Down Syndrome Children Research Articles

Between advocacy and commodification on Instagram: A case study of sharenting a child with disabilities

AbstractThis study examines the advocacy for children with disabilities in the context of sharenting practices on social media. The focus is on a case study of a 5‐year‐old British girl with Down syndrome (DS) named AC, whose Instagram account is managed by her mother. The study involved analysing all the content shared on the account, including single images, carousels, and videos (n = 1195), Reels (n = 310), pinned highlights (n = 6), and content tagged by other accounts (n = 74). The Instagram narratives were inductively categorized into three groups: Normalizing DS, Coping with DS, and DS macro‐level advocacy. The sharenting portrayal of AC has contributed to the growth of a supportive community challenging social stereotypes while promoting a more inclusive society. However, the study raises concerns about privacy, commodification, and self‐representation of the child in the context of sharenting advocacy. The mother's efforts to blend advocacy with commodification may compromise AC's privacy in pursuit of public recognition of DS children and financial benefits. While the social media portrayal attempts to offer the child's perspective, this case may not accurately represent self‐advocacy.

Impaired neutrophil-mediated cell death drives Ewing's Sarcoma in the background of Down syndrome.

Ewing Sarcoma (EWS) has been reported in seven children with Down syndrome (DS). To date, a detailed assessment of this solid tumour in DS patients is yet to be made. Here, we characterise a chemo-resistant mediastinal EWS in a 2-year-old DS child, the youngest ever reported case, by exploiting sequencing approaches. The tumour showed a neuroectodermal development driven by the EWSR1-FLI1 fusion. The inherited myeloperoxidase deficiency of the patient caused failure of neutrophil-mediated cell death and promoted genomic instability. In this context, the tumour underwent genome-wide near haploidisation resulting in a massive overexpression of pro-inflammatory cytokines. Recruitment of defective neutrophils fostered rapid evolution of this EWS.

Three-dimensional assessment of the nasopharyngeal airway in Down syndrome during the mixed dentition period: a case-control study.

In this retrospective case-control study, we aimed to evaluate the nasopharyngeal airway volume of children with Down syndrome (DS) and compare the results with those of control participants well matched for sex and age. Fifteen children with DS (mean age = 9.43 ± 0.38 years; 8 boys, 7 girls) and 15 control participants (mean age = 9.51 ± 0.40 years; 8 boys, 7 girls) were enrolled. The nasopharyngeal airway volume and the cross-sectional morphology were measured with cone-beam computed tomography taken for orthodontic treatment. All measurements were assessed by analysis of covariance (ANCOVA) using Bonferroni post hoc pairwise comparison tests. Covariates were body height and body weight, and the ANB angle and the mandibular plane angle. Significance was set at P < .0019. Nasal airway, superior airway, and total airway volumes of DS participants were significantly smaller than those of the control participants in ANCOVA results adjusted for ANB angle and mandibular plane angle (P = .000). In ANCOVA results adjusted for body height and body weight, no statistically significant differences in the volume measurements were found. The results indicate that the nasopharyngeal airway volume differs between children with and without DS and that the airway volume tends to be smaller in DS children than in children without DS.

Различия в спектральной мощности ЭЭГ и поведении детей с аутистическими расстройствами несиндромального происхождения и с синдромом Дауна

