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Purpose: To report our experience with laparoscopic repair of anterior congenital diaphragmatic hernia (CDH) using extracorporeal subcutaneous knot tying and to define recurrence risk factors. Methods: This retrospective unicentric study included children who underwent laparoscopic repair of anterior CDH without patch, using extracorporeal knot tying of sutures passed through the full thickness of the abdominal wall (2013–2020). A systematic review of the literature with meta-analysis was performed using the MEDLINE database since 2000. Results: Eight children were included (12 months [1–183]; 10.6 kg [3.6–65]). Among the two patients with Down syndrome, one with previous cardiac surgery had a recurrence at 17 months postoperatively. In our systematic review (26 articles), among the 156 patients included, 10 had a recurrence (none with patch). Recurrence was statistically more frequent in patients with Down syndrome (19.4%) than without (2.5%) (p < 0.0001), and when absorbable sutures were used (50%) instead of non-absorbable sutures (5.3%) (p < 0.0001). Conclusion: Laparoscopic repair of anterior CDH without patch was a safe and efficient surgical approach in our patients. The use of a non-absorbable prosthetic patch should be specifically discussed in anterior CDH associated with Down syndrome and/or in case of previous cardiac surgery to perform a diaphragmatic tension-free closure. [ABSTRACT FROM AUTHOR]

Infantile epileptic spasms syndrome (IESS) with Down syndrome has good treatment response and good seizure outcomes with high-dose adrenocorticotrophic hormone (ACTH) therapy. We investigated the early treatment response of epileptic spasms (ES), long-term seizure outcome, and efficacy of very-low-dose ACTH therapy for IESS with Down syndrome. We retrospectively investigated patients with Down syndrome and IESS between April 1983 and January 2023. We defined response to treatment as clinical remission and electrographic resolution of hypsarrhythmia after treatment for more than one month and early treatment as any treatment for ES within three months of initiation of treatment. Long-term seizure outcomes were determined by the presence of any type of seizure within one year of the last visit. We investigated the dosage and efficacy of very-low-dose ACTH therapy. Thirty patients were enrolled with a median follow-up period of 7.7 years (range: 1.3 to 19.1). The response and relapse rates in the early treatment were 83.3% and 16.0%, respectively. The seizure-free rate of long-term seizure outcomes was 80.0%. Long-term seizure outcomes correlated with early treatment response to ES. The response rate of very-low-dose ACTH therapy was 59.3%. The efficacy of ACTH therapy tended to be dose-dependent (P = 0.055). Early treatment response to ES may be useful in predicting long-term seizure outcomes of IESS with Down syndrome. Very-low-dose ACTH therapy was the most effective treatment for ES and could exhibit dose-dependent efficacy. Depending on the IESS etiology, the ACTH dose could be reduced to minimize its side effects. [ABSTRACT FROM AUTHOR]

Down syndrome is one of the most common genetic diseases, generally associated with an increased probability of congenital heart diseases. This increased risk contributes to escalated levels of morbidity and mortality. In this study, we sought to analyze nationwide data of pediatric and adult patients with Down syndrome and congenital heart disease over a 15-year period. Data obtained from the hospital discharge form between 2001 and 2016 of patients diagnosed with Down syndrome in Italy and at least one congenital heart disease were included. Information on 12362 admissions of 6527 patients were included. Age at first admission was 6.2 ± 12.8 years and was a predictor of mortality (HR = 1.51, 95% CI 1.13–2.03, p = 0.006). 3923 (60.1%) patients underwent only one admission, while 2604 (39.9%) underwent multiple (> 1) admissions. There were 5846 (47.3%) admissions for cardiac related symptoms. Multiple admissions (SHR: 3.13; 95% CI: 2.99, 3.27; P < 0.01) and cardiac admissions (SHR: 2.00; 95% CI: 1.92, 2.09; P < 0.01) were associated with an increased risk of additional potential readmissions. There was an increased risk of mortality for patients who had cardiac admissions (HR = 1.45, 95% CI: 1.08–1.94, p = 0.012), and for those who underwent at least 1 cardiac surgical procedure (HR = 1.51, 95% CI 1.13–2.03, p = 0.006). Conclusions: A younger age at first admission is a predictor for mortality in patients with Down syndrome and congenital heart disease. If patients undergo more than one admission, the risk of further readmissions increases. There is a pivotal role for heart disease in influencing the hospitalization rate and subsequent mortality. What is Known: • Down syndrome individuals often face an increased risk of congenital heart diseases. • Congenital heart diseases contribute significantly to morbidity and mortality in Down syndrome patients. What is New: • This study analyzes nationwide data covering a 15-year period of pediatric and adult patients in Italy with Down syndrome and congenital heart disease. • It identifies a younger age at first admission as a predictor for mortality in these patients, emphasizing the criticality of early intervention. • Demonstrates a correlation between multiple admissions, particularly those related to cardiac issues, and an increased risk of further readmissions, providing insights into the ongoing healthcare needs of these individuals. [ABSTRACT FROM AUTHOR]

Background: Feeding difficulty is widely recognized in patients with Down syndrome, and many patients require gastrostomy tube (G‐tube) placement for nutrition. No reliable factors have been identified to predict the expected duration of G‐tube feeds in patients with Down syndrome. This descriptive cohort study aimed to determine the factors affecting the duration of G‐tube feeds. We also investigated change in body mass index (BMI) from G‐tube placement to discontinuation. Methods: Medical records of patients with Down syndrome seen by a pediatric gastroenterologist at a tertiary care center between September 1986 and December 2021 were reviewed. Data collection included demographics, anthropometrics, comorbidities, and feeding route. Comparison was performed between patients who discontinued G‐tube feeds and those who did not. Results: Two hundred twenty patients (45% female) were included. The median age at G‐tube placement was 5 months (interquartile range [IQR]: 0.2–1.3 years). There were 113 (51%) patients who discontinued G‐tube feeds, after a median duration of 31.6 months (IQR: 15.6–55.7 months). Tracheostomy was the only covariant associated with a longer duration of G‐tube feeds (158 months vs 53 months; P = 0.002). Neither age at G‐tube placement nor any comorbidities were associated with BMI status at discontinuation of G‐tube. Conclusion: In our cohort of patients with Down syndrome, age at placement of G‐tube did not impact the duration of G‐tube feeds. Most patients who had a G‐tube placed were likely to require enteral feeds for at least 1 year. Those who had a tracheostomy needed their G‐tube for a longer time. [ABSTRACT FROM AUTHOR]

The increased lifespan of people with Down syndrome (DS) is a very positive development. However, parents, who are often the primary caregivers, can struggle to provide the support their child with DS needs as they get older. The extent to which siblings are willing/able to support a brother or sister with DS depends on the quality of their relationship with that person and on their perceptions of how having a sibling with DS has impacted their lives. We assessed these impacts by analysing responses from 120 siblings of a person with DS to a questionnaire comprising both closed and open-ended questions. Having a sibling with DS had a generally positive impact on people’s values and personal and professional choices. Some choices (e.g. occupation, activities, residential proximity) were impacted by multiple factors (e.g. gender, sibling position, number of siblings). These considerations may influence people’s willingness to help support a sibling with DS. [ABSTRACT FROM AUTHOR]

