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Most people with intellectual disabilities have comorbid health conditions, which will impact optimization of sporting performance. Classification is used in Paralympic events to ensure that those with similar levels of functional ability compete fairly against each other. An evidence-based approach needs to be developed for athletes with intellectual disabilities to be classified in relation to their overall functional capacity into competition groups of similar ability. This research builds on previous work using the taxonomy of The International Classification of Functioning, Disability and Health (ICF) to group athletes with intellectual disabilities into comparable competition groups as an approach to Paralympic classification. Three groups of athletes—Virtus, Special Olympics, and Down syndrome—are compared using the ICF questionnaire indicating functional health status in relation to sporting performance. The questionnaire was found to discriminate between athletes with Down syndrome and other athletes, and an approach to using a cutoff score to develop competition classes is explored. [ABSTRACT FROM AUTHOR]

Purpose: The categorization of silent intervals during speech production is necessary for accurate measurement of articulation rate and pauses. The primary purpose of this preliminary study was to examine the within-word silent interval associated with the stop closure in word-final stop consonants produced by children with and without neurodevelopmental disorders. Method: Seven children diagnosed with either cerebral palsy or Down syndrome (i.e., children with neurodevelopmental disorders) and eight typically developing children produced a reading passage. Participants were between the ages of 11 and 16 years. Fifty-eight words from the reading passage were identified as having word-final stop consonants. The closure duration of the word-final stop consonant was calculated, both in absolute duration and percent pause time. The articulation rate of the entire passage was calculated. The number of closure durations that met or exceeded the minimum duration threshold to be considered a pause (150 ms) was examined descriptively. Results: Children with neurodevelopmental disorders produced significantly longer closure durations and significantly slower articulation rates than typically developing children. Children with neurodevelopmental disorders produced closure durations that met or exceeded the minimum duration threshold of a pause, but typically developing children, generally, did not. Conclusion: These data indicate the need to examine the location of silent intervals that meet the minimum duration threshold of a pause and correct for articulatory events during the measurement of articulation rate and pauses in children with neurodevelopmental disorders. [ABSTRACT FROM AUTHOR]

Purpose: Dyadic synchrony is positively associated with social competence. Although children diagnosed with Autism Spectrum Disorder (ASD) and children diagnosed with Down Syndrome (DS) both have trouble with dyadic synchrony, the origin of their difficulties is fundamentally different. In this mixed method study, we investigated differences in dyadic synchrony and social behavior between children diagnosed with ASD and DS. Methods: Twenty-seven children diagnosed with ASD (10 cisgender females; Mage = 10.98 years; SD = 2.21) and twenty-five children diagnosed with DS (11 cisgender females; Mage = 11.91 years; SD = 2.27) performed a collaborative drawing task with a parent in which they had to synchronize their drawing movements. We continuously tracked their dominant hand movements using wearable accelerometers, and performed Cross-Recurrence Quantification Analysis to extract synchrony measures. Additionally, we compared the social behaviors (interpersonal synchrony, emotion regulation, and social cognition, motivation, and confidence) of these children using quantitative parental questionnaires. Results: Parent-child synchrony measures were significantly higher for children diagnosed with ASD. Yet, parents were significantly more positive about the social behaviors of children diagnosed with DS. No significant correlation between the synchrony and questionnaire measures was found. Conclusion: While children diagnosed with ASD synchronize better during a collaborative task, the social behavior of the children diagnosed with DS (including social synchrony) is more positively evaluated by their parents. Possible reasons for this discrepancy are discussed. [ABSTRACT FROM AUTHOR]

Introduction: This article reports the physical abilities and physical wellness of three groups of children with different neurodevelopmental disabilities: Autism, Down Syndrome and Intellectual Disability. Methods: The causal-comparative research method was implemented in this study. The participants comprised 32 students with moderate intellectual disabilities, 18 with autism spectrum disorder, and 22 with down syndrome. The body mass index (BMI), flexibility, standing long jump, sitting height, stroke length, and medicine ball throwing levels were measured for physical fitness, and the groups were compared afterward. The Kruskal Wallis-H Test and Mann-Whitney U Test were applied to determine the differences between the groups' physical fitness averages for the statistical analysis. Results: Statistically significant differences were obtained in BMI, standing long jump, stroke length, and medicine ball throwing variables (p < 0.05). However, no statistically significant difference was discovered for the flexibility and sitting height variables (p > 0.05). The BMI, sitting height, and stroke length levels for the group with autism spectrum disorder were higher than the other groups, as the flexibility levels of the group with down syndrome were higher than the other groups. Students with intellectual disabilities were demonstrated to have better values than other groups regarding standing long jump and medicine ball throwing performances. Conclusions: Objective information about the physical fitness of individuals with children with different neurodevelopmental disabilities was obtained. In addition, the data obtained with these children will contribute to future plans for movement training as well as the content and frequency of the interventions, and will guide the development of new strategies to develop physical abilities and physical wellness. [ABSTRACT FROM AUTHOR]

This study aimed to learn about the experiences of families of individuals with a dual diagnosis of Down syndrome (DS) and autism spectrum disorder (ASD) (DS-ASD), and to document the journey from early concerns to diagnosis and intervention. Caregivers completed an online survey describing their journey raising a child with DS-ASD. Survey responses were analyzed qualitatively and coded into categories to highlight common themes. Stereotypy, severe communication impairments, and behavioral difficulties prompted caregivers to pursue further evaluation. There was a mean 4.65-year gap between first noticing symptoms and receiving an ASD diagnosis. Several therapeutic interventions were identified as beneficial, including behavioral and communication support. Caregivers expressed frustration and described high levels of stress and social isolation. The diagnosis of ASD in children with DS is often delayed, and caregivers' initial concerns are frequently dismissed. Raising a child with DS-ASD can lead to social isolation and elevated caregiver stress. More research is needed to tailor diagnostic algorithms and therapeutic interventions to the unique needs of this patient population. Caregivers yearn for improved understanding of DS-ASD, more targeted therapies and educational programs, and more overall support. [ABSTRACT FROM AUTHOR]

