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In infants, anomalous vessels from the aortic arch are often diagnosed as patent ductus arteriosus or bronchial arteries. We present the case of a 22-day-old female with trisomy 21, found to have a blind-ended aneurysmal vessel originating from the descending aorta. Echocardiography revealed bidirectional flow and computed tomography confirmed the aneurysm without peripheral vessel connection. Since the vessel was not connected to the pulmonary artery and did not course along the peripheral bronchi, we diagnosed the vessel as a blind-ended major aortopulmonary collateral artery. The vessel was treated with catheter embolization using an Amplatzer vascular plug (Abbott Laboratories, Chicago, IL, USA)., Competing Interests: Human subjects: Consent for treatment and open access publication was obtained or waived by all participants in this study. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work., (Copyright © 2024, Yonaga et al.)

Résumé: L'augmentation de l'espérance de vie des personnes porteuses d'une trisomie 21 (PPT21) s'accompagne de nouvelles problématiques telles que le déclin cognitif lié au vieillissement et le dépistage/diagnostic de la maladie d'Alzheimer (MA). À travers une revue de la littérature, cet article recense les principaux outils existants pour l'évaluation neuropsychologique de cette population. À partir des bases de données PsycINFO, PubMed, Web of Science, Wiley et le moteur de recherches Google Scholar, ont été inclus dans l'étude les articles publiés de juillet à décembre 2020, concernant les PPT21 d'âge supérieur ou égal à 18 ans et contenant des échelles d'évaluation cognitive. Quatre-vingt-cinq articles ont été sélectionnés qui comprenaient 186 outils d'évaluation. La quasi-totalité de ces épreuves n'a toutefois pas fait l'objet de validation en langue française et moins d'un tiers étaient spécifiquement conc¸us pour une évaluation diagnostique de la MA chez des PPT21. L'objectif de cette revue est de souligner la nécessité de développer des outils neuropsychologiques spécifiques pour le diagnostic de MA chez les PPT21, validés en langue française. Improvement of life expectancy in people with Down syndrome (DS) is associated with new problems such as cognitive decline associated with aging and screening/diagnosis for Alzheimer's disease (AD) in this population. The aim of this review is to identify the main tools used in the literature for the cognitive evaluation in this population. Research was conducted on PsycINFO, PubMed, Web of Science and Wiley databases and Google Scholar from July to November 2020, concerning persons with DS, aged of 18 years or more, and evaluated with cognitive assessment scales.196 assessment tools were identified among the 85 articles included. However, most tools had not been validated in French, and only one third were specifically designed for a diagnosis of AD in people with DS. These results underline the need to develop specific tools for the diagnosis of AD in people with DS and validated in French. [ABSTRACT FROM AUTHOR]

Patients with Down's syndrome (DS) are generally regarded as not being good candidates for the Fontan procedure. However, detailed hemodynamic changes over time are not fully clarified. A retrospective chart review of all patients with DS who underwent the Fontan procedure and 5 times that number of Fontan patients without DS performed in Fukuoka Children's Hospital and Kyushu University Hospital. Seven Fontan patients with DS were identified, and 35 Fontan patients without DS were recruited. During the mean observational periods of 14.7 years and 15.0 years (DS and non-DS, respectively) after the Fontan procedure, only one DS patient died. Central venous pressure (CVP) and transpulmonary pressure gradient significantly increased, and arterial oxygen saturation significantly decreased over time in DS patients after the Fontan procedure compared with those without DS. CVP in DS patients after the Fontan procedure increased over time compared with non-DS patients. Better management including the efficacy of Pulmonary arterial hypertension-specific therapy should be clarified in further studies. [ABSTRACT FROM AUTHOR]

Copyright of Scire Salutis is the property of CBPC - Companhia Brasileira de Producao Cientifica 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.)

The present study, of a bibliographic nature, aims to identify how the inclusion of students with Down Syndrome occurs in Physical Education classes. From this initial concern, the work comes to contribute to the reflection on this theme, because in addition to some difficulties found in the inclusion of children with DS in the regular teaching environment in the country, there is a lack of preparation of schools and teachers. With this, the article presents the importance and the need of the school community, as a whole, to seek new knowledge and strategies to better serve their students, providing them with a range of motor, cognitive and social experiences, always taking into account the abilities of each to enable development. [ABSTRACT FROM AUTHOR]

Down's syndrome (DS), a common chromosomal disease caused by chromosome 21 trisomy, is the main cause of cognitive impairment in children worldwide. Emerging evidence suggests that the microbiota–gut–brain axis plays a potential role in cognitive impairment. However, data regarding gut microbiota alterations in DS patients remain scarce, especially data from children with DS. This case–control study was conducted to explore the gut microbiota composition in Chinese DS children. Additionally, the potential association between gut microbiota and cognitive function in DS was evaluated. Microbiota communities in the feces of 15 DS subjects and 15 matched controls were investigated using high-throughput Illumina Miseq sequencing targeting the V3–V4 region of 16S rRNA gene. The relationships between gut microbiota composition and DS cognitive function scores were analyzed. The structure and richness of the gut microbiota differed between DS patients and healthy controls. The abundance of Acidaminococcaceae was decreased in DS patients. Moreover, the Kyoto Encyclopedia of Genes and Genomes analysis showed increased modules related to peptidases and pyrimidine metabolism. Overall, we confirmed that gut microbiota alterations occurred in Chinese patients with DS. Additionally, the fecal microbiota was closely related to DS cognitive impairment. Larger cohorts are needed to confirm these findings and to clarify the mechanisms involved. Elucidating these novel findings in the field of microbiota-gut-brain axis will provide a promising strategy for future studies of DS cognitive impairment. [ABSTRACT FROM AUTHOR]

