Definition, assessment and management of frailty for people with intellectual disabilities: A scoping review.

BACKGROUND: People with intellectual disabilities may experience frailty earlier than the general population. This scoping review aimed to investigate how frailty is defined, assessed, and managed in adults with an intellectual disability; factors associated with frailty; and the potential impact of COVID-19 on frailty identification and management. METHOD: Databases were searched from January 2016 to July 2023 for studies that investigated frailty in individuals with intellectual disabilities. RESULTS: Twenty studies met the inclusion criteria. Frailty prevalence varied between 9% and 84%. Greater severity of intellectual disability, presence of Down syndrome, older age, polypharmacy, and group home living were associated with frailty. Multiagency working, trusted relationships and provision of evidence-based information may all be beneficial in frailty management. CONCLUSION: Frailty is common for people with intellectual disabilities and is best identified with measures specifically designed for this population. Future research should evaluate interventions to manage frailty and improve lives.

Analysis of the circumstances associated with death and predictors of mortality in Spanish adults with Down syndrome, 1997-2014.

OBJECTIVES: Characterise the circumstances associated with death during admission of adults with Down syndrome (DS) and to identify predictors of mortality. PATIENTS AND METHODS: Observational study based on data on all emergent admissions of adults with DS to hospitals of the Spanish National Health System between 1997 and 2014. We analysed epidemiological and clinical variables. RESULTS: We analysed admissions of 11,594 adults with DS, mean age 47 years. 1715 patients died (15%), being the highest mortality (35%) in individuals aged 50-59. A past medical history of cerebrovascular disease (aOR 2.95 [2.30-3.77]) or cancer (aOR 2.79 [2.07-3.75]), gross aspiration's admission (aOR 2.59 [2.20-3.04]), immobility (aOR 2.31 [1.46-3-62]), and readmission within 30 days (aOR 2.43 [2.06-2.86]) were identified as predictors of mortality. CONCLUSIONS: Adults with DS have a high in-hospital mortality rate. The main predictors of death were cerebrovascular disease, cancer, early readmission, and conditions commonly associated with advanced dementia.

Kidney and urological involvement in Down syndrome: frequent, underestimated, but associated with impaired quality of life and risk of kidney failure.

Patients with Down syndrome (DS) are at risk of multiorgan dysfunction; kidney and urological impairment are common. This is due to a likely increased risk of congenital kidney and urological malformations (odds ratio of 4.5 compared to the general population in one study), more frequent associated comorbidities at risk of kidney dysfunction (such as prematurity in 9-24% of children, intrauterine growth retardation or low birth weight in 20%, and congenital heart disease in 44%), and more frequent lower urinary tract dysfunction (reported in 27-77% of children with DS). If present, malformations and comorbidities at risk of kidney dysfunction warrant regular kidney monitoring in addition to their treatment. Serum creatinine in children with DS has been shown to be higher than in the general population and asymptomatic hyperuricemia is reported in 12-33% of children or young adults with DS. Moreover cryptorchidism and testicular cancer are also more common and should be detected by clinical examination. Thus, persons with DS at risk of presenting kidney and urological impairment should be identified by prenatal ultrasonography, comorbidities at risk of kidney sequelae considered, and during regular medical follow-up, clinically examined and questioned to diagnose testicular anomalies and lower urinary tract dysfunction. This is of importance as such kidney and urological impairments are associated with impaired quality of life and mental health, and risk of kidney failure.

Survival outcomes of myeloid leukemia associated with Down syndrome and de novo acute myeloid leukemia in children: Experience from a single tertiary center in Thailand.

Few studies have reported the survival outcomes of myeloid leukemia associated with Down syndrome (DS) in resource-limited countries. This study aimed to compare characteristics and survival outcomes of children with acute myeloid leukemia (AML) between those with and without DS in Thailand. The medical records of AML patients aged 0-15 years treated in a major tertiary center in Southern Thailand between October 1978 and December 2019 were reviewed retrospectively. The overall (OS) and event-free survivals (EFS) rates were calculated using the Kaplan-Meier method. A total of 362 AML patients were included, of which 41 (11.3%) had DS. The mean age at diagnosis of the DS patients was 2.5 ± 1.9 years and most of them (90.2%) were under the age of five. The DS patients had lower initial white blood cell counts and peripheral blasts compared to the non-DS patients. The AML-M7 subtype was more common in the DS than in the non-DS patients (80.5% vs. 9.1%, p < 0.01, respectively). The 5-year OS and EFS rates of the DS patients were lower compared to the non-DS patients (12.9% vs. 20.5%, p = 0.05 and 13.7% vs. 18.4%, p = 0.03, respectively). DS patients had a significantly higher rate of early and treatment-related deaths compared to non-DS patients (30.3% vs. 13.5%, p < 0.01 and 39.4% vs. 19.5%, p = 0.02, respectively). Over the study period, there were a decrease in early death rate and an increase in survival rates of DS patients, which suggests that chemotherapy regimens and supportive care have improved over time.

A French nationwide study compared various conditions and healthcare use of individuals < 65 years with a Down's syndrome to those without.

Few regular national clinical data are available for individuals with Down's syndrome (IDS) bearing in mind that they are subject to countries variations in medical termination of pregnancy and screening. Individuals < 65 in 2019 were selected in view of the low number of older IDS. Thus, 98% of 52.4 million people with correct data were included from the national health data system. IDS (35,342) were identified on the basis of the International Classification of Diseases 10th revision code (Q90). Risk ratios (RR) were calculated to compare the frequencies in 2019 between IDS and individual without Down's syndrome (IWDS) of use of health care. The prevalence of IDS was 0.07% (48% women), comorbidities were more frequent, especially in younger patients (24% < 1 year had another comorbidity, RR = 20), as was the percentage of deaths (4.6%, RR = 10). Overall, tumours were less frequent in IDS compared with IWDS (1.2%, RR = 0.7) except for certain leukaemias and testicular tumours (0.3%, RR = 4). Cardiac malformations (5.2%, RR = 52), dementia (1.2%, RR = 29), mental retardation (5%, RR = 21) and epilepsy (4%, RR = 9) were also more frequent in IDS. The most frequent hospital diagnoses for IDS were: aspiration pneumonia (0.7%, RR = 89), respiratory failure (0.4%, RR = 17), sleep apnoea (1.1%, RR = 8), cryptorchidism (0.3%, RR = 5.9), protein-energy malnutrition (0.1%, RR = 7), type 1 diabetes (0.2%, RR = 2.8) and hypothyroidism (0.1%, RR = 72). IDS were more likely to use emergency services (9%, RR = 2.4), short hospital stay (24%, RR = 1.6) or hospitalisation at home (0.6%, RR = 6). They consulted certain specialists two to three times more frequently than IWDS, for example cardiologists (17%, RR = 2.6). This study is the first detailed national study comparing IDS and non-IDS by age group. These results could help to optimize prenatal healthcare, medical and social support.

Bio-demographic characteristics of households and risk factors for Down Syndrome in Morocco.

Background: The most studied risk factors for Down Syndrom (DS) were: region of residence, exposure to chemicals, parents' education level, cigarette and alcohol use by father or mother or both, and oral contraceptive (OC) use. Objective: The aim of this study was to compare certain variables considered as risk factors on DS such as parental age at birth, OC use, child's sex, and rank of birth between children with DS and their siblings without DS as well as to determine the socio-bio-demographic characteristics of the families studied compared with the general Moroccan population. Material and Methods: We conducted a cross-sectional analysis of 277 families with 925 siblings and at least one child with DS (279 with DS) between 2014 and 2017. The data are collected using a standardized questionnaire in MarrakechSafi region. Data were entered and analyzed using the statistical program SPSS statistics software for Windows (version 20.0). Chi-square (χ2) and Student t tests were used for testing statistical significance. Differences were considered significant when the p-value <0.05. Results: The binary logistic regression analysis between DS and non-DS children in their bio-demographic characteristics studied (sex, maternal age at birth, paternal age at birth, oral contraceptive (OC) use, length of oral contraceptive use before pregnancy and rank of birth) showed that only maternal age and paternal age at birth and OC use were associated with DS birth (OR= 1.16; 95% CL: 1.11-1.21, OR= 1.05; 95%CL: 1.01-1.09 and OR= 0.01; 95%CL: 0.00-0.003, respectively). In the other hand, the comparison between socio and bio-demographic characteristics of households studied with data from National Population Survey and Family health (2018) showed a higher level of education in women and men in our sample. Similar results were shown in rate of men and women in paid employment, the rate of smoking and alcohol consumption among men and the rate of OC use before pregnancy among women. Conclusion: These results will help to sensitize the Moroccan population about risk factors for DS.

Incidence of urological tumors in Down's syndrome: a systematic review and meta-analysis.

BACKGROUND: Some authors have estimated that the incidence of testicular germ cell tumors in individuals with trisomy 21 is more than fivefold higher than that in the general population. OBJECTIVE: This systematic review aimed to estimate the incidence of urological tumors in patients with Down's syndrome. STUDY DESIGN: We conducted a search strategy in MEDLINE (OVID), EMBASE, LILACS, and the Cochrane Central Register of Controlled Trials (CENTRAL) from inception to nowadays. We assessed the risk of bias and performed a meta-analysis. Also, the heterogeneity between trials was evaluated by the I2 test. We completed the subgroup analysis based on the type of urological tumor (testis, bladder, kidney, upper urological tract, penile, retroperitoneum). RESULTS: We found 350 studies by the search strategy. After carefully reviewing, full-text studies were included. 16,248 individuals with Down's syndrome were included, and 42 patients presented with urological tumors. There was a total incidence of 0.1%, 95%CI (0.06-0.19), I2 61%. The most common urological tumor reported was testicular. We found six studies describing 31 events and an overall incidence of 0.19%, 95%CI (0.11-0.33), I2: 51%. Other studies reported kidney, penile, upper urinary tract, bladder, and retroperitoneum tumors with a very low incidence, 0.02%, 0.06%, 0.03%, 0.11%and 0.07%, respectively. DISCUSSION: Regarding non-testicular urological tumors, we found incidences as low as 0.02% in kidney cancer or 0.03% in the upper-urothelial tract tumors. It is also lower than the general population. Compared to the age of onset of patients, it is also lower than the general population, perhaps related to a shorter life expectancy. As a limitation, we found a high heterogeneity and a lack of information regarding non-testicular tumors. CONCLUSION: There was a very low incidence of urological tumors in people with Down's syndrome. Testis tumor was the most frequently described in all cohorts and within a normal distribution range.

Inverse Comorbidity between Down Syndrome and Solid Tumors: Insights from In Silico Analyses of Down Syndrome Critical Region Genes.

An inverse comorbidity has been observed between Down syndrome (DS) and solid tumors such as breast and lung cancers, and it is posited that the overexpression of genes within the Down Syndrome Critical Region (DSCR) of human chromosome 21 may account for this phenomenon. By analyzing publicly available DS mouse model transcriptomics data, we aimed to identify DSCR genes that may protect against human breast and lung cancers. Gene expression analyses with GEPIA2 and UALCAN showed that DSCR genes ETS2 and RCAN1 are significantly downregulated in breast and lung cancers, and their expression levels are higher in triple-negative compared to luminal and HER2-positive breast cancers. KM Plotter showed that low levels of ETS2 and RCAN1 are associated with poor survival outcomes in breast and lung cancers. Correlation analyses using OncoDB revealed that both genes are positively correlated in breast and lung cancers, suggesting that they are co-expressed and perhaps have complementary functions. Functional enrichment analyses using LinkedOmics also demonstrated that ETS2 and RCAN1 expression correlates with T-cell receptor signaling, regulation of immunological synapses, TGF-ß signaling, EGFR signaling, IFN-γ signaling, TNF signaling, angiogenesis, and the p53 pathway. Altogether, ETS2 and RCAN1 may be essential for the development of breast and lung cancers. Experimental validation of their biological functions may further unravel their roles in DS and breast and lung cancers.

The impact of obstructive sleep apnea screening guidelines in a population-based, midwestern cohort of children with Down Syndrome.

OBJECTIVE: /Background: The high rate of obstructive sleep apnea (OSA) in Down Syndrome (DS) is well described in the literature. The impact of the 2011 screening guidelines has not been fully evaluated. The objective of this study is to evaluate the impact of the 2011 screening guidelines on the diagnosis and treatment of obstructive sleep apnea (OSA) in a community cohort of children with Down Syndrome. PATIENTS/METHODS: This is a retrospective, observational study conducted on 85 individuals with DS born between 1995 and 2011 in a nine-county region of southeast Minnesota. The Rochester Epidemiological Project (REP) Database was used to identify these individuals. RESULTS: /Conclusions: Sixty-four percent of the patients with DS had OSA. Post guideline publication, the median age at OSA diagnosis was higher (5.9 years; p = 0.003) and polysomnography (PSG) was used more often to establish the diagnosis. Most children underwent first line therapy with adenotonsillectomy. There was a high degree of residual OSA after surgery (65%). There were trends post guideline publication towards increased PSG use and for consideration of additional therapy beyond adenotonsillectomy. The use of PSG before and after first line treatment for OSA in children with DS is needed due to the high rate of residual OSA. Unexpectedly, in our study, the age at OSA diagnosis was higher after guideline publication. Continued assessment of clinical impact and refinement of these guidelines will be of benefit to individuals with DS given the prevalence and longitudinal nature of OSA in this population.

Multiple morbidity across the lifespan in people with Down syndrome or intellectual disabilities: a population-based cohort study using electronic health records.

BACKGROUND: The Down syndrome phenotype is well established, but our understanding of its morbidity patterns is limited. We comprehensively estimated the risk of multiple morbidity across the lifespan in people with Down syndrome compared with the general population and controls with other forms of intellectual disability. METHODS: In this matched population-based cohort-study design, we used electronic health-record data from the UK Clinical Practice Research Datalink (CRPD) from Jan 1, 1990, to June 29, 2020. We aimed to explore the pattern of morbidities throughout the lifespan of people with Down syndrome compared with people with other intellectual disabilities and the general population, to identify syndrome-specific health conditions and their age-related incidence. We estimated incidence rates per 1000 person-years and incidence rate ratios (IRRs) for 32 common morbidities. Hierarchical clustering was used to identify groups of associated conditions using prevalence data. FINDINGS: Between Jan 1, 1990, and June 29, 2020, a total of 10 204 people with Down syndrome, 39 814 controls, and 69 150 people with intellectual disabilities were included. Compared with controls, people with Down syndrome had increased risk of dementia (IRR 94·7, 95% CI 69·9-128·4), hypothyroidism (IRR 10·6, 9·6-11·8), epilepsy (IRR 9·7, 8·5-10·9), and haematological malignancy (IRR 4·7, 3·4-6·3), whereas asthma (IRR 0·88, 0·79-0·98), cancer (solid tumour IRR 0·75, 0·62-0·89), ischaemic heart disease (IRR 0·65, 0·51-0·85), and particularly hypertension (IRR 0·26, 0·22-0·32) were less frequent in people with Down syndrome than in controls. Compared to people with intellectual disabilities, risk of dementia (IRR 16·60, 14·23-19·37), hypothyroidism (IRR 7·22, 6·62-7·88), obstructive sleep apnoea (IRR 4·45, 3·72-5·31), and haematological malignancy (IRR 3·44, 2·58-4·59) were higher in people with Down syndrome, with reduced rates for a third of conditions, including new onset of dental inflammation (IRR 0·88, 0·78-0·99), asthma (IRR 0·82, 0·73-0·91), cancer (solid tumour IRR 0·78, 0·65-0·93), sleep disorder (IRR 0·74, 0·68-0·80), hypercholesterolaemia (IRR 0·69, 0·60-0·80), diabetes (IRR 0·59, 0·52-0·66), mood disorder (IRR 0·55, 0·50-0·60), glaucoma (IRR 0·47, 0·29-0·78), and anxiety disorder (IRR 0·43, 0·38-0·48). Morbidities in Down syndrome could be categorised on age-related incidence trajectories, and their prevalence clustered into typical syndromic conditions, cardiovascular diseases, autoimmune disorders, and mental health conditions. INTERPRETATION: Multiple morbidity in Down syndrome shows distinct patterns of age-related incidence trajectories and clustering that differ from those found in the general population and in people with other intellectual disabilities, with implications for provision and timing of health-care screening, prevention, and treatment for people with Down syndrome. FUNDING: The European Union's Horizon 2020 Research and Innovation Programme, the Jérôme Lejeune Foundation, the Alzheimer's Society, the Medical Research Council, the Academy of Medical Sciences, the Wellcome Trust, and William Harvey Research Limited.

Co-occurring conditions in children with Down syndrome and autism: a retrospective study.

BACKGROUND: Down syndrome (DS) is one of the most common genetic causes of intellectual disability, and it is associated with an increased incidence of numerous co-occurring conditions. Autism spectrum disorder (ASD) is common in persons with DS, with rates reported as high as 39%. However, little is known regarding co-occurring conditions in children with both DS and ASD. METHODS: A single-center retrospective review of prospective longitudinally collected clinical data was performed. Any patient with a confirmed diagnosis of DS evaluated at a large, specialized Down Syndrome Program in a tertiary pediatric medical center between March 2018 and March 2022 was included. A standardized survey which included demographic and clinical questions was administered during each clinical evaluation. RESULTS: In total, 562 individuals with DS were included. The median age was 10 years (IQR: 6.18-13.92). Of this group, 72 (13%) had a co-occurring diagnosis of ASD (DS+ASD). Individuals with DS+ASD were more likely to be male (OR 2.23, CI 1.29-3.84) and had higher odds of a current or prior diagnosis of constipation (OR 2.19, CI 1.31-3.65), gastroesophageal reflux (OR 1.91, CI 1.14-3.21), behavioral feeding difficulties (OR 2.71, CI 1.02-7.19), infantile spasms (OR 6.03, CI 1.79-20.34) and scoliosis (OR 2.73, CI 1.16-6.40). There were lower odds of congenital heart disease in the DS+ASD group (OR 0.56, CI 0.34-0.93). There was no observed difference in prematurity or Neonatal Intensive Care Unit complications between groups. Individuals with DS+ASD had similar odds of having a history of congenital heart defect requiring surgery to those with DS only. Furthermore, there was no difference in rates of autoimmune thyroiditis or celiac disease. There was also no difference in rates of diagnosed co-occurring neurodevelopmental or mental health conditions in this cohort, including anxiety disorders and attention-deficit/hyperactivity disorder. CONCLUSIONS: This study identifies a variety of medical conditions which are more frequent in children with DS+ASD than DS alone, providing important information for the clinical management of these patients. Future research should investigate the role of some of these medical conditions in the development of ASD phenotypes, and whether there may be distinct genetic and metabolic contributions towards these conditions.

Cardiac anomalies in children with congenital duodenal obstruction: a systematic review with meta-analysis.

BACKGROUND: Cardiac anomalies occur frequently in patients with congenital duodenal obstruction (DO). However, the exact occurrence and the type of associated anomalies remain unknown. Therefore, the aim of this systematic review is to aggregate the available literatures on cardiac anomalies in patients with DO. METHODS: In July 2022, a search was performed in PubMed and Embase.com. Studies describing cardiac anomalies in patients with congenital DO were considered eligible. Primary outcome was the pooled percentage of cardiac anomalies in patients with DO. Secondary outcomes were the pooled percentages of the types of cardiac anomalies, type of DO, and trisomy 21. A meta-analysis was performed to pool the reported data. RESULTS: In total, 99 publications met our eligibility data, representing 6725 patients. The pooled percentage of cardiac anomalies was 29% (95% CI 0.26-0.32). The most common cardiac anomalies were persistent foramen ovale 35% (95% CI 0.20-0.54), ventricular septal defect 33% (95% CI 0.24-0.43), and atrial septal defect 33% (95% CI 0.26-0.41). The most prevalent type of obstruction was type 3 (complete atresias), with a pooled percentage of 54% (95% CI 0.48-0.60). The pooled percentage of Trisomy 21 in patients with DO was 28% (95% CI 0.26-0.31). CONCLUSION: This review shows cardiac anomalies are found in one-third of the patients with DO regardless of the presence of trisomy 21. Therefore, we recommend that patients with DO should receive preoperative cardiac screening. LEVEL OF EVIDENCE: II.

Is There a Relationship Between the Functional Level of Juvenile and Adolescent Patients With Down Syndrome and Hip Dysplasia?

BACKGROUND: The prevalence of hip dysplasia among patients with Down syndrome (DS) is higher than in the general population. We hypothesize that a relationship may exist between functional level and hip dysplasia in DS, but this has not been studied to date. The aim of this study is to evaluate whether there is a relationship between functional level and radiographic parameters of hip dysplasia or other measures. METHODS: Retrospective cross-sectional comparative study of 652 patients with DS from a pediatric referral center database. Patients over 8 years of age with an anteroposterior pelvis radiograph and with no exclusion criteria were selected, totaling 132 patients (264 hips; 54.55% females; mean age 12.96 ± 2.87 y). Several radiographic parameters of the acetabulum [Sharp angle (SA), Tönnis angle (TA), Wiberg center-edge angle (W-CEA), extrusion index (EI), and acetabular retroversion signs], the proximal femur [neck shaft angle (NSA)], and joint congruence [Shenton line (SL)] were assessed. Patients were classified into 2 levels based on functional skills. A multivariate association analysis was performed between radiographic parameters and functional level. RESULTS: Sixty-one patients were compatible with a functional level I and 71 with a level II. Forty-six hips were dysplastic and 60 were borderline according to the W-CEA. A statistically significant relationship was found between the categorical distribution of certain radiographic measurements of hip dysplasia (EI, SA, TA, W-CEA, SL, and classification by functional level ( P < 0.0005). A significant receiver operating characteristic curve was obtained for W-CEA with a cutt-off point at 26.4 degrees for level I (area under the curve = 0.763; P < 0.005; sensitivity = 0.800 and specificity = 0.644). There was a fairly high correlation between EI and TA (0.749; P < 0.0005), EI and W-CEA (-0.817; P < 0.0005), and TA and W-CEA (-0.748; P < 0.0005). Numerous hips showed signs of acetabular retroversion, with no significant differences found between functional levels or association with hip dysplasia measures. CONCLUSIONS: The present study reveals a relationship between an increased risk of hip dysplasia and reduced functional levels in DS children older than 8 years. These findings may guide individualized clinical follow-up of hip development in DS children considering their functional level. LEVEL OF EVIDENCE: Level III, retrospective comparative study.

Flexible bronchoscopy in pediatric patients with Down syndrome: A case-control study of the indications, findings, and complications.

BACKGROUND: Children with Down syndrome (DS) often undergo flexible bronchoscopies (FB) due to common respiratory symptoms. OBJECTIVE: To examine the indications, findings, and complications of FB in pediatric DS patients. METHODS: A retrospective case-control study on FB performed in DS pediatric patients between 2004 and 2021 in a tertiary center. DS patients were matched to controls (1:3) based on age, gender, and ethnicity. Data collected included demographics, comorbidities, indications, findings, and complications. RESULTS: Fifty DS patients (median age 1.36 years, 56% males) and 150 controls (median age 1.27 years, 56% males), were included. Evaluation for obstructive sleep apnea and oxygen dependence were more common indications among DS (38% vs. 8%, 22% vs. 4%, p < 0.01, respectively). Normal bronchoscopy was less frequent in DS compared with controls (8% vs. 28%, p = 0.01). Soft palate incompetence and tracheal bronchus were more frequent in DS (12% vs. 3.3%, p = 0.024, 8% vs. 0.7%, p = 0.02, respectively). Complications were more frequent in DS (22% vs. 9.3%, incidence rate ratio [IRR] 2.36, p = 0.028). In DS, cardiac anomalies (IRR 3.96, p < 0.01), pulmonary hypertension (IRR 3.76, p = 0.006), and pediatric intensive care unit (PICU) hospitalization before the procedure (IRR 4.2, p < 0.001) were associated with higher complication rates. In a multivariate regression model, history of cardiac disease and PICU hospitalization before the procedure, but not DS, were independent risk factors for complications with an IRR of 4 and 3.1, respectively (p = 0.006, p = 0.05). CONCLUSION: DS pediatric patients undergoing FB are a unique population with specific indications and findings. DS pediatric patients with cardiac anomalies and pulmonary hypertension are at the highest risk for complications.

[Congenital heart disease in Down's syndrome]. / Abordaje terapéutico de cardiopatías congénitas en el síndrome de Down.

Background: Down syndrome is the most common chromosomal abnormality, it is associated with a wide variety of congenital heart defects, being considered as clinical elements of high infant morbidity and mortality. Objective. Objective: To describe the clinical outcomes of patients with Down syndrome undergoing surgery and interventionism as treatment for congenital heart disease at this Institution. Material and methods: 368 patients with Down syndrome and associated congenital heart disease were diagnosed. The variables studied were weight, stature, sex, age, type of heart disease, corrective procedure, length of stay in the hospital and intensive care unit, morbidity and mortality. Results: 368 pediatric patients underwent surgical or interventional correction. Of which 197 (54%) were female, the median age was 24 months (interquartile range [IQR]: 14-48) in the surgical group and 36 months (IQR: 17-85) in the interventional group. The most frequent congenital heart diseases were: PCA (31%), IVC (28%), CAV (20%), ASD (16%) and tetralogy of Fallot with 4% respectively. Hospital stay was 9 days (IQR: 7-15) in the surgical group and 3 days (IQR: 2-5) in the hemodynamic group. Morbidities were postoperative infection in 30 patients (14%) and complete atrioventricular block in 19 patients (9%). Overall mortality including both surgical and interventional was 2%. Conclusions: The therapeutic, surgical and interventional results in children with Down syndrome and congenital heart disease have improved very satisfactorily. The lower prevalence of the atrioventricular canal in the Mexican population is noteworthy. It is essential to carry out a cardiological evaluation of children with Down syndrome and those with congenital heart disease to correct them in a timely manner to promote survival and quality of life.

Antecedentes: El síndrome de Down es la anomalía cromosómica más frecuente y se asocia con defectos cardiacos congénitos, elementos clínicos de una alta morbilidad y mortalidad infantil. Objetivo: Describir los desenlaces clínicos de los pacientes con síndrome de Down sometidos a cirugía e intervencionismo como tratamiento de las cardiopatías congénitas en esta institución. Material y métodos: Estudio retrospectivo que incluyó pacientes menores de 18 años con síndrome de Down y patología cardiaca asociada durante los últimos 10 años. Las variables estudiadas fueron: peso, talla, sexo, edad, tipo de cardiopatía, procedimiento correctivo, tiempo de estancia intrahospitalaria y en unidad de terapia intensiva, morbilidad y mortalidad. Resultados: 368 pacientes pediátricos fueron llevados a corrección quirúrgica o intervencionista, de los cuales 197 (54%) pertenecían al sexo femenino, la mediana de edad fue de 24 meses (rango intercuartílico [RIQ]: 14-48) en el grupo quirúrgico y de 36 meses (RIQ: 17-85) en el intervencionista. Las cardiopatías congénitas más frecuentes fueron: persistencia del conducto arterioso (31%), comunicación interventricular (28%), canal atrioventricular (CAV) (20%), comunicación interauricular (16%) y tetralogía de Fallot con el 4% respectivamente. La estancia hospitalaria fue de 9 días (RIQ: 7-15) en el grupo quirúrgico y de 3 días (RIQ: 2-5) en el hemodinámico. Las morbilidades fueron infección postoperatoria en30 pacientes (14%) y en 19 pacientes (9%) bloqueo atrioventricular completo. La mortalidad global incluyendo tanto el quirúrgico como el intervencionista fue del 2%. Conclusiones: Los resultados terapéuticos, quirúrgicos e intervencionistas, enlos niños con síndrome de Down y cardiopatías congénitas han mejorado en forma muy satisfactoria. Es de destacar lamenor prevalencia del CAV en la población mexicana. Es indispensable realizar evaluación cardiológica a los niños consíndrome de Down y aquellos con cardiopatías congénitas llevarlos a corrección de manera oportuna para favorecer la sobrevida y calidad de vida.

Effect of trisomy 21 on long-term gastrointestinal outcomes in duodenal atresia.

PURPOSE: We aimed to determine if Trisomy 21 (T21) affected gastrointestinal outcomes for children with duodenal atresia (DA). METHODS: We identified children born with DA between 1991 and 2017. Cases were divided into DA with T21 and DA without T21. Ten healthy controls per case were included. Esophageal, ulcerative, obstructive and stomach complaints were assessed. Risk ratios (RR), rate ratios (RaR) and Cox models were constructed. Analyses were performed for cases versus controls, and for T21 cases versus non-T21 cases. RESULTS: DA cases totaled 52: 22 had T21 and 30 did not. There were 520 controls. DA cases had more gastrointestinal complaints than controls. T21 cases were at greater risk and frequency of esophageal disease than non-T21 cases (RR = 4.08, p = 0.002, RaR = 69.8, p < 0.001). T21 and non-T21 cases were equally likely to present with obstruction (RR = 0.91, p = 1), but T21 cases complained of obstructive symptoms less (RaR = 0.57, p = 0.003). T21 and non-T21 cases had the same risk of stomach diseases, but T21 cases complained more frequently (RaR = 6.20, p < 0.001). Cox models supported these observations. T21 did not affect ulcerative diseases. CONCLUSION: DA cases had more gastrointestinal problems than controls. T21 increased esophageal and gastric complaints in DA cases but did not affect ulcerative and obstructive complaints.

What brings adults with Down syndrome to the hospital? A retrospective review of a Spanish cohort between 1997 and 2014.

OBJECTIVES: To describe the clinical and epidemiological characteristics of adult patients with Down syndrome admitted to Spanish hospitals between 1997 and 2014. Secondary goals were to study trend changes over time, and to analyse differences between patients admitted to medical and surgical departments. PATIENTS AND METHODS: Retrospective observational study on data collected from the Minimum Basic Dataset (MBDS, Conjunto Mínimo Básico de Datos [CMBD]) of admissions of adults with Down syndrome to hospitals belonging to the Spanish National Health System from 1 January 1997 through 31 December 2014. We analysed epidemiological and clinical variables. RESULTS: We analysed 28,716 admissions of 16,874 adult patients with Down syndrome. Men accounted for 58.2% of the sample, and the mean age on admission was 41 ± 13 years, with an 11-year increase in mean age during the study period. Admissions among persons with Down syndrome increased by 5% during the study period, with a noticeable rise in admissions of older adults and to medical departments. Almost one-third of patients (31.8%) were admitted more than once. Age-adjusted mortality was 15.7%. The most common comorbid conditions were chronic obstructive pulmonary disease (25%), hypothyroidism (18.6%), and epilepsy (14.3%). The departments with the highest numbers of admissions were internal medicine (26.3%), pulmonary medicine (6.9%), and general surgery (5.25%). CONCLUSION: Hospital admissions among Spanish adults with Down syndrome have increased in recent decades, especially in older patients. We identified substantial differences between patients admitted to medical and surgical departments.