Background: 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. Aims: 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. Methods and Procedures: 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. Outcomes and Results: 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. Conclusions and Implications: 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. [ABSTRACT FROM AUTHOR]

Obstructive sleep apnea (OSA) is highly prevalent in individuals with Down syndrome (DS), affecting more than 50% of this population during childhood and reaching up to 100% in adulthood. This disorder poses significant clinical consequences, including impaired cognitive function, developmental delay, and cardiovascular complications. To address this, direct hypoglossal nerve stimulation (HNS) has been approved as a treatment modality for OSA. Recent studies have shown a significant positive correlation between HNS voltage and post-apnea-hypopnea index (AHI) levels in DS and non-DS patients. However, concerns regarding the reliability of some findings have been raised, emphasizing the need for further research to underline the usefulness of HNS in treating OSA in DS patients. This meta-analysis provides a comprehensive review and analysis of the available case reports, case series, and cohort studies to evaluate the safety and efficacy of HNS in treating OSA in Down syndrome patients. [ABSTRACT FROM AUTHOR]

In this article, we describe a rare and complex case of moyamoya syndrome in a 7-year-old boy with Down syndrome and atlantoaxial subluxation. The patient presented with an ischemic stroke in the left hemisphere and cervical cord compression with increased cord edema. Diagnostic digital subtraction angiography revealed unique patterns of vascular involvement, with retrograde flow through the anterior spinal artery, ascending cervical artery, occipital artery, and multiple leptomeningeal arteries compensating for bilateral vertebral artery occlusion. This case underscores the underreported phenomenon of upward retrograde flow through the anterior spinal artery in bilateral vertebral artery occlusion. We address the rare manifestation of posterior circulation involvement in moyamoya syndrome, highlighting the importance of considering atlantoaxial instability as a contributing factor, as the absence of atlantoaxial stability is a risk factor for vertebral artery dissection. This study contributes valuable insights into the intricate relationship of moyamoya syndrome, Down syndrome, and atlantoaxial instability, urging clinicians to consider multifaceted approaches in diagnosis and treatment. It also emphasizes the potential significance of the anterior spinal artery as a compensatory pathway in complex vascular scenarios. [ABSTRACT FROM AUTHOR]

In people with genetic forms of Alzheimer's disease, such as in Down syndrome and autosomal-dominant Alzheimer's disease, pathological changes specific to Alzheimer's disease (ie, accumulation of amyloid and tau) occur in the brain at a young age, when comorbidities related to ageing are not present. Studies including these cohorts could, therefore, improve our understanding of the early pathogenesis of Alzheimer's disease and be useful when designing preventive interventions targeted at disease pathology or when planning clinical trials. We compared the magnitude, spatial extent, and temporal ordering of tau spread in people with Down syndrome and autosomal-dominant Alzheimer's disease. In this cross-sectional observational study, we included participants (aged ≥25 years) from two cohort studies. First, we collected data from the Dominantly Inherited Alzheimer's Network studies (DIAN-OBS and DIAN-TU), which include carriers of autosomal-dominant Alzheimer's disease genetic mutations and non-carrier familial controls recruited in Australia, Europe, and the USA between 2008 and 2022. Second, we collected data from the Alzheimer Biomarkers Consortium–Down Syndrome study, which includes people with Down syndrome and sibling controls recruited from the UK and USA between 2015 and 2021. Controls from the two studies were combined into a single group of familial controls. All participants had completed structural MRI and tau PET (18F-flortaucipir) imaging. We applied Gaussian mixture modelling to identify regions of high tau PET burden and regions with the earliest changes in tau binding for each cohort separately. We estimated regional tau PET burden as a function of cortical amyloid burden for both cohorts. Finally, we compared the temporal pattern of tau PET burden relative to that of amyloid. We included 137 people with Down syndrome (mean age 38·5 years [SD 8·2], 74 [54%] male, and 63 [46%] female), 49 individuals with autosomal-dominant Alzheimer's disease (mean age 43·9 years [11·2], 22 [45%] male, and 27 [55%] female), and 85 familial controls, pooled from across both studies (mean age 41·5 years [12·1], 28 [33%] male, and 57 [67%] female), who satisfied the PET quality-control procedure for tau-PET imaging processing. 134 (98%) people with Down syndrome, 44 (90%) with autosomal-dominant Alzheimer's disease, and 77 (91%) controls also completed an amyloid PET scan within 3 years of tau PET imaging. Spatially, tau PET burden was observed most frequently in subcortical and medial temporal regions in people with Down syndrome, and within the medial temporal lobe in people with autosomal-dominant Alzheimer's disease. Across the brain, people with Down syndrome had greater concentrations of tau for a given level of amyloid compared with people with autosomal-dominant Alzheimer's disease. Temporally, increases in tau were more strongly associated with increases in amyloid for people with Down syndrome compared with autosomal-dominant Alzheimer's disease. Although the general progression of amyloid followed by tau is similar for people Down syndrome and people with autosomal-dominant Alzheimer's disease, we found subtle differences in the spatial distribution, timing, and magnitude of the tau burden between these two cohorts. These differences might have important implications; differences in the temporal pattern of tau accumulation might influence the timing of drug administration in clinical trials, whereas differences in the spatial pattern and magnitude of tau burden might affect disease progression. None. [ABSTRACT FROM AUTHOR]

Background and Objectives: The risks of uveitis development among pediatric patients with Down syndrome (DS) remain unclear. Therefore, we aimed to determine the risk of uveitis following a diagnosis of DS. Materials and Methods: This multi-institutional retrospective cohort study utilized the TriNetX database to identify individuals aged 18 years and younger with and without a diagnosis of DS between 1 January 2000 and 31 December 2023. The non-DS cohort consisted of randomly selected control patients matched by selected variables. This included gender, age, ethnicity, and certain comorbidities. The main outcome is the incidence of new-onset uveitis. Statistical analysis of the uveitis risk was reported using hazard ratios (HRs) and 95% confidence intervals (CIs). Separate analyses of the uveitis risk among DS patients based on age groups and gender were also performed. Results: A total of 53,993 individuals with DS (46.83% female, 58.26% white, mean age at index 5.21 ± 5.76 years) and 53,993 non-DS individuals (45.56% female, 58.28% white, mean age at index 5.21 ± 5.76 years) were recruited from the TriNetX database. Our analysis also showed no overall increased risk of uveitis among DS patients (HR: 1.33 [CI: 0.89–1.99]) compared to the non-DS cohort across the 23-year study period. Subgroup analyses based on different age groups showed that those aged 0–1 year (HR: 1.36 [CI: 0.68–2.72]), 0–5 years (HR: 1.34 [CI: 0.75–2.39]), and 6–18 years (HR: 1.15 [CI: 0.67–1.96]) were found to have no association with uveitis risk compared to their respective non-DS comparators. There was also no increased risk of uveitis among females (HR: 1.49 [CI: 0.87–2.56]) or males (HR: 0.82 [CI: 0.48–1.41]) with DS compared to their respective non-DS comparators. Conclusions: Our study found no overall increased risk of uveitis following a diagnosis of DS compared to a matched control population. [ABSTRACT FROM AUTHOR]