Down's syndrome is one of the most common human congenital genetic diseases and affected patients have increased risk of periodontal disease. To examine involvement of the disease with periodontal disease development, we established immortalized periodontal ligament cells obtained from a Down's syndrome patient by use of SV40T-Ag and hTERT gene transfection. Expressions of SV40T-Ag and hTERT were observed in periodontal ligament cell-derived immortalized cells established from healthy (STPDL) and Down's syndrome patient (STPDLDS) samples. Primary cultured periodontal ligament cells obtained from a healthy subject (pPDL) had a limited number of population doublings (< 40), while STPDL and STPDLDS cells continued to grow with more than 80 population doublings. Primary cultured periodontal ligament cells obtained from the patient showed a chromosome pattern characteristic of Down's syndrome with trisomy 21, whereas STPDLDS samples showed a large number of abnormal chromosomes in those results. Gene expression analysis revealed that expression of DSCR-1 in STPDLDS is greater than that in STPDL. These results suggest that the newly established STPDLDS cell line may be a useful tool for study of periodontal disease in Down's syndrome patients. [ABSTRACT FROM AUTHOR]

Copyright of Man - Disability - Society / Człowiek – Niepełnosprawność – Społeczeństwo is the property of Akademia Pedagogiki Specjalnej im Marii Grzegorzewskiej 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.)

ABSTRACT Purpose: to assess the effect of an intervention on educational teams’ attitudes and academic expectations concerning the inclusion of students with Down’s Syndrome (DS), in Chile. Methods: a quasi-experimental single-group study was carried out, with an interdisciplinary pilot intervention held comprising three workshops on inclusive education for teachers and teaching assistants. The Attitudes Towards and Academic Expectations For Down’s Syndrome Students questionnaire (CAEASD in Spanish) was used to assess these variables pre- and post-intervention. Results: 48 subjects participated in this study, with 37 in the experimental group and 11 in the control group. No significant differences were observed in the overall CAEASD score, neither before nor after the intervention (p=0.388). However, in the actions part of the attitude component, there was a significant difference in the experimental group (p

Abstract Rectal stenosis is a rare variety of rectal atresia. A membrane separates the rectum from the anal canal in the presence of a normal anus. We report a case of rectal stenosis associated with Down's syndrome and hypothyroidism in whom rectal stenosis was diagnosed at the age of 17 years.

Copyright of Al-Adab / Al-ādāb is the property of Republic of Iraq Ministry of Higher Education & Scientific Research (MOHESR) 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.)

Copyright of Retos: Nuevas Perspectivas de Educación Física, Deporte y Recreación is the property of Federacion Espanola de Asociaciones de Docentes de Educacion Fisica 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.)

This article presents findings of a qualitative research study evaluating interviews with eight parents about their experience of discovering their child has Down's Syndrome. The article presents five themes emerging from a qualitative research study using Interpretative Phenomenological Analysis (IPA) as an evaluation method. The themes comprise what it is that makes a life worth living, the loss of an illusion, the language we use to speak about learning disability, the myths that surround it and wider issues of belonging. The diagnosis of a child with Down's Syndrome confronts parents with neoliberal values, that are underpinned by the idea that happiness and fulfilment are derived from independence, success and economic productivity. As a learning disabled child is welcomed into the family, an opportunity is presented to question our assumptions and beliefs about learning disability, to re-evaluate what we mean by normal, to challenge neoliberal values and to imagine disability differently. This article illustrates the complex issues that arise for parents on the diagnosis of a baby with Down's syndrome. The arrival of a learning-disabled child in the family is an opportunity to challenge neoliberal ideas that equate happiness and fulfilment with independence and economic productivity. The interviews illustrate how an experience of welcoming a child with Down's Syndrome into the family can offer opportunities for personal growth. It can be hard to find a language to speak about learning disability and the language available to us reflects a complicated history of how learning disability is perceived. Listening to the experience of loss shared by parents of children with Down's Syndrome can help us connect to the uncertain futures of all children in a precarious world. To imagine disability differently involves perceiving difference itself as an opportunity to discover new ways of participating in communities. [ABSTRACT FROM AUTHOR]

• Dorsal thalamocortical interactions influence essential cognitive functions. • MD thalamocortical interactions support rapid learning and adaptive decision-making. • MD thalamocortical interactions are critical for updating established choice response strategies. • ATN thalamocortical interactions support spatial coding in subicular complex and entorhinal cortex. • ATN head direction signals are processed differently in retrosplenial and entorhinal cortex. The mediodorsal thalamus (MD) and anterior thalamic nuclei (ATN) are two adjacent brain nodes that support our ability to make decisions, learn, update information, form and retrieve memories, and find our way around. The MD and PFC work in partnerships to support cognitive processes linked to successful learning and decision-making, while the ATN and extended hippocampal system together coordinate the encoding and retrieval of memories and successful spatial navigation. Yet, while these distinctions may appear to be segregated, both the MD and ATN together support our higher cognitive functions as they regulate and are influenced by interconnected fronto-temporal neural networks and subcortical inputs. Our review focuses on recent studies in animal models and in humans. This evidence is re-shaping our understanding of the importance of MD and ATN cortico-thalamocortical pathways in influencing complex cognitive functions. Given the evidence from clinical settings and neuroscience research labs, the MD and ATN should be considered targets for effective treatments in neuropsychiatric diseases and disorders and neurodegeneration. [ABSTRACT FROM AUTHOR]