&lt;p style="text-align: justify;"&gt;The diverse nature of the autistic spectrum disorders group (ASD) may be associated with EEG patterns, which may be specific for different profiles of ASD. Approximately 15% of children with Down syndrome (DS) exhibit autistic features, and the cognitive impairment associated with this syndrome remains unclear. We aimed to explore the potential similarities in behavioral disorders and their EEG correlates between non-syndromic ASD and DS children with comorbid autistic features. Three groups of right-handed boys participated in the experiments: typically developed boys (&amp;ldquo;control&amp;rdquo;) &amp;mdash; N = 36; mean age = 7.11, SD = 0.86; DS group age N = 15, mean age 7.2 (SD = 0.94), and ASD group; N &amp;mdash; 36; mean age &amp;mdash; 7.11, SD &amp;mdash; 0.86; DS group age N &amp;mdash; 15, mean age 7.2 (SD &amp;mdash; 0.94), and ASD group; N &amp;mdash; 39; mean age &amp;mdash; 6.24 (SD &amp;mdash; 0.91). Increased theta rhythm spectral power in EEG was found in the frontal and temporal areas, while the alpha rhythm in the occipital area exhibited a reduction in children with DS and ASD as compared with control. The alterations in bioelectric activity, such as increased spectral power f theta in the frontal area and a reduction of EEG spectral power in the occipital alpha band, were partially similar in children with DS and with ASD, albeit less pronounced in DS. A distinctive EEG characteristic of DS was the heightened spectral power of beta rhythm compared to the control group. The Psychoeducational Profile testing in DS revealed inferior results in verbal development (p &amp;lt; 0.05) and cognitive representations (p &amp;lt; 0.05) compared to both the control and ASD groups. However, no differences were found in the total cognitive development scale between DS and ASD. At the behavioral level, impaired verbal and non-verbal intelligence was more prominent in DS than in ASD.&lt;/p&gt;

Adenotonsillectomy outcomes in children with down syndrome and obstructive sleep apnea: a single center study.

This study aimed to evaluate polysomnographic (PSG) outcomes of tonsillectomy and adenoidectomy (T&A) in children with Down Syndrome (DS) and OSA, and the difference in PSG outcomes of T&A between children with DS and age- and gender-matched normally developing (non-DS) children. This was a single center retrospective study that included children with DS and OSA who underwent T&A and had pre-operative and post-operative PSG. The baseline and the differences of pre- and post-operative PSG variables were compared with those of an age- and gender-matched group of non-DS children. Forty-eight children with DS were included in the study; the median age was 5 years (IQR 5.5), 58% were males, and the median BMI was 18.2 (IQR 3.3). There was statistically significant improvement noted between pre-operative and post-operative OAHI 17.9 ± 26.7 vs. 9.1 ± 13.6 (p = 0.022) and non-REM AHI 13.9 ± 19.7 vs. 6.9 ± 14.2 (p = 0.027). However, there were no significant changes in sleep architecture, oxygen desaturation nadir, or CO2 levels. 54.2% of the DS children continued to have moderate to severe OSA after T&A. Univariate logistic regression showed that for every 1% increase in oxygen desaturation nadir, the odds of having residual moderate or severe OSA decreased by 28% (p = 0.002) compared to the cured and mild OSA groups. There was no significant pre- and post-operative differences in PSG variables noted in 16 children with DS compared to age- and gender-matched non-DS children. Despite the overall significant reduction of OAHI in children with DS and OSA who underwent T&A, there was a residual moderate to severe OSA in about half of the included children. Oxygen desaturation nadir was a predicting factor for persistent moderate to severe OSA. There were no significant pre- and post-operative PSG differences in between DS children compared to non-DS children.

Family Self-Support in Managing Down Syndrome Children: A Qualitative Study.