Purpose: This study aims to evaluate the health literacy level of the parents of children diagnosed with Down syndrome (DS) within one institution in Turkey. Design/methodology/approach: A cross-sectional survey measuring demographics, information of the child and the parent and health literacy was administered to participants. The health literacy levels in the study were measured with the European Health Literacy Scale (EHLS), which consists of 47 questions. Findings: Of the 65 participants who completed the questionnaire, 56.9% were mothers, 68.1% were diagnosed in the neonatal outpatient clinic examination after birth, and 58.5% stayed in the neonatal intensive care unit after birth. The mean score of the IHLS scale was 25.06 ± 6.59. Of the parents, 63.1% were found to be inadequate, 18.5% problematic-limited, and 18.5% adequate health literate. Any parent with excellent health literacy level was identified. High education level (p < 0.001), high income level (p < 0.001), living in the city center (p < 0.05), planned pregnancy (p < 0.05) and being a health worker (p < 0.001) were found to be statistically significant with a high EHSL score. Research limitations/implications: The presence of Down syndrome (DS) in a child also necessitates ongoing monitoring for a range of conditions, including eye diseases and heart disease. Some surgical procedures, such as heart or gastrointestinal surgeries, may also be required. Additionally, the child may require the administration of various medications. Finally, due to the potential lifelong need for assistance, the child may require the support of an adult throughout their lifetime. This is because of the child's inability to live independently due to their mental state. Therefore, parent education is the most important issue in the follow-up of the disease. Practical implications: To the best of the authors' knowledge, this is the first study to determine that parents of children diagnosed with DS have very limited knowledge of the disease and health literacy. Explanation of current diseases, treatments and training of parents should also be included in genetic counseling. Social implications: DS is a chromosomal disease that requires multidisciplinary care. Parents have to know the course of the disease and its complications. Originality/value: The findings of this study indicate that parents of children with Down syndrome exhibit a profound lack of knowledge regarding the nature of their child's condition and the available healthcare options. It is therefore imperative that genetic counseling incorporates an explanation of the diagnosed diseases, treatments, and educational resources for parents. [ABSTRACT FROM AUTHOR]

Aim: To investigate the detectability of noninvasive prenatal screening (NIPS) with conventional sequencing depth to detect fetal copy number variants. Methods: We performed a retrospective study in a total of 19 144 pregnant women. Their cell‐free plasma DNA were assessed for trisomy 21, trisomy 18, trisomy 13, sex chromosome aneuploidies, and genome‐wide copy number variants by NIPS at conventional sequencing depth. Results: Three hundred seventy‐four cases (2.0%, 374/19 144) with abnormal results were detected, which including 84 cases (0.4%, 84/19 144) with high risk of trisomy 21, 18, and 13, 90 cases (0.5%, 90/19 144) with high risk of sex chromosome abnormalities (SCA), and 44 cases (0.2%, 44/19 144) with high risk of other chromosome aneuploidies. One hundred fifty‐six cases (0.8%, 156/19 144) with high risk of copy number variations (CNVs) were also detected. In following prenatal diagnosis, composite positive predictive value (PPV) of trisomy 21, 18, and 13 was 69.6% (48/69). The PPV of SCAs was 37.3% (19/51). And the PPVs for CNVs was detected as 51.0% (<5 Mb), 71.4% (5 Mb ≤ CNV ≤10 Mb), 56.5% (>10 Mb). Finally, a follow‐up about the pregnancy outcomes were conducted for all available cases. Conclusions: NIPS yielded high PPVs for trisomy 21, 18, and 13 aneuploidies and moderate PPVs for SCAs and CNVs. The screening effectiveness was closely related to the size of CNV fragments. Larger CNVs, especially larger than 5 Mb, could be detected more accurately by NIPS in our analytic technique. Meanwhile, diagnostic confirmation by microarray analysis was highly recommended. [ABSTRACT FROM AUTHOR]

Copyright of Ümraniye Pediatri Dergisi is the property of KARE Publishing 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.)

Objective Both high altitude and trisomy 21 (T21) status can negatively impact respiratory outcomes. The objective of this study was to examine the association between altitude and perinatal respiratory support in neonates with T21 compared with those without T21. Study Design This retrospective cohort study used the United States all-county natality files that included live, singleton, in-hospital births from 2015 to 2019. Descriptive statistics for neonates with and without the primary outcome of sustained assisted ventilation (>6 hours) were compared using t -tests and Chi-squared analyses. Multivariable logistic regression was used to determine the association between respiratory support and the presence of T21, and included an interaction term to determine whether the association between respiratory support and the presence of T21 was modified by elevation at delivery. Results A total of 17,939,006 neonates, 4,059 (0.02%) with T21 and 17,934,947 (99.98%) without, were included in the study. The odds of requiring sustained respiratory support following delivery were 5.95 (95% confidence interval [CI]: 5.31, 6.66), 4.06 (95% CI: 2.39, 6.89), 2.36 (95% CI: 1.64, 3.40), and 5.04 (95% CI: 1.54, 16.54) times as high for neonates with T21 than without T21 when born at low, medium, high, and very high elevations, respectively. The odds of requiring immediate ventilation support following delivery were 5.01 (95% CI: 4.59, 5.46), 5.90 (95% CI: 4.16, 8.36), 2.86 (95% CI: 2.15, 3.80), and 12.08 (95% CI: 6.78, 21.51) times as high for neonates with T21 than without T21 when born at low, medium, high, and very high elevation, respectively. Conclusion Neonates with T21 have increased odds of requiring respiratory support following delivery when compared with neonates without T21 at all categories of altitude. However, the odds ratios did not increase monotonically with altitude which indicates additional research is critical in understanding the effects of altitude on neonates with T21. Key Points Neonates with T21 have an increased need for perinatal respiratory support at all altitudes. The odds of needing perinatal respiratory support did not increase monotonically with elevation. Additional research is critical to understanding the effects of altitude on neonates with T21. [ABSTRACT FROM AUTHOR]

Objectives: Down syndrome (DS) is a genetic disorder that causes many problems for the affected person and his or her family. The present study aimed to investigate the effect of resilience training on the stress of mothers of students with DS. Methods: This study is a non-randomized clinical trial conducted on 36 mothers of students with DS studying at Shahid Rajaieh School, Tehran. They were selected by a convenience sampling method and divided into the control and intervention groups. Resilience skill training intervention was performed in ten sessions for the intervention group. The instruments used in the present study included a demographic questionnaire and a parenting stress index. Data were analyzed using SPSS software, version 18. Results: Before training resilience skills, no significant difference was observed between the mean stress scores in mothers of the intervention and control groups. After the training program, there was a significant difference between the mean stress scores of the two groups. Discussion: Training resilience skills can reduce stress in mothers of children with DS. [ABSTRACT FROM AUTHOR]

Objective: The purpose was to evaluate the effectiveness of a non-invasive prenatal test (NIPT) using mass parallel sequencing (MPS) to detect trisomy 13, 18, 21 and fetal sex chromosome abnormalities in maternal blood samples by isolating freely circulating foetal extracellular DNA (eDNA), and to develop an algorithm for prenatal screening. Material and Methods: The research methods used included blood sampling from patients, isolation of eDNA, determination of DNA concentration and quality, library preparation for sequencing, MPS using an Illumina HiSeq2000, positive and negative control samples, monitoring, and analysis of results using the distributed algorithms platform based on calculations of z-value and the average absolute deviation. Pregnant women were divided into two groups based on gestational age at sampling, group 1; 9-14 weeks and group 2; 15-27 weeks. Results: A total of 377 pregnant women were included with a mean (range) age of 33 (23-44) years. The mean gestational age at the time of blood sampling in group 1 was 11 (9-14) weeks, and in group 2 was 21 (15-27) weeks. In the first group, three cases of trisomy 18 chromosomes were detected in patients aged 43 years old, and female children were subsequently born with Edwards syndrome. In the second group, one case of trisomy 21 was detected in a patient aged 36 years and the pregnancy was terminated at 25 weeks. Conclusion: The analysis of freely circulating foetal eDNA was a sensitive method for detecting chromosomal abnormalities. The study has a practical significance, since the NIPT for frequent aneuploidy considerably exceeds the effectiveness of traditional screening methods and allows identifying chromosomal disorders starting from the 9th week of the gestation period. [ABSTRACT FROM AUTHOR]