This article is the result of a master's research, in which the objective was to identify whether and how the elementary school teacher uses pedagogical strategies and resources to work on the construction of the concept of numbers in students with Down syndrome. The research was performed in two public schools, with the participation of two teachers, a tutor, and two students with Down syndrome. The research was designed toidentify, describe, and systematize the teaching strategies and pedagogical resources that encourage students to build the concept of numbers. The research revealed gaps in strategies to show the creation of relations with numbers and their functions, as well as difficulties in the implementation of strategies as a way to enhance mathematical literacy. [ABSTRACT FROM AUTHOR]

Rectal stenosis is a rare variety of rectal atresia. A membrane separates the rectum from the anal canal in the presence of a normal anus. We report a case of rectal stenosis associated with Down's syndrome and hypothyroidism in whom rectal stenosis was diagnosed at the age of 17 years. [ABSTRACT FROM AUTHOR]

Background Parental consanguinity affects the pattern of congenital heart defects (CHDs). The association between Down's syndrome (DS) and congenital heart defects has long been known. Parental consanguinity may affect the pattern of CHDs. Some communities in Afghanistan have a high consanguineous marriage rate, possible affecting the types of CHDs in children with DS. Objective To determine the frequency and distribution of CHDs in children with Down's syndrome in Afghanistan, where the community had a high consanguineous marriage rate. Methods This prospective cross-sectional study was conducted in Maiwand Hospital, a pediatric teaching hospital in Kabul, Afghanistan. Subjects were children with DS shown by clinical and cytogenetic studies, and referred to the Pediatric Cardiology Service from September 2018 - September 2020. Parental consanguinity was documented. Subjects underwent 2D echocardiography and Doppler studies performed by two experienced pediatric cardiologists after physical examination, ECG, and chest X-ray. Results During the two-year study period, 120 DS patients were identified, 78 (65%) of whom had CHDs. The prevalences of isolated and multiple CHD in the 78 children with DS were 35.8% (43 patients) and 29.1% (35 patients), respectively. The most common isolated defects were ventricular septal defect (21.7%) and atrial septal defect (15.3%). The most com-mon CHD associations were VSD + PDA (20.5%) and VSD + ASD (10.2%). Consanguinity was found in 69.2% of all parents. Conclusion A higher frequency of CHD is documented in DS children from parents with a high consanguineous marriage rate. The frequencies of specific lesions are similar to those reported locally and internationally; VSD is the most frequently detected in our study. The predominance of left-right shunt lesions and the relative rarity of cyanotic and complex CHD are notable in this DS population. [ABSTRACT FROM AUTHOR]

Objective. Pyloric atresia is a rare malformation, with an incidence of 1:100,000 live newborns. Male to female ratio is 1/1. Typically, it is an isolated malformation, with a good prognosis, but 20-40% of cases present epidermolysis bullosa, and to a lesser extent, multiple intestinal atresias. We present the case of a pre-term newborn prenatally diagnosed with polyhydramnios, duodenal atresia with "double bubble" sign, and suspected Down's syndrome, who eventually had pyloric atresia. [ABSTRACT FROM AUTHOR]

INTRODUCTION: Down syndrome (DS) is also known as trisomy 21, is a genetic disorder caused by defect in chromosome 21. It is the most commonly diagnosed congenital malformation/mental retardation syndrome. DS individuals have greater risk of many systemic conditions like epilepsy, diabetes, leukemia, hypothyroidism and upper respiratory tract infections. Advances in medical field have increased the mean survival rate of these individuals. The dentist should able to diagnose the oral manifestations in DS patients and improve the quality of life of these individuals. AIMS AND OBJECTIVES: The present study was designed to assess the oral and perioral features of DS patients and to compare age and gender wise distribution of these findings. MATERIALS AND METHODS: Total of 100 DS patients were included in the study from special school in western part of Maharashtra. The clinical examination was carried out to record perioral, intraoral hard and soft tissue features in a predesigned proforma. The frequency and percentage distribution of these features were compared between the gender and age groups. RESULTS: Out of 100 DS patients majority were males (63%). Fissured tongue was the most common (73%) intraoral feature present. Constricted palate was present in 59% of cases, Angles class III malocclusion was the most common occlusion abnormality present in these patients. CONCLUSION: Majority of patients affected with DS were males and fissured tongue was the most common soft tissue feature present in these individuals.

The exponential increase in world population and average human lifespan is expected to result in geriatric population globally. The problem of preventable blindness due to cataract will increase manifold. Simultaneous Bilateral cataract surgery (SBCS) is a viable option in such subset of patients. Despite faster visual recovery, economic benefits to patients and health care providers, decreased risk of complications associated with General anaesthesia, there is significant resistance in accepting SBCS as a routine procedure. Bilateral endophthalmitis is the main deterrent in performing ISBCS. This case highlights successful ISBCS in 36 years old female patient with Down's syndrome. [ABSTRACT FROM AUTHOR]

Abstract Introduction People with Down's syndrome (DS) have a high prevalence of early‐onset Alzheimer's disease. Early markers of Alzheimer's disease pathology identifiable before clinical change are needed for the evaluation of preventative treatments. The retina, an extension of the brain, may provide a noninvasive imaging site. Methods Forty‐nine adults with DS and 36 age‐matched controls completed retinal nerve fibre layer (RNFL) assessments using optical coherence tomography. RNFL thickness was analyzed in relation to cognitive status and age and previously acquired cortical thickness and cerebral amyloid β binding data in a subgroup. Results RNFL thickness was greater in the DS group and did not show age‐related thinning. RNFL correlated positively with cognitive scores and cortical thickness and was reduced in participants with positive cerebral amyloid β binding. Discussion Increased RNFL in adults with DS may represent early Alzheimer's disease–related changes. Thinning was present in those with cerebral amyloid β binding, independent of age.