Aim: To determine the barriers and facilitators of active community participation of children, adolescents, and adults with Down syndrome. Method: Searches were completed in five electronic databases to identify original studies about participation of children, adolescents (ages < 18 years), and adults (ages 18–59 years) with Down syndrome. Barriers and facilitators to participation were categorized into four factors: personal, social, environmental, and policy and programme. Findings were analysed and validated by a young adult with Down syndrome and a family member, using the public and patient involvement strategy. Results: Fourteen studies were included: eight with children and adolescents and six with adults. Of the 14 studies, 10 were qualitative and four quantitative. Most studies (n = 9) investigated participation in physical activities, while only a few examined participation in community/social activities (n = 3), daily activities (n = 2), and leisure activities (n = 1). The most commonly cited barriers and facilitators were the availability of programmes and specialized professionals, transportation, as well as attitudes and behaviours. Physical and psychological characteristics of people with Down syndrome and facilities were also frequently mentioned as barriers. On the other hand, the desire to stay active and personal interest in the activity were among the most frequently reported facilitators. Interpretation: The participation of people with Down syndrome is mainly influenced by physical or psychological factors, the support and attitudes of parents/caregivers, and the availability of specialized programmes. Given the scarcity of research investigating the participation of people with Down syndrome in community activities, daily activities, and leisure, especially in adults, more studies are still needed. [ABSTRACT FROM AUTHOR]

Copyright of Revista Nutrición Clínica y Dietética Hospitalaria is the property of Sociedad Espanola de Dietetica y Ciencias de la Alimentacion and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

INTRODUCTION: Addressing practical challenges in clinical practice after the recent approvals of amyloid antibodies in Alzheimer's disease (AD) will benefit more patients. However, generating these answers using clinical trials or real‐world evidence is not practical, nor feasible. METHODS: Here we use a Quantitative Systems Pharmacology (QSP) computational model of amyloid aggregation dynamics, well validated with clinical data on biomarkers and amyloid‐related imaging abnormality–edema (ARIA‐E) liability of six amyloid antibodies in clinical trials to explore various clinical practice challenges. RESULTS: Treatment duration to reach amyloid negativity ranges from 12 to 44, 16 to 40, and 6 to 20 months for lecanemab, aducanumab, and donanemab, respectively, for baseline central amyloid values between 50 and 200 Centiloids (CL). Changes in plasma cerebrospinal fluid Aβ42 and the plasma Aβ42/ Aβ40 ratio—fluid biomarkers to detect central amyloid negativity—is greater for lecanemab than for aducanumab and donanemab, indicating that these fluid amyloid biomarkers are only suitable for lecanemab. After reaching amyloid negativity an optimal maintenance schedule consists of a 24‐month, 48‐month and 64‐month interval for 10 mg/kg (mpk) lecanemab, 10 mpk aducanumab, and 20 mpk donanemab, respectively, to keep central amyloid negative for 10 years. Cumulative ARIA‐E liability could be reduced to almost half by introducing a drug holiday in the first months. For patients experiencing ARIA‐E, restarting treatment with a conservative titration strategy resulted in an additional delay ranging between 3 and 4 months (donanemab), 5 months (lecanemab), and up to 7 months (aducanumab) for reaching amyloid negativity, depending upon the timing of the incident. Clinical trial designs for Down syndrome patients suggested the same rank order for central amyloid reduction, but higher ARIA‐E liability especially for donanemab, which can be significantly mitigated by adopting a longer titration period. DISCUSSION: This QSP platform could support clinical practice challenges to optimize real‐world treatment paradigms for new and existing amyloid drugs. [ABSTRACT FROM AUTHOR]

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. About 13% were born preterm; 50.2% of the subjects maternal age at conception were thirty-five years and above. Over three-quarters (75.1%) had at least one structural congenital anomaly. Multiple anomalies were diagnosed in 12.8% of the subjects. At least one cardiac congenital anomaly was diagnosed in 67.3% of the study subjects, and 32.8% of them were diagnosed with multiple cardiac anomalies. Patent ductus arteriosus (28.5%), Ventricular septal defect (23.2%), and AVSD (21.9%) were the three common lesions. At least one genitourinary system anomaly was identified in 32 (6.4%) of them. Roughly, 8% of study participants exhibited congenital anomaly of the head, eye, nose, and throat. Anorectal malformation was found as the most common gastrointestinal anomaly. Maternal age at conception was found as independent predictor for presence of structural congenital anomaly (AOR 2.59; 95% CI 1.58– 4.23, p-value < 0.01). Advanced maternal age is also found increasing the risk of developing congenital heart defect (AOR 2.37; 95% CI 1.52– 3.7, p-value < 0.01). Conclusion: High prevalence of congenital anomalies has been noted in the current study compared to previous studies. Predictive factors increasing risk of congenital anomalies in DS patients have been identified. The current findings may help in developing strategies and more targeted preventive and therapeutic interventions. [ABSTRACT FROM AUTHOR]

Background/aim: To analyze the long-term outcome of pediatric patients with acute myeloblastic leukemia. Materials and methods: Data from 69 patients 0--18 years of age diagnosed between December 2001 and October 2019 were analyzed in April 2023. Patients received MRC-AML10 chemotherapy (2ADE+MACE+MidAC). No maintenance chemotherapy or preventive cranial radiotherapy was administered. Twelve patients with Down syndrome and 15 patients with promyelocytic leukemia were in the cohort. Patients with Down syndrome received reduced chemotherapy (cumulative anthracycline 420 mg/m2, cytarabine 3.4 g/m2, etoposide 1400 mg/m2). ATRA was added to chemotherapy in promyelocytic leukemia. Results: Four patients (5.8%) died in the induction (two typhlitis, one intracranial hemorrhage, and one resistant disease). The complete remission rate of 66 patients was 87.8%. There was one death due to cardiotoxicity. Total infection-related deaths were 7.2%. Seven patients with high-risk criteria and one with resistant disease underwent hematopoietic stem cell transplantation (HSCT) following the first-line treatment. All seven patients in remission were alive and disease-free. The relapse rate was 34.4% (n = 21). Four patients developing marrow relapse were disease-free in the second remission after salvage and maintenance chemotherapy. Thirteen patients (18.84%) underwent HSCT in the second remission and 8 are alive and disease-free. The mean follow-up period of patients from diagnosis was 185 ± 13 months. Thirty-four patients (49.2%) were alive and disease-free in the first remission whereas another two patients in the first remission developed secondary malignancy. In good, standard, and poor risk groups, event-free survival (EFS) rates were 68.2%, 52.9%, and 10%, and overall survival (OS) rates were 86.4%, 79.4%, and 20%, respectively. Fifteen years of EFS and OS of the whole cohort were 49.3% and 69.6%, respectively. Conclusion: When compared with national data and multicenter studies of developed countries, survival rates were acceptable. [ABSTRACT FROM AUTHOR]

