with WS. The study suggests that social cognition and motivation play important roles in understanding the impact of register selection on the listener's emotions. This research provides valuable insights into the mechanism of linguistic register acquisition. [Extracted from the article]

A study conducted at University College Cork in Ireland explored the feasibility of an online language program delivered through music for young children with Down syndrome. The study compared the effectiveness of two intervention dose frequencies and found that there was no additional benefit to receiving a higher dose. However, the efficacy of the high-dose intervention was higher in participants with higher baseline language performance. Overall, parents perceived the intervention to be effective and positive for their families. This research provides insights into online interventions for children with Down syndrome and suggests that a critical minimum language level is required for optimal benefit from a higher intervention dose frequency. [Extracted from the article]

A recent study conducted at the University of Colorado examined the long-term outcomes of tonsillectomy for children with Down syndrome (DS) who have obstructive sleep apnea (OSA). The study found that children with DS who have mild OSA following a tonsillectomy are at risk of progressing to at least moderate OSA within two years after the surgery. The researchers recommend a surveillance polysomnogram (PSG) two years after the surgery to identify these children. This study provides valuable information for healthcare professionals treating children with DS and OSA. [Extracted from the article]

A recent study conducted by the University of Toronto found that 14 and 6 Hz like spike wave activity is a common finding in young patients with Prader-Willi syndrome (PWS). The researchers reviewed electroencephalograms (EEGs) of children with PWS and healthy controls who underwent diagnostic polysomnograms. They found that the prevalence of the EEG variant was 51% in children with PWS, compared to 0% in healthy children. The study did not find a correlation between the EEG variant and sleep-disordered breathing indices in children with PWS, and the clinical significance of the variant remains unknown. [Extracted from the article]

A systematic review and meta-analysis conducted by researchers at the King Faisal Specialist Hospital and Research Center in Riyadh, Saudi Arabia, aimed to evaluate the pain management and sedation requirements of post-surgical children with Down syndrome (DS) compared to those without DS. The study included ten studies with a total of 730 patients, and the analysis consisted of seven studies with 533 patients. The findings showed that patients with DS did not require more sedation or analgesia in the first three days after surgery compared to patients without DS. Additionally, there was no significant difference in the duration of mechanical ventilation between the two groups. [Extracted from the article]

A recent report from University Hospital Toulouse in France discusses the findings of a study on Prader-Willi Syndrome (PWS). The researchers focused on the role of acylated and unacylated ghrelin levels in the switch from failure to thrive to excessive weight gain and hyperphagia in children with PWS. The study found that the ratio between acylated and unacylated ghrelin (AG/UAG ratio) was lower in the early years of life in children with PWS compared to healthy controls, but started to increase from the age of 3 years. This increase in the AG/UAG ratio coincided with the onset of hyperphagia. The study suggests that longitudinal changes in ghrelin levels may be involved in the underlying mechanisms of the switch in nutritional phases in PWS. [Extracted from the article]

A recent study conducted by researchers at the University of Kentucky examined the impact of genetic counselor adherence to recommendations for communicating a prenatal diagnosis of Down syndrome (DS). The study surveyed parents of children with DS to assess their experiences with genetic counselors and the support and information provided. The results showed that higher adherence to the recommendations was associated with more positive sentiment scores from parents, suggesting that adherence to these guidelines may improve the prenatal diagnosis experiences of parents and counseling outcomes. This research has been peer-reviewed and provides valuable insights into improving the communication of DS diagnoses. [Extracted from the article]

A recent study conducted at the Children's Hospital at Westmead in Australia examined the outcomes of growth hormone (GH) treatment in children with Prader-Willi syndrome (PWS) over a 30-year period. The study found that GH treatment in PWS patients resulted in significant improvements in growth and body composition compared to those who were not treated with GH. The study also confirmed the high prevalence of scoliosis in GH-treated children with PWS, emphasizing the importance of close surveillance for this condition. The research provides valuable insights into the benefits and potential risks of GH treatment in PWS patients. [Extracted from the article]

A recent study conducted at Bambino Gesu Children's Hospital in Rome, Italy, aimed to characterize repetitive behaviors in children and adolescents with Down syndrome (DS). The study included 151 participants aged 4 to 18 years with DS and assessed repetitive behaviors using the Repetitive Behavior Scale-Revised. The findings revealed that individuals with DS commonly exhibited behaviors associated with the need for sameness and ritualistic behaviors, while self-injurious behaviors were less frequent. The study also found associations between repetitive behaviors and sleep difficulties, internalizing and externalizing problems, IQ, adaptive skills, and linguistic abilities. The researchers concluded that a comprehensive evaluation of repetitive behaviors should be included in psychological and neuropsychiatric assessments for young people with DS. [Extracted from the article]

A recent study conducted at the University of Wisconsin-Madison explored the language learning environments of children with Down syndrome. The researchers examined the opportunities for caregivers to respond to the children during different types of interactions, including dyadic caregiver-child interactions and naturalistic family interactions. The findings revealed that children with Down syndrome were exposed to fewer opportunities for caregiver response during family choice interactions compared to dyadic interactions. These preliminary findings emphasize the importance of understanding how caregivers support language development in children with Down syndrome. The study has been peer-reviewed and published in the American Journal of Speech-Language Pathology. [Extracted from the article]