Down syndrome (DS) is characterised by abnormal cognitive and motor development, and later in life by progressive Alzheimer's disease (AD)-like dementia, neuropathology, declining motor function and shorter life expectancy. It is caused by trisomy of chromosome 21 (Hsa21), but how individual Hsa21 genes contribute to various aspects of the disorder is incompletely understood. Previous work has demonstrated a role for triplication of the Hsa21 gene DYRK1A in cognitive and motor deficits, as well as in altered neurogenesis and neurofibrillary degeneration in the DS brain, but its contribution to other DS phenotypes is unclear. Here we demonstrate that overexpression of minibrain (mnb), the Drosophila ortholog of DYRK1A, in the Drosophila nervous system accelerated age-dependent decline in motor performance and shortened lifespan. Overexpression of mnb in the eye was neurotoxic and overexpression in ellipsoid body neurons in the brain caused age-dependent neurodegeneration. At the larval neuromuscular junction, an established model for mammalian central glutamatergic synapses, neuronal mnb overexpression enhanced spontaneous vesicular transmitter release. It also slowed recovery from short-term depression of evoked transmitter release induced by high-frequency nerve stimulation and increased the number of boutons in one of the two glutamatergic motor neurons innervating the muscle. These results provide further insight into the roles of DYRK1A triplication in abnormal aging and synaptic dysfunction in DS.

Background: The aim of this study was to assess the diet of children with Down syndrome (DS) and to identify potential dietary mistakes made by their parents. Materials and methods: The study was conducted among 195 parents of people with DS between November 2020 and March 2021. Data for the study were collected anonymously using the CAWI method. Results: 122 (62.6%) people with DS did not eliminate any nutrient from their diet. By contrast, in the study group, the following numbers of people reported the following dietary restrictions: 51 (26.2%) gluten, 56 (28.7%) lactose, 17 (8.7%) casein, 26 (13.3%) sucrose, 2 (1.0%) histamine, 2 (1.0%) lectins, and 1 (0.5%) dairy. The most frequent response for vegetable and fruit consumption was once a day, with 83 (42.6%) and 87 (44.6%) parents indicating this. The most frequent response for dairy product consumption was every day, with 72 (36.9%) parents indicating this, while 36 (20%) parents stated that their children do not eat dairy products at all. In the study group, the most frequent response for meat consumption was several times a week, this was indicated by 107 (54.9%) parents, while 1 (0.5%) of them said that their children do not eat meat products at all. The most frequent response for fish consumption was 1–2 times a week, this answer was indicated by 101 (51.8%) parents, while 13 (6.7%) said that their children do not eat these products at all. Conclusions: A majority of the subjects with DS are usually fed in a normal way, but nutritional mistakes are made by the parents. Special attention should be paid to prolonging the period of natural feeding.

Down's syndrome (DS) is one of the most commonly known disorders with multiple congenital disabilities. Besides severe cognitive impairment and intellectual disability, individuals with DS also exhibit additional phenotypes of variable penetrance and severity, with one or more comorbid conditions, including Alzheimer's disease, congenital heart disease, or leukemia. Various vital genes and regulatory networks had been studied to reveal the pathogenesis of the disease. Nevertheless, very few studies have examined alternative splicing. Alternative splicing (AS) is a regulatory mechanism of gene expression when making one multi-exon protein-coding gene produce more than one unique mature mRNA. We employed the GeneChip Human Transcriptome Array 2.0 (HTA 2.0) for the global gene analysis with hiPSCs from DS and healthy individuals. Examining differentially expressed genes (DEGs) in these groups and focusing on specific transcripts with AS, 466 up-regulated and 722 down-regulated genes with AS events were identified. These genes were significantly enriched in biological processes, such as cell adhesion, cardiac muscle contraction, and immune response, through gene ontology (GO) analysis of DEGs. Candidate genes, such as FN1 were further explored for potentially playing a key role in DS. This study provides important insights into the potential role that AS plays in DS.

Objective: This case-control study was conducted to determine the distribution of cleft lip and/or palate, its association with family history, syndromes and serous otitis media (SOM), and its relation with several risk factors. Methods: The case group comprised of 133 children born with cleft lip and/or palate, and the control was 133 non-cleft children born full-term. Data was collected including age, gender, origin and risk factors for cleft lip and palate from patients’ files, interviewing supervising doctors, and the patient. Data was then filled out into Excel and underwent statistical analysis using the Goodness of Fit Test and Chi-Square to determine the significance of the results. Results: Cleft lip and/or palate (CL/P) was slightly higher among males (51.9%). Combined cleft lip and palate (CLP) was the most common presentation (42.1%). Cleft lips (CL) were mostly complete cleft (51,5%) incomplete cleft comprised (41.1%), In the sample 35.4% of the cases were bilateral, 32.3% were right unilateral, 28.3% were left unilateral and 4% were median cleft. Cleft palate (CP) was mostly complete (46.6%) there were incomplete clefts (40%), and the remainder were submucosal (13.4%). Isolated CL and combined CLP were higher in males (51.6%, 62.5% respectively). Both isolated CP and Tessier anomaly were more common in females (64.7% and 58.3% respectively). consanguineous marriages accounted for 36.1% of cases. 21.8% of the sample had a first-degree relative and 24.8% had a second degree relative born with CL/P. There were only 7 cases (0.05%) of syndromic CL/P: Down's (4), Pierre Robin's (2), and Van der Woude Syndrome (1). A relationship was found between CL/P and the risk factors: taking anticonvulsants (without specifying the drug) (p = 0.025, OR = 10.73 C.I. 95%), taking retinoic acid (p-value = 0.049, OR = 4.75 C.I. 95%), not consuming folic acid (p-value = 0.00, OR = 28.23 C.I. 95%), and smoking cigarettes (p-value = 0.046, OR = 2.00 C.I. 95%). There was no relationship with maternal alcohol consumption or maternal diabetes (p-values = 0.652 and 0.210, respectively). SOM was present in 63.2% of patients with CL/P and were mostly isolated CP. Conclusion: CL/P was only slightly higher among males. The most common condition was CLP. There was higher incidence of CL/P among second-degree relatives than first degree. Down's, Pierre Robin's, and Van der Woude Syndromes may be associated with CL/P. Taking anticonvulsants, taking retinoic acid, not consuming folic acid, and smoking cigarettes all have a role in the incidence of CL/P. More than half of the sample had an associated SOM.