Background and Aim. Down syndrome (DS) is the most common reason for disabilities caused by genetic disorders. Due to the special nature of this disease and the special needs of children with Down syndrome, they are required to receive their families' support. Therefore, the recognition of their problems and needs and also the alternatives for resolving them and promoting their life quality are very useful. Also, since very limited qualitative studies have been conducted, it seems necessary to design a qualitative study. Method. This qualitative study was conducted by the content analysis method and through purposeful sampling method with the participation of 26 participants including 15 mothers, 6 fathers, 3 sisters, and 2 brothers of DS children in 2022-2023. The data were collected through semi-structured interviews. Findings. Using the content analysis method of Graneheim and Lundman (2004), the main theme was "Family self-supporting in protecting Down syndrome children." The subthemes were seven including "trying to find information-support resources," "Giving importance to child's health," "religious beliefs of the family," "child moral education, helping to child's relative self-support," "developing familial support," and "developing child's social interactions." Conclusion and Recommendations. The findings of this study showed that family is the main source of fulfilling the needs of children and their life challenges through using efficient self-support methods. This study introduced family self-support methods in terms of DS children in a way that other families can also manage the problems of their children more efficiently. The present study can be used by trustees of DS to support them and their families. Considering the existence of many problems in children with Down syndrome and the involvement of families, it is suggested that policymakers and community health managers provide the basis for receiving services and social support. For example, it is possible to strengthen the screening systems in the country to diagnose the disease on time and take quick action to solve this problem. Also, by increasing the health insurance coverage and fair distribution of the support resources needed by these people, it promoted the quality of life for them and their families. Also, health policymakers in Iran can take action to increase life expectancy and reduce deaths caused by DS by improving the equitable distribution of health resources and services. Also, public policies should enhance supportive intermediation for prevention and life quality promotion and also decrease health challenges. They are also supposed to lessen the costs of health care. Furthermore, to support social organizations, health service providers and researchers should consider the development of intermediations for the health enhancing and life quality promoting of DS children.

Insights into The Prenatal and Postnatal Knowledge &amp; Critical Observations of Parents with Children who Have Down Syndrome: A Single Center Study

Introduction: Down syndrome (DS) is one of the many genetic syndromes commonly confronted by pediatricians. These people commonly share a few features which include a low level of muscle tone (hypotonia), learning disabilities, and abnormalities of the cranium and facial parts. Aims and Objectives: To assess the pre and postnatal knowledge, of parents with Down syndrome children. Place and Duration of study: This descriptive cross-sectional study was conducted in Shifa International Hospital (SIH), by Final year medical students, in association with the Cytogenetics Department. between December 2019 to September 2021 Material and Methods: All the chidren diagnosed with Down Syndrome at the SIH and their parents were invited to participate in our study. Convenience sampling was used depending solely on the number of parents who had accepted our invitation. A total sample size of 35 was included, of which 15 agreed to participate. A detailed questionnaire having both close ended and open questions in English and Urdu was filled out by those parents who consented. Data was entered and analysed using SPSS version 24.0. pvalue ?0.05 was taken as significant. Results: Our results showed that 11 of the 15 DS children i.e., 73.3% were male and 4 out of 15 i.e., 26.6% were females. None of these children had siblings with the same disorder. 13 of the 15 cases (86.6%) were diagnosed post- natally only 2 cases (13.3%) pre-natally. All the cases i.e., 100% were diagnosed by a pediatrician and none were diagnosed by an obstetrician. Surprisingly increasing age of either parent seemed to increase the incidence of DS offspring. 60.0% (9 of the 15) of parents did not know the condition could be diagnosed prenatally. While 10 of 15 (66.6%) of them were aware of its general complications. Answering open ended questions parents identified the lack of awareness, special educational institutes, and presence of communication gap between them and doctors as some of the factors that hindered the welfare of DS children. Conclusion: Only one parent knew about DS complications pre-natally and only a few were aware that a pre-natal diagnosis could be formed. Postnatal knowledge of parents was sketchy also, especially regarding the future complications faced by DS children, Parents critically observed insufficient public awareness, societal taboos, paucity of local DS data and prenatal medical DS training, and consequently lack of govermnnental support required by special needs DS children in our country.

Micro-CT Imaging of Tracheal Development in Down Syndrome and Non-Down Syndrome Fetuses.