Early math skills predict later academic achievement and are of critical importance in preschool. There also are discrepancies in early math skills of preschoolers with disabilities compared with their typically developing peers. We used an experimental single-case research design, multiple probe across skills, to investigate the effectiveness of systematic modeling with mathematical language and a prompting procedure on increasing the early math skills of two preschoolers with disabilities or delays. A functional relation was observed for one participant. Equivocal findings may be due to the following: (a) challenges in assessing early math skills, which may have affected the identification of appropriate target skills, and (b) the involvement of multiple developmental domains in performing math skills, which may have affected the demonstration of target behaviors for the participant with significant fine motor and language delays. [ABSTRACT FROM AUTHOR]

In the present study a comprehensive protocol to assess chewing in four children with Down syndrome is provided and described. One baseline and four assessment meals were conducted across four textures of foods to investigate the presence or absence of components of chewing (bite down, chew and tongue lateralization), as well as movements associated with the development of chewing. Results showed that at baseline all participants ate their typical diet (i.e., pureed food) but no chewing components or movements were observed. The findings of the assessment protocol indicated that it offers a prescriptive assessment of chewing and its components across different food textures. The results of the assessment provided useful information for clinicians by identifying a potential starting point for interventions to address chewing deficits. Furthermore, the findings add to the existing literature on the role of tongue lateralization and specific tongue movements in chewing. Implications of the findings for chewing interventions and future research are discussed. [ABSTRACT FROM AUTHOR]

Copyright of Revista de la Facultad de Medicina Humana is the property of Instituto de Investigaciones en Ciencias Biomedicas de la Universidad Ricardo Palma 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 authors examined if body mass index (BMI), weight, and height across age groups differ between adults with Down syndrome (DS) and adults with intellectual disability but without DS. They conducted secondary analyses of cross-sectional data from 45,803 individuals from the United States from 2009 to 2014 of the National Core Indicators Adult Consumer Survey across five age groups: 18–29, 30–39, 40–49, 50–59, and 60+ years. For both men and women with DS, BMI and weight increased between the 18- to 29- and the 30- to 39-year age groups and decreased thereafter. For both men and women with intellectual disability, BMI and weight increased between the 18- to 29- and the 30- to 39-year age groups, stayed about the same until the 50- to 59-year age group, and decreased thereafter. Height demonstrated a small but significant decrease with older age in all groups. These cross-sectional comparisons indicate that BMI and weight may start decreasing at a younger age in adults with DS than in adults with intellectual disability. [ABSTRACT FROM AUTHOR]

Why you should read this article: • To recognise that many people with learning disabilities have a fear of procedures involving needles • To learn about reasonable adjustments for people with learning disabilities undergoing a blood test or injection • To think about your role in supporting parents of children with learning disabilities undergoing a blood test Screening, testing and monitoring are crucial elements of the care of people with learning disabilities, who therefore often have to undergo blood tests. Having blood taken can induce anxiety and distress in people with learning disabilities, notably if they have a fear of needles. Preparing the person and identifying and addressing their needs is crucial to enable the person to give informed consent and ensure the procedure is conducted successfully and without causing distress to anyone involved. However, tailored support and reasonable adjustments are not always provided, as shown here by the story of Sam told by his mother. This article reflects on the challenges posed to people with learning disabilities and their families or carers by procedures involving needless and explores how these challenges can be addressed. [ABSTRACT FROM AUTHOR]

Studies have shown that healthcare professionals (HP) play a significant role in parents' experience when informed of the birth of a child with Down Syndrome (DS). Past studies have focused on faith dilemmas of religious mothers that were informed that their child was born with DS and on understanding how faith was a source of emotional support for them. Studies that focus on religious activist mothers are scarce. We utilized a qualitative methodology to explore the experiences of Jewish mothers who are religious and activists. Semistructured interviews and focus groups were conducted with 17 religious Jewish mothers of children with DS, who participated in an activist, self-support group. The data were analyzed using interpretative phenomenological analysis (IPA). Most mothers felt unsupported by the HP although a few mentioned being congratulated on the birth and empowered by a physician who focused on their child's potential to develop. The mothers appreciated when HPs considered their opinions and values. They shared the common goal of changing the existing pathological, statistics-based discourse concerning children with DS. The study reinforces the important role of HP and policymakers' in collaborating with parents and their support groups early in the diagnostic stage. [ABSTRACT FROM AUTHOR]

Purpose: The primary purpose of this study was to examine the effect of sentence length on speech rate and its characteristics, articulation rate, and pauses in children with neurodevelopmental disorders. Method: Nine children diagnosed with cerebral palsy (CP) and seven children diagnosed with Down syndrome (DS) repeated sentences varying in length from two to seven words. Children were between the ages of 8 and 17 years. Dependent variables included speech rate, articulation rate, and proportion of time spent pausing. Results: For children with CP, there was a significant effect of sentence length for speech rate and articulation rate but not for the proportion of time spent pausing. In general, the longest sentences were produced with a faster speech and articulation rate than the shortest sentences. For children with DS, there was a significant effect of sentence length for the proportion of time spent pausing but not for speech rate or articulation rate. In general, children with DS spent significantly more time pausing in the longest sentences, particularly seven-word sentences, than in any other sentence length. Conclusions: Primary findings include the following: (a) Articulation rate and pause time are differentially impacted by sentence length, and (b) children with CP and children with DS respond differently to increases in cognitive-linguistic load. [ABSTRACT FROM AUTHOR]