El sistema educativo colombiano después de los 14 años de edad se desentiende de las personas con Síndrome de Down, las cuales son propensas a desarrollar enfermedades crónicas no transmisibles por los altos grados de sedentarismos. Un ejemplo es el municipio de Sincelejo, Sucre, Colombia, donde son excluidos de las clases de educación física. La Fundación para el Síndrome de Down (FUNDISDOWN), ubicada en dicho municipio, encargada de realizar actividades diarias, tiene un bajo componente de actividad física. Este estudio tiene como objetivo elaborar un sistema educativo de actividad física agua y tierra que transforme la condición física de estos jóvenes. Los métodos modelación, enfoque de sistema, triangulación de información y el análisis de contenido de la Batería Eurofit adaptada y aplicada en conjunto con estudiantes universitarios del programa de Ciencias del Deporte, permitieron analizar el estado actual de la condición física y elaborar el sistema. La muestra intencional fue de 21 jóvenes con síndrome de Down de ambos sexos. El diagnóstico de la situación actual de la condición física tiene valores deficientes. El sistema educativo de actividad física se crea como alternativa de solución a las deficiencias encontradas. Se hacen aportes desde la teoría educativa de la actividad física para el trabajo con estos jóvenes, se define el estado actual de la condición física y se potencia un sistema educativo como resultado del diagnóstico que se valida desde su factibilidad, aplicabilidad y potencialidad práctica donde después de una aplicación de tres meses se mejoran algunos indicadores físicos y educativos. Abstract: People with Down syndrome are prone to develop chronic noncommunicable diseases due to high degrees of sedentary lifestyle. The Colombian educational system after 14 years ignores them. In the municipality of Sincelejo, Sucre, Colombia, they are excluded from physical education classes. The Foundation for Down Syndrome (FUNDISDOWN) is responsible for carrying out daily activities that have a low component of physical activity. The objective of this study is to develop an educational system of water and land physical activity that transforms the physical condition of these young people. The methods modeling, system approach, triangulation of information and content analysis in conjunction with the Eurofit Battery, allowed to analyze the current state of physical condition and develop the system. Descriptive inferential statistics was used with the SPSS 24.0 software for the analysis of the results. The intentional sample was of 30 young people with Down syndrome of both sexes. The diagnosis of the current situation of the physical condition has deficient values. The educational system of physical activity is created as an alternative solution to the deficiencies found. Contributions are made from the educational theory of physical activity to work with these young people, the current state of physical condition is defined and an educational system is strengthened as a result of the diagnosis that is validated from its feasibility, applicability and practical potential where after from a three-month application some physical and educational indicators will be improved.

Individuals with Down's syndrome rely on caregivers to support lifestyle behaviour change. It is therefore important to understand how caregivers put health recommendations into practice. Through conducting semi-structured interviews, the present study sought to understand the facilitators and barriers that caregivers faced when implementing health promotion advice. Five interviews were conducted with paid support staff and four with family carers of individuals attending a specialist multidisciplinary Down's syndrome health promotion screening clinic. Three main themes emerged in their accounts, including active promotion of weight management by caregivers, benefits of working practices such as record keeping and communication channels and the importance of having access to social care services and recreational activities. These findings have important implications for professionals working in specialised healthcare settings who may be able to tailor communication and services to better meet the needs of individuals with Down's syndrome and their caregivers. [ABSTRACT FROM AUTHOR]

Children with acute and chronic associated medical conditions often present for surgical and radiological procedures. An understanding of the implications of these conditions for anaesthesia is important for preventing perioperative adverse events. In this article, we outline the relevant clinical features of some of the commonly encountered associated medical conditions and provide guidance on the current evidence for the perioperative anaesthetic management of these children. [ABSTRACT FROM AUTHOR]

Down syndrome (trisomy 21) is a common identifiable cause of intellectual disability. People with Down syndrome are individuals, and while there are many shared characteristics, there is considerable variability in how the syndrome manifests. Understanding the condition and its impact on individual lives can help maintain and promote health, and enable individuals to achieve their potential. There are some conditions that are more frequently seen in individuals with Down syndrome, and as such it is important not to fall into the trap of labelling all symptoms as 'part of Down syndrome'. Awareness of some of the more frequently seen conditions will help in understanding and aid timely investigation and management - enabling individuals to access the support and care they need. In this article, we focus on our role as health professionals in supporting families, children and young people with Down syndrome. We describe some of the conditions seen more commonly in individuals with Down syndrome and our role in screening, identification and management of these. [ABSTRACT FROM AUTHOR]