Introduction: Down syndrome (DS) is associated with multiple comorbid conditions and chronic immune dysfunction. Persons with DS who contract COVID‐19 are at high risk for complications and have a poor prognosis. We aimed to study the clinical symptoms, laboratory and biochemical profiles, radiologic findings, treatment, and outcomes of patients with DS and COVID‐19. Method: We systematically searched PubMed, MEDLINE, Web of Science, Scopus, and the Cochrane Library using the keywords COVID‐19 or coronavirus or SARS‐CoV‐2 and DS or trisomy 21. Seventeen articles were identified: eight case reports and nine case series published from December 2019 through March 2022, with a total of 55 cases. Results: Patients averaged 24.8 years (26 days to 60 years); 29 of the patients were male. The most common symptoms were fever, dyspnea, and cough. Gastrointestinal and upper respiratory tract symptoms were commonly reported for pediatric patients. The most common comorbidities present in patients with DS were obesity (49.0%), hypothyroidism (21.6%) and obstructive sleep apnea (15.6%). The patients were hospitalized for a mean of 14.8 days. When the patients were compared with the general COVID‐19 population, the mean number of hospitalized days was higher. Most patients had leukopenia, lymphopenia, and elevated inflammatory markers (d‐dimer and C‐reactive protein). Bilateral infiltrations and bilateral ground‐glass opacifications were frequently seen in chest radiographs and chest computed tomographic imaging. Most of the patients were treated with methylprednisolone, macrolides, and hydroxychloroquine. Of the 55 patients, 22 died. The mean age of the patients who died was 42.8 years. Mortality rate was higher in individuals with DS over 40 years of age. Conclusion: More studies are needed to better understand COVID‐19 infections among persons with DS. In addition, the study was limited by a lack of statistical analyses and a specific comparison group. [ABSTRACT FROM AUTHOR]

A study published in Clinical Drug Investigation examined the safety and effectiveness of biologic medications and Janus kinase (JAK) inhibitors in patients with Down syndrome (DS) who had inflammatory conditions. The study found that these medications were generally safe and effective in treating conditions such as psoriasis, psoriatic arthritis, and hidradenitis suppurativa. The study also noted that there were no cases of cancer reported, despite the increased risk in people with DS. However, the study had limitations and further research is needed to confirm these findings. [Extracted from the article]

Background: Down syndrome is a genetic disorder that causes physical and cognitive challenges. Identifying the impact of sedentary behavior and physical activity on people with Down syndrome is crucial for early intervention. The purpose of this study is to compare physical activity and sedentary behavior among children with Down syndrome and typically developing children, as well as assess their relationship with quality of life. Methods: In the cross-sectional study, 67 children between the ages of 6 and 12 were enrolled: 29 in the Down syndrome group and 38 in the typically developing group. Each child wore an ActiGraph wGT3X-BT for seven days. Accelerometer data and quality of life data were analysed. Results: Physical activity and sedentary behavior were not significantly different between the Down syndrome and typically developing groups (p ˃.05). With large effect sizes (partial eta squares ranging from 0.21 to 0.59), typically developing children had a significantly better quality of life than children with Down syndrome. There was a weak positive correlation between moderate physical activity and school performance in children with Down syndrome. For typically developing children, there is a weak negative correlation between light physical activity and physical function, school function, and total paediatric quality of life scale scores. Conclusions: This study indicates that children with Down syndrome have participated in more physical activities, resulting in a reduction in differences between them and typically developing children. Additionally, typically developing had higher quality of life than children with Down syndrome. For healthcare professionals and educators, these findings provide valuable insights into developing strategies to enhance physical activity for children with developmental disabilities. [ABSTRACT FROM AUTHOR]

Background: The aim of the study was to identify the variables of the internal compensatory mechanisms that differentiate the body build and posture of people with Down syndrome (DS) from the intellectual disability (ID) population. It was assumed that gaining knowledge in the abovementioned aspect will allow for a better understanding of the limitation of the kinesthetic abilities of people with ID and DS and simultaneously enable to optimize the process of planning and interventions to improve physical activity in this population with the adequate use of theirs strengths in the biomechanical and morphofunctional systems. Methods: The methodology of this systematic review was developed according to the PRISMA guidelines. A search of PubMed, EBSCO, Scopus databases was conducted to identify all studies on DS/ID and the body build and posture from 2003 to 2023. Results: 395 articles were assessed to determine eligibility, while 22 studies met the inclusion criteria and were subjected to detailed analysis and assessment of their methodological quality. The differentiation of the body build and posture in DS population can be induced by both internal and external compensatory mechanisms. It is difficult to confirm the direct effect of the intrinsic variables that impact the body build and posture in the ID population, excluding people with DS. Conclusions: Compared to other ID, the intrinsic differences in the body build and posture in DS individuals were induced by gender, age, and level of ID. The tendency for diversity between DS and other ID populations in body build and posture may be determined by the presence of the third copy of chromosome 21 in DS group. Internal compensatory processes may be induced mainly by abnormalities in the structure of the cervical vertebrae and feet. IQ should not be used as the only variable that identifies the population of people with ID. [ABSTRACT FROM AUTHOR]

Down syndrome (DS) is a chromosomal disorder due to the presence of an additional chromosome 21 that causes intellectual deficit and physical anomalies and predisposes patients to develop infections throughout their lives. Pneumonias are more serious in patients with DS, requiring hospitalization, and they represent an important cause of mortality in this population. Cytomegalovirus (CMV) causes widespread and serious infections in immunocompromised individuals, affecting the respiratory tract and, when causing interstitial pneumonia, associated with a high mortality rate. However, CMV-induced pneumonia is not reported in DS patients. The prevalence and severity of CMV respiratory infections in subjects with DS is unknown. This case describes a 50-year-old female patient with DS who developed extensive bilateral pneumonia with severe respiratory failure which required hospitalization in intensive care, intubation, and mechanical ventilation after approximately 10 days of empiric antibiotic and anitimycotic therapy for fever, cough, and dyspnea. The patient was diagnosed with CMV pneumonia and recovered after treatment with ganciclovir. To the best of our knowledge, this is the first reported case of CMV pneumonia in a patient with DS. This case aims to highlight that CMV pneumonia in individuals with DS can be a life-threatening condition. It also clarifies the importance of early diagnosis of infections from opportunistic pathogens such as CMV to ensure timely and efficient treatment. [ABSTRACT FROM AUTHOR]

