Syndrome Children Research Articles

A critical role of the podocyte cytoskeleton in the pathogenesis of glomerular proteinuria and autoimmune podocytopathies.

Selective glomerular filtration relies on the membrane separating the glomerular arterioles from the Bowman space. As a major component of the glomerular filtration barrier, podocytes form foot processes by the actin cytoskeleton, which dynamically adjusts in response to environmental changes to maintain filtration barrier integrity. The slit diaphragms bridge the filtration slits between neighboring foot processes and act as signaling hubs interacting with the actin cytoskeleton. Focal adhesions relay signals to regulate actin dynamics while allowing podocyte adherence to the basement membrane. Mutations in actin regulatory and signaling proteins may disrupt the actin cytoskeleton, resulting in foot process retraction, effacement, and proteinuria. Large-scale gene expression profiling platforms, transgenic animal models, and other in vivo gene delivery methods now enhance our understanding of the interactions among podocyte focal adhesions, slit diaphragms, and actin dynamics. In addition, our team found that at least 66% of idiopathic nephrotic syndrome (INS) children have podocyte autoantibodies, which was defined as a new disease subgroup-, autoimmune podocytopathies. This review outlines the pathophysiological mechanisms of podocyte cytoskeleton protein interactions in proteinuria and glomerular podocytopathy.

PENINGKATAN KETERAMPILAN MOTORIK HALUS MELALUI TEKNIK MOZAIK PADA ANAK DOWN SYNDROME DI KAMPUNG BABAKAN SAWAH

Improvement of fine motor skills through mosaic technique in one of the Down Syndrome children in Babakan Sawah village. This research is based on the observations and experiences of researchers that fine motor skills in one of the Down Syndrome children are still low. The limitations of the media at home, as well ase the lack of stimulus provided by parents in improving fine motor skill is less than optimal. This research is uses single case experimental method with a one child, who is seven years old, famale, as a participant involved in this research. The teachnique of collecting data is observation sheets, and documentation, while for data analysis technique using descriptive statistics. The conclusion of this research is using mosaiq technique for improvement of fine motor skills in the Down Syndrome children in Babakan Sawah village. The ability of the child’s fine motor skills before being given the intervention has not yet developed (BB), in intervention 1 begins to develop (MB), and after being given th intervention it develope as expected (BSH). From this description, it can be concluded that the application of the mosaic technique can improve fine motor skills of Down syndrome in Babakan Sawah village. Based on the conclusions, tp parents who have the Down Syndrome children, it is suggested that parents who have children with special need should be able to provide stimulus to children in improving soft motor skills

A Set of Movement Therapy Activities Developed for the Enhancement of Performing Arts Skills of Down Syndrome Children in Tertiary Education

The purpose of this research was to develop a set of movement therapy activities developed for the enhancement of performing arts skills of Down Syndrome children in tertiary education. The population used in the research was purposive sampling, consisting of 2 students with Down Syndrome at Bachelor of Arts Program in Performing Arts, Chiang Mai Rajabhat University. The tools in this research consisted of 2 parts: 1) A set of movement therapy activities developed for the enhancement of performing arts skills of Down Syndrome children in tertiary education, 2) Performing arts skills assessment form for children with Down syndrome in tertiary education. The tools were developed by studying the documentation and research related to Down Syndrome, learning theory, performing arts skills, movement therapy, and passed the quality inspection by using the IOC index of conformity by 3 experts. The results of the research found that 1) a set of movement therapy activities developed for the enhancement of performing arts skills of Down Syndrome children in tertiary education, consisting of 8 activity plans which having an index of conformity (IOC) between 0.70 and 1.00 2) The 12-item performing arts skills assessment form for children with Down Syndrome in tertiary education has an index of conformity (IOC) between 0.70 and 1.00, so this tool was reliable enough to be used as a enhancing tool which be able to build performing arts skills for children with Down Syndrome in tertiary education.