Down syndrome (DS) is associated with airway abnormalities including a narrowed trachea. It is uncertain whether this narrowed trachea in DS is a consequence of deviant fetal development or an acquired disorder following endotracheal intubation after birth. This study aimed to compare the tracheal morphology in DS and non-DS fetuses using microfocus computed tomography (micro-CT). Twenty fetal samples were obtained from the Dutch Fetal Biobank and divided into groups based on gestational age. Micro-CT images were processed to analyze tracheal length, volume, and cross-sectional area (CSA). Mean tracheal length and tracheal volume were similar in DS and non-DS fetuses for all gestational age groups. Mean, minimum, and maximal tracheal CSA were statistically significantly increased in the single DS fetus in the group of 21-24 weeks of gestation, but not in other gestational age groups. In 90% of all studied fetuses, the minimum tracheal CSA was located in the middle third of the trachea. Tracheal development in DS fetuses was similar to non-DS fetuses between 13 and 21 weeks of gestation. This suggests that the narrowed tracheal diameter in DS children may occur later in fetal development or results from postnatal intubation trauma. The narrowest part of the trachea is in majority of DS and non-DS fetuses the middle third. 3 Laryngoscope, 134:4389-4395, 2024.

How do Children with Intellectual Disabilities Empathize in Comparison to Typically Developing Children?

Two studies were conducted to better understand how children with intellectual disabilities (ID) empathize with the feelings of others during social interactions. The first study tested hypotheses of developmental delay or difference regarding empathy in 79 children with ID by comparing them with typically developing (TD) children, matched for developmental age or chronological age. The second study examined specific aspects of empathy in 23 children with Down syndrome (DS), compared with 23 nonspecific ID children, matched for developmental age, and TD children, matched for developmental age or chronological age. An empathy task was administered to the children while their parents completed the French versions of the Empathy Questionnaire and the Griffith Empathy Measure. The first study showed that ID children showed delayed empathy development but were perceived by their parents as deficient in cognitive empathy. The second study showed that DS children were perceived as being more attentive to the feelings of others than TD children and non-specific ID children, matched for developmental age, and as having affective empathy that was similar to that of TD children matched for chronological age. These studies have drawn attention to delays or differences in different dimensions of empathy in children with ID and DS, which need to be taken into account in interventions.

Folate gene polymorphisms CBS 844ins68 and RFC1 A80G and risk of Down syndrome offspring in young Iranian women: A cross-sectional study

Background: Cytogenetics and association studies showed that folate gene polymorphisms can increase the risk of chromosomal nondisjunction and aneuploidies. The folate-metabolizing gene polymorphisms in Down syndrome mothers (DSM) have been assessed in a variety of populations. Reduced folate carrier 1 (RFC1) and cystathionine beta-synthase (CBS) are key enzymes in folate metabolism.&#x0D; Objective: 2 common polymorphisms, CBS 844ins68 and RFC1 A80G, were analyzed to determine their probable risk for having Down syndrome (DS) babies in young mothers of Khuzestan province, Iran.&#x0D; Materials and Methods: This study was conducted on 100 mothers who had trisomy 21 DS children. 100 age- and ethnic-matched mothers with at least 2 healthy children and no history of abnormal pregnancies were considered as control. The samples were collected from all the mothers from June 2019 to April 2021. Genomic DNA was extracted from peripheral blood. The CBS-844ins68 and RFC1-A80G were genotyped using polymerase chain reaction-electrophoresis and restriction fragment length polymorphism, respectively.&#x0D; Results: The frequency of RFC1 AG and GG genotypes in DSM was significantly higher than the control mothers (odds ratio [OR] of 2.38 and 3.07, respectively). The heterozygote genotype of CBS 844ins68 was significantly more prevalent among DSM than the control (OR: 2.419). The OR was significantly increased to 6.667 when the homozygote of both variants was found together.&#x0D; Conclusion: Studying polymorphisms possibly increases the susceptibility of having a DS child. However, ethnicity, nutrition, and epistatic interactions are considerable factors to be evaluated in future studies.&#x0D; Key words: Down syndrome, Folic acid, Polymorphism, CBS, RFC1.

Abstract P399: Cardiovascular Risk Factors and Measures of Early Atherosclerosis in Children With Down Syndrome

Background: Children with Down syndrome (DS) have unique cardiovascular (CV) risk profiles compared to the general population. Early markers of atherosclerosis can be measured and are associated with CV risk factors, although limited data are available for children with DS. Methods: A multicenter, cross-sectional study of children with DS between 8-18 years. CV risks assessed: BMI, blood pressure, diet, activity, smoke exposure, congenital heart disease, hypothyroid, cancer, apnea, family history of early coronary disease, lipids, lipoprotein subfractions, glucose, insulin, and HS-CRP. Vascular testing included pulse wave velocity (PWV) and carotid intimal medial thickness (CIMT). Prevalence of categorical CV risks were compared to population prevalence from NHANES data using Fisher’s exact or chi squared. Vascular measures were converted to Z scores using height and compared to population means with single sample t test, and linear regression evaluating associations between CV risks and vascular measures. Results: A total of 55 children with DS participated, 28 (51%) female, mean age 14.3 years (range 8.1-18.9). Compared to NHANES, DS children were more likely to have triglycerides &gt;90 mg/dL (63% DS vs. 10% NHANES, p=&lt;0.001) and non-HDL-cholesterol &gt;120 mg/dL (54% DS vs. 22% NHANES, p = &lt;0.001). PWV and CIMT Z scores were not significantly different from general population with mean (SD) of -0.1 (1.0) and 0.27 (1.5), respectively. Univariable analysis for PWV showed significant associations with systolic blood pressure [coefficient (95% CI): 0.04 (0.02, 0.06)] and smoke exposure [1.70 (0.35, 3.05)]. No associations were found for CIMT. Multivariable models are shown in Table 1. PWV was associated with BMI percentile and smoke exposure. No associations were found for CIMT. Conclusion: Children with DS had higher rates of lipid abnormalities compared to the general population. Lipid abnormalities were not associated with CIMT or PWV, and vascular measures adjusted for height were similar to children without DS.

Clinical Features and Cardiac Anomalies of Children with Down Syndrome. A Literature Report

Background: Clinical diagnosis of Down syndrome is based on the characteristic features and associated malformations. Nonetheless, there is significant individual diversity in the clinical presentation. Not every physical characteristic may be present, particularly in infants. At the same, congenital heart abnormalities (CHD) remain a major predictor of death in children with Down syndrome (DS) despite improvements in surgical therapy for these conditions. The effects of DS vary from person to person, with some people having a significant impact while others are well and capable of living unassisted as adults. So, this study is done to understand the pattern of clinical features and cardiac anomalies in various research reports.Aim: This scoping review aims to describe the frequency and distribution of clinical features and cardiac anomalies in children with Down syndrome and to consider the clinical implications of this knowledge.Methods: Medline, CINHAL, and PubMed databases were searched electronically to identify pertinent articles from 2000 to 2023. Children with Down syndrome and cardiac comorbidities aged 18 years or younger met the inclusion criteria. Articles that were not peer-reviewed or written in English were disqualified at the title or abstract level.Results: Literature revealed that the common physical and dysmorphic features found in individuals with Down syndrome include flat facial profile, epicanthal folds, upward slanting eyes, hypotonia, small ears, short neck, protruding tongue, small hands and feet, brushfield spots, sandal gap, and short stature. It's important to note that while these physical features are commonly associated with Down syndrome, not all individuals will exhibit every characteristic, and the severity can vary greatly among individuals.A high prevalence of CHD was reported in DS children from a group where consanguinity was relatively frequent. The prevalence of congenital heart disease in children with Down syndrome is the highest reported, especially when the researchers have used diagnostic ultrasound. VSD and AVSD, followed by persistent ductus arteriosus, and tetralogy of Fallot are the most common CHD in DS children. Recent research suggests that though the incidence of CHD in DS children has remained stable over time, there may be trends in some forms of CHD, with a rise in isolated, less severe kinds and a reduction in complicated, more severe ones. Individuals with Down syndrome can lead fulfilling lives with appropriate support and resources.Conclusion: All neonates with a new diagnosis or suspicion of DS must undergo comprehensive screening, which includes clinical examination, ECG, and echocardiography in the second trimester combined with fetal echocardiography when the fetal ultrasonography raises the likelihood of an abnormality. Literature proves that regardless of the existence of DS, early CHD repair is advised for newborns susceptible to biventricular surgery. For the most part, DS is not linked to an increased perioperative risk for CHD.Understanding DS heterogeneity will help professionals provide better prenatal counseling, assist parents in establishing focused early interventions to improve daily activities and the quality of life for their children, and assist policy-makers in providing and allocating resources for disability services. A sustaining commitment to scientific and clinical research studies is necessary to enhance the quality of life and survival for DS patients from infancy into adulthood.

