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Brain Sciences May 2024: People with Down syndrome (DS) are deficient in verbal memory but relatively preserved in visuospatial perception. Verbal memories are related to semantic knowledge....
: People with Down syndrome (DS) are deficient in verbal memory but relatively preserved in visuospatial perception. Verbal memories are related to semantic knowledge. Receptive ability is better than expressive ability in people with DS but still seriously lags behind their age-matched controls. This lag may result in the weak semantic integration of people with DS. : This study aimed to examine the ability of semantic integration of people with DS by using false-memory tasks. Possible differences in the number of false memories induced by nouns and verbs were of focus. Two phases were involved in the false-memory task. In the study phase, ten-word lists with semantically related associates were presented. In the recognition phase, judgments were to be made about whether the words presented had been heard before. Three types of words were tested: previously presented associates, semantically related lures, and semantically unrelated new words. : People with DS overall showed the lowest accuracy among groups in response to tested word types. In the processing of lures, people with DS were worse in recognition than MA controls. In processing unrelated words, people with DS responded least accurately to all types of words compared to control groups. In the processing of associates, people with DS showed similar recognition rates as the MA controls but were less accurate than the CA controls. No difference was observed between nouns and verbs in recognizing word types among groups, though faster responses to nouns than to verbs emerged in college students. Further analyses on topic-wised comparisons of errors across syntactic categories revealed differences in specific concepts among groups, suggesting people with DS were atypical in semantic organization. : People with DS showed mixed patterns in semantic integration by false-memory tasks with delay to associates and deviance to lures together with unrelated words. People with DS showed distinct patterns in processing nouns and verbs while conducting topic-wise comparisons, suggesting that they formed false memories differently based on distinct syntactic categories. We concluded that people with DS develop a deviant semantic structure, hence showing problems in language and social cognition. Category-based rehabilitation is suggested to be implemented for people with DS to improve their semantic knowledge through lexical connections.
PubMed: 38928536
DOI: 10.3390/brainsci14060538 -
Zhongguo Shi Yan Xue Ye Xue Za Zhi Jun 2024To screen interleukin (IL)-1β secretion-related membrane transporters by macrophage experiment and conventional knockout mice.
OBJECTIVE
To screen interleukin (IL)-1β secretion-related membrane transporters by macrophage experiment and conventional knockout mice.
METHODS
THP-1 cell line was differentiated to obtain human THP-1-derived macrophages, and the primary macrophages were obtained from human peripheral blood. wild-type mice with the same sex and age were used as the controls of knockout mice. The macrophages in abdominal cavity and bone marrow of mice were cultivated. The cells were treated with ABCC1/MRP1, ABCG2/BCRP, ABCB1/P-gp, OATP1B1, and MATE transporter inhibitors, then stimulated by lipopolysaccharide and adenosine triphosphate. The secretion level of IL-1β was detected by ELISA, Western blot, and immunofluorescence.
RESULTS
After inhibiting ABCC1/MRP1 transporter, the secretion of IL-1β decreased significantly, while inhibition of the other 4 transporters had no effect. In animal experiment, the level of IL-1β secreted by macrophages in bone marrow of knockout mice was significantly lower than control group ( < 0.05).
CONCLUSION
ABCC1/MRP1 transporter is a newly discovered IL-1β secretion pathway, which is expected to become a new target for solving clinical problems such as cytokine release syndrome.
Topics: Interleukin-1beta; Mice; Animals; Humans; Multidrug Resistance-Associated Proteins; Mice, Knockout; Macrophages; Down-Regulation; THP-1 Cells; Lipopolysaccharides
PubMed: 38926988
DOI: 10.19746/j.cnki.issn.1009-2137.2024.03.040 -
BMC Public Health Jun 2024People with serious mental illness (SMI) and people with intellectual disabilities/developmental disabilities (ID/DD) are at higher risk for COVID-19 and more severe... (Randomized Controlled Trial)
Randomized Controlled Trial Comparative Study
BACKGROUND
People with serious mental illness (SMI) and people with intellectual disabilities/developmental disabilities (ID/DD) are at higher risk for COVID-19 and more severe outcomes. We compare a tailored versus general best practice COVID-19 prevention program in group homes (GHs) for people with SMI or ID/DD in Massachusetts (MA).