Scabies is a highly infectious dermatosis. It is caused by the mite Sarcoptes scabiei var. hominis. The available estimates indicate more than 400 million cases of scabies annually. The main route of infection is direct skin contact. The main symptoms such as pruritus appear 3-6 weeks after infection. Additionally, papules, erythema, erosions, excoriations, and crusts may be visible. One of the rarest forms of scabies is Norwegian scabies. This is the most severe variant. Its clinical picture may resemble psoriasis. In the article, we present the case of a 21-year-old patient with Down syndrome who was admitted to the department of dermatology with a diagnosis of psoriasis. During hospitalization, due to clinical doubts, it was decided to extend the diagnostics. Basing on the microscopic examination, Norwegian scabies was diagnosed. The treatment involved oral ivermectin and topical 5% permethrin, which resulted in a remission of the skin lesions and the resolution of itching. [ABSTRACT FROM AUTHOR]

Aims: To study the clinicoradiological features and treatment outcomes of atlantoaxial dislocation (AAD) in Down syndrome. Settings and Design: Retrospective case series. Subjects and Methods: A retrospective chart and radiology review of 9 Down syndrome patients with AAD managed at our center from 2007 to 2018. Statistical Analysis Used: Chi-squared/Fisher's exact test. Results: There were 4 males and 5 females (n = 9). The median age was 14 years (interquartile range [IQR]: 7–15.5). 77.7% (7/9) of patients had severe spasticity (Nurick Grades 4 and 5). The median duration of symptoms was 9 months (IQR: 5–39). The AAD was reducible in all (n = 9) cases. Eight (88.8%) patients had os odontoideum. The mean atlantodental interval (ADI) was 8.5 mm (±2.9). T2W cord hyperintensity was seen in 66.6% (6/9). Posterior C1–2 transarticular fixation was done in 8 and occipitocervical fusion in 1 patient. Follow-up of more than 6 months (7–57 months) was available in 8/9 (88.9%) patients. There was a significant improvement in spasticity (n = 8, mean Nurick Grade 1.7 (±1.1), P = 0.003). Follow-up radiographs (n = 8) showed good reduction and fusion. A preoperative bedbound patient with poor respiratory reserve expired at 10 months following surgery. There were no other complications. Conclusions: Posterior surgical approach for AAD in Down syndrome resulted in good alignment and fusion, with excellent clinical improvement. Patients with elevated PCO 2 are poor surgical candidates and require home ventilation facility. [ABSTRACT FROM AUTHOR]

Copyright of Seminare Learned Investigations / Seminare. Poszukiwania naukowe is the property of Francis de Sales Scientific Society / Towarzystwo Naukowe Franciszka Salezego and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Evaluating prosodic quality poses unique challenges due to the intricate nature of prosody, which encompasses multiple form–function profiles. These challenges are more pronounced when analyzing the voices of individuals with Down syndrome (DS) due to increased variability. This paper introduces a procedure for selecting informative prosodic features based on both the disparity between human-rated DS productions and their divergence from the productions of typical users, utilizing a corpus constructed through a video game. Individual reports of five speakers with DS are created by comparing the selected features of each user with recordings of individuals without intellectual disabilities. The acquired features primarily relate to the temporal domain, reducing dependence on pitch detection algorithms, which encounter difficulties when dealing with pathological voices compared to typical ones. These individual reports can be instrumental in identifying specific issues for each speaker, assisting therapists in defining tailored training sessions based on the speaker's profile. [ABSTRACT FROM AUTHOR]

Copyright of Revista Sociedad Colombiana de Oftalmología is the property of Sociedad Colombiana de Oftalmologia and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Introduction: Down syndrome (DS), an easily recognized congenital disease, is associated with a high prevalence of dental anomalies. Therefore, special dental care is required. Case presentation: This case report described the minimally invasive prosthetic rehabilitation of a 31‐year‐old female patient with DS. Prompt diagnosis, consultation with physicians and family, and accurate medical history were needed, and relevant dental, medical, mental, and behavioral factors were considered. A minimally invasive treatment plan was decided after clinical examination, orthopantomography (OPG), and study model analysis. For the upper jaw, an over denture was constructed. For the lower jaw, a simple metal‐frame partial denture was made. This treatment plan was decided after considering the difficulty in dentist‐patient collaboration and a small maxilla with poor positioning of teeth and negative overbite and over jet. Conclusion: Considering different patient factors including patient cooperation, as well as the medical and dental conditions associated with DS, a minimally invasive prosthodontic treatment option was recommended. [ABSTRACT FROM AUTHOR]

Down syndrome is a health condition caused by an extra copy of genetic material on chromosome 21. People with Down syndrome may have certain physical features and may require additional support in their learning. The condition affects about 1 in every 700 people and can be diagnosed through special testing. There are three ways in which an extra copy of chromosome 21 can occur: through an extra copy from the sperm or egg, through nondisjunction during cell division, or through translocation. Understanding Down syndrome can help promote kindness and understanding towards individuals with the condition. [Extracted from the article]

Thyroid dysfunction stands as the most prevalent endocrine disorder in individuals with Down syndrome, particularly showcasing both clinical and subclinical hypothyroidism. TSH and FT4 blood values serve as common diagnostic and treatment adjustment markers. In Down syndrome (DS), hormone values may deviate from those observed in the general population, which may lead to overdiagnosis and consequent iatrogenesis of subclinical hypothyroidism. The objective of this study was to analyze the appropriateness of the replacement therapeutic approach by identifying the TSH and FT4 values that can be considered normal in these patients. Methods: A cross-sectional study was conducted in 503 subjects with DS of both sexes and without age limit drawn from the Health Program for individuals with DS in Valencia (Spain) from February 1993 to November 2021. The exclusion criteria included hyperthyroidism, nodules, tumors, or individuals under treatment with drugs influencing iodine metabolism. The normality of data distribution was assessed using the Shapiro–Wilk test. Outliers were detected using the Reed's criterion. Hormone values were estimated using quantile regression models for the 2.5th and 97.5th percentiles. Results: The normal values identified were 0.88–11.25 mIU/L for TSH and 0.71–1.63 ng/dL for FT4. The Wald test indicated no significant differences in the reference intervals based on age or sex. Conclusion: The establishment of these values, which, in people with DS, can be considered unique, is of great importance, allowing a watchful waiting attitude to be maintained before starting replacement therapy that is unnecessarily or adjusting medication in diagnosed cases. [ABSTRACT FROM AUTHOR]

