Baby Syndrome Research Articles

MATERNAL AGE INCREASES THE RISK OF DOWN SYNDROME: A CASE-CONTROL STUDY IN YOGYAKARTA, INDONESIA

Background: Down syndrome incidence increases year to year and ranks first in birth defect cases in Indonesia. Down syndrome birth may burden family physically, socially, economically, and emotionally. The most common risk factor associated to Down syndrome is maternal age. Objective: This research is conducted to understand the association between maternal age and parity as the risk factors of Down syndrome births. Methods: Analytical observation design with case-control approach is used in this study. Bivariate and multivariate analysis were calculated using Chi-Square and binary logistic regression test. Results: This research’s results showed significant association between maternal age as risk factor with the incidence of Down syndrome (p-value < 0.001) and no significant association between parity with the incidence of Down syndrome (p-value > 0.05) in Yogyakarta, Indonesia. Mothers aged ? 35 years have 18.82 greater risk to give birth Down syndrome baby compared to mothers aged < 35 years (OR=18.82). The mean of maternal age when birth Down Syndrome children was 35.1 years old. Biological ovarium aging hypothesis presumed cause higher probability of chromosomal segregation failure during oocyte meiosis. Advanced maternal age naturally causes biological ovarium aging. Biological ovarium aging may caused or influenced by hormonal imbalance, limited oocyte pool, oxidative stress, change of spontaneous abortus mechanism, and genetic abnormality or mutation. No significant association between parity with the incidence of Down Syndrome (p-value=0.0689). Conclusion: Mothers with age of 35 year or older are the only the risk factor for having child with Syndrome Down in this research, with 18.82 more greater risk than mothers under 35 years old. The mean of maternal age when birth Down Syndrome children was 35.1 years old.

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.
 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.
 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.
 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.
 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.
 Key words: Down syndrome, Folic acid, Polymorphism, CBS, RFC1.

Pathological Analysis of down Syndrome and Its Nursing Care

Down Syndrome sounds like a rare case that can only be found in biology courses that are unrelated to normal peoples life. However, it occurs once every 1200 people according to CDC. Scientifically, Down syndrome is a genetic disease caused by trisomy 21 that cannot be cured by direct means of surgery or drugs. People must study the biochemical pathway Down Syndrome interferes with human body development, symptoms usually exhibit in patients, and Down Syndromes relationship with other diseases like Alzheimers in-depth and provide advanced detection for parents inclined to have Down Syndrome babies. Due to patients intellectual disability, someone must make important decisions for them so that they can receive needed treatments, Nursing patients with it not only requires extensive medical care but also patient emotional support. Well-trained nursing is required to protect this vulnerable group, not only to bring patients the chance to live a normal life but also to help their families avoid living in conflicts.

Hirschsprung's disease in a genetically diagnosed Cri-du-chat syndrome baby

Hirschsprung's disease (HSD) is a congenital disease characterized by the absence of ganglion cells in the myenteric and submucosal plexuses of the gastrointestinal tract. Many genetic causes of HSD have been investigated, although the most common and widely accepted is the RET gene located on chromosome 10q11.2. The presence of other coinciding genetic abnormalities with HSD, such as Cri-du-chat (CDC) syndrome, might provide a better understanding of the genetic bases of the disease. We present a case of a term baby boy who had features of Cri-du-chat syndrome at birth that were confirmed genetically. Later, the patient developed features of lower GI obstruction and was diagnosed with HSD by suction rectal biopsy. He underwent surgery and recovered well. We conclude that physicians involved in the care of babies with CDC and lower GI obstruction should consider the possibility of HSD and investigate accordingly. Additionally, when CDC and HSD coexist in a patient, the CDC genotype should be determined by whole exome sequencing and examined to identify mutations associated with HSD.

Container baby syndrome – has infant equipment overuse an impact on motor skill development?

ENWEndNote BIBJabRef, Mendeley RISPapers, Reference Manager, RefWorks, Zotero AMA Michalska A, Połatyńska K, Gładyś-Jakubczyk A, Kędzierski S, Pogorzelska J. Container baby syndrome – has infant equipment overuse an impact on motor skill development?. Pediatria Polska - Polish Journal of Paediatrics. 2023;98(1):66-69. doi:10.5114/polp.2023.126247. APA Michalska, A., Połatