Causes of Hospitalization in Children with Down Syndrome.

Background and Objectives: Down syndrome (DS) is the most common chromosomal disorder in the world. It is caused by the imbalance of the chromosomal constitution of 21 by free trisomy, translocation or mosaicism. Children and adolescents with Down syndrome have immune dysregulation and are more susceptible to infections. This study aims to evaluate hospitalizations of children and adolescents with DS in the pediatric ward of Botucatu Clinics Hospital (HCFMB) and to classify the population of children included in the study according to age, diagnosis, outpatient follow-up, length of stay and need for the intensive care unit (ICU). Thus, it will be possible to improve care for these children, aiming to reduce these hospitalizations. Materials and Methods: This study was an observational, cross-sectional study, with retrospective data collected from the last nine years of hospitalization, from January 2013 to December 2021, from children and adolescents with DS in the pediatric ward, emergency room, and the ICU of HCFMB. Children hospitalized in this period in the pediatric ward and ICU, in the age range of 30 days to 15 years, were included in this study. The evaluation of comorbidities that culminated in the need for hospitalization in this population can be the focus of actions to improve the diagnoses and conducts for this population, which can prevent worsening illness and hospitalizations in future populations. Results: In this analysis, 80 children with DS were evaluated, with a total of 283 hospitalizations. The most prevalent age group was 1 to 3 years, and the main cause was due to problems in the respiratory system (99 cases). Among the respiratory causes, the main cause of hospitalization was due to pneumonia in 50% of cases, followed by acute respiratory failure in 14%. The average hospitalization time was 8 days, and in 49 hospitalizations, the children required the ICU. The main cause of hospitalization in the ICU was due to respiratory causes (36%), followed by cardiac malformations (14%). During the ICU hospitalizations, there were 13 deaths, and we observed a higher prevalence of heart conditions and, in some cases, positive urine cultures in these children. Conclusions: The Hospital serves as a reference for pediatric hospitalizations within its region and beyond, owing to its specialized capabilities. The main causes of hospitalization were those related to the respiratory system and cardiac malformations. Roughly one-third of the children required admission to the intensive care unit.

Scheimpflug Tomographic Indices for Classifying Normal, Down Syndrome and Clinical Keratoconus in Pediatric Patients.

The study aimed to evaluate the precision of different Pentacam indices in diagnosing keratoconus (KC) in pediatric patients with and without Down Syndrome (DS) and determine suitable cutoff values. This prospective multicenter cross-sectional study evaluated 216 eyes of 131 patients aged 6-18 years (mean age 12.5 ± 3.2 years) using Pentacam. Patients were categorized into four groups: KC, forme fruste keratoconus (FK), DS, and control, excluding DS patients with topographic KC. Receiver operating characteristic curves were generated to determine the optimal cutoff points and compare the accuracy in identifying KC and FK in patients with and without DS. In DS patients, corneal morphology resembled KC features. The most effective indices for distinguishing KC in DS patients were the average pachymetric progression index (AUC = 0.961), higher-order aberration of the anterior cornea (AUC = 0.953), anterior elevation (AUC = 0.946), posterior elevation (AUC = 0.947), index of vertical asymmetry (AUC = 0.943), and Belin/Ambrosio enhanced ectasia total derivation value (AUC = 0.941). None of the indices showed good accuracy for distinguishing FK in DS patients. The thresholds of these indices differed significantly from non-DS patients. The results highlighted the need for DS-specific cutoff values to avoid false-positive or false-negative diagnoses in this population.

Impact of orthodontic treatment with aligners on the oral health-related quality of life of patients with trisomy 21.

OBJECTIVE: To assess the impact of treatment with orthodontic aligners (OA) on oral health-related quality of life (OHRQoL) in patients with trisomy 21 (T21) compared to non-syndromic patients. MATERIALS AND METHODS: The sample consisted of 30 patients, both sexes, aged between 11 and 35 years, divided into two groups: T21 (n = 10, patients with T21, treated prospectively) and CONTROL (n = 20, control group, non-syndromic patients, from the Orthodontic Laboratory of UNOPAR). In both groups, patients were treated with Invisalign orthodontic aligners (Align Technology), following the same treatment parameters. Participants, assisted by their caregivers, when necessary, answered Oral Health Impact Profile (OHIP-14) instrument and the patient's guardians answered the Oral Health Scale for People with Down's syndrome (OHDS) instrument, before (T0) and after 30 (T1), 180 (T2), and 365 (T3) days from the start of treatment. Friedman tests with Bonferroni correction and Mann-Whitney tests were used (p < .05). RESULTS: For the OHDS instrument, it was observed that for the eating and communication domains and an overall score, the treatment with OA positively impacted the lives of T21 patients (p < .05). Regarding the OHIP-14 instrument, the intragroup evaluation showed that in the CONTROL group, there was no significant difference between the evaluated times; while for the T21 group, there was a significant positive impact (p < .05). CONCLUSION: The results showed that the treatment with aligners positively impacted the OHRQoL of T21 patients, and these results were perceived by caregivers, mainly in relation to issues related to eating and communication.

Cerebral abscess in Down syndrome: a systematic review on treatment and prognosis. Illustrative case.

BACKGROUND: No universal protocol exists for treating cerebral abscesses in Down syndrome. An illustrative case supplemented with a systematic literature review on brain abscesses in Down syndrome is presented, comprising a total of 16 cases. Preoperative infectious disease workups, cardiac examinations including echocardiography, as well as reported surgical and antibiotic treatments were correlated in the reported cohorts. OBSERVATIONS: Overall, 18.8% of cases (n = 3) had no reported cardiac evaluation. The majority of cases were treated surgically (n = 8), with aspiration (n = 3), drainage (n = 2), or other operations (n = 3); 25% (n = 4) were treated with antibiotics only. Strikingly, 25% of cases (n = 4) reported neither surgical nor antibiotic therapy, a significantly higher rate compared to 0%-3% of patients with brain abscess in other reported cohorts. Half of the patients (n = 8) who died either lacked a cardiac evaluation or had existing heart conditions. This mortality rate was about 4 times higher than the rates observed in other studies. LESSONS: Down syndrome patients with cerebral abscess have a high morbidity rate, mainly due to cardiac disease. Therefore, early diagnostic workup, including echocardiography, allows proactive management with an improved outcome. https://thejns.org/doi/10.3171/CASE23394.

Hueso nasal como marcador de aneuploidías y resultado perinatal / Nasal bone as a marker of aneuploidies and perinatal outcome

Objetivo: Describir el resultado perinatal de los embarazos en función de la evaluación del hueso nasal como marcador de aneuploidía. Métodos: De 1006 embarazadas, 607 cumplieron con los criterios de inclusión para este estudio prospectivo, descriptivo, correlacional no causal donde se correlacionó la ausencia/presencia de hueso nasal con la presencia de síndrome de Down a través de cariotipo fetal prenatal y/o posnatal, así como examen clínico neonatal. Los datos fueron analizados mediantes frecuencias absolutas, porcentajes, capacidad diagnóstica del hueso nasal (índice de Youden), sensibilidad, especificidad, valor predictivo positivo, valor predictivo negativo y cocientes de probabilidad, positivo y negativo. Resultados: La prevalencia de síndrome de Down fue de 1,48 %, la ausencia del hueso nasal como marcador aislado, obtuvo un índice de Youden de 0,55 (0,23 - 0,88), sensibilidad de 55,56 %, especificidad de 99,50 %, valor predictivo positivo de 62,5 %, valor predictivo negativo de 99,33 %, cocientes de probabilidad positivo (hueso nasal ausente) 111 (IC 95 % 31 - 394) y cocientes de probabilidad negativo (hueso nasal presente) de 0,45 (IC 95 % 0,22 -0,93). Conclusión: La ausencia de hueso nasal en primer trimestre aumenta el riesgo de síndrome de Down en 111 veces y la presencia del mismo lo disminuye, sin valor como prueba diagnóstica sino de pesquisa debe considerarse como un marcador secundario(AU)

Objective: To know the perinatal outcome based on nasal bone evaluation as an aneuploidy marker. Methods: From 1006 pregnant women, 607 met the inclusion criteria for this prospective, descriptive, correlational not causal research correlating nasal bone absence / presence with Down syndrome through prenatal / postnatal fetal karyotype and neonatal clinical examination. Absolute frequencies and percentages, nasal bone performance as a diagnostic test (Youden índex), sensitivity, specificity, positive predictive value, negative predictive value, likelihood ratios positive and negative, were calculated. Results: 1.48 % was the Down syndrome prevalence on the sample. The nasal bone absence as an isolated marker obtained an 0,55 Youden index (0.23 to 0.88 ), sensitivity 55,56%, specificity 99,50%, positive predictive value 62,5%, negative predictive value 99,33%, likelihood ratios positive (absent nasal bone) 111, (95% CI 31-394) and likelihood ratios negative (nasal bone present ) 0,45 (95% CI 0 22 -0.93 ). Conclusion: The nasal bone absence in first trimester increases Down syndrome risk 111 times and nasal bone presence decreases it with poor performance as a diagnostic test, so it should be considered a screening test and a secondary marker. Recommendations correlate these results with other markers to improve detection rates and quantify nasal bone measurements in order to make nasal bone nomograms in first trimester pregnancies(AU)

Multiple Aneuploidy: First Report of a Patient Presenting with a Karyotype 45,X/48,XXX,+21.

INTRODUCTION: The dual diagnosis of Down syndrome and Turner syndrome in the same patient was clinically identified in the early 1950s before the development of karyotyping techniques. After that, several authors reported anecdotal patients and/or reviewed series of Down-Turner double aneuploidies due to a regular 46,X,+21 constitution or different combinations of abnormal cell lines. In such cases, the most typical presentation encompasses the female sex, Down syndrome phenotype, and chromosomal mosaicism. CASE PRESENTATION: Here we report a female patient presenting with short stature, dysmorphic features, developmental delay, and learning disabilities, whose karyotype revealed a previously undescribed 45,X[47]/48,XXX,+21[3] constitution. CONCLUSION: This is the first case encompassing these three aneuploidies together and, contrary to most previous reports, exhibiting a predominantly Turner syndrome phenotype associated with developmental delay.

Effects of exercise, physical activity, and sports on physical fitness in adults with Down syndrome: A systematic review.

This systematic review aimed to analyze the effects of exercise, physical activity, and sports on physical fitness in adults with Down syndrome (DS). A literature search was conducted across four databases EBSCO, Scopus, Web of Science, and PubMed. The PRISMA guidelines were followed. The PEDro scale and the Cochrane risk of bias tool were used to assess the quality and risk of the studies, respectively. The protocol was registered in PROSPERO (code: CRD42023449627). Of the 423 records initially found, 13 were finally included in the systematic review, in which 349 adults with DS participated. 92% of the articles declared at least one significant difference post-intervention. The available evidence indicates that exercise, physical activity, and sports have a positive effect on some variables of physical fitness, especially strength, balance, body composition, cardiorespiratory fitness, flexibility, and functional capacity. Furthermore, it should be considered as an additional treatment or complementary therapy to improve the functionality and quality of life of adults with DS.

Down syndrome and postoperative hemodynamics in patients undergoing surgery for congenital cardiac communications.

Although Down syndrome (DS) is considered a risk factor for hemodynamic instabilities (mainly pulmonary hypertension-PH) following surgery for congenital cardiac communications, many DS patients do surprising well postoperatively. We prospectively analyzed perioperative factors for a possible correlation with post-cardiopulmonary bypass (CPB) inflammatory reaction and postoperative PH in pediatric subjects. Sixty patients were enrolled (age 3 to 35 months), 39 of them with DS. Clinical and echocardiographic parameters (anatomical and hemodynamic) were computed preoperatively. Pulmonary and systemic mean arterial pressures (PAP and SAP) were assessed invasively intra and postoperatively. Immediate postoperative PAP/SAP ratio (PAP/SAPIPO) and the behavior of pressure curves were selected as primary outcome. Serum levels of 36 inflammatory proteins were measured by chemiluminescence preoperatively and 4 h post CPB. Of all factors analyzed, peripheral oxygen saturation (O2Sat, bedside assessment) was the only preoperative predictor of PAP/SAPIPO at multivariate analysis (p = 0.007). Respective values in non-DS, DS/O2Sat ≥ 95% and DS/O2Sat < 95% subgroups were 0.34 (0.017), 0.40 (0.027) and 0.45 (0.026), mean (SE), p = 0.004. The difference between non-DS and DS groups regarding postoperative PAP curves (upward shift in DS patients, p = 0.015) became nonsignificant (p = 0.114) after adjustment for preoperative O2Sat. Post-CPB levels of at least 5 cytokines were higher in patients with O2Sat < 95% versus those at or above this level, even within the DS group (p < 0.05). Thus, a baseline O2Sat < 95% representing pathophysiological phenomena in the airways and the distal lung, rather than DS in a broad sense, seems to be associated with post-CPB inflammation and postoperative PH in these patients.

Compromiso inmunológico en pacientes con síndrome de Down. Serie de casos / Immune compromise in patients with Down syndrome. A case series

El síndrome de Down, o trisomía 21, tiene una mortalidad mayor que la población general, debido principalmente a infecciones respiratorias. El objetivo de este trabajo es describir el compromiso inmunológico en una serie de casos de pacientes con síndrome de Down derivados a Inmunología por infecciones recurrentes o por hallazgo patológico de laboratorio, entre el 1 de junio de 2016 y el 31 de mayo de 2022. Se describe el compromiso de la inmunidad en 24 pacientes. Doce pacientes presentaron falla de respuesta a polisacáridos y recibieron quimioprofilaxis antibiótica y/o gammaglobulina sustitutiva. En 3 pacientes, se observó agammaglobulinemia con linfocitos B presentes y se indicó gammaglobulina sustitutiva. En 9 pacientes, se observó linfopenia T y en 1 paciente, compromiso inmune combinado.

Down syndrome, or trisomy 21, has a higher mortality than the general population, mainly due to respiratory tract infections. The objective of this study was to describe immune compromise in a series of cases of patients with Down syndrome referred to the Pediatric Immunology Section due to recurrent infections or pathological laboratory findings between 6/1/2016 and 5/31/2022. Here we describe immune compromise in 24 patients. Twelve patients failed to develop a polysaccharide response and received antibiotic chemoprophylaxis, or gamma globulin replacement therapy. Three patientsdeveloped agammaglobulinemia with presence of B cells and gamma globulin replacement therapy was indicated. Nine patients had T-cell lymphopenia and 1 patient, combined immune compromise.

ABCD syndrome, an uncommon cause of hypercalcemia in pediatrics. / Síndrome ABCD, una causa infrecuente de hipercalcemia en pediatría.

ABCD syndrome (ABnormal Calcium, Calcinosis, and Creatinine in Down syndrome) is characterized by an association of hypercalcemia, hypercalciuria, nephrocalcinosis, and impaired kidney function in patients with Down syndrome. Only 7 cases have been published worldwide, although it is believed to be underdiagnosed. This report describes 2 new patients with ABCD syndrome and compares them with the cases reported to date. Although it is a rare cause of pediatric hypercalcemia, it should be considered in children with Down syndrome once other more common etiologies have been ruled out. Once this diagnosis is confirmed, the recommended treatment is to reduce dietary calcium intake and work with an interdisciplinary team to maintain an adequate calorie and protein intake.

El síndrome ABCD (por sus siglas en inglés, ABnormal Calcium, Calcinosis and Creatinine in Down syndrome) se caracteriza por la asociación de hipercalcemia, hipercalciuria, nefrocalcinosis y alteración de la función renal en pacientes con síndrome de Down. Existen solo 7 casos previamente publicados en el mundo, aunque se cree que está subdiagnosticado. En este reporte, presentamos 2 nuevos pacientes con este síndrome y realizamos una comparación con los casos informados hasta el momento. Si bien es una causa rara de hipercalcemia pediátrica, debe considerarse en niños con síndrome de Down una vez descartadas otras etiologías más frecuentes. Al confirmarse este diagnóstico, el tratamiento recomendado es la reducción de calcio en la dieta, trabajando de manera interdisciplinaria para mantener un aporte calórico proteico adecuado.

Cytokine levels in the gingival crevicular fluid and their association with periodontal status of down syndrome patients: a cross-sectional study.

OBJECTIVE: To evaluate cytokine levels of interleukin (IL)-1ß, IL-4, IL-6, IL-17a, tumor necrosis factor (TNF)-α, and interferon (IFN)-γ in the gingival crevicular fluid (GCF) of periodontal sites in individuals with Down syndrome (DS) and analyze their relationship with clinical periodontal parameters. MATERIALS AND METHODS: A cross-sectional study was conducted with 49 DS patients and 32 individuals without DS (non-DS group). Periodontal probing depth (PPD), clinical attachment level (CAL), bleeding on probing (BoP), and visible plaque index (VPI) were evaluated. The periodontal sites were classified as shallow, moderate, and deep. GCF was collected in all shallow sites and, when present, in moderate and deep sites for the analysis of cytokine levels. The cytokines, IL-1ß, IL-4, IL-6, IL-17a, TNF-α, and IFN-γ, were quantified using the Luminex® automatic analyzer system. RESULTS: The DS group presented greater severity of periodontitis compared to the non-DS group (P = 0.005). The DS group showed a significant direct correlation of IL-1ß and an inverse correlation of IFN-γ and IL-14 with all periodontal variables. In the analysis stratified by periodontal pocket depth, we observed a higher level of IFN-γ, IL-17a, IL-1ß, and IL-6 in the shallow sites, and IL-17a, IL-1ß, and IL-6 in deep pockets of DS group individuals. Multivariate models showed that higher levels of IL-1ß, IL-4, IL-6, and IL-17a were associated with Down syndrome even after adjusting for periodontal status, sex, and age. CONCLUSION: The findings suggest that people with DS have greater periodontal impairment and higher levels of cytokines in GCF, even in sites having clinical periodontal parameters similar to those of individuals without DS. These data reiterate the concept of an altered and less effective immune response in the population with DS in the face of a periodontal microbial challenge. CLINICAL RELEVANCE: Elevated periodontal inflammation burden can be observed with higher cytokine levels in the gingival crevicular fluid of people with Down syndrome, especially IL-1, IL-4, IL-6, and IL-17, regardless of the stage of periodontitis.

MTHFR 677C>T and 1298A>C Variants in Mothers of Infants with Down Syndrome from Western Mexico.

Background: Several studies in mothers of infants with Down syndrome (DS) (MoIDS) have suggested that the 677C>T and 1298A>C variants of the 5,10-methylentetrahydrofolate reductase (MTHFR) gene can increase the risk of having a child with DS. Aim: This study aimed to evaluate the MTHFR 677C>T and 1298A>C variants as potential maternal risk factors for DS. Materials and Methods: Using TaqMan allelic discrimination assay, we genotyped 95 MoIDS and 164 control mothers from western Mexico. Data were analyzed using logistic regression analysis. Results: We found that MoIDS had a significantly higher risk for the MTHFR 677TT genotype (adjusted odds ratio [aOR] = 3.4, 95% confidence interval [95% CI]: 1.1-10.6), and the MTHFR 677T allele (aOR = 1.5, 95% CI: 1.0-2.3), particularly in MoIDS <35 years of age. Conclusions: Our findings indicate that the presence of the 677TT genotype and 677T allele of the MTHFR 677C>T variant are maternal risk factors for DS in Mexican MoIDS.

Feeding practices and dietary intake in Brazilian children with Down syndrome: A cross-sectional study.

BACKGROUND: Studies investigating the quality of the diet and dietary intake of children with Down syndrome (DS) are required because the features attributed to the syndrome can affect growth, development and quality of life. METHODS: This cross-sectional study was conducted with 77 Brazilian children with DS between 5 and 36 months of age receiving care at the multidisciplinary outpatient clinic of the University Hospital. Participants' sociodemographic, dietary and anthropometric data were collected from the care protocols. Dietary data were collected from 24-h recalls and dietary practices were assessed according to the WHO dietary guidelines. Associations between inadequate feeding practices and demographic variables were assessed using logistic regression models. RESULTS: Fruits, milk or infant formula, vegetables, beans and meat were among the five most consumed foods by the children investigated. Overall, we observed a high number of cases of early weaning (50.6%), low minimum dietary diversity (MDD; 40.3%), inadequate consistency for age (64.9%), early presence of ultra-processed foods (76.6%), sugars and sweets (33.8%) in the diet of the children with DS. In the associations of inadequate feeding practices by age group, low MDD [odds ratio (OR): 18.6; 95% confidence interval (CI): 3.4; 57.1] and inadequate consistency (OR: 6.65; 95% CI: 1.8; 24.7) were more frequent among children aged below 12 months while this relationship was inverse for early introduction of sugar and sweets (OR: 0.04; 95% CI: 0.01; 0.29). CONCLUSION: Our findings showed a high number of cases of inadequate dietary practices in children with DS investigated, which could adversely affect the long-term health of this population.

Focused attention and intrinsic motivation using animations for instruction of fundamental motor skills in children with Down syndrome.

BACKGROUND: Children with Down syndrome (DS) demonstrate poorer performance in locomotor and ball skills than children with typical development. During motor assessment, keeping children's attention and motivation is challenging, especially for children with DS, which may affect the test outcomes. This study aimed first to examine the impact of examiner and App-animation demonstrations during the assessment on the performance of fundamental motor skills, focus of attention and intrinsic motivation for children with DS and neurotypical development (NTD). The secondary aim was to examine the differences in those outcomes between children with DS and neurotypical development. METHODS: A sample of 24 children (10 with DS and 14 with NTD) aged between 3 and 10 years were subjected to two motor performance assessment protocols: a traditional protocol using the Gross Motor Development Test-3 (TGMD-3) and a protocol using animations from an application as support for TGMD-3 (AppP). The focus of attention was obtained from video recordings during protocol instruction (number of eye shifts, eye shift time, instruction focus time, number of instructions required and total instruction time). Intrinsic motivation was assessed by the Intrinsic Motivation Inventory (IMI) at the end of each protocol. RESULTS: The results showed no significant differences between the protocols for locomotor skills, ball skills and gross motor index. However, children with NTD outperformed those with DS in these skills. When analysing the focus of attention, children with DS showed greater ocular deviations and longer instruction time requested in the traditional protocol compared with AppP, even when compared with NDT children. When comparing protocols in both groups, AppP demonstrated fewer ocular deviations and shorter ocular deviation times. Regarding intrinsic motivation, children with DS in the traditional protocol had lower motivation scores than those with NTD. Regarding the purchase of protocols, in both groups, the AppP presented higher scores for interest/pleasure, perceived competence and general motivation, with lower pressure/tension. CONCLUSION: The animated application (AppP) proved effective as a visual support during the TGMD-3 assessment, particularly benefiting children with DS by enhancing motivation and attention.

Fetal hemodynamics and placental histopathology in Down syndrome.

OBJECTIVE: To evaluate the association between Doppler patterns in fetuses with Down syndrome (DS) and their placental histopathologic findings. METHODS: A retrospective cross-sectional study was performed by collecting data from medical records of singleton pregnancies between January 2014 and January 2022, whose fetuses had a confirmed diagnosis of DS either prenatally or postnatally. Placental histopathology, maternal characteristics, and prenatal ultrasound (biometric parameters and umbilical artery [UA] Doppler) were evaluated. RESULTS: Of 69 eligible pregnant women, 61 met the inclusion and exclusion criteria. In the sample, 15 fetuses had an estimated fetal weight < 10th percentile for gestational age (GA) and were considered small for gestational age (SGA). Thirty-eight fetuses had increased resistance on the UA Doppler. Histologic changes were detected in 100% of the placentas, the most common being delayed villous maturation, alterations associated with poor fetal vascular perfusion, and villous dysmorphism. More than 50% of the placentas showed alterations related to placental insufficiency. We did not observe a statistically significant association between UA Doppler examination and placental alterations. All placentas analyzed in the SGA subgroup showed findings compatible with placental insufficiency. CONCLUSION: We found no statistically significant association between placental histopathologic findings and UA Doppler abnormalities in fetuses with DS. The placental alterations identified were delayed villous maturation, alterations associated with poor fetal vascular perfusion, and villous dysmorphism.

[Inequalities in time to diagnosis of Down Syndrome in Bolivia]. / Desigualdades en el tiempo hasta el diagnóstico del síndrome de Down en Bolivia.

Down Syndrome is the most common genetic condition and a leading cause of intellectual disability. Individuals in rural areas, particularly those with disabilities, often face disparities in healthcare access. Analyzing clinical records of patients diagnosed with Down Syndrome between 2013 and 2022 by the Institute of Genetics at the Universidad Mayor de San Andrés in La Paz, Bolivia, this study examined the time to diagnosis for 250 patients with Down Syndrome. The findings revealed that patients from rural areas with Down Syndrome take an average of five months to receive a diagnosis, compared to two months in urban areas (p<0.001). No significant differences were found in the time to diagnosis based on gender. However, a higher proportion of males from rural areas was observed (p=0.03). The results suggest that individuals in rural areas face challenges in receiving a timely diagnosis. On the other hand, women may not be brought to cities for proper diagnosis and treatment due to gender biases in certain communities. The importance of improving access to early diagnosis and treatment in rural areas is emphasized.

El síndrome de Down es la condición genética más común y una causa principal de discapacidad intelectual. Las personas en áreas rurales, especialmente aquellas con discapacidades, a menudo enfrentan desigualdades en el acceso a la salud. A partir de los registros clínicos de pacientes con diagnóstico confirmado de síndrome de Down entre 2013 y 2022, por el Instituto de Genética de la Universidad Mayor de San Andrés, La Paz, Bolivia, se analizó, analizó el tiempo hasta el diagnóstico de 250 pacientes con síndrome de Down, mostró que los pacientes procedentes de áreas rurales con síndrome de Down tardan cinco meses en promedio en recibir un diagnóstico, comparado a los dos meses en zonas urbanas (p<0,001). No se encontraron diferencias significativas en el tiempo hasta el diagnostico según el sexo. Sin embargo, se evidenció una mayor proporción de varones provenientes de áreas rurales (p=0,03). Los hallazgos sugieren que los individuos de áreas rurales enfrentan dificultades para recibir el diagnóstico. Por otro lado, las mujeres quizás no sean llevadas a ciudades para un diagnóstico y tratamiento adecuado debido a sesgos de género en ciertas comunidades. Se subraya la importancia de mejorar el acceso a diagnósticos y tratamientos tempranos en áreas rurales.

Reliability and Acceptability to Caregivers of Telehealth Administration of the Pediatric Evaluation of Disability Inventory - Computer Adaptive Test (PEDI-CAT) for Brazilian Youth with Down Syndrome.

Purpose: To estimate test-retest reliability of the two versions of the PEDI-CAT administered via telehealth to caregivers of Brazilian young people with DS, to compare scores on the two versions, and to determine caregiver acceptance of telehealth administration of the assessment. Method: A methodological study approved by the research ethics committee. Data collection was performed online, with a mean duration of 45.0 minutes for the content-balanced version of the PEDI-CAT and 17.5 minutes for the speedy version. Results: In total, 28 caregivers of individuals with DS up to age 21 years participated (mean = 5.9 years; SD = 4.9 years). Intra-class correlation coefficients for the four domains of the PEDI-CAT content-balanced version and four domains of the PEDI-CAT speedy version ranged from 0.77 to 0.97. There was a statistical difference between the versions in the scores of the social-cognitive domain (p < 0.05). A mean of 105 items (SD = 21) was administered in the content-balanced version and a mean of 51 items (SD = 8) in the speedy version. All the caregivers found the method of administration of the PEDI-CAT acceptable. Conclusions: This study demonstrated that either version of the Brazilian version of the PEDI-CAT can be used by telehealth in clinical practice to assess children, adolescents, and young adults with DS.

Objectif: évaluer la fiabilité test-retest de deux versions du rapport PEDI-CAT utilisé lors de services de télésanté auprès de proches de jeunes brésiliens ayant le syndrome de Down (SD) afin de comparer les scores des deux versions, et déterminer l'acceptation des proches à procéder à cette évaluation par services de télésanté. Méthodologie: étude méthodologique approuvée par le comité d'éthique de la recherche. La collecte des données a été effectuée en ligne et a duré en moyenne 45,0 minutes pour ce qui est de la version au contenu équilibrée du rapport PEDI-CAT et 17,5 minutes pour ce qui est de la version abrégée. Résultats: Au total, 28 proches de personnes de 21 ans ou moins ayant le SD ont participé (moyenne = 5,9 ans; ÉT = 4,9 ans). Le coefficient de corrélation intraclasse des quatre domaines de la version au contenu équilibré du rapport PEDI-CAT et des quatre domaines de la version abrégée du rapport PEDI-CAT se situait entre 0,77 et 0,97. Le score des deux versions comportait une différence statistique dans le domaine sociocognitif (p < 0,05). En moyenne, 105 points (ÉT = 21) ont été évalués dans la version au contenu équilibré, et 51 (ÉT = 8) dans la version abrégée. Tous les proches ont trouvé la méthode d'utilisation du rapport PEDI-CAT acceptable. Conclusions: la présente étude démontre que les deux versions du rapport PEDI-CAT brésilien peuvent être utilisées lors de services de télésanté en pratique clinique pour évaluer les enfants, les adolescents et les jeunes adultes ayant le SD.

A systematic review and meta-analysis of serum lipid concentrations in people with Down syndrome.

BACKGROUND: Down syndrome (DS) is the most prevalent chromosomal disorder, being the leading cause of intellectual disability. The increased life expectancy of individuals with DS has led to a shift in the incidence of non-communicable chronic diseases, resulting in new concerns, particularly cardiovascular disease (CVD) and Alzheimer's disease. This study aimed to analyse the blood lipid profile of a large DS cohort to establish a baseline for evaluating health risk parameters. METHODS: A comprehensive literature search was conducted on PubMed and Virtual Health Library databases to identify original articles published before July 2022. Selected studies were included in the meta-analysis. RESULTS: Fifteen studies reporting serum lipid levels in individuals with DS were incorporated into the analysis. The meta-analysis used the means and standard deviations extracted from the selected studies. The analysis encompassed 671 participants in the DS group and 898 euploid controls. The results indicated significant differences in total cholesterol [C] (mean difference [MD]: -3.34; CI: 95%: -4.94 to -1.73; P < 0.0001), HDL-C (MD: -3.39; CI: 95%: -6.72 to -0.06; P = 0.05) and triglycerides (MD: 21.48; CI: 95%: 9.32 to 33.65; P = 0.0005) levels between individuals with DS and their control counterparts. CONCLUSIONS: Individuals with DS have less favourable blood lipid concentrations than their controls, particularly HDL-C, triglycerides, and total-C, even when grouped by age. These findings underscore the importance of closer monitoring of lipid profiles in people with DS and the necessity for specific cut-offs for this population, considering the risk for ischemic heart and Alzheimer's diseases.

Relationship between sensory processing patterns and gross motor function of children and adolescents with Down syndrome and typical development: a cross-sectional study.

BACKGROUND: Children and adolescents with Down syndrome (DS) may experience impairments in sensory and motor skills that can be interrelated. The purposes of this study were (i) to compare the sensory processing patterns and gross motor function between children and adolescents with DS and with typical development (TD) and (ii) to explore associations between these areas in both DS and TD groups. METHOD: This cross-sectional study involved a sample size of 25 participants with DS (mean age 10.24 ± 2.04 years) and 25 participants with TD (mean age 10.04 ± 2.82 years). The sensory processing patterns were assessed using the Sensory Profile Second Version questionnaire, and the gross motor function was measured with the Gross Motor Function Measure (GMFM-88) dimensions (D) standing, and (E) walking, running, and jumping. Differences between groups were tested using the Mann-Whitney test, and the relationship between the variables was examined using Spearman's correlation tests, with a significance level set at 5%. RESULTS: Children with DS showed greater difficulties with sensory processing than TD children in Seeker (P < 0.001), Avoider (P < 0.001), Sensitivity (P < 0.001), Registration (P < 0.001), Auditory (P < 0.001), Touch (P = 0.001), Movements (P = 0.001), Oral (P = 0.028), Conduct (P = 0.005), Socioemotional (P < 0.001), and Attentional (P < 0.001) domains. Additionally, children with DS presented lower gross motor function than TD in GMFM-88, standing (P < 0.001) and walking, running, and jumping (P < 0.001). Correlations were found between greater difficulties with sensory processing in Touch and lower gross motor function in walking, running, and jumping for the DS group. CONCLUSION: Our results suggest there are more difficulties in sensory processing patterns and gross motor function in children with DS than in TD. Also, there is a single association between more difficulties in sensory processing and less well-developed motor function in the DS group. Therefore, a comprehensive assessment of all these aspects should be performed in children and adolescents with DS, along with the provision of relevant interventions addressing specific needs.

Enhancing Speech Rehabilitation in a Young Adult with Trisomy 21: Integrating Transcranial Direct Current Stimulation (tDCS) with Rapid Syllable Transition Training for Apraxia of Speech.

Apraxia of speech is a persistent speech motor disorder that affects speech intelligibility. Studies on speech motor disorders with transcranial Direct Current Stimulation (tDCS) have been mostly directed toward examining post-stroke aphasia. Only a few tDCS studies have focused on apraxia of speech or childhood apraxia of speech (CAS), and no study has investigated individuals with CAS and Trisomy 21 (T21, Down syndrome). This N-of-1 randomized trial examined the effects of tDCS combined with a motor learning task in developmental apraxia of speech co-existing with T21 (ReBEC RBR-5435x9). The accuracy of speech sound production of nonsense words (NSWs) during Rapid Syllable Transition Training (ReST) over 10 sessions of anodal tDCS (1.5 mA, 25 cm) over Broca's area with the cathode over the contralateral region was compared to 10 sessions of sham-tDCS and four control sessions in a 20-year-old male individual with T21 presenting moderate-severe childhood apraxia of speech (CAS). The accuracy for NSW production progressively improved (gain of 40%) under tDCS (sham-tDCS and control sessions showed < 20% gain). A decrease in speech severity from moderate-severe to mild-moderate indicated transfer effects in speech production. Speech accuracy under tDCS was correlated with Wernicke's area activation (P3 current source density), which in turn was correlated with the activation of the left supramarginal gyrus and the Sylvian parietal-temporal junction. Repetitive bihemispheric tDCS paired with ReST may have facilitated speech sound acquisition in a young adult with T21 and CAS, possibly through activating brain regions required for phonological working memory.