Prenatal screening has come a long way from the discovery of fetal ultrasound markers for Down syndrome followed by improved ultrasound skills where genetic syndromes and major congenital malformations can be diagnosed right in the first trimester itself. The outcome is a key factor for the couple to make informed decision on the future of the high risk pregnancy. Prenatal screening, diagnosis, management and subsequent prevention is now an established practice in fetal medicine. The first trimester screening (at 11-13+6 weeks) includes evaluating markers for common aneuploidies (trisomies) such as Down syndrome along with a detailed fetal anatomy review. This is followed by a genetic sonogram or anomaly scan at around 20 weeks. Any signs of "high risk" for trisomies or malformations prompt invasive testing for precision diagnosis, either a chorion villous sampling (CVS) or an amniocentesis (AC). The fetal sample is used for various genetic tests, such as chromosome microarray analysis (CMA), targeted clinical exome sequencing (CES), or whole exome sequencing (WES) depending upon the abnormality noted or the suspected genetic condition. Non Invasive prenatal screening (NIPS) is now available as a screening tool for Down syndrome (99%accuracy for Down syndrome) if the couple choose to defer invasive testing. Apart from aneuploidies, prenatal screening for non-structural disorders, such as Beta thalassemia (both parents carriers) or investigating any other genetic disorder can also be offered. In addition, Carrier Screening can be considered especially by consanguineous couples who are known to be at increased risk for having an affected baby. The option for NIPS is now preferred by most parents undergoing pre-conception genetic counselling and confirmed to be carriers for an autosomal recessive genetic disease. The prenatal screening is the best choice for secondary prevention of genetic condition. The option for preimplantation genetic diagnosis (PGD) offers primary prevention by specific wild embryo selection and implantation in an in vitro fertilization cycle, following exclusion of affected embryo for aneuploidy (PGD-A), structural chromosome aberration (PGD-A), and a monogenic Mendelian genetic disease (PGD-M). The prenatal screening or diagnosis by the Fetal Medicine Team remains the mainstay for identification and management of pregnancies at high risk of genetic disorders. [ABSTRACT FROM AUTHOR]

Background: Understanding the timing of developmental milestones in typical and clinical populations facilitates intervention planning and the early detection of risk for co‐occurring conditions. Normative timing of developmental milestone achievement has been established for typically developing children. However, there is little information regarding the timing of cognitive and communication skill acquisition in young children with Down syndrome (DS). The objectives of this study are to (1) provide foundational information regarding the timing of cognitive and communication skill acquisition in infants with DS and (2) facilitate the early identification of infants with risk for co‐occurring conditions. Method: Seventy‐four infants with DS (age range: 4–18 months) completed the Bayley Scales of Infant Development‐III (Bayley 2006). Individual items from the cognitive and communication scales were selected for analysis. Parents provided information regarding their infant's developmental and family history. Results: The percentage of infants who attained each skill was calculated within 2‐month age bands. For infants who did not show skill acquisition within each age band, the rates of prematurity, heart defects, corrective heart surgery and significant illness were calculated as well. Conclusions: This study provides foundational information that can contribute to the formulation of a developmental schedule for cognitive and language milestone acquisition in infants with DS. [ABSTRACT FROM AUTHOR]

Communicating the diagnosis of Down Syndrome to a couple of parents is never easy, whether before or after birth. As doctors, we must certainly rely on our own relational skills, but it is also necessary to be confident in some general indications, which are often overlooked in the strict hospital routine. This article is intended as a summary of the main articles published on this subject in the international literature, collecting and summarising the most important indications that have emerged in years of medical practice all over the world as well as in our personal experience. The diffusion of these guidelines is essential to help the doctor in this difficult task, on which there is often little training, and above all to guarantee to the parents the least traumatic communication possible. [ABSTRACT FROM AUTHOR]

Copyright of Revista de Ciencias Médicas de Pinar del Río is the property of Editorial Ciencias Medicas 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.)

Background: Children with Down syndrome (DS) lag behind typical children in the acquisition of developmental milestones, which could differ depending on body proportionality. We aimed to determine the difference in the acquisition of developmental milestones in children with DS with a disproportionate cephalization index (CI) compared to a proportionate CI. We created a motor development model that predicted milestone acquisition times. Methods: In this 20-year prospective cohort study, 47 children with DS aged 3 months to 5 years, followed up to 2020, were grouped according to the ratio of head circumference to birth weight (HC/BW) or CI into proportionate (CI < 1.1) and disproportionate (CI ≥ 1.1). We used a modified Munich Functional Developmental Diagnostic Scale that was assessed for reliability and content validity (Levene's test and discriminant analysis) to determine 28 motor milestones. Linear regression was used to predict time to milestone acquisition, controlling for sex, maternal age, and birth weight. Results: Compared to proportionate CI, children with disproportionate CI were delayed in the milestone acquisition of a prone position by 2.81 months, standing before walking by 1.29 months, and a supine position by 1.61 months. Both groups required more time to reach standing after the acquisition of independent walking, but children with disproportionate CI reached those milestones later (4.50 vs. 4.09 months, p < 0.001). Conclusion: Children with disproportionate CI acquired milestones in a predictable order but slower than those with a proportionate CI. Our findings support the need to classify the degree of motor developmental delay in children with DS into unique functional groups rather than rely on clinicians' arbitrary descriptions of the timing of developmental delays in children with DS. [ABSTRACT FROM AUTHOR]

Copyright of Revista Inspirar Movimento & Saude is the property of Faculdade Inspirar 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 Journal of Pediatric Emergency & Intensive Care Medicine / Çocuk Acil ve Voğun Bakım Dergisi is the property of Galenos Yayinevi Tic. LTD. STI 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.)

Given the importance of adaptive behaviour (AB) for the identification of intellectual disability and the design of intervention plans for people with Down syndrome (DS), this cross-sectional study explored AB in infants with DS, compared to infants with typical development (TD). Method: we evaluated 60 infants (10–36 months) with ABAS-II (32 with DS, 28 with TD). Using the developmental trajectories method for data analysis, we compared AB between the two groups. We found significant differences between groups in most of the skills assessed, in favour of infants with TD. Three different patterns of trajectories were found for the AB and the relation between the groups: (1) no differences (Leisure and Self-Care Skills); (2) differences at the beginning of the trajectory and then a similar slope (Home Living, Self-Direction, Social and Motor Skills); and (3) a similar starting-point with differences in the trajectories (Communication, Community Use, Pre-Academic, and Health and Safety). This empirical cross-sectional study contributes to the understanding of the development of AB in children with DS, showing both weak areas and skills that continue improving over time in these early years. Contributions and limitations of the study are discussed. [ABSTRACT FROM AUTHOR]

This article is an ethical evaluation of two familiar views in the debate on foetal diagnosis; one being the mainstream view in medical texts emphasizing early detection of foetuses with Down´s syndrome so they may be aborted, and the other coming from Down´s syndrome activists claiming that such screening is never acceptable. The core question asked is: What ethical weaknesses in modern medical practice does this discussion reveal? I argue that the marketization of noninvasive prenatal testing (NIPT) and the mainstream discussion in the health sector on its application shows two trends undermining the traditional ethos of medicine. Firstly, that doctors are, in their work, concentrating on diseases as isolated entities, whereas the patient and her life remains in the shadow. Secondly, the emphasis has been on the scientific foundation of medicine where the clinical evaluation of these scientific facts has not received due attention. This article is about how we can evaluate ethically two different views on tests done on foetuses. It describes how some medical texts talk about tests done on foetuses to see if they have Down's syndrome; and secondly, how some people with Down´s syndrome and their families talk about such tests. The medical view is criticized for failing to understand the importance of the lives of people with Down´s syndrome and for not taking their views of the value of their lives seriously. The medical texts focus on diseases instead of patients. Thus they tend to ignore the life and value of the person having the disease. The medical view is mainly about science and facts. It ignores the question of whether and how these facts matter for the patient. People with Down´s syndrome and their families have criticized this medical approach. Their criticism is very important. [ABSTRACT FROM AUTHOR]