Relationship between Psychological well-being and Marital Conflicts among Parents with Down Syndrome Children

The present study is conducted in Pakistan and will investigate the relationship between psychological well-being and marital conflicts among parents with Down syndrome children. The study was conducted in institutes of Islamabad, which include the Al-Farabi Institute and the National Institute of Rehabilitation Medicine. The study was conducted in the speech and physiotherapy department of institutes and included those patients who were suffering from Down syndrome. Purposive sampling was used to acquire the data from 60 parents (30 mothers and 30 fathers) of Down syndrome children. Regression and correlation analysis was performed to determine the link between independent and dependent variables as well as the impact of psychological well-being (autonomy, environmental mastery, purpose in life, personal growth, self-acceptance, and positive relations) on marital conflicts. The results show a positive and insignificant relationship between autonomy, positive relations, personal growth, self–acceptance, and marital conflicts but also reveal a negative and significant relationship between environmental mastery, purpose in life, and marital conflicts due to a poor environment. The research will help parents to lessen their stress and improve their environment. It will also guide the NGOs and civil society to encourage the parents and give them awareness about the coping strategies to deal with these situations.

Conservative Management Techniques for Ideal Grooming and Upbringing of Downs Syndrome Children

Background: Down syndrome are slow learners having mild to moderate intellectual disability with co-morbidities, we need to pay special attention on conservative management techniques like early intervention programs, speech therapies, physiotherapies, exercises, sports, schooling and education etc. to make these children intellectual compatible for a normal life. Aim: To identify the conservative management techniques for improving the quality of life for down syndromes. Methodology: A descriptive cross-sectional survey (designed after literature search) was conducted from the parents of Down Syndromes at special children’s schools in Islamabad and Rawalpindi according to inclusion criteria i.e., school going down syndromes and residents of Islamabad and Rawalpindi, in an interactive counselling session conducted by authors in collaboration with pediatrician, keeping the questionnaire anonymous. Results: For the management of Down Syndromes, out of 44 parents, 36(81.8%) agreed on home based teaching, 34(77.3%) agreed on exercise, gym and sports for down syndromes. Around 38(86.4%) agreed on speech therapy and social interactions, 31(70.5%) parents agreed on controlled and healthy diet and 34(77.3%) parents said brain storming and learning new things should be in practice for down syndromes. Conclusion: Down syndrome is a complex condition requiring a multi-disciplinary team of professionals to manage the myriad of problems faced by the patients. Aside from these, a vital role is played by parents, teachers & the community itself in taking care of these special individuals. Also, Down syndrome is characterized by learning disabilities as its hallmark feature but their learning abilities can be improved through certain conservative management techniques. Keywords: Down Syndrome, School, Exercise

Gambaran Kesehatan Gigi Mulut dan Jumlah Streptococcus Sp pada Anak Sindroma Down di Kecamatan Patrang dan Sumbersari Jember

Down syndrome is a disorder that causes distinctive physical and mental disorders, causing a slower learning process than normal people. One of the consequences of these physical and mental limitations is the magnitude of dental and oral health problems. To check the state of oral hygiene, DMF-T and OHI-S examinations can be done. In addition, the presence of caries causes, such as Streptococcus sp can be a state of oral hygiene. This study aimed to examine the description of dental and oral health and the effect of the number of Streptococcus sp bacteria in saliva on the incidence of caries in children with Down syndrome at SLB Negeri Patrang, SLB C Taman Pendidikan and Asuhan (TPA) Sumbersari and SLB C Bintoro Regency. Jember. This study was a descriptive study with cross sectional design. This study was held at SLB Negeri Patrang, SLB C Bintoro, and SLB C TPA Sumbersari. This study showed there were differences to the caries incidence and dental hygiene of Down syndrome’s children at SLB Negeri Patrang, SLB C Bintoro, SLB C TPA Sumbersari. Besided it, there were significant differences between the DMF-T index and the colonies of Streptococcus sp, while there was no significant difference of oral hygiene down syndrome children in SLB Negeri Patrang, SLB C Bintoro, SLB C TPA Sumbersari. Briefly, this study showed that the number of Streptococcus sp colonies not frequently correlated to caries incidence and oral hygiene.

