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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]

Catatonia is a neuropsychiatric syndrome that is an increasingly recognized cause of acute behavioural changes in children and adolescents with neurodevelopmental disorders (NDD). Literature suggests that catatonia can present differently in this population and can be missed due to diagnostic overshadowing. Catatonia is a treatable condition, and management strategies in children with NDD include benzodiazepines and electroconvulsive therapy (ECT). Untreated, it can cause significant morbidity including severe medical complications, and therefore timely recognition and management of catatonia in children and adolescents with NDD is essential. In this case series, we present three cases of children ages 7, 14, and 10, with diagnoses of autism spectrum disorder, Down syndrome, and Prader-Willi syndrome, respectively. All were admitted to a pediatric inpatient unit for acute behavioural regression. Each had symptoms consistent with catatonia, resulting in trials of benzodiazepine therapy with inadequate response, and were then treated with bilateral ECT. In all cases, marked improvement was noted after ECT, with no apparent adverse effects. The cases are used to highlight the nuances of diagnosis and management of catatonia in children and adolescents with NDD. This includes insights on how presentations of catatonia may differ in this population, challenges with the use of available diagnostic tools, and how these patients may respond differently to recommended treatments such as benzodiazepines. The case series aims to increase clinicians' awareness of pediatric catatonia when children and adolescents with NDD present with acute behavioural changes, and to encourage consideration of the full spectrum of treatments, including bilateral ECT. [ABSTRACT FROM AUTHOR]

Background: People with Down's syndrome (DS) are at high risk of developing Alzheimer dementia (DS‐AD) due to a triplication of the amyloid precursor protein gene. While several tools to diagnose and screen for DS‐AD, such as the dementia screening questionnaire for individuals with intellectual disabilities (DSQIID), are available in English, validated German versions of such instruments are scarce. Methods: A German version of the DSQIID questionnaire (DSQIID‐G) was completed by caregivers before attending our specialist outpatient department for DS‐AD. All participants were assessed blind to DSQIID‐G scoring using clinical and neuropsychological examinations, including the Cambridge Examination for Mental Disorders of Older People with Down's Syndrome and Others with Intellectual Disabilities (CAMDEX‐DS). ICD‐10 and amyloid/tau/neurodegeneration (A/T/N) criteria were applied to detect and categorise cognitive decline. Results: Of 86 participants, 43 (50%) showed evidence of cognitive decline. A definite diagnosis of DS‐AD was reached in 17 (19.8%) and mild cognitive impairment in seven (8.3%) participants. Secondary causes of cognitive decline were determined among 13 (15.1%) participants, and in six (7%) cases, the diagnosis remained unclassifiable due to co‐morbidities. Compared with cognitively stable individuals, participants with cognitive decline (n = 43) displayed higher DSQIID‐G total scores [median (range): 3 (0–21) vs. 19 (0–48), P < 0.001]. A total score of >7 provided a sensitivity of 0.94 against a specificity of 0.76, to discriminate DS‐AD and participants without cognitive decline according to ROC analysis. The convergent validity against the CAMDEX‐DS interview score was good (r = 0.74), and split‐half reliability (r = 0.96), internal consistency (Cronbach's α r = 0.96), test–retest reliability (r = 0.88) (n = 25) and interrater reliability (r = 0.81) (n = 31) were excellent. Conclusions: The DSQIID‐G showed excellent psychometric properties, including concurrent and internal validity and reliability. The cut‐off value for screening was lower than in the original English validation study. For a screening instrument like DSQIID‐G, a lower cut‐off is preferable to increase case detection. [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]

Objective: We aimed to develop an algorithm that accurately identifies children with Down syndrome (DS) using administrative data. Methods: We identified a cohort of children born between 2000 and 2017, enrolled in the Tennessee Medicaid Program (TennCare), who either had DS coded on their birth certificate or had a diagnosis listed using an International Classification of Diseases (ICD) code (suspected DS), and who received care at Vanderbilt University Medical Center, a comprehensive academic medical center, in the United States. Children with suspected DS were defined as having DS if they had (a) karyotype-confirmed DS indicated on their birth certificate; (b) karyotype-pending DS indicated on their birth certificate (or just DS if test type was not specified) and at least two healthcare encounters for DS during the first 6 years of life; or (c) at least three healthcare encounters for DS, with the first and last encounter separated by at least 30 days, during the first six years of life. The positive predictive value (PPV) of the algorithm and 95% confidence interval (CI) were reported. Results: Of the 411 children with suspected DS, 354 (86.1%) were defined as having DS by the algorithm. According to medical chart review, the algorithm correctly identified 347 children with DS (PPV = 98%, 95%CI: 96.0–99.0%). Of the 57 children the algorithm defined as not having DS, 50 (97.7%, 95%CI: 76.8–93.9%) were confirmed as not having DS by medical chart review. Conclusions: An algorithm that accurately identifies individuals with DS using birth certificate data and/or ICD codes provides a valuable tool to study DS using administrative data. [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]