The need for speech and language therapy (SLT) for people with Down syndrome (DS) is well documented. However, there is a significant disparity between research and practice. This study addresses two of the three pillars of evidence‐based practice by 1) quantitatively profiling some key features of the 2019 public SLT service in Ireland, and referencing this against current best evidence; 2) asking parents, and adults with DS what supports they need in relation to an adequate SLT service. Adults with DS (n = 33) and parents of those with DS (n = 557), completed an anonymous survey online. The function of the survey was to collect information on: SLT service provision; levels of satisfaction with services; and SLT supports required. Based on parent responses, only 44% of participants (n = 253) were offered public SLT services in 2019. The mode waiting time was 1–2 years and the average number of sessions across the age groups was 5 per year. There was a strong association between age and number of sessions. Individual therapy was the most common model of service. A total of 40% of parents reported a 0 level of satisfaction. Seven key themes emerged from the qualitative support data. None of the participating adults received public SLT services in 2019. Our aspiration for evidence‐based SLT practice is far from being realized. The average number of sessions reported, does not in any way approximate the intervention intensity specified in evidence‐based interventions. Our limited service, at all ages, has detrimental implications for people with DS and our negligible adult service is in breach of human rights. Targeted, strategic investment is needed to allow practice to be aligned with best evidence; to support and treat people with DS effectively; to allow them to reach their maximum potential; and to exercise their right to communicate. [ABSTRACT FROM AUTHOR]

Copyright of Balikesir Health Sciences Journal / Balıkesir Sağlık Bilimleri Dergisi is the property of Balikesir Health Sciences Journal (BAUN Health Sci J) 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 article focuses on prenatal diagnosis of trisomy 21. It mentions the caregiver must give clear and objective information to pregnant women and couples, that can serve as a support for dialogue between the carer and the pregnant woman, between the carer and the couple and allow future parents to discuss and decide whether to commit or not in the screening process.

Background The perceptual similarity between two objects, specifically similarity in the shape of the referents, is a crucial element for relating words in earlier stages of development. The role of this perceptual similarity has not been systematically explored in children with Down syndrome (DS). Method: The aim was to explore the role of perceptual similarity in relationships between words in children with DS. Two groups, children with typical development (TD) and children with DS, matched by gender and mental age, participated in a priming task with a preferential looking paradigm. The task presented validated perceptually-related word pairs (prime-target) and perceptually unrelated pairs. In the priming task both groups were asked to look at a target image (e.g. ball) that was perceptually related (e.g. cookie) or unrelated (e.g. skirt) to the prime. Results: Participants from both groups looked more at targets without perceptual similarity than at those with similarity to the prime, suggesting an inhibition effect. Conclusions: This finding suggests the role of visual information, particularly the shape of the referents, in the construction of the lexical system. [ABSTRACT FROM AUTHOR]

Luc's abscess is rarely seen complications of otitis media with case reports from the literature despite being known as a benign course. A few cases have been reported combined with chronic suppurative otitis media, unlike other subperiosteal abscesses due to otitis media. Although Luc's abscess is remarkable with its distinctive clinical features, early diagnosis may require high suspicion and sufficient clinical experience of clinicians. In case of clinical doubt, the clinician should not hesitate to request further research. A Highresolution computed tomography scan is necessary for determining the extent of disease and treatment planning as soon as possible. Here we present the case of a twelve-year-old boy with Down syndrome diagnosed with Luc's abscess involving the mastoid bone and developed preseptal cellulitis in both eyes progressed to life-threatening processes. We discussed the clinic features and decision of treatment options of the patients in the light of the literature. [ABSTRACT FROM AUTHOR]

The article focuses on study of financial analysis is carried out to assess costs and benefits of providing cell-free DNA screening in Finland, using different strategies. Topics discussed include considering the place of cell-free DNA screening it is important to make explicit the additional and marginal costs of different screening strategies and the associated benefits; and most assumptions the balance is favorable for Contingent screening.

After some studies on students with Down syndrome (DS) who learned algebra and problem solving and few single case studies on analytic geometry, here the experience on analytic geometry was extended to 6 adolescents with DS, who attended mainstream schools. They were taught individually in the afternoon, one day per week, for 9 months by the same teacher, who also graded their performances during the course and in a final test. No preselection of the participants was done, except for the chronological age. The programme was: fractions, positive/negative numbers, linear equations, the Cartesian plane, the equation of a straight line, parallel and intersecting straight lines, the belonging of a point to a straight line, and the distance between two points. The use of a calculator and a ruler was allowed all times. As a result, almost all the students learned to work autonomously on each topic of the programme. All the students either improved or maintained their performances from the course to the final test. One student with a severe impairment in speech, reading, and writing was able to learn and to enjoy the programme. This study confirms the previous results and should be extended further. [ABSTRACT FROM AUTHOR]

Purpose: The purpose of this study was to clarify the impact of adults with Down syndrome (DS) on COVID-19 and the status of efforts for new normal in Japan through a Web survey. Design/methodology/approach: Parents' associations' representatives sent requests to members aged 18 years or older inviting them to participate in an Internet survey. A total of 141 people cooperated, and 126 people were included in the analysis. Findings: As a result of examining the number of times the state of emergency was declared and its impact on COVID-19, the degree of anxiety felt when hearing information about new coronavirus infections on television or the internet was significantly higher in subjects for whom the state of emergency was declared four times than in subjects for whom the state of emergency was declared two and three times in the region. This was significantly higher than that of the subjects in the areas where the state of emergency had been declared four times and significantly lower than that of the subjects in the areas where the state of emergency had been declared one time for "smiling". The results suggest that the effects on physical and mental health, although limited, are influenced by the number of times the state of emergency was declared. From the analysis of the free text, it was inferred that some, but not all, of the subjects with DS, had their physical and mental state affected by COVID-19 to the extent that they required medical care. Originality/value: This study clarified the psychosomatic effects of COVID-19 in people with DS in adulthood, which has not yet been fully clarified in the world. To the best of the authors' knowledge, this is the first study in Japan to clarify the physical and mental effects of COVID-19 on people with DS and the status of new normal initiatives. [ABSTRACT FROM AUTHOR]