Conservative Management Techniques for Ideal Grooming and Upbringing of Downs Syndrome Children

Introduction: Down syndrome are slow learners having mild to moderate intellectual disability with co-morbidities, we need to pay special attention on conservative management techniques like early intervention programs, speech therapies, physiotherapies, exercises, sports, schooling and education etc. to make these children intellectual, groomed and compatible for a normal life. Objective: To identify the conservative management techniques for improving the quality of life for down syndromes. Methodology: A descriptive cross-sectional survey (designed after literature search) was conducted from the parents of Down Syndromes at special children’s schools in Islamabad and Rawalpindi according to inclusion criteria i.e., School going down syndromes and residents of Islamabad and Rawalpindi, in an interactive counselling session conducted by authors in collaboration with pediatrician, keeping the questionnaire anonymous. After data collection it was entered in SPSS v25 for statistical analysis in terms of frequencies and percentages. Results: For the management of Down Syndromes, out of 44 parents, 81.8% (n=36) agreed on home based teaching, 77.3% (n=34) agreed on exercise, gym and sports for down syndromes. Around 86.4% (n=38) agreed on speech therapy and social interactions, 70.5% (n=31) parents agreed on controlled and healthy diet and 77.3% (n=34) parents said brain storming and learning new things should be in practice for down syndromes. Conclusion: Down syndrome is a complex condition requiring a multi-disciplinary team of professionals to manage the myriad of problems faced by the patients. Aside from these, a vital role is played by parents, teachers & the community itself in taking care of these special individuals. Also, Down syndrome is characterized by learning disabilities as its hallmark feature but their learning abilities can be improved through certain conservative management techniques. If these techniques are adopted, individuals with Down syndrome can learn certain skills and become a useful member of the society. Keywords: Down Syndrome, School, Exercise

Prevalence and surgical management of cholesteatoma in Down Syndrome children

ObjectiveThe objective was to report the outcomes of surgical management of cholesteatoma in Down Syndrome (DS) children and to determine the prevalence of cholesteatoma in DS children at three academic tertiary care centers. MethodsA retrospective chart review was performed of all DS children diagnosed with cholesteatoma from three tertiary care academic centers. Demographic data, comorbidities, imaging findings, surgical management, and pre- and postoperative pure tone averages were collected. ResultsThe prevalence of cholesteatoma in DS patients at these three institutions was calculated to be 8/802 (0.998%), 4/448 (0.893%), and 4/1016 (0.394%), with an average prevalence of 0.762%. Of the 16 patients with cholesteatoma identified, the average age of diagnosis was 10.8 years, and 5/16 (31%) had at least three sets of pressure equalizing tubes (PETs) placed. Of the 13 patients with preoperative CTs, 4/13 (30.8%) had blunting of the scutum, 4/13 (30.8%) had tegmen involvement, 1/13 (7.7%) had erosion of the semicircular canal, 2/13 had facial nerve dehiscence, and 7/13 (53.8%) had ossicular chain erosion. For surgical management, disease control was attained in 4/16 children with tympanoplasty only and canal wall up (CWU) tympanomastoidectomy in 11/16 patients. Available pre- and postoperative audiograms were evaluated; however, there was insufficient audiological data to contribute to outcomes. ConclusionCholesteatoma occurs in nearly 1% of DS patients, and the disease tends to be advanced with tegmen involvement in nearly a third of patients, and ossicular erosion seen in more than half the patients. A CWU procedure can be successful in managing DS patients with cholesteatoma when consistent long term follow-up is planned. Close monitoring and a high index of suspicion for cholesteatoma are essential to prevent delays in diagnosis and treatment of DS patients with a history of multiple sets of PET placement.

How Do Parents Introduce Basic Mathematics to Down Syndrome Children?