Obstructive sleep apnea (OSA) is common in children with Down syndrome (DS). Adenoidectomy and/or tonsillectomy are the usual first interventions employed to treat OSA in children with DS but sometimes do not achieve adequate resolution of clinical signs. Positive airway pressure treatment is often used next, but this treatment is poorly tolerated by this population. Persistent OSA can adversely affect a child's health and cognitive development. Hypoglossal nerve stimulation (HGNS), previously shown to be safe and effective in adults with OSA, has been used in children as young as 10 years old with DS and has achieved measurable neurocognitive benefits. The US Food and Drug Administration recently lowered the age for HGNS implantation to 13 years for children with DS. However, questions remain regarding treatment of refractory OSA in younger children. Here, we report the case of a 4-year-old boy with DS and treatment--refractory OSA who underwent successful HGNS implantation. The decision to proceed with HGNS implantation in such a young child involved discussions about anatomic feasibility and potential neurocognitive benefits. The device was implanted without complication and with minimal postoperative bulk. This case suggests a possible treatment option that can be discussed in the course of shared decision-making between clinicians and families of young children with DS and treatment--refractory OSA. [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]

Copyright of Revista Pediatría de Atención Primaria is the property of LUA Ediciones 3.0 S.L. 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.)

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]

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]

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]

Twin pregnancy presents unique considerations for aneuploidy screening. Pre-test counseling regarding benefits, alternatives, and options for aneuploidy screening should be provided to all patients carrying twin pregnancy. This article aims to review the options for aneuploidy screening in twin pregnancy including the potential benefits and limitations. [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]

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.)

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]

Through the clinical diagnosis it is possible to identify some kinetic-functional disorders, elaborate the physiotherapeutic goals and choose the most appropriate resources and techniques. The objective was to analyze the clinicalprofile of patients treated in the child neurology sector in a physiotherapy clinic. This is an observational, retrospective study with descriptive statistical analysis. Data collection was carried out through the medical records of patients seen over a period of 6 years (2013 to 2018). The sample was represented by 255 children, median age 25 months, with a predominance of boys (60%). The average age at which the mothers became pregnant (25.8±10.34years), and the level of education was equal to or greater than high school completion (60%). Among the most incident diagnoses, we obtained motor delay and down syndrome. As for the treatment time, the median was 8 months. Understanding the type of child assisted in the sector creates a way to promote better care, guiding professionals, teachers and students. [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 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]

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]

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]

This clinical report offers guidance for the pediatrician in caring for the child, adolescent and family in whom a diagnosis of Down syndrome has been confirmed by chromosome analysis or suspected by prenatal screening. Topics discussed include cooccurring medical conditions and cognitive impairment in children with Down syndrome, common physical findings such as hypotonia, epicanthal folds, and flat nasal bridge, and common medical conditions such as hearing loss, and obstructive sleep apnea.

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.

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 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]

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]

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]

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: We developed a decision aid (DA) to help pregnant women and their partners make informed decisions about prenatal screening for trisomy. We aimed to determine its usefulness for preparing for decision-making and its acceptability among end-users.Methods: In this mixed-methods pilot study, we recruited participants in three prenatal care settings in Quebec City. Eligible women were over 18 and more than 16 weeks pregnant or had given birth recently. We asked them about the usefulness of the DA using an interview grid based on the Technology Acceptance Model. We performed descriptive statistics and deductive analysis.Results: Thirty-nine dyads or individuals participated in the study. Mean usefulness score was 86.2 ± 13. Most participants found the amount of information in the DA just right (79.5%), balanced (89.7%), and very useful (61.5%). They were less satisfied with the presentation and the values worksheet and suggested different values clarification methods.Conclusion: Rigorous pilot tests of DAs with patients are an important stage in their development before the more formal assessments that precede scaling up the DA in clinical practice.Practice Implications: The next version of the DA will integrate the suggestions of end-users for better decision-making processes about prenatal screening for trisomy. [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]

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]