Down Syndrome (Ds) is the most common chromosomal cause of intellectual disability that results from triplication of chromosome 21 genes. Individuals with Ds demonstrate cognitive deficits in addition to comorbidities including cardiac defects, pulmonary arterial hypertension (PAH), low blood pressure (BP), and differences in autonomic regulation. Many individuals with Ds are born with heart malformations and some can be surgically corrected. Lower BP at rest and in response to exercise and other stressors are a prevalent feature in Ds. These reduced cardiovascular responses may be due to underlying autonomic dysfunction and have been implicated in lower exercise/work capacity in Ds, which is an important correlate of morbidity, mortality and quality of life. Exercise therapy can be beneficial to normalize autonomic function and may help prevent the development of co-morbidities in Ds. We will review cardiovascular physiology and pathophysiology in individuals with Ds, along with exercise therapy and special considerations for these individuals. [ABSTRACT FROM AUTHOR]

Aim: This study aimed to assess the utility of ultrasound screening for pregnancies with positive noninvasive prenatal testing results for trisomy 21, trisomy 18, and trisomy 13. Methods: We performed a retrospective analysis of positive noninvasive prenatal testing results and first‐trimester ultrasound screening at our department between 2013 and 2019. Invasive genetic testing was performed if the patient had positive noninvasive prenatal testing results. Fetal ultrasound and cytogenetic data were collected. Noninvasive prenatal testing was performed in the women for advanced maternal age, nuchal translucency thickness, or history of abnormality in the previous child or relative. Results: Forty‐one pregnant women had positive noninvasive prenatal testing results for trisomy 21, trisomy 18, and trisomy 13. Twenty‐three women had positive results for trisomy 21, 13 had positive results for trisomy 18, and 5 had positive results for trisomy 13 at 11 to 14 weeks of gestation. The positive predictive value of noninvasive prenatal testing was 100% for trisomy 21, 84.6% for trisomy 18, and 100% for trisomy 13. The positive predictive value of positive noninvasive prenatal testing results and fetal morphological abnormalities was 100% for trisomy 21, trisomy 18, and trisomy 13. Conclusion: Combining an ultrasound examination with noninvasive prenatal testing resulted in a higher positive predictive value for trisomy 18. Normal ultrasound examination results can help alleviate stress caused by false‐positive noninvasive prenatal testing results. In contrast, the positive predictive value and negative predictive value for trisomy 21 were not altered by adding an ultrasound examination to noninvasive prenatal testing. [ABSTRACT FROM AUTHOR]

Background: The background of this study is to evaluate the published literature on the use of antioxidants in improving developmental outcomes in children with DS. Methods: The systematic review included interventional studies (randomized controlled trials [RCTs] and quasi-RCTs [q-RCTs]) of children aged 0 to 18 years diagnosed with DS who received antioxidants to improve developmental outcomes. Studies were excluded if they were interventional studies with non-random allocation or lack of control group or non-interventional studies including observational studies, systematic and narrative review articles, editorials and commentaries. Studies were also excluded if data from participants with DS were included as part of a larger group of participants (e.g., children with intellectual disability) and the data could not be separated for subgroup analysis, or if outcomes did not assess developmental domains (e.g., reported biochemical markers only). The review included children with other conditions associated with developmental disability, only when data for children with DS were separately reported. Results: Eleven RCTs and q-RCTs fulfilled the eligibility criteria with 683 participants with Down syndrome ranging in age from newborns to 17 years. Nine studies did not show any statistically significant clinical benefit of using antioxidants. Three studies were included in a meta-analysis comparing changes in the effect sizes (post and pre-intervention) in Global Developmental Quotient (GDQ) between the intervention and control groups. Conclusion: This review concludes that it is likely that the results are valid and suggest that the use of Antioxidant has no improvement in GDQ for children with DS. It is also unclear if any benefit exists for other developmental domains. [ABSTRACT FROM AUTHOR]

Background: Previous research has explored executive functions (EFs) and adaptive behaviour in children and adolescents with Down syndrome (DS), but there is a paucity of research on the relationship between the two in this population. This study aims to shed light on the profile of EFs and adaptive behaviour in DS, exploring the differences by age and investigating the relationship between these two domains. Method: Parents/caregivers of 100 individuals with DS from 3 to 16 years old participated in the study. The sample was divided into preschoolers (3–6.11 years old) and school‐age children (7–16 years old). Parents/caregivers completed either the Preschool Version of the Behaviour Rating Inventory of Executive Function (for children 2–6.11 years old) or the Second Edition of the same Inventory (for individuals 7 + years old). Adaptive behaviour was assessed with the Vineland Adaptive Behaviour Scale – Interview, Second Edition. Results: Findings suggest that individuals with DS have overall difficulties, but also patterns of strength and weakness in their EFs and adaptive behaviour. The preschool‐age and school‐age children's EF profiles differed slightly. While both age groups showed Emotional Control as a relative strength and Working Memory as a weakness, the school‐age group revealed further weaknesses in Shift and Plan/Organise. As concerns adaptive behaviour, the profiles were similar in the two age groups, with Socialisation as a strength, and Communication and Daily Living Skills as weaknesses, but with a tendency for preschoolers to obtain intermediate scores for the latter. When the relationship between EFs and adaptive behaviour was explored, Working Memory predicted Communication in the younger group, while in the older group the predictors varied, depending on the adaptive domains: Working Memory was a predictor of Communication, Inhibit of Daily Living Skills, and Inhibit and Shift of Socialisation. Conclusion: As well as elucidating the EF profiles and adaptive behaviour in individuals with DS by age, this study points to the role of EFs in adaptive functioning, providing important information for targeted interventions. [ABSTRACT FROM AUTHOR]

The present study was performed to examine the utility of a new first trimester marker called the "brain angle" (BA) in screening for trisomy 21. We postulate that differences in the midbrain anatomy between euploid fetuses and those that are affected by trisomy 21 are reflected in changes in BA measurements. In fetuses at 11+0–13+6 weeks of gestations, which were at high risk for trisomy 21, the angle was measured between the line crossing the thalamus and mesencephalon cranial border tangentially and the line crossing the brainstem lower limit. This angle was compared between fetuses with trisomy 21 (based on karyotyping) and those with a normal karyotype. Trisomy 21 was detected in 45 (8%) of 560 fetuses. Receiver operating characteristic analysis showed that, at BA≥94°, the sensitivity and specificity for determining trisomy 21 were 97.8% (95% CI=88.2–99.9%) and 100% (95% CI=99.2–100%), respectively. Fetal BA appears to be a promising new first trimester marker in screening for trisomy 21. [ABSTRACT FROM AUTHOR]