Purpose – This study aims to analyze the involvement of parents in introducing basic mathematics to children with down syndrome.Design/methods/approach – This study uses a qualitative approach by conducting online interviews with parents of children with down syndrome. Participants were determined using purposive sampling involving five parents. This study reveals that the involvement of parents in introducing basic mathematics to children with down syndrome has different variants. Collecting data was using semi-structured interviews with interview guidelines, recorders, and documentation. Data analysis used the Milles and Huberman model.Findings – Parents initiate methods and media in introducing basic mathematics to children. Parents can also identify the child's response, identify the advantages and disadvantages of the media, and provide alternative solutions to the obstacles and challenges faced.Research implications/limitations – This study explains introducing strategic basic mathematical abilities in children with down syndrome and the involvement of parents in educating children with down syndrome in basic mathematics.Practical implications – Parents of children with down syndrome need to introduce children to math early on. Parents have an essential role in introducing their down syndrome children's basic mathematical abilities by utilizing the media and giving good responses.Originality/value – This research contributes to educating children with down syndrome in basic mathematics.
 Paper type: Case study

Outcomes in growth hormone-treated Noonan syndrome children: impact of PTPN11 mutation status.

IntroductionMutations in PTPN11 are associated with Noonan syndrome (NS). Although the effectiveness of growth hormone therapy (GHT) in treating short stature due to NS has been previously demonstrated, the effect of PTPN11 mutation status on the long-term outcomes of GHT remains to be elucidated.MethodsThis analysis included pooled data from the observational American Norditropin Studies: Web-Enabled Research Program (NCT01009905) and the randomized, double-blinded GHLIQUID-4020 clinical trial (NCT01927861). Pediatric patients with clinically diagnosed NS and confirmed PTPN11mutation status were eligible for inclusion. The effectiveness analysis included patients who were GHT-naïve and pre-pubertal at GHT start. Growth outcomes and safety were assessed over 4 years of GHT (Norditropin®, Novo Nordisk A/S).ResultsA total of 69 patients were included in the effectiveness analysis (71% PTPN11 positive). The proportion of females was 32.7 and 30.0% in PTPN11-positive and negative patients, respectively, and mean age at GHT start was 6.4 years in both groups. Using general population reference data, after 4 years of GHT, the mean (s.d.) height SD score (HSDS) was −1.9 (1.1) and −1.7 (0.8) for PTPN11-positive and PTPN11-negative patients, respectively, with no statistical difference observed between groups. The mean (s.d.) change in HSDS at 4 years was +1.3 (0.8) in PTPN11-positive patients and +1.5 (0.7) in PTPN11-negative patients (no significant differences between groups). Safety findings were consistent with previous analyses.ConclusionsGHT resulted in improved growth outcomes over 4 years in GHT-naïve, pre-pubertal NS patients, irrespective of PTPN11 mutation status.

EP151: Outcomes in growth hormone-treated Noonan syndrome children: Impact of PTPN11 variant status

Variants in PTPN11 are known to be associated with Noonan syndrome (NS), accounting for approximately 50% of cases. Data from a noninterventional and phase 3 study of Norditropin (somatropin; Novo Nordisk A/S, Denmark) were used to assess the impact of PTPN11 variant status on growth outcomes in children with NS receiving growth hormone therapy (GHT).

MEAN LEVEL OF PROTEIN C, PROTEIN S AND ANTITHROMBIN III IN PEDIATRIC NEPHROPATHIC SYNDROME

The triad of clinical symptoms linked with proteinuria of nephrotic range, including hypoalbuminemia and edema, is known as nephrotic syndrome. When body excrete more than40 mg/m2/hr of protein or a first morning protein: creatinine ratio of more than 2-3: 1 then we call it proteinuria of nephrotic range.(1)It is estimated that the vast majority of children with nephrotic syndrome have some form of primary or idiopathic sickness, with minimal change disease being the most prevalent.Thromboembolic consequences are more common in people who have nephrotic syndrome. (2) This study tends to shed light if there is increase or decrease in level of protein C, S or antithrombin III in nephrotic syndrome. OBJECTIVE: To determine the mean level of protein C, protein S and AT Ill in children with nephrotic syndrome. SETTING: The research was conducted at Department of Haematology at Children Hospital Lahore. STUDY DESIGN: Cross sectional study. DURATION OF STUDY: The study was completed in six months from 25-08-2017 to 29-02-2018. DATA COLLECTION PROCEDURE: Patients fulfilling the inclusion criteria were taken for Protein C, Protein S and Antithrombin III assays Collect blood 3ml (9 vol) in 0.109M (3.2%) anticoagulant (1 Vol) and Centrifuge. All centrifuge specimens were run in DIAGNOSTIC STAGO. Results: A total of 100 children with nephrotic syndrome were enrolled after fulfilling inclusion criteria. The mean age of the children was 6.26±2.72 month. 69(69%) were male children. Protein C level was 95.31±16.02, Protein S level 84.05±13.31 and antithrombin III level was 86.50±16.36. Conclusion: Protein C, S and Antithrombin III level were within normal range. Further studies are needed to delineate the exact pathogenesis behind thromboembolic phenomenon in nephrotic syndrome children.