Growth charts for weight and height of Indian children with Down syndrome.

Age and gender specific growth charts for Indian children with Down syndrome (DS) based on longitudinal data have not been published. To establish percentile growth charts for DS children inhabiting northwestern parts of India, body weight and length/height of 1125 (Male: 752, Female: 373) children with DS aged <1 month to 10 years, enrolled from the "Genetics Clinic" were measured at half yearly age intervals in the "Growth Clinic" of the Institute from August 1994 to November 2018. A total of 2089 observations were made on these children using standardized anthropometric techniques and instruments following a prospective mixed-longitudinal growth research design. Using the LMS method, age and sex-specific percentile growth charts (<1 month to 10 years) for weight, and length/ height were generated. Unpaired t-test was used to compare mean growth attainments of study children with those of DS patients representing other population groups as well as their normal Multicentre Growth Reference Study (MGRS and Indian Academy of Pediatrics (IAP) counterparts. The 50th percentile growth curves for both weight and length/height of Indian children with DS demonstrated a regular increase. As compared to their normal MGRS and Indian (IAP) counterparts, the children with DS had lower weight and height attainments. The boys and girls with Down syndrome showed short stature (height < 3rd centile) from the age of 1 year till 10 years and also became underweight beyond 5 years. As compared to their normal counterparts, children with Down syndrome exhibited compromised auxological attainments. The use of growth charts presented herein may be used to compare and monitor growth and nutritional status of Indian children with Down syndrome.

Clinical and neurological aspects of endocrine disorders in Down syndrome in children

BACKGROUND: Down syndrome is a common genetic pathology in which multiple defects are observed, including endocrine disorders of varying severity. Hypothyroidism occupies a leading position among all hormonal disorders in such children. However, the significance of hypofunction of the thyroid gland in the development and progression of cerebral dysfunction in children with trisomy 21 has not been sufficiently studied.&#x0D; AIM: Assessment of the impact of endocrine pathology in children with Down syndrome on the state of neurological functions.&#x0D; MATERIALS AND METHODS: We examined 50 children aged 3–5 years with complete trisomy of chromosome 21. At the same time, the number of boys was 13 (32%), girls — 27 (68%). Children of the main group had verified endocrine disorders associated with Down syndrome. Children in the control group had a confirmed diagnosis of Down syndrome, but did not have endocrine pathology, and their number was 10 people — 8 girls (80%) and 2 boys (20). Everyone underwent speech therapy and neuropsychological examination. Children of the main and control groups, in addition to standard biochemical and general blood tests, underwent a detailed laboratory study with determination of T3, T4, TSH levels. An advisory examination and dynamic observation by a speech therapist for 6 months. All children were assessed by a neurologist according to generally accepted methods.&#x0D; RESULTS: Data have been obtained indicating a fairly widespread prevalence of thyroid dysfunction among patients with Down syndrome. However, clinical symptoms may not be specific due to their similarity to the phenotypic manifestations of a genetic disease. Thus, patients with clinically significant hypothyroidism had more severe cognitive impairment. There was a significantly lower level of psycho-speech development in 95.3±3.1% of cases (p 0.001) according to the results of comprehensive neuropsychological and speech therapy examinations. In the group of children with severe hypothyroidism, significantly more severe disorders of mental functions were encountered. At the same time, as thyroxine was prescribed in age-appropriate dosages for 3 months, the child’s condition improved, mnestic functions and voluntary attention improved in 60% of patients in the main group. In 70% of cases, there was an improvement in the evacuation function of the gastrointestinal tract, in 65% there was a normalization of the humidity and temperature of the skin.&#x0D; CONCLUSION: Timely diagnosis of thyroid gland dysfunction is an important preventive measure for genetic abnormalities associated with multiple comorbid pathologies, such as trisomy 21, Down syndrome. Timely correction of existing disorders can improve the quality of life of such children and their relatives and can contribute to their adequate socialization and adaptation in modern society.