What are the Soft Tissue Risk Factors for Obstructive Sleep Apnea in Patients with Down's Syndrome?

OBJECTIVE: To determine the risk factors and their respective magnitudes for developing Obstructive Sleep Apnea (OSA) in Down syndrome (DS) patients. DESIGN: Retrospective cohort study. PATIENTS: The 2016 Kids' Inpatient Database (KID) was queried to identify all patients diagnosed with DS. MAIN OUTCOME MEASURES: The primary predictor variables were tonsillar hypertrophy (TH), adenoidal hypertrophy (AH), Hypertrophy of Tonsils & Adenoids (HTA), Laryngeal Stenosis (LS), Hypotonia, Glossoptosis, Congenital Laryngomalacia (CL), and Overweight & Obesity (OO). The primary outcome variable was OSA. RESULTS: The final sample consisted of 18,181 patients with a diagnosis of DS. Relative to patients aged 0-5, patients aged 6-10 (OR 3.5, P < 0.01), 11-5 (OR 3.4, P < 0.01), and 16 & above (OR 3.6, P < 0.01) were each independently associated with increased odds of OSA. Further, TH (OR 23.2, P < 0.01), AH (OR 20.3, P < 0.01), HTA (OR 64.2, P < 0.01), glossoptosis (OR 5.0, P < 0.01), CL (OR 4.3, P < 0.01), and OO (OR 3.7, P < 0.01) were all independent risk factors for OSA. CONCLUSIONS: The presence of hypertrophied tonsils and adenoids together was the strongest risk factor for OSA. DS patients aged six and above were at risk for OSA development relative to younger patients. Patients with DS should be tested for OSA, which otherwise will deteriorate their existing comorbidities.

Transient abnormal myelopoiesis in Down syndrome: Experience of long term follow up from a single tertiary center in Thailand.

Transient abnormal myelopoiesis (TAM) is a unique disease occurring in Down syndrome (DS) infants from which most patients have spontaneous remission. This study aimed to evaluate the incidence and outcomes of TAM in a tertiary center in Thailand. We reviewed the records of 997 DS patients diagnosed between June 1993 and October 2019. From the 997 DS patients, 32 had been diagnosed with TAM. The incidence of TAM was 3.2% and an overall survival rate of 87.5%. A total of 2/28 who survived (7.1%) subsequently developed AML-DS at the ages of 2.1 and 4.5 years, respectively. The risk factors related with death included maternal multiparity, sepsis, skin bleeding, subcutaneous nodules, high WBC count, low hemoglobin, and elevated AST level.Abbreviations.

Does Down syndrome influence the outcomes of congenital cardiac surgery? A systematic review and meta-analysis.

BACKGROUND: Congenital cardiac surgery for individuals with Down syndrome (DS) has historically occurred at a reduced frequency. Little data are available regarding long-term post-congenital cardiac surgical outcomes. Limited sample sizes and clinical heterogeneity require a pooled analysis approach. AIMS: To compare long-term outcomes post-congenital heart surgery between adults with and without DS. METHODS: Databases (Medline, Embase, and PubMed) were searched utilizing terms related to DS and congenital heart disease.Studies that enrolled adults (>18 years) with operated congenital heart disease and compared long-term outcomes with respect to DS presence were included. All study designs were included, but those with limited/peri-operative follow-up, non-English texts, case studies, and literature reviews were excluded.Blinded screening, data extraction, and quality assessment were independently conducted by two reviewers. QUIPS criteria were used for risk of bias analysis. Both random- and fixed-effects models were used for meta-analysis. RESULTS: A total of 23 studies (n = 10 466) were included. Risk of bias was frequently high due to unblinded retrospective study designs and analyses limited in adjustment for other prognostic factors.Meta-analysis demonstrated no effect of DS on long-term mortality [hazard ratio (HR) 0.86, 95% confidence interval (95% CI) 0.6-1.23], to a maximum described follow-up of 38 years. Lower cardiac reoperation risk (HR 0.6, 95% CI 0.46-0.78) for individuals with DS was found on pooled analysis. Meta-analysis was limited by between-study variation. CONCLUSION: DS does not affect post-congenital cardiac surgical survival in adulthood. Reduced reoperation may reflect challenges in assessing functional and symptomatic status and/or concerns regarding perceived reoperation difficulties or likely benefits.