A recent study conducted by researchers at the University of California Irvine examined the reflections of mothers of children with Down syndrome on the timing of their child's diagnosis and birth. The study found that mothers who received a prenatal diagnosis of Down syndrome had more positive reflections on their child's birth compared to those who received a postnatal diagnosis. These differences were evident in participant ratings, emotion language used, and feeling states. The researchers suggest that medical professionals should consider the conditions under which they provide diagnostic information and support services to mothers after a child is born. [Extracted from the article]

A recent report from Boston Children's Hospital discusses the potential benefits of the Joint Attention, Symbolic Play, Engagement and Regulation (JASPER) intervention for children with Down syndrome (DS). The study aimed to describe the behavioral characteristics of children with DS, measure changes in child engagement after receiving JASPER, assess caregiver adoption of JASPER strategies, and generate hypotheses for future research. The pilot study involved 16 toddlers with DS and their caregivers, who were randomly assigned to either immediate intervention or a waitlist control group. The findings suggest that JASPER may improve joint engagement and emotion regulation in young children with DS, and remote delivery of the intervention may enhance participant retention. The research has been peer-reviewed. [Extracted from the article]

A recent study conducted by the University of Alabama Birmingham explores the motivations and methods behind sharing a diagnosis of Prader-Willi Syndrome (PWS) with affected children. PWS is a genetic condition characterized by hyperphagia, behavioral challenges, and variable intellectual disability. The study found that parents and guardians were more likely to disclose the diagnosis if they had a higher level of knowledge about PWS and if their child was older or had at least one sibling. The research provides valuable insights for others considering disclosure of PWS or another rare diagnosis with their child. [Extracted from the article]

A recent study conducted at Children's Mercy Kansas City in Missouri investigated the frequency and consequences of premature pubarche (PP) in children with Prader-Willi Syndrome (PWS). The study included 43 children with PWS, 23 of whom had PP and 20 who had normal pubarche (NP). The researchers found that PP is common in PWS but does not affect final height. Contrary to previous findings in obese children without PWS, obesity and insulin resistance were not associated with PP in children with PWS. [Extracted from the article]

A recent report from University Hospital Essen in Germany discusses the challenges of treating relapsed or refractory myeloid leukemia in children with Down syndrome. The report provides treatment recommendations based on a literature review and expert opinions, aiming to improve survival rates. Treatment options include various medications and hematopoietic stem cell transplantation. The researchers emphasize the need for further research on targeted therapies. This research has been peer-reviewed and published in the journal Pediatric Blood & Cancer. [Extracted from the article]

A study conducted in Marseille, France, examined the recurrence of anterior congenital diaphragmatic hernia (CDH) after laparoscopic repair in children, with a specific focus on those with Down syndrome. The study found that laparoscopic repair without a patch was a safe and effective surgical approach for children with anterior CDH. However, the recurrence rate was higher in patients with Down syndrome and when absorbable sutures were used. The researchers recommend considering the use of a non-absorbable prosthetic patch in cases involving Down syndrome or previous cardiac surgery. [Extracted from the article]

A study conducted by Fuller Theology Seminary explores the experiences of parents raising children with Down Syndrome (DS). The research highlights the unique challenges faced by these parents, including increased stress levels, psychological distress, and the need for additional resources. The study emphasizes the importance of providing appropriate therapy and support for couples and families navigating life with DS. The research has been peer-reviewed and offers valuable insights for therapists working with families affected by DS. [Extracted from the article]

New research from the University of Kansas Medical Center explores the use of hearing tests to assess otitis media with effusion (OME) in children with Down syndrome. OME is a childhood condition characterized by fluid accumulation in the middle ear, which can lead to hearing loss. The study found that while most diagnoses of OME occurred in otolaryngology clinics, a higher proportion of hearing testing at the time of diagnosis occurred in Down syndrome clinics. The research highlights the importance of early diagnosis of hearing loss in children with Down syndrome and timely referrals to otolaryngology clinics for management of OME. [Extracted from the article]

A recent study conducted at the University of Louisville in Kentucky examined the outcomes of tonsillectomy and adenoidectomy (T&A) in children with Down Syndrome (DS) and obstructive sleep apnea (OSA). The study found that there was a statistically significant improvement in certain sleep apnea measures after the surgery, but about half of the children with DS still had moderate to severe OSA. The study also compared the results of DS children to a group of non-DS children and found no significant differences in sleep measures between the two groups. This research provides valuable insights into the effectiveness of T&A in children with DS and OSA. [Extracted from the article]

A recent report from the Universidad de Alcala in Spain explores the topic of caregiving for disabled individuals among Neanderthals. The researchers present the case of a Neanderthal child with Down syndrome and a congenital inner ear pathology, suggesting that this child would have required care for at least 6 years. The study raises questions about the nature of caregiving in Neanderthal societies and whether it was driven by reciprocal assistance or compassion. Further research is needed to fully understand the implications of these findings. [Extracted from the article]