A Novel Mutation of ORNT1 Detected in a Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome Child by Clinical Whole-Exome Sequencing.

Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome, an inborn error of metabolism, is an inherited syndrome caused by loss-of-function mutations in the SLC25A15, resulting in ornithine translocase1 (ORNT1) deficiency. Disrupted ornithine transportation in an affected individual usually manifests with the accumulation of intermediate metabolites, leading to neurological impairment, hepatitis, and/or protein intolerance at various ages of onset. In this paper, we report a compound heterozygous mutation in SLC25A15 from a 2-year-old girl who presented with neurological alterations and hepatic failure. Before developing neurological sequelae, she had signs of globally delayed development. The accumulation of toxic metabolites may explain these neurological consequences. After biochemical confirmation of HHH, whole-exome sequencing (WES) was performed, which identified mutations at codons 21 and 179 of SLC25A15 that are predicted to result in the loss of function of ORNT1. Each of the mutations was found to be inherited from one of her parents. After therapy, her toxic metabolites decreased significantly. In conclusion, HHH syndrome frequently manifests with nonspecific symptoms and unapparent biochemical profiles, which may lead to delayed diagnosis. Correction of the accumulating metabolites is necessary to prevent irreversible neurological impairment. Furthermore, performing a WES provides a shortcut for accurate diagnosis.

The Correlation Between Sense of Community Towards Parents Who Had Down Syndrome Children

Every parent wants to have the child they want. Parents want to have children who are perfect physically, mentally, and spiritually. But in reality not all parents have this opportunity, in some cases, there are some of them who have children who experience mental retardation such as Down syndrome. One of the factors that influence the caregiver's burden is social support, where social support can be provided by a community. This research is a correlational quantitative research. This objective of the study was to determine whether there is a correlation between a sense of community and the burden of caregivers on parents who have children with Down syndrome. The population in this study were parents who had children with Down syndrome. The sample in this study amounted to 142. The sampling technique in this study was carried out by purposive sampling technique. The instrument used in this study was a caregiver burden scale consisting of 38 items (31 valid items and 7 invalid items) with a reliability coefficient of 0.873 and a sense of community scale consisting of 34 items (30 valid items and 4 invalid items). Reliability coefficient was 0.915. The results of calculations with data processing software, obtained a sense of community is in the high category and caregiver burden is in the low category. Hypothesis testing was carried out using the Spearman correlation formula resulting in a rho value of -0.473 with a significance value of 0.000. Thus the hypothesis which reads that there is a negative correlation between sense of community and caregiver burden on parents who have children with Down syndrome is accepted. The higher the sense of community, the lower the caregiver's burden. Vice versa, the lower the sense of togetherness, the higher the caregiver's burden. Setiap orang tua pasti mendambakan memiliki anak yang sesuai dengan yang mereka idam-idamkan. Para orang tua ingin memiliki anak yang sempurna baik secara fisik, mental, maupun rohani. Namun pada kenyataannya tidak semua orang tua memiliki kesempatan tersebut, pada beberapa kasus, ada sebagian dari mereka ditakdirkan memiliki anak yang mengalami retardasi mental seperti down syndrome. Salah satu faktor yang mempengaruhi caregiver burden adalah dukungan sosial, dimana dukungan sosial dapat diberikan oleh suatu komunitas. Penelitian ini merupakan penelitian kuantitatif korelasional. Penelitian ini bertujuan untuk mengetahui apakah ada hubungan antara sense of community dengan caregiver burden pada orang tua yang memiliki anak down syndrome. Populasi dalam penelitian ini adalah orang tua yang memiliki anak down syndrome. Sampel dalam penelitian ini berjumlah 142. Teknik pengambilan sampel dalam penelitian ini dilakukan dengan teknik purposive sampling. Instrumen yang digunakan dalam penelitian ini berupa skala caregiver burden yang terdiri dari 38 aitem (31 aitem valid dan 7 aitem tidak valid) dengan koefisien reliabilitas sebesar 0,873 dan skala sense of community yang terdiri dari 34 aitem (30 aitem valid dan 4 aitem tidak valid) dengan koefisien reliabilitas sebesar 0,915. Hasil perhitungan dibantu dengan software pengolah data, diperoleh sense of community berada pada kategori tinggi dan caregiver burden berada pada kategori rendah. Uji hipotesis dilakukan dengan formula korelasi Spearman menghasilkan nilai rho sebesar -0,473 dengan nilai signifikansi 0,000. Dengan demikian hipotesis yang berbunyi ada hubungan negatif antara antara sense of community dengan caregiver burden pada orang tua yang memiliki anak down syndrome diterima. Semakin tinggi sense of comunity, maka semakin rendah caregiver burden. Begitu juga sebaliknya, Semakin rendah sense of community, maka semakin tinggi caregiver burden.