Herein we discuss the clinical course and subsequent autopsy of a female infant with trisomy 21 with balanced Rastelli Type "C" complete atrioventricular septal defect (AVSD), tetralogy of Fallot and right aortic arch with mirror image branching pattern who underwent a palliative right modified Blalock-Taussig-Thomas shunt (mBTTS) for hypoxemia from progressive right ventricular outflow tract obstruction. The baby was found to have multiple concomitant pathologic findings not typically seen with this constellation of cardiac anatomy. Autopsy revealed significant abdominal adhesions with near-complete stenosis of the transverse colon. In addition, the infant was found to have significantly elongated villi within the small and large bowel and a relatively large collagenous polyp in the small bowel. The decedent also had an abnormal tracheal bronchus, characterized by an additional superior right-sided bronchus, which is an extremely rare abnormality. Her clinical course was complicated by severe pulmonary hypertensive arteriolar changes out of proportion to what would be typical for her age, trisomy 21 status, and degree of left to right intracardiac shunting. Furthermore, she had refractory anasarca and recurrent chylous pleural effusions without gross lymphatic abnormalities that may have been secondary to systemic capillary leak syndrome (SCLS) versus severe pulmonary hypertension. Due to the aforementioned findings, the family elected for comfort care and the baby expired shortly after extubation. Overall, the infant had multiple, rare coexisting congenital abnormalities that likely represents an extreme phenotype of trisomy 21 that has not been described in the literature to date. [ABSTRACT FROM AUTHOR]

Objective: To review the uptake rate of non-invasive prenatal testing (NIPT) in the first 12 months of implementation in the obstetric unit of United Christian Hospital. Methods: Between December 2019 and November 2020, women with a fetal Down syndrome (DS) risk ratio of ≥1:250 after first-trimester DS screening (using maternal serum markers and nuchal translucency thickness on ultrasonography) or second-trimester DS screening (using maternal serum markers) were offered free-of-charge second-tier NIPT or invasive testing. Results of NIPT and invasive testing and pregnancy outcome of these women were reviewed. Characteristics of those opting for NIPT versus invasive testing were compared. Univariate and logistic regression analyses were used to determine significant factors associated with opting for NIPT. Results: During the study period, 2182 women underwent first-trimester DS screening (n=2086) or second-trimester DS screening (n=96). 117 women were screen positive, with a DS risk ratio of <1:250. The screen-positive rate was 5.36% overall and 5.23% for first trimester and 8.33% for second trimester. Of the 117 women, 26 had NIPT in private settings before or after being screened positive, 89 opted for NIPT (n=65) or invasive testing (n=24) in our hospital, and two did not have further testing owing to spontaneous miscarriage (n=1) or termination of pregnancy (n=1). Of 91 women with NIPT, 84 (92.3%) were at low risk for common aneuploidies, four were at high risk for T21 (n=2) or T18 (n=2), and three had abnormalities other than common aneuploidies. Six of the high-risk women underwent invasive testing and abnormalities were confirmed. Of the 24 women who opted for invasive testing, 14 had normal results and 10 had abnormal results. In logistic regression analysis, predictors for opting for invasive testing (rather than NIPT) were presence of abnormalities on ultrasonography (odds ratio (OR)=13.9, p=0.01), a nuchal translucency thickness of ≥3 mm (OR=7.62, p=0.01), and education level below tertiary level (OR=7.14, p=0.02). Conclusion: In the first 12 months of implementation in United Christian Hospital, the uptake rate of NIPT as a second-tier test after positive DS screening was 77.8%, which is higher than that reported in previous studies when NIPT was a self-financed test. [ABSTRACT FROM AUTHOR]

Objective: To compile current usage of serum-based prenatal screening for Down syndrome in the United States and compare it with results from a similar 2011/2012 survey. Setting: The College of American Pathologists maternal screening proficiency testing survey includes a supplemental question on the first of three yearly distributions. Methods: Information regarding tests offered and the monthly number of pregnancies tested for US-based laboratories were reviewed. Results were stratified by size of laboratory, tests offered, and pregnancies tested. Findings were compared to an earlier survey. Results: Fifty-six laboratories reported they will have screened 1,131,336 pregnancies in 2020. Of these, 36% are screened by stand-alone first trimester testing, 48% by stand-alone second trimester testing, and 16% using tests that integrate results from both trimesters. Eighty percent of all serum screens were provided by the five laboratories that performed the most screens (at least 50,000). These five performed similar proportions of first or second trimester screens (42.2% and 41.8%, respectively). Compared to eight years earlier, there are now 54% fewer laboratories. Pregnancies screened using the first trimester, second trimester, and integrated protocols were lower by 27%, 69%, and 72%, respectively. The serum screening activity in the US showed a 62% decrease from 2012 levels. During 2012–2020, the number of cell-free DNA tests increased from negligible to 1,492,332. Conclusions: Maternal serum screening for common aneuploidies has changed significantly in eight years with fewer laboratories, a shift toward larger laboratories and a 2.5-fold reduction in pregnancies tested, likely due to the introduction of cell-free DNA screening. [ABSTRACT FROM AUTHOR]

Objective: To investigate the factors associated with cell-free DNA test failure, and the optimal subsequent management of these pregnancies. Methods: This was a retrospective study of 27,363 singleton pregnancies undergoing cell-free DNA testing. Women with cell-free DNA test failure were divided into a high-risk group and a low-risk group according to their indications. The subsequent management and pregnancy outcomes of these women were followed up. Results: The rate of cell-free DNA test failure at the first sampling was 1.49%, and 78.4% of failures were due to a low fetal fraction. Of the 66 women who refused any subsequent management, an adverse pregnancy outcome was seen in 5 cases, all belonging to the high-risk group. Of the 13 low-risk women who chose second-trimester maternal serum screening, all obtained a low-risk maternal serum screening result and an unaffected pregnancy outcome. A redraw was chosen by 171 women, which yielded a result in 75.4% and their pregnancy outcomes were unaffected; 42 women had an uninformative result again and received an amniocentesis. As 158 women had an amniocentesis after the first sampling, this procedure was offered in 200 cases altogether. Abnormal genetic testing results were shown in six (3%, 6/200) cases, all in the high-risk group. Conclusions: High-risk pregnant women with cell-free DNA test failure are at increased risk of adverse pregnancy outcomes. A second sampling for cell-free DNA test or maternal serum screening might be suggested to low-risk women. Invasive prenatal diagnosis should be offered to the high-risk patients, especially those with a second cell-free DNA test failure. [ABSTRACT FROM AUTHOR]