Down syndrome (DS) is one of the most common chromosomal disorders. In addition to this variety of dysmorphic features. DS is also associated with a wide range of diseases and related comorbidities affecting different organs and systems. These comorbidities, together with societal and environmental influences, have a negative impact on physical activity in people with DS. Low levels of physical activity and energy expenditure have been identified as crucial players in worsening the acquisition of motor skills and executive functions. Executive functions are critical for the many skills (creativity, flexibility, self-control, and discipline) impacting our quality of life and make it possible to control impulses, mentally play with ideas, and stay focused. We proposed a broad overview of the available literature regarding motor skills and executive functions in pediatric patients with DS to understand the specific challenges for tailoring physical activity interventions. Motor skill interventions are effective in improving motor competence and performance on cognitive, emotional, and physical aspects in children with DS. Interventions based on executive functions in DS subjects are effective to contrast the cognitive decline and improve the everyday use of executive functions in youth and adults. Targeted interventions are mandatory for maximizing the benefits of physical activity, minimizing potential risks, and ultimately improving the overall health outcomes and quality of life for individuals with DS. [ABSTRACT FROM AUTHOR]

Purpose: A "cut and push" (CP) approach has been described in the literature for removal of percutaneous endoscopic gastrostomy (PEG) tubes. The aim of this study is to investigate the safety profile of this method in children. Method: Our study included all children who underwent CP procedure for either removal or replacement of Freka PEG tube at our centre between January 2016 and August 2021. Parents contacted to establish if the internal component had been seen in the stools post-procedure. If not seen, a plain film of chest, abdomen and pelvis was arranged followed by computerised tomography (CT) scan. The presence of the internal component as a retained foreign body on imaging was evaluated along with any complication. Results: Of the 27 patients included, six (22.2%) patients had the internal component seen in the stool. Five (18.5%) patients in total had a retained internal component with three (11.1%) patients had major complications requiring complex surgical interventions, and two (7.4%) patients required endoscopic retrieval. Conclusion: Our study reports more severe complications that required complex surgical interventions compared to the previous studies. We believe that this method of removal is not safe in children and should be abandoned. Also, patients with Down syndrome might be at higher risk of retention and complications. [ABSTRACT FROM AUTHOR]

Background and Objectives: although musculoskeletal alterations are common in patients with Down syndrome (DS), studies investigating this association are scarce, and proposals for diagnostic standardization are limited. We aimed to evaluate the prevalence of musculoskeletal disorders in the lower limbs in a sample of children and adolescents with DS and to investigate the diagnostic capacity of orthopedic clinical examinations performed by orthopedists and pediatricians to diagnose these alterations. Materials and Methods: Twenty-two patients aged between three and ten years with DS were included. Patients and guardians answered a simple questionnaire regarding orthopedic complaints and underwent a systematic orthopedic physical examination, performed twice: once by an orthopedist and again by a pediatrician. Patients underwent a series of radiographs to diagnose anisomelia, hip dysplasia, epiphysiolysis, flatfoot valgus, mechanical axis varus, and mechanical axis valgus. The radiological diagnosis was considered the gold standard, and the diagnostic capacity of the physical examination performed by each physician was determined. Results: The median age was 6.50 years. Only four patients (18.2%) presented with orthopedic complaints. All patients were diagnosed with at least one musculoskeletal disorder. The only musculoskeletal disorder with a good diagnostic capacity was flatfoot valgus. Limited sensitivity values were found for hip dysplasia, mechanical axis varus, and mechanical axis valgus. The agreement between the orthopedic physical examinations performed by the two examiners was weak, poor, or indeterminate for most of the analyzed items. Conclusions: There was a high prevalence of orthopedic alterations in children with DS who did not present with musculoskeletal complaints. The diagnostic capacity of the physical examination was limited. Therefore, all children with DS should undergo a radiological evaluation of the musculoskeletal system and subsequent specialized orthopedic evaluation. Level of Evidence: Level II (Diagnostic Studies). [ABSTRACT FROM AUTHOR]

This article, titled "Editorial: Innovative approaches and therapeutic perspectives for early-onset neurodevelopmental disorders: from bench to bedside," provides an overview of research on neurodevelopmental disorders (NDDs). The article includes reviews and original research papers on various NDDs, such as Rett Syndrome, Fragile X Syndrome, Down Syndrome, and Prader-Willi Syndrome. The authors discuss innovative treatment approaches, including molecular delivery through nanoparticles and reintroducing functional interneurons. They also explore the challenges of developing preclinical models and the role of specific proteins in the pathophysiology of NDDs. The article emphasizes the need for personalized treatments and the importance of understanding the molecular mechanisms underlying these disorders. [Extracted from the article]

Mental health disorders are prevalent among individuals with intellectual disabilities (ID). However, there is a lack of research on the impact of concomitant autism spectrum disorders (ASD) or attention deficit hyperactivity disorder (ADHD) on the mental health within this population. We aimed to investigate the prevalence of mental health disorders and registered healthcare visits due to self-harm among individuals with ID. We used administrative data for all healthcare with at least one recorded diagnosis of mental health disorder or self-harm during 2007–2017 among people with a diagnosis of Down syndrome (DS; n = 1298) and with ID without DS (IDnonDS; n = 10,671) using the rest of the population in Stockholm Region (n = 2,048,488) for comparison. The highest odds ratios for a mental health disorder were present in females with IDnonDS (9.01) followed by males with IDnonDS (8.50), compared to the general population. The ORs for self-harm among individuals with IDnonDS were high (8.00 for females and 6.60 for males). There were no registered cases of self-harm among individuals with DS. The prevalence of an anxiety or affective disorder was higher among individuals with ID including DS with concomitant ASD or ADHD. Neighbourhood socio-economic status was associated with a lower occurrence of mental health disorders and self-harm in wealthier areas for all outcomes and for all groups. Self-harm and psychiatric comorbidities were common among individuals with ID without DS with an attenuated difference among those with concomitant ASD or ADHD, which calls for attention. [ABSTRACT FROM AUTHOR]

COVID-19 was first reported in December 2019 in Wuhan (Hubei Province, China). Later, the pandemic of this disease took the world by storm, challenging the medical community. Its clinical manifestations vary from asymptomatic to a severe course that requires hospitalization and intensive therapy with oxygen support. The mortality rate in patients with a severe course of COVID-19 can exceed 50% The majority of fatal cases of COVID-19 were associated with thrombotic events, despite the prophylactic use of anticoagulant therapy. Numerous theoretical overviews and research articles indicate the need for genetic testing in patients with COVID-19 to determine the genetic profile of proteins involved in thrombophilia. According to the researchers, the Leiden mutation (G1691A, rs6025) of the FV gene is one of the promising candidates for testing. The aim of the work was to demonstrate the clinical features of the severe course of COVID-19 in the presence of the Leiden mutation. 58 patients with COVID19 of the intensive care unit were genotyped. The Leiden mutation in the heterozygous state was found only in one patient, who had Down syndrome. The Leiden mutation was detected with a frequency of 1.72% in the investigated group. The described clinical case clearly showed that individuals with Down syndrome, associated with hereditary thrombophilia are at risk of undesirable clinical consequences in the treatment of COVID-19. The condition of the patient with the Leiden mutation was severe when admitted to the hospital. The score according to the sequential organ failure assessment scale was 2 points. Bilateral multisegmental pneumonia was detected on the X-ray. On the second day after admission, due to the development of acute respiratory distress syndrome and multiple organ failure, the patient was transferred to the intensive care unit, where he received oxygen therapy through a facial mask. Medical treatment was carried out according to the protocol: non-steroidal anti-inflammatory drugs, antibacterial therapy, anticoagulants, sympathomimetics, and glucocorticosteroids. Despite the medical measures taken, progression of respiratory failure, renal failure, and portal hypertension was noted. On the 11th day, the patient developed asystole. Resuscitation measures were unsuccessful. Thus, the described case of a severe course of COVID-19 in a carrier of a heterozygous variant of the Leiden mutation with Down syndrome confirms the recommendations regarding the need for genetic testing for thrombophilia in high-risk groups and the appointment of personalized measures to prevent complications. [ABSTRACT FROM AUTHOR]