Association Study of Polymorphisms in Folate Metabolism and Mothers of Down Syndrome Offsprings in the Southwest of Iran

Background: Down syndrome (DS) is a complex genetic disease that is caused by having three copies of chromosome 21. A possible association between polymorphisms in maternal folate metabolism genes and DS has been evaluated. Objectives: It was aimed to first investigate the influence of C677T and A1298C polymorphisms in the methylenetetrahydrofolate reductase gene (MTHFR) and plasma homocysteine (Hcy) on the maternal risk for DS in the southwest of Iran. Methods: The MTHFR C677T and A1298C polymorphisms were genotyped using restriction fragment length polymorphism and Sanger sequencing, respectively. Allele and genotype frequencies and the dominant model of the MTHFR C677T and A1298C polymorphisms were evaluated in 80 mothers of children with DS and 80 control mothers. Eventually, the ELISA test was used to compare the concentration of plasma Hcy in both groups. Results: A significant association was observed in the 677T and 1298C alleles between the mothers of DS and control groups (P = 0.00077 and P = 0.01248, respectively). Further, the median concentrations of Hcy were significantly higher in mothers with DS babies compared to the control group (P &lt; 0.05). Conclusions: There was an association between MTHFR C677T, A1298C, and plasma Hcy concentrations as the maternal risk of mothers with DS children.

Novel Transfer Learning Based Deep Features for Diagnosis of Down Syndrome in Children Using Facial Images

Novel Transfer Learning Based Deep Features for Diagnosis of Down Syndrome in Children Using Facial Images

Orofacial myofunctional and polysomnographic characteristics of children with Down syndrome and obstructive sleep apnea: a pilot study.

To investigate oropharyngeal structures and functions in a pediatric population with Down Syndrome (DS) and obstructive sleep apnea (OSA) and to correlate with the apnea/hypopnea index (AHI) and sleep questionnaires. 12 Children with DS and OSA, between the age of 4 and 12 years old, underwent polysomnography (PSG); sleep questionnaires, Pediatric Sleep Questionnaire (PSQ) and Obstructive Sleep Apnea-18 (OSA-18); and speech-language evaluation using the Short Evaluation of Orofacial Myofunctional Protocol (ShOM). There was a positive correlation between ShoM higher scores and the apnea-hypopnea index (AHI) and between ShoM and the number of hypopneas. The orofacial myofunctional alterations observed in the studied group were: oral breathing, alteration in lip tonus and competence, tongue posture at rest and in swallowing, and occlusal alteration. There was also an increased risk for OSA according to the sleep questionnaires, as well as the presence of obesity and overweight, but without correlation with the severity of OSA. All DS children show alterations in orofacial characteristics, higher scores being associated to severe OSA. Orofacial myofunctional evaluation may help to identify different phenotypes in Down syndrome children with Obstructive sleep Apnea, enhancing the need for a multidisciplinary approach.