Individuals with Down’s Syndrome are predisposed to leukaemia, possibly other malignancies, various infection as well as increased mortality from other causes. osteosarcoma has been linked to genetic illnesses such as hereditary retinoblastoma, Li-Fraumeni syndrome, and Rothman-Thomson syndrome, it has not been linked to Down syndrome. Treatment plan for osteosarcoma includes surgical resection with systemic chemotherapy. Osteosarcoma is highly resistant to radiotherapy. Here we present a 21 year old female patient which is a unique case of Osteosarcoma in Down’s Syndrome patient presenting as Ludwig’s Angina. This current report highlights a clinical presentation of Osteosarcoma in Down’s Syndrome. [ABSTRACT FROM AUTHOR]

Neurodevelopmental disorders are defined as a set of abnormal brain developmental conditions marked by the early childhood onset of cognitive, behavioral, and functional deficits leading to memory and learning problems, emotional instability, and impulsivity. Autism spectrum disorder, attention-deficit/hyperactivity disorder, Tourette syndrome, fragile X syndrome, and Down's syndrome are a few known examples of neurodevelopmental disorders. Although they are relatively common in both developed and developing countries, very little is currently known about their underlying molecular mechanisms. Both genetic and environmental factors are known to increase the risk of neurodevelopmental disorders. Current diagnostic and screening tests for neurodevelopmental disorders are not reliable; hence, individuals with neurodevelopmental disorders are often diagnosed in the later stages. This negatively affects their prognosis and quality of life, prompting the need for a better diagnostic biomarker. Recent studies on microRNAs and their altered regulation in diseases have shed some light on the possible role they could play in the development of the central nervous system. This review attempts to elucidate our current understanding of the role that microRNAs play in neurodevelopmental disorders with the hope of utilizing them as potential biomarkers in the future. [ABSTRACT FROM AUTHOR]

Basal forebrain cholinergic neurons play a key role in cognition. This neuronal system is highly dependent on NGF for its synaptic integrity and the phenotypic maintenance of its cell bodies. Basal forebrain cholinergic neurons progressively degenerate in Alzheimer's disease and Down's syndrome, and their atrophy contributes to the manifestation of dementia. Paradoxically, in Alzheimer's disease brains, the synthesis of NGF is not affected and there is abundance of the NGF precursor, proNGF. We have shown that this phenomenon is the result of a deficit in NGF's extracellular metabolism that compromises proNGF maturation and exacerbates its subsequent degradation. We hypothesized that a similar imbalance should be present in Down's syndrome. Using a combination of quantitative reverse transcription-polymerase chain reaction, enzyme-linked immunosorbent assay, western blotting and zymography, we investigated signs of NGF metabolic dysfunction in post-mortem brains from the temporal (n = 14), frontal (n = 34) and parietal (n = 20) cortex obtained from subjects with Down's syndrome and age-matched controls (age range 31-68 years). We further examined primary cultures of human foetal Down's syndrome cortex (17-21 gestational age weeks) and brains from Ts65Dn mice (12-22 months), a widely used animal model of Down's syndrome. We report a significant increase in proNGF levels in human and mouse Down's syndrome brains, with a concomitant reduction in the levels of plasminogen and tissue plasminogen activator messenger RNA as well as an increment in neuroserpin expression; enzymes that partake in proNGF maturation. Human Down's syndrome brains also exhibited elevated zymogenic activity of MMP9, the major NGF-degrading protease. Our results indicate a failure in NGF precursor maturation in Down's syndrome brains and a likely enhanced proteolytic degradation of NGF, changes which can compromise the trophic support of basal forebrain cholinergic neurons. The alterations in proNGF and MMP9 were also present in cultures of Down's syndrome foetal cortex; suggesting that this trophic compromise may be amenable to rescue, before frank dementia onset. Our study thus provides a novel paradigm for cholinergic neuroprotection in Alzheimer's disease and Down's syndrome.

Congenital heart defects (CHD) affect 50% of Down’s syndrome (DS) cases. This review focusses on the pathogenic molecular mechanism leading to the formation of DS-associated CHD along with the advancement of the emerging diagnostic techniques available for such patients in past few decades. We have shed light on the causative genes of DS-associated CHD that are located either on chromosome 21 or outside chromosome 21. Along with locus-specific mutation, numerous SNP and CNV, miRNA, use of maternal folic acid during pregnancy and signalling pathways are also reported to contribute to the formation of CHD in patients with DS. With the help of both these our understanding of pathogenic mechanism causing CHD in DS cases along with the availability of emerging technologies has facilitated a novel discovery that has ultimately provided a better treatment and management for such cases. Accurate diagnosis and treatment are now available with the introduction of CNV detection and NGS based approaches such as WES, WGS, target sequencing and sequencing of foetal cell-free DNA by the medical geneticist and cardiologist have now allowed further identification of familial recurrence risk and relatives who are at risk through genetic counselling, thereby providing reproductive options and improving proper care of DS-associated CHD. Further, gene-editing studies explore novel pathogenic mechanisms and signalling pathways in DS-associated CHD. [ABSTRACT FROM AUTHOR]

Objective: To determine whether the improved precision of nuchal translucency (NT) measurement used in antenatal screening for Down's syndrome observed over time as evidenced by a decrease in the multiple of the median (MoM) standard deviation requires a modification to the NT MoM truncation limits to maintain accurate risk estimation. Methods: Probability plots were derived from the measurements of NT MoM values used in a 2018 audit of 22,362 unaffected pregnancies. The plots were used to determine whether the NT MoM upper truncation limit should be lowered. Validation plots were used to assess the screening accuracy of Down's syndrome risk estimates calculated from observed NT MoM values in the 22,362 unaffected pregnancies and 69 Down's syndrome pregnancies for original and revised NT MoM truncation limits. Results: Probability plots indicated that with improved precision of NT measurements, there was deviation from a Gaussian distribution at less high MoM values than with less precise measurements. Validation plots showed that using the current NT MoM upper truncation limit of 2.5 MoM with improved precision NT measurements overestimates the Down's syndrome risk (median risk in highest risk category expressed as an odds was 53.3:1 and observed prevalence was 1:1.1). The large discrepancy was corrected by changing the NTupper truncation limit to 2.0 MoM (median risk in highest risk category expressed as an odds was 1:1.78 and observed prevalence 1:2.7). Conclusion: The NT MoM upper truncation limit should be reduced from 2.5 to 2.0 MoM. [ABSTRACT FROM AUTHOR]