Introduction: Down syndrome (DS) is the most common genetic cause of intellectual disability. Children and adults with DS show deficits in language performance and explicit memory. Here, we used magnetic resonance imaging (MRI) on children and adults with DS to characterize changes in the volume of specific brain structures involved in memory and language and their relationship to features of cognitive‐behavioral phenotypes. Methods: Thirteen children and adults with the DS phenotype and 12 age‐ and gender‐matched healthy controls (age range 4–25) underwent an assessment by MRI and a psychological evaluation for language and cognitive abilities. Results: The cognitive profile of people with DS showed deficits in different cognition and language domains correlating with reduced volumes of specific regional and subregional brain structures, confirming previous related studies. Interestingly, in our study, people with DS also showed more significant parahippocampal gyrus volumes, in agreement with the results found in earlier reports. Conclusions: The memory functions and language skills affected in studied individuals with DS correlate significantly with the reduced volume of specific brain regions, allowing us to understand DS's cognitive‐behavioral phenotype. Our results provide an essential basis for early intervention and the design of rehabilitation management protocols. [ABSTRACT FROM AUTHOR]

The latest study with whole genome sequencing (WGS) in pediatric B-ALL validated its use as a standalone test to detect underlying clinically significant genetic abnormalities (Rezayee et al., 2023). This was a retrospective molecular survey in bone marrows previously collected and stored from 88 patients who were enrolled in NOPHO trials. The testing was done through 150 bp paired-end WGS applied to a paired analysis of leukemia-germline samples (L-N) (n=64), and to the analysis of leukemia-only samples (L) (n=88). The results demonstrated a full concordance between both WGS approaches and between the results from WGS and previous standard of care tests (SOCTs). All the mandatory aberrations that require testing in the current ALLTogether trial protocol were identified in 38 patients. In addition, WGS accurately identified the majority of aberrations characteristic of B-other ALL (35/36 cases), copy number abnormalities (CNAs) in eight critical genes or regions, CNAs that characterize the IKZF1plus profile, and the abnormalities in patients with Down syndrome. An adapted methodology was necessary for the detection of DUX4::IGH rearrangements in four patients. A comparison between sequencing coverages of 90X and 30X demonstrated that a lower 30X coverage was sufficient to detect all the relevant abnormalities. This successful testing was accomplished through filtering of WGS data focusing on just genes and genomic regions that are routinely implicated in pediatric B-ALL. As a result, it simplified the extraction of data and facilitated the interpretation of results. Overall, the precise identification of abnormalities that was accomplished by WGS allowed the assignment of patients to distinct genetic subtypes. The conclusion of this study was that WGS is quite reliable and can replace the use of SOCTs to profile pediatric B-ALL. [ABSTRACT FROM AUTHOR]

Down Syndrome (DS) is a common chromosomal disorder that is associated with multiple anomalies in different organ systems. Cardiac anomalies are frequently observed in individuals with DS, and as patients with Congenital Heart Disease (CHD) are at an increased risk of developing complications related to anaesthesia during the perioperative and postoperative periods, it is crucial to pay attention to the anaesthetic management of DS patients undergoing corrective surgery for cardiac anomalies. Complete Atrioventricular Septal Defects (CAVSD) are the most prevalent cardiac defects in DS patients, followed by isolated ventricular septal defects, atrial septal defects, patent ductus arteriosus, and tetralogy of Fallot. This case report focuses on the anaesthetic management of a one-year-old female with DS who was diagnosed with a combination of Atrioventricular Septal Defects (AVSDs) and patent ductus arteriosus. Due to the concurrent diagnosis of hypothyroidism, the case required a thorough preanaesthetic examination and meticulous attention to perioperative anaesthetic management, considering factors such as airway difficulty, cervical spine instability, ligament laxity, and susceptibility to infections. The patient underwent cardiac surgery following a standard anaesthetic protocol, and the procedure was well tolerated. After the surgery, she was transferred to the Intensive Care Unit (ICU). The postoperative period was uneventful, and the patient was discharged on the eighth postoperative day. [ABSTRACT FROM AUTHOR]

Background: Apolipoprotein E (APOE) is a form of polymorphic protein located on the long arm of chromosome 19 at position 13.2 (19q13.2), translated into three alleles of the gene, namely normal allele 3 and dysfunctional allele 2 and 4. Patients with Down's Syndrome Trisomy 21 may have different allele frequencies and combinations of APOE gene genotypes with controls, which can result in decreased cognitive function and inhibition of bone growth. This study aims to analyze the relationship of the Apolipoprotein E Gene Allele with the height of patients with Down Syndrome Trisomy 21. Methods: This research is a cross sectional study with a comparative cross-sectional study design. Results: The sample used was the result of DNA extraction of patients with Down's Syndrome Trisomy 21 as many as 33 samples and 33 controls stored in the Biomedical Laboratory, Faculty of Medicine, Andalas University, Padang, Indonesia. The next step is to examine the APOE gene polymorphisms using PCR and sequencing techniques. The results showed that there was a significant relationship between the APOE gene allele and height (p=0.009). Conclusion: This study concluded that there was a significant relationship between the APOE gene allele and the height of patients with Down Syndrome Trisomy 21. [ABSTRACT FROM AUTHOR]

This case note considers the role of section 48 orders under the Mental Capacity Act 2005 following the decision by Mostyn J in A Local Authority v LD and RD [2023] EWHC 1258 (Fam). The case concerned an application for removal from home for a man in his 40s with learning disability, autism and Down's Syndrome for the purposes of assessment of mental capacity. The case note considers the role and function of interim orders under section 48 as well as the wider problem of removing adults from their own home in the name of safeguarding. [ABSTRACT FROM AUTHOR]