METHODS
A hybrid effectiveness-implementation cluster randomized control trial compared a four-component implementation strategy (Tailored Best Practices: TBP) to dissemination of standard prevention guidelines (General Best-Practices: GBP) in GHs across six MA behavioral health agencies. GBP consisted of standard best practices for preventing COVID-19. TBP included GBP plus four components including: (1) trusted-messenger peer testimonials on benefits of vaccination; (2) motivational interviewing; (3) interactive education on preventive practices; and (4) fidelity feedback dashboards for GHs. Primary implementation outcomes were full COVID-19 vaccination rates (baseline: 1/1/2021-3/31/2021) and fidelity scores (baseline: 5/1/21-7/30/21), at 3-month intervals to 15-month follow-up until October 2022. The primary effectiveness outcome was COVID-19 infection (baseline: 1/1/2021-3/31/2021), measured every 3 months to 15-month follow-up. Cumulative incidence of vaccinations were estimated using Kaplan-Meier curves. Cox frailty models evaluate differences in vaccination uptake and secondary outcomes. Linear mixed models (LMMs) and Poisson generalized linear mixed models (GLMMs) were used to evaluate differences in fidelity scores and incidence of COVID-19 infections.
RESULTS
GHs (n=415) were randomized to TBP (n=208) and GBP (n=207) including 3,836 residents (1,041 ID/DD; 2,795 SMI) and 5,538 staff. No differences were found in fidelity scores or COVID-19 incidence rates between TBP and GBP, however TBP had greater acceptability, appropriateness, and feasibility. No overall differences in vaccination rates were found between TBP and GBP. However, among unvaccinated group home residents with mental disabilities, non-White residents achieved full vaccination status at double the rate for TBP (28.6%) compared to GBP (14.4%) at 15 months. Additionally, the impact of TBP on vaccine uptake was over two-times greater for non-White residents compared to non-Hispanic White residents (ratio of HR for TBP between non-White and non-Hispanic White: 2.28, p = 0.03).
CONCLUSION
Tailored COVID-19 prevention strategies are beneficial as a feasible and acceptable implementation strategy with the potential to reduce disparities in vaccine acceptance among the subgroup of non-White individuals with mental disabilities.
TRIAL REGISTRATION
ClinicalTrials.gov, NCT04726371, 27/01/2021. https://clinicaltrials.gov/study/NCT04726371 .
Topics: Humans; COVID-19; Male; Female; Adult; Massachusetts; Middle Aged; Group Homes; Mental Disorders; COVID-19 Vaccines; Intellectual Disability
PubMed: 38926810
DOI: 10.1186/s12889-024-18835-w -
American Journal of Medical Genetics.... Jun 2024Mosaic Down syndrome is a triplication of chromosome 21 in some but not all cells. Little is known about the epidemiology of mosaic Down syndrome. We described...
BACKGROUND
Mosaic Down syndrome is a triplication of chromosome 21 in some but not all cells. Little is known about the epidemiology of mosaic Down syndrome. We described prevalence of mosaic Down syndrome and the co-occurrence of common chronic conditions in 94,533 Medicaid enrolled adults with any Down syndrome enrolled from 2016 to 2019.
METHODS
We identified mosaic Down syndrome using the International Classification of Diseases and Related Health Problems, tenth edition code for mosaic Down syndrome and compared to those with nonmosaic Down syndrome codes. We identified chronic conditions using established algorithms and compared prevalence by mosaicism.
RESULTS
In total, 1966 (2.08%) had claims for mosaic Down syndrome. Mosaicism did not differ by sex or race/ethnicity with similar age distributions. Individuals with mosaicism were more likely to present with autism (13.9% vs. 9.6%) and attention deficit hyperactivity disorder (17.7% vs. 14.0%) compared to individuals without mosaicism. In total, 22.3% of those with mosaic Down syndrome and 21.5% of those without mosaicism had claims for Alzheimer's dementia (Prevalence difference: 0.8; 95% Confidence interval: -1.0, 2.8). The mosaic group had 1.19 times the hazard of Alzheimer's dementia compared to the nonmosaic group (95% CI: 1.0, 1.3).
DISCUSSION
Mosaicism may be associated with a higher susceptibility to certain neurodevelopmental and neurodegenerative conditions, including Alzheimer's dementia. Our findings challenge previous assumptions about its protective effects in Down syndrome. Further research is necessary to explore these associations in greater depth.
PubMed: 38925597
DOI: 10.1002/ajmg.c.32097 -
Acta Obstetricia Et Gynecologica... Jun 2024This study aimed to report the screening performance of cell-free DNA (cfDNA) testing for chromosomal abnormalities in twins, triplets, and vanishing twin pregnancies.