Electromyographic Study of Masticatory Muscle Function in Children with Down Syndrome.

This study assessed the electrical activity of the masticatory muscles in both children with down syndrome (DS) and healthy children. After applying the inclusion and exclusion criteria, 30 patients aged between 7.9 and 11.8 years participated in the study. They were divided into two groups of 15: DS and non-DS. A DAB-Bluetooth device (Zebris Medical GmbH, Germany) was used to record the electromyographical (EMG) activity of the right and left temporal and of the right and left masseter muscles at rest and during maximum voluntary clenching (MVC). The asymmetry index between right and left masticatory muscle EMG activity was calculated for each position. The Mann–Whitney U test was applied to analyze the study results. There were no differences in the electrical activity of the temporal and masseter muscles at rest between the groups. During MVC, the asymmetry index for the masseter muscles was significantly higher in subjects with DS. The electrical potentials of the temporal and masseter muscles in children with DS were significantly lower compared to the corresponding parameters for healthy children when clenching.

A CROSS-SECTIONAL SURVEY ON KNOWLEDGE, ATTITUDE AND PRACTICE IN PARENTS WITH DOWN SYNDROME CHILDREN

BACKGROUND AND AIMS Parents with Down syndrome children may be unfamiliar with coping strategies because of limited knowledge, negative attitude and inappropriate practice. To the best of author’s knowledge, no study has been conducted in Pakistan till date to explore the issue. METHODOLOGY A cross-sectional survey was conducted among parents of children with Down syndrome, enrolled in the study via convenience sampling technique. Data was collected on self-administered questionnaire based on parental knowledge, attitude and practice on Down syndrome distributed via email or WhatsApp group. RESULTS A total number of 24 parents with Down syndrome included in this study involving majority of mothers (52.2%) showed that (79.2%) parents understand that Down syndrome is a genetic disorder, (91.7%) agreed that children are born through it. Moreover, (83.3%) think that the syndrome can be detected during pregnancy through prenatal tests whereas (100%) showed that physiotherapy, occupational and speech therapy plays a pivotal role in the management of disorder. Besides, (83.3%) parents have recommended the special health services. Therefore, (87.5%) parents will prefer to seek the genetic counselling when planning for next child. CONCLUSION It was concluded that majority of parents have demonstrated the sound knowledge, positive attitude and proactive practice among parents with Down syndrome children. Thus, multicenter large scale studies should be conducted to investigate the factors associated to parent-child relationship and promote education for better health outcomes. KEYWORDS Down syndrome, disability, intellectual, ADLs, Knowledge, Management.