Promoting Positive Deviance from PIK POTADS North Sumatra to Improve the Quality of Life of Down Syndrome Children

Down syndrome (DS) is a chromosome 21 condition that leads to abnormalities in a number of organs, unusual facial traits, as well as intellectual and developmental problems. It takes more time, effort, and patience to raise kids with DS, which makes it a hard undertaking. Another challenging difficulty is the significant amounts of stress and sadness that DS parents experience. With the help of strategies and local values, this program seeks to educate parents of DS patients so they may create social change (positive deviation). This service is provided in two stages, socialization and education, as well as genetic counseling, to help influence social change in society, particularly in families with DS children. According to socialization research findings, the biggest health issues for kids with DS are metabolic and dietary issues. During discussion, parents' emotional states were also exposed. In order to learn more about the family history of genetic illnesses and risk factors, parents receive genetic counseling. A variety of experts are involved in this service's education, including psychologists, psychiatrists, and pediatricians, who can give an overview of how to appropriately care for DS.

The role of imageability in noun and verb acquisition in children with Down syndrome and their peers with typical development.

Our main objective was to analyze the role of imageability in relation to the age of acquisition (AoA) of nouns and verbs in Spanish-speaking children with Down syndrome (DS) and their peers with typical development (TD). The AoA of nouns and verbs was determined using the MacArthur-Bates CDIs adapted to the profile of children with DS. The AoA was analyzed using a linear mixed-effect model, including factors of imageability, group, and word class, and controlling for word frequency and word length. This analysis showed that high imaginable and short words were acquired early. Children with DS acquired the words later than TD peers. An interaction between imageability and group indicated that the effect of imageability was greater in the DS group. We discuss this effect considering DS children's phonological memory difficulties. The overall results confirm the role that imageability and word length play in lexical acquisition, an effect that goes beyond word class.

Serological investigation of vaccine-induced antibodies for measles, rubella, and yellow fever viruses in children vertically exposed to Zika virus or with down syndrome.

Vaccination schedules, as well as their effectiveness and contraindications, need to be evaluated regularly, especially in specific situations. Congenital Zika Syndrome (CZS) is a severe condition that results in extensive functional and neurological impairment of fetuses and newborns due to Zika virus tropism for fetal neural progenitor cells. Down Syndrome (DS) is the leading genetic cause of intellectual disability. The immune impairment in DS has already been described, but little is known about the immune response of CZS children. Thus, CZS and DS are specific conditions that can be considered for a reassessment of the available immunizations. Here, we carried out serological analyses of attenuated vaccines-induced antibodies for measles, rubella, and yellow fever viruses in children aged 2-7, grouped into asymptomatic controls, DS children, and CZS children. Plasma samples were taken, and vaccination records were compiled during clinical follow-up. Enzymatic immunoassays for quantifying anti-measles and anti-rubella IgG were performed to assess the response to the Measles, Mumps, and Rubella (MMR) vaccine. Plaque Reduction Neutralization Test (PRNT) was performed to investigate neutralizing antibodies in response to the Brazilian vaccine strain of yellow fever (YF-17DD). We highlight similar levels of anti-measles IgG and neutralizing antibodies for YF-17DD among CZS, DS, and asymptomatic children, although low positivity of measles data was seen in the three groups. In DS children, the 2-4-year-old group had an increased level of anti-measles IgG compared to the older group of children aged five to seven years. Lower anti-rubella IgG levels were observed in CZS and DS children compared to asymptomatic children. For anti-rubella IgG, the good performance of vaccination in asymptomatic children is due to younger ones rather than older ones. There were no reports of adverse events after the use of the MMR and YF-17DD indicating that CZS and DS could continue to receive these vaccines, but our data draws attention to the necessity of monitoring the vaccination response in CZS and DS children over time and the possible need to adhere to national measles vaccination campaigns. Scientific research needs to continue to help develop appropriate CZS and DS health guidelines.