INTRODUCTION
This study aimed to report the screening performance of cell-free DNA (cfDNA) testing for chromosomal abnormalities in twins, triplets, and vanishing twin pregnancies.
MATERIAL AND METHODS
Data were obtained from pregnant women with a multiple pregnancy or a vanishing twin pregnancy at ≥10 weeks' gestation who requested self-financed cfDNA testing between May 2015 and December 2021. Those that had positive screening results had diagnostic confirmatory procedures after counseling and consent. The performance of screening of the cfDNA test was determined by calculating confirmation rate and combined false-positive rate (cFPR).
RESULTS
Data from 292 women were included after exclusion of those lost to follow-up, with no-result on cfDNA testing, or had reductions. Of the 292 pregnancies, 10 (3.4%) were triplets, including no cases of trisomy 21 and trisomy 18; 249 (85.3%) were twins, including 3 cases of trisomy 21 and no cases of trisomy 18 and 13; and 33 (11.3%) were vanishing twins, including 3 cases of trisomy 21 and 1 case of trisomy 18. The median (IQR) maternal age was 34 years (31-37). For triplet pregnancies, the initial no-result rate was 10.3% (95% confidence interval [CI] 3.6-26.4), all with results after redraw. For twin pregnancies, the initial no-result rate was 12.9% (95% CI 9.6-17.0), and the no-result rate after redraw was 1.6% (95% CI 0.7-3.6). For vanishing twins, there were no cases with no-result. All triplets had low-risk cfDNA results. The confirmation rate for trisomy 21 was 100% with a FPR at 0% due to the small number of positive cases for twins. For vanishing twins, one high-risk case for trisomy 21 and the only high-risk case for trisomy 18 were confirmed with a cFPR of 8.3% (n = 2/24; 95% CI 2.3-25.9).
CONCLUSIONS
cfDNA testing in twin pregnancies has sufficient screening performance for trisomy 21 but the number of affected cases for other conditions is limited to draw any meaningful conclusion. The use of cfDNA testing in triplet pregnancies and vanishing twins remains an area for further research.
PubMed: 38924543
DOI: 10.1111/aogs.14901 -
Science Advances Jun 2024Caregiving for disabled individuals among Neanderthals has been known for a long time, and there is a debate about the implications of this behavior. Some authors...
Caregiving for disabled individuals among Neanderthals has been known for a long time, and there is a debate about the implications of this behavior. Some authors believe that caregiving took place between individuals able to reciprocate the favor, while others argue that caregiving was produced by a feeling of compassion related to other highly adaptive prosocial behaviors. The study of children with severe pathologies is particularly interesting, as children have a very limited possibility to reciprocate the assistance. We present the case of a Neanderthal child who suffered from a congenital pathology of the inner ear, probably debilitating, and associated with Down syndrome. This child would have required care for at least 6 years, likely necessitating other group members to assist the mother in childcare.
Topics: Down Syndrome; Humans; Animals; Neanderthals; Child; Female; Male; Child, Preschool
PubMed: 38924400
DOI: 10.1126/sciadv.adn9310 -
Prenatal Diagnosis Jun 2024Acute fetal leukemia is rare and characterized by a very poor prognosis. The aims of this study were to identify cases of acute fetal leukemia and to describe ultrasound...
INTRODUCTION
Acute fetal leukemia is rare and characterized by a very poor prognosis. The aims of this study were to identify cases of acute fetal leukemia and to describe ultrasound and fetopathological findings that should lead to a suspicion of this diagnosis, as well as the investigations required to confirm it.
METHODS
A national retrospective study was conducted. Clinical data, prenatal ultrasounds and postmortem findings of fetal acute leukemia cases were collected and analyzed.
RESULTS
We collected seven cases: four in utero fetal deaths, two neonatal deaths and one termination of pregnancy. Prenatal ultrasounds showed fetal hydrops (42.9%) associated with hepatosplenomegaly (100%). In addition, post-mortem examination (n = 6) suggested a Down syndrome in one case and showed other organomegaly (83.3%) due to blastic infiltration, mainly in the liver, along with extrahepatic multivisceral hematopoiesis. Immunostainings allowed to specify the type of leukemia (71.4%). In one case, diagnosis was made on blood smear and flow cytometry was performed on fresh blood samples. All cases corresponded to acute myeloid leukemia. Karyotype was abnormal in 4 cases (66.7%), including one free trisomy 21, two mosaic trisomy 21 and one chromosome 15 deletion. GATA1 gene mutations were identified in two cases: one mosaic trisomy 21 and one with normal karyotype.