Soft markers were originally introduced to prenatal ultrasonography to improve the detection of trisomy 21 over that achievable with age-based and serum screening strategies. As prenatal genetic screening strategies have greatly evolved in the last 2 decades, the relative importance of soft markers has shifted. The purpose of this document is to discuss the recommended evaluation and management of isolated soft markers in the context of current maternal serum screening and cell-free DNA screening options. In this document, "isolated" is used to describe a soft marker that has been identified in the absence of any fetal structural anomaly, growth restriction, or additional soft marker following a detailed obstetrical ultrasound examination. In this document, "serum screening methods" refers to all maternal screening strategies, including first-trimester screen, integrated screen, sequential screen, contingent screen, or quad screen. The Society for Maternal-Fetal Medicine recommends the following approach to the evaluation and management of isolated soft markers: (1) we do not recommend diagnostic testing for aneuploidy solely for the evaluation of an isolated soft marker following a negative serum or cell-free DNA screening result (GRADE 1B); (2) for pregnant people with no previous aneuploidy screening and isolated echogenic intracardiac focus, echogenic bowel, urinary tract dilation, or shortened humerus, femur, or both, we recommend counseling to estimate the probability of trisomy 21 and a discussion of options for noninvasive aneuploidy screening with cell-free DNA or quad screen if cell-free DNA is unavailable or cost-prohibitive (GRADE 1B); (3) for pregnant people with no previous aneuploidy screening and isolated thickened nuchal fold or isolated absent or hypoplastic nasal bone, we recommend counseling to estimate the probability of trisomy 21 and a discussion of options for noninvasive aneuploidy screening through cell-free DNA or quad screen if cell-free DNA is unavailable or cost-prohibitive or diagnostic testing via amniocentesis, depending on clinical circumstances and patient preference (GRADE 1B); (4) for pregnant people with no previous aneuploidy screening and isolated choroid plexus cysts, we recommend counseling to estimate the probability of trisomy 18 and a discussion of options for noninvasive aneuploidy screening with cell-free DNA or quad screen if cell-free DNA is unavailable or cost-prohibitive (GRADE 1C); (5) for pregnant people with negative serum or cell-free DNA screening results and an isolated echogenic intracardiac focus, we recommend no further evaluation as this finding is a normal variant of no clinical importance with no indication for fetal echocardiography, follow-up ultrasound imaging, or postnatal evaluation (GRADE 1B); (6) for pregnant people with negative serum or cell-free DNA screening results and isolated fetal echogenic bowel, urinary tract dilation, or shortened humerus, femur, or both, we recommend no further aneuploidy evaluation (GRADE 1B); (7) for pregnant people with negative serum screening results and isolated thickened nuchal fold or absent or hypoplastic nasal bone, we recommend counseling to estimate the probability of trisomy 21 and discussion of options for no further aneuploidy evaluation, noninvasive aneuploidy screening through cell-free DNA, or diagnostic testing via amniocentesis, depending on clinical circumstances and patient preference (GRADE 1B); (8) for pregnant people with negative cell-free DNA screening results and isolated thickened nuchal fold or absent or hypoplastic nasal bone, we recommend no further aneuploidy evaluation (GRADE 1B); (9) for pregnant people with negative serum or cell-free DNA screening results and isolated choroid plexus cysts, we recommend no further aneuploidy evaluation, as this finding is a normal variant of no clinical importance with no indication for follow-up ultrasound imaging or postnatal evaluation (GRADE 1C); (10) for fetuses with isolated echogenic bowel, we recommend an evaluation for cystic fibrosis and fetal cytomegalovirus infection and a third-trimester ultrasound examination for reassessment and evaluation of growth (GRADE 1C); (11) for fetuses with an isolated single umbilical artery, we recommend no additional evaluation for aneuploidy, regardless of whether results of previous aneuploidy screening were low risk or testing was declined. We recommend a third-trimester ultrasound examination to evaluate growth and consideration of weekly antenatal fetal surveillance beginning at 36 0/7 weeks of gestation (GRADE 1C); (12) for fetuses with isolated urinary tract dilation A1, we recommend an ultrasound examination at ≥32 weeks of gestation to determine if postnatal pediatric urology or nephrology follow-up is needed. For fetuses with urinary tract dilation A2-3, we recommend an individualized follow-up ultrasound assessment with planned postnatal follow-up (GRADE 1C); (13) for fetuses with isolated shortened humerus, femur, or both, we recommend a third-trimester ultrasound examination for reassessment and evaluation of growth (GRADE 1C). [ABSTRACT FROM AUTHOR]

Aim: We aimed to evaluate the sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) of noninvasive prenatal testing (NIPT) in high‐risk pregnant women. Methods: Pregnant women who underwent GeneTech NIPT, the most commonly used NIPT in Japan, between January 2015 and March 2019, at Japan NIPT Consortium medical sites were recruited for this study. The exclusion criteria were as follows: pregnant women with missing survey items, multiple pregnancy/vanishing twins, chromosomal abnormalities in the fetus other than the NIPT target disease, and nonreportable NIPT results. Sensitivity and specificity were calculated from the obtained data, and maternal age‐specific PPV and NPV were estimated. Results: Of the 45 504 cases, 44 263 cases fulfilling the study criteria were included. The mean maternal age and gestational weeks at the time of procedure were 38.5 years and 13.1 weeks, respectively. Sensitivities were 99.78% (95% confidence interval [95% CI]: 98.78–99.96), 99.12% (95% CI: 96.83–99.76), and 100% (95% CI: 88.30–100) for trisomies 21, 18, and 13, respectively. Specificities were more than 99.9% for trisomies 21, 18, and 13, respectively. Maternal age‐specific PPVs were more than 93%, 77%, and 43% at the age of 35 years for trisomies 21, 18, and 13, respectively. Conclusion: The GeneTech NIPT data showed high sensitivity and specificity in the detection of fetal trisomies 21, 18, and 13 in high‐risk pregnant women, and maternal age‐specific PPVs were obtained. These results could provide more accurate and improved information regarding NIPT for genetic counseling in Japan. [ABSTRACT FROM AUTHOR]

The most well-known goal of non-invasive prenatal testing (NIPT) is still to determine whether or not a fetus has trisomy 21. Since women often terminate the pregnancy upon a positive result, there is concern that the use of NIPT contributes to discrimination against persons with disabilities. If this concern is justified, it could have an impact on the wider social acceptability of existing testing practices and their potential further expansion. This paper demonstrates four different versions of the discrimination worry, indicates how international policy papers have reacted to them, and identifies the ethically most relevant feature of the concern. [ABSTRACT FROM AUTHOR]

By implementation of non-invasive prenatal testing (NIPT) for the diagnosis of Down syndrome (DS) in maternity care, an ethical debate is newly inflamed how to deal with this information. Fears of the consequences of an increased use of NIPT are justified with the same arguments when amniocentesis and preimplantation genetic diagnosis (PGD) were introduced decades ago. It can be expected that the prevalence of people with DS would significantly increase in Western societies as a result of the increasing age of pregnant women and the improved medical care for people with DS. The net effect as to whether an increasing uptake of NIPT will result in more abortions of fetuses with trisomy 21 cannot be reliably estimated. This holds true since more and more couples will use results of NIPT for information only, but will not opt for termination of pregnancy. Although parents love their children with DS, in a society where reproductive autonomy is seen as an achievement, access to NIPT cannot be limited. On this background, comprehensive and qualified pretest counseling is vital, also to avoid possible stigmatization of people with DS and as the resulting consequence to avoid feared deterioration in their living conditions, for which, however, there is no evidence to date. The personal view of a mother of a child with DS illustrates the complexity in dealing with NIPT, which does not allow simple answers and must be understood as a challenge for society as a whole. [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]