Supporting changes in awareness of a father with an asperger’s syndrome child

Supporting changes in awareness of a father with an asperger’s syndrome child

Role of folate metabolizing genes and homocysteine in mothers of Down syndrome children.

Folates are essential nutrients required for the synthesis of DNA/RNA in cell division and segregation. Folates are reduced and methylated in the liver with the help of enzymes such as methylenetetrahydrofolate reductase (MTHFR), MTR MTRR, reduced folate carrier 1, and cystathionine-β-synthase. Variants in the genes encoding these enzymes may lead to hypomethylation, resulting in nondisjunction which in turn increases the risk for Down syndrome (DS). The present study was conducted to genotype these genes and to see their association with homocysteine levels. A total of 213 mothers having DS children and 220 mothers having normal children were enrolled in the study. Genomic DNA was isolated from lymphocytes followed by polymerase chain reaction/Restriction Fragment Length Polymorphism for genotyping. Homocysteine levels were checked by chemoassay utilizing coumarin-based fluorescent probe. Genotypic frequency of MTHFR 1298 A > C polymorphism was significantly different among cases and controls (χ 2 = 5.83, P = 0.01), presence of C instead of A allele provided protection against DS in mothers (odds ratios = 0.57, 95% confidence interval = 0.35-0.91, P = 0.01). Higher levels of homocysteine were independently associated with the risk of having DS child (P = 0.0001). Homocysteine acted as an independent risk factor in the present study and was not associated with folate metabolizing gene variants.

Nutritional Assessment of Down Syndrome Children and Nutritional Awareness of their Caregivers in Delta Region, Egypt

Nutritional Assessment of Down Syndrome Children and Nutritional Awareness of their Caregivers in Delta Region, Egypt

Comparison of nutritional status of HIV positive children with homecare and institutional care/ orphanage - An eye opener cross sectional study.

ABSTRACTBackground:Nutrition has an important bearing on the health of Human immunodeficiency virus (HIV) positive children. Ascertaining the nutritional demands correctly and provisioning the nutritional needs to HIV positive/ Acquired Immunodeficiency syndrome (AIDS) children will go a long way in maximizing the therapeutic benefits reaped through ever improving pharmaceutical initiatives, and thus, contribute to prolonging the longevity of these children who have a whole life ahead of them.Objectives:To study the nutritional status, including dietary assessment and anemia status of HIV-positive children, and compare the outcomes among children under homecare (staying with families) and orphanages/institutional care.Methodology:A cross sectional study was carried out among children between 2 and 15 years who were attending Pediatric Outpatient department (OPD) of a tertiary care hospital in western Maharashtra. Data were collected from 106 children by the interviewer himself using pretested validated questionnaire along with anthropometric measures and relevant blood tests. A 24-h recall method was used to collect the dietary intake. Institutional ethical clearance was taken, and data were collected through informed consent of the parent/guardian accompanying the children.Results:Out of the 106 subjects studied, 54 (50.9%) were living in orphanages and 52 (49.1) were living with the family. Out of the 52 subjects of children under caregivers, 48.1% of the caregivers were unskilled workers and more than half of the subjects had a monthly family income of less than Rs 3,000. About 46.1% of the subjects’ caregivers were illiterate. In the orphanage, 28 (51.8%) were males and 26 (48.2%) were females; 52 (49.1%) children were living with family of whom 30 (57.7%) were males and 22 (42.3%) were females. The prevalence of anemia (86.5%) and undernutrition (61.1%) was more among those living with family compared to the orphans living in orphanages and the same was statistically significant (P < 0.05). Among the children living in orphanages, the mean intake for most of the nutrients was more across all age groups. Within homecare, the mean nutrient intake of the females for all nutrients was more than the males across all age groups except 3–9 years, where it was more in males. Overall, all the children received less of water-soluble vitamins compared to recommended daily allowances (RDA), and the children of age group 5–15 years received less vitamin A and iron also.Conclusion:Adequate nutrition, which is best achieved through the consumption of a balanced healthy diet, is vital for health and survival for all HIV-infected children. Specific measures to be directed to children under homecare and measures directed to improve social factors need to be undertaken.