CONCLUSION
Any hepatosplenomegaly associated with fetal hydrops and a negative immune, infectious, and metabolic work-up, should suggest acute fetal leukemia and prompt additional investigations.
PubMed: 38923613
DOI: 10.1002/pd.6630 -
The Laryngoscope Jun 2024Hypoglossal nerve stimulation (HGNS) is an effective therapy for carefully selected pediatric patients with Down syndrome (DS) and obstructive sleep apnea (OSA), but...
INTRODUCTION
Hypoglossal nerve stimulation (HGNS) is an effective therapy for carefully selected pediatric patients with Down syndrome (DS) and obstructive sleep apnea (OSA), but optimization of device settings has been focused on stimulation settings. The potential benefits of sensing lead setting optimization have not been investigated. We describe a series of three cases of HGNS in children with DS where optimization of both the stimulation lead and sensing lead settings, as well as utilization of drug-induced sleep endoscopy (DISE), when indicated, was more effective than stimulation lead optimization alone.
METHODS
Using our novel titration algorithm, among the three identified pediatric patients with DS in whom HGNS initially failed to reduce the apnea-hypopnea index (AHI), two patients in whom sleep studies were characterized as hypopnea-dominant were assigned to advanced titration (optimization of stimulation settings and sensing lead settings). The third patient, with an obstructive apnea-dominant sleep study, was referred for interrogated DISE. Advanced titration included adjustment of both stimulation settings and sensing lead settings.
RESULTS
Application of the advanced titration algorithm, tailored to obstructive apnea- versus hypopnea-dominant sleep patterns, resulted in approximately 50% or greater reduction in AHI in all three patients. "Normal to mild OSA" AHI (AHI <5) was achieved in two patients.
CONCLUSIONS
A novel diagnostic and therapeutic titration algorithm for the Inspire HGNS system significantly reduced AHI in three pediatric patients with DS and OSA who had failed to respond to the standard device titration that focused solely on stimulation settings.
LEVEL OF EVIDENCE
4 Laryngoscope, 2024.
PubMed: 38922916
DOI: 10.1002/lary.31600 -
Case Reports in Dentistry 2024Managing dental care in children with special health care needs poses distinct challenges. This case report explores these challenges within the context of a 9-year-old...
BACKGROUND
Managing dental care in children with special health care needs poses distinct challenges. This case report explores these challenges within the context of a 9-year-old boy with Down syndrome (DS) facing dental treatment refusal. Over ten months and 13 visits, a tailored approach was devised for the patient who presented with multiple cavities and retained primary teeth. Key strategies included gradually introducing dental procedures, including tooth brushing, intraoral examination, tooth preparation, extraction, and myofunctional therapy. Behaviour guidance techniques include tell-show-do, desensitization, positive reinforcement, and close collaboration between dental professionals and the patient's mother. This methodical approach helped overcome the child's initial refusal without sedation or general anaesthesia, facilitating successful dental care.
CONCLUSION
This case emphasizes the effectiveness of patient-centred strategies and detailed communication in pediatric dentistry for children with DS, providing valuable insights for managing similar challenges in dental care.
PubMed: 38919976
DOI: 10.1155/2024/2966972 -
Iranian Journal of Public Health Mar 2024Most of the people with Down syndrome have short stature compared to general population. There is also a high prevalence of overweight and obesity, mainly in the...
BACKGROUND
Most of the people with Down syndrome have short stature compared to general population. There is also a high prevalence of overweight and obesity, mainly in the adolescence and in the adult life. The aim of this study was to compare some anthropometric parameters, heart rate and blood pressure of children with Down syndrome and those with normal development. Down syndrome is among the most commonly classified categories of mental sub normality, with the incidence at birth being around 1: 700 and 1: 750 in live births in most countries worldwide, with the risk of increasing with mother's age.
METHODS
The sample consisted of 82 children, 32 with Down syndrome and 50 healthy children, male, aged 14-15 yr from the population of Kosovo in 2022. There were no health problems present in the healthy children.
RESULTS
About 53% of children with Down syndrome have normal body mass, 15.62% are overweight, and 21.8 are obese. In terms of blood pressure, Down syndrome children have higher systolic pressure (121.94mm/hg), sd ±21.69 than healthy children (111.18mm/hg, sd ±10.88).
CONCLUSION
Children with Down syndrome had significantly higher body mass index, heart rate, and systolic pressure at rest compared to healthy children. However, after short physical activity, healthy children exhibited greater diastolic pressure than children with Down syndrome.
PubMed: 38919303
DOI: 10.18502/ijph.v53i3.15140