Introduction: Down syndrome is the most common genetic cause of intellectual disability, and the use of augmented reality can be improving the cognitive, motor, and literacy skills of this population. Objective: to compare statistical differences in learning between individuals with Down syndrome and individuals with typical development using augmented reality games. Methods: we compared the reaction time before and after the virtual reality tasks, in addition to the performance in these tasks, which consisted of correctly identifying numbers and letters in 46 people with Down syndrome and 46 controls with typical development. Results: our results indicate that the total points for the typical development group were higher (M = 13.0 and 11.9) when compared to the Down syndrome group (M = 6.6 and 4.6) for letters of the alphabet and numbers, respectively. Furthermore, the results indicated that participants in both groups were more accurate in identifying alphabetic symbols when compared to numerical symbols, and both groups were sensitive to the number of symbols presented in each phase. The down syndrome group had a lower performance when compared to the typical development group. Conclusion: despite the need for further studies, our results support the outcome that there is clinical utility of an intervention based on virtual reality tasks for people with Down syndrome. In conclusion, the use of this technology to improve the reaction time of this population is considered useful. [ABSTRACT FROM AUTHOR]

Down syndrome, also known as trisomy 21, is associated with congenital cervical spine abnormalities, including atlantoaxial instability with or without os odontoideum, atlanto-occipital instability, and hypoplasia of the atlas. Herein, we report a case of Down syndrome complicated by congenital atlanto-occipital dislocation. The patient presented with severe cervical myelopathy at 13 years of age after a 10-year follow-up. Radiography and computed tomography revealed os odontoideum protruding into the foramen magnum and congenital anterior atlanto-occipital dislocation. Additionally, a bifurcated internal occipital crest with a thinned central portion of the occipital bone was noted. Magnetic resonance imaging revealed kyphotic alignment of the spinal cord with severe compression at the foramen magnum level. As the neurological impairment was partially improved by halo vest immobilization, we performed in situ O-C2 fusion with an iliac autograft and decompression of the foramen magnum and posterior arch of C1. An improvement was observed immediately after surgery. Two years after surgery, radiography and computed tomography showed solid O-C2 segment fusion. The accumulation of similar cases is essential for determining the prognosis or optimal treatment for this rare congenital condition. [ABSTRACT FROM AUTHOR]

Background: Improved health care for people with Down syndrome (DS) has resulted in an increase in their life expectancy therefore increasing comorbidities associated with age-related problems in this population, the most frequent being Alzheimer's disease (AD). To date, several cognitive tests have been developed to evaluate cognitive changes related to the development of mild cognitive impairment (MCI) and AD in people with DS. Objective: Identify and evaluate available cognitive tests for the diagnosis of MCI and AD in people with DS. Methods: A systematic search of the Pubmed and PsycInfo databases was performed to identify articles published from January 1, 2000 and July 1, 2022. Keysearch terms were DS, AD or MCI, cognition, and assessment. Relevant studies assessing the diagnostic accuracy of cognitive tests for AD or MCI with standard clinical evaluation were extracted. Risk of bias was assessed using the QUADAS 2. Results: We identified 15 batteries, 2 intelligence scales, 14 memory tests, 11 executive, functioning tests, 11 motor and visuospatial functioning tests, 5 language tests, 3 attention tests, and 2 orientation tests. Analysis showed that the CAMCOG-DS present a fair to excellent diagnostic accuracy for detecting AD in patients with DS. However, for the diagnosis of MCI, this battery showed poor to good diagnostic accuracy. Conclusion: The findings highlight important limitations of the current assessment available for the screening of mild cognitive impairment and AD in patients with DS and support the need for more clinical trials to ensure better screening for this highly at-risk population. [ABSTRACT FROM AUTHOR]

Objective: Dental treatment for Down's syndrome is often carried out under general anesthesia due to the difficulty of cooperation, excessive dental procedures, and accompanying systemic diseases. The risk of endocarditis can be avoided by maintaining good oral hygiene, preventing tooth decay and administering prophylactic antibiotics before some dental treatments. Material and Method: Down Syndrome patients underwent dental treatment under general anesthesia were evaluated retrospectively. General anesthesia method, demographic variables, ASA scores, Oral Hygiene Index, Frankl scale, Houpt Scale, systemic diseases of the patients, antibiotic prophylaxis and dental treatments were examined as data. Results: Female/male ratio was 62/51, mean age was 14.14±10.28. Most patients were ASA II with 67.3%. The oral hygiene index was poor (%38). While 84.81% of the patients were sedated, 15.2% were given general anesthesia. Tooth extraction with tooth filling was the most performed dental treatment. The most common systemic disease was of cardiac origin. Antibiotic prophylaxis was administered to 82 of the patients. Conclusion: To treat patients with Down Syndrome, frequent use of general anesthesia and sedation, as well as frequent antibiotic prophylaxis, is required. In terms of these applications, it is necessary to create a treatment plan with the least risk to the patient. [ABSTRACT FROM AUTHOR]

Objective: We report the orthodontic treatment of a class II malocclusion with anterior open bite and posterior crossbite in a patient with Down syndrome (DS) treated with mini‐implants. Methods: Treatment began with rapid maxillary expansion with a Haas appliance, followed by dental alignment and leveling with a fixed appliance and the correction of class II dental relationships with the use of orthodontic mini‐implants associated with a sliding jig. Results: The results obtained at the end of the treatment were satisfactory, with improvements in occlusion, including bite closure; maxillary expansion; and the correction of dental relationships. Conclusion: When well‐planned, orthodontic treatment in a patient with DS achieves satisfactory results from a skeletal, occlusal, and facial perspective. [ABSTRACT FROM AUTHOR]

Copyright of Human Resource Management / Zarzadzanie Zasobami Ludzkimi is the property of Institute of Labour & Social / Instytut Pracy i Spraw Socjalnych and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Objectives: We critically review research findings on the unique changes in brain structure and cognitive function characteristic of Down syndrome (DS) and summarize the similarities and differences with other neurodevelopmental disorders such as Williams syndrome, 22q11.2 deletion syndrome, and fragile X syndrome. Methods: We conducted a meta-analysis and systematic literature review of 84 studies identified by searching PubMed, Google Scholar, and Web of Science from 1977 to October 2022. This review focuses on the following issues: (1) specific neuroanatomic and histopathological features of DS as revealed by autopsy and modern neuroimaging modalities, (2) language and memory deficits in DS, (3) the relationships between these neuroanatomical and neuropsychological features, and (4) neuroanatomic and neuropsychological differences between DS and related neurodevelopmental syndromes. Results: Numerous post-mortem and morphometric neuroimaging investigations of individuals with DS have reported complex changes in regional brain volumes, most notably in the hippocampal formation, temporal lobe, frontal lobe, parietal lobe, and cerebellum. Moreover, neuropsychological assessments have revealed deficits in language development, emotional regulation, and memory that reflect these structural changes and are more severe than expected from general cognitive dysfunction. Individuals with DS also show relative preservation of multiple cognitive, linguistic, and social domains compared to normally developed controls and individuals with other neurodevelopmental disorders. However, all these neurodevelopment disorders exhibit substantial heterogeneity among individuals. Conclusion: People with Down syndrome demonstrate unique neurodevelopmental abnormalities but cannot be regarded as a homogenous group. A comprehensive evaluation of individual intellectual skills is essential for all individuals with neurodevelopment disorders to develop personalized care programs. [ABSTRACT FROM AUTHOR]