While disability has historically been depicted in problematic ways in television, film, and print media, more balanced and progressive cultural representations are arguably emerging. However, few studies address how disabled people and their families (e.g., parents) encounter, and make sense of, media configurations ostensibly designed to promote a more positive and visible image of living with disability. Drawing upon interviews with parents of children with Down's syndrome in the United Kingdom, I sketch out how they feel about depictions that, arguably, depart from hurtful historical narratives of disability as tragic and pitiable. Parents praise, and mostly embrace, recent portrayals of people with Down's syndrome in media outputs. At the same time, they raise concerns around tokenism, stereotyping, focusing upon "exceptional" people, and fueling sanitized accounts which deny, or at least obscure, the harsh lived realities for many parents of disabled children. I conclude by arguing that while parents largely applaud and welcome positive public narratives, they also fear that such representations threaten to gloss over the pervasive mistreatment, disregard, and disenfranchisement of disabled people and their families. [ABSTRACT FROM AUTHOR]

Background: Congenital cataract (CC) and congenital heart disease (CHD) are significant birth defects. In clinical practice, the concurrence of CC and CHD is frequently observed in patients. Additionally, some monogenic diseases, copy number variation (CNV) syndromes, and diseases associated with intrauterine infection involve both cataract and heart defects. However, little is known about the association between CC and CHD. Here, we characterised the demographic, clinical, and genetic features of patients with CC and heart defects.Methods: Medical records for 334 hospitalised patients diagnosed with CC were reviewed. Demographic and clinical features of patients with CC with and without CHD were compared. Clinical and genomic information for patients with 'cataract' and 'cardiac defects' were reviewed from Database of Chromosomal Imbalance and Phenotype in Humans using Ensembl Resources (DECIPHER). Microarray-based comparative genomic hybridisation and whole-exome sequencing were performed in 10 trio families with CC and CHD to detect de novo genomic alterations, including copy number variants and single nucleotide changes.Results: In a retrospective analysis of 334 patients with CC over the past 10 years at our hospital, we observed a high proportion of patients (41.13%) with CHD (including innocent CHD, which reported as left-to-right shunt in echocardiography test). The CC with CHD group had higher incidences of preterm birth and Down's syndrome than the CC without CHD group. Atrial septal defect was the most frequent heart defect. A total of 44 cases with cataracts and heart diseases were retrieved from Database of Chromosomal Imbalance and Phenotype in Humans using Ensembl Resources (DECIPHER). In total, 52 genomic alterations were reported, 44% of which were de novo germline variants. In the 10 trio families with CC and CHD, we found de novo CNVs responsible for two well-known chromosomal disorders and identified a novel pathogenic mutation in GJA8 responsible for CC.Conclusions: We observed significant associations between CHD and CC in our 10-year patient cohort. Based on the cohort and data from DECIPHER, developmental syndromes in some patients were due to genetic defects, thus explaining the concurrence of CC and CHD. Additionally, we detected de novo mutations as an independent cause of cataracts. Our findings suggest that developmental syndromes in patients with CC deserve more attention in clinical practice by ophthalmologists. [ABSTRACT FROM AUTHOR]

Down's syndrome (DS) is one of the most common genetic causes of mental and cognitive retardation. In fact, it results in a number of characteristic neuropsychological and physical symptoms, including mental retardation. The aim of this study was to compare the brain structure volumes of children with DS to those of healthy children using MRI Studio in order to investigate whether there exists correlation between the developmental stages of DS and the results of both the Denver II Developmental Screening Test and magnetic resonance imaging (MRI) quantitative analysis. Five children diagnosed with Down's syndrome (age range = 2-6 years) were matched for gender and age with five healthy comparison subjects. To analyse the overall and regional brain volumes, high-resolution MRI scans were performed and a morphometric analysis was conducted via MRI Studio software. The MRI T1 volumetric images were normalised using a linear transformation, which was followed by large deformation diffeomorphic metric mapping. Significant decreases (p<0.05) in the volumes of the right pons, cerebellum and left superior frontal gyrus (prefrontal cortex) were observed in the children with DS when compared with the control group (p<0.05). Although decreases were detected in the regional volumes of other brain locations, they were not significant (p>0.05). It was further found that the developmental retardation observed in the children with DS, as detected using the Denver II test, increased due to decreases in the volumes of certain regions of the brain, although this was also not statistically significant (p>0.05). The results of this study generally confirm the findings of prior studies concerning the overall patterns of the brain volumes in children with DS and also provide new evidence of the abnormal volumes of specific regional tissue components among such a population. These results suggest that the brain volume reduction associated with DS may primarily be due to early developmental differences rather than neurodegenerative changes. [ABSTRACT FROM AUTHOR]

The prevalence of type 1 diabetes (T1D) in individuals with Down's syndrome (DS) is higher than in the general population. In this case study, a five-year-old boy with DS who was recently diagnosed with T1D is examined and the additional considerations needed for healthcare professionals to support the child and his family through childhood and adolescence are discussed. These include reasons for the choice of insulin therapy and continuous glucose monitoring. The aim of diabetes teams working with children and young people with T1D is to support them as they grow to become more involved in their diabetes care. Possible techniques and teaching strategies to help him understand his diabetes and the additional support he needs from his school are contemplated. [ABSTRACT FROM AUTHOR]

Background: Literature on the outcomes of total hip arthroplasty (THA) has established the procedure as a gold standard for hip arthritis. However, postoperative outcomes after THA in specific conditions such as Down's syndrome (DS) have been sparsely described. This large database analysis of over 367,000 patients was aimed at evaluating the immediate postoperative results including morbidity and mortality rates after THA among DS patients and comparing these with a control population., Methods: Data from the National Inpatient Sample (NIS) database Healthcare Cost and Utilization Project (HCUP) was reviewed retrospectively from 2016 to 2019 on THAs. Among 367,894 patients, 129 were identified with a diagnosis of DS. Complex primaries and revisions were excluded. Demographics, admission details, and perioperative variables including morbidity and mortality rates were compared between DS patients and controls., Results: Patients with DS were younger than the control population (43.3 versus 65.9 years, p=0.002), had a greater preponderance of men, had a lower incidence of smoking and diabetes, and had a relatively higher incidence of non-elective THA. The former also had a longer mean length of stay (LoS) and higher mean costs to healthcare. Two patients with DS died after a THA, making the mortality rate 17-fold higher in DS patients. Higher rates of postoperative anemia (31.8% versus 19.6%, p<0.001), pneumonia (2.3% versus 0.3%), and pulmonary embolism (p=0.0.12) were seen in the DS group. Also seen in the DS group were higher risks of periprosthetic fractures (p=0.020) and periprosthetic joint infections (PJIs) (p=0.047)., Conclusions: Results from a total hip arthroplasty continue to positively transform the lives of patients with end-stage hip arthritis from varying etiologies. In the special cohort of Down's syndrome, a thorough discussion is essential with reference to the relatively higher morbidity and mortality in this group of patients. Documented conversations between patients and their families and healthcare providers should consist of detailed deliberations on the pros and cons of surgery and its potential impacts., Competing Interests: Human subjects: Consent was obtained or waived by all participants in this study. Animal subjects: All authors have confirmed that this study did not involve animal subjects or tissue. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work., (Copyright © 2024, Khanna et al.)

Subluxation of the atlantooccipital joint in patients with underlying Down syndrome is an extremely rare orthopedic condition. The condition can pose life-threatening risks if not promptly diagnosed and treated in the early stage. Yet, there have been documented cases of survival following atlantooccipital subluxation or dislocation. Atlantooccipital subluxation (AOS) is usually identified during screening in children with Down syndrome for atlantoaxial subluxation (AAS). Therefore, careful evaluation of the atlantooccipital joint from radiographs is also essential. It is crucial to emphasize the clinical significance of AOS. Here the authors present the case of a fifteen-year-old girl with underlying Down syndrome (trisomy 21) who survived a sudden onset of non-traumatic atlantooccipital subluxation with spinal cord compression. There are only a few cases were reported in patients with Down syndrome (trisomy 21) and only two cases with surgically treated atlantooccipital (C0C1) subluxation have been reported. This case is of particular interest as it represents the first reported case of atlantooccipital (C0C1) subluxation with spinal cord compression in Down syndrome that underwent occipitocervical fusion surgery during the acute presentation, resulting in significant neurological recovery. Her neurology symptoms and physical functions showed remarkable improvement post-surgery, and she is doing well at the one-year follow-up in the clinic. Early surgery during acute presentation in this case resulted in good surgical outcomes and improved patient quality of life., Competing Interests: Human subjects: Consent was obtained or waived by all participants in this study. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work., (Copyright © 2024, Ng et al.)

Aim: Aim of the present study was to evaluate the prevalence of dental caries and periodontal status among Down’s syndrome population in Riyadh City. Materials and Methods: A total of 81 male Down’s syndrome subjects were examined in this study. All subjects were recruited from the Saudi Center for Down Syndrome, Riyadh. Clinical examination was carried out by a single precalibrated examiner. Dental caries experience was counted according to the DMFT (decayed, missing, and filled teeth) indexes. Periodontal status was evaluated by using plaque and gingival indexes. Statistical analysis was performed using SPSS 19 version. Consequently, Pearson chi-square test and Fisher exact test was used to calculate p-value for parametric variables. Results: In this study 11.1% of the subjects were not having any decayed teeth, 39.5% were not having any missing teeth, and 55.6% were not having any filled teeth. In plaque index, maximum number of subjects in all the age group were in the fair group, and there was a highly significant (P value

Abstract Background The use of technology to assist in the communication, socialization, language, and motor skills of children with Down’s syndrome (DS) is required. The aim of this study was to analyse research findings regarding the different instruments of ‘augmentative and alternative communication’ used in children with Down’s syndrome. Methods This is a systematic review of published articles available on PubMed, Web of Science, PsycInfo, and BVS using the following descriptors: assistive technology AND syndrome, assistive technology AND down syndrome, down syndrome AND augmentative and alternative communication. Studies published in English were selected if they met the following inclusion criteria: (1) study of children with a diagnosis of DS, and (2) assistive technology and/or augmentative and alternative communication analysis in this population. Results A total of 1087 articles were identified. Thirteen articles met the inclusion criteria. The instruments most used by the studies were speech-generating devices (SGDs) and the Picture Exchange Communication System (PECS). Conclusion Twelve instruments that provided significant aid to the process of communication and socialization of children with DS were identified. These instruments increase the interaction between individuals among this population and their peers, contributing to their quality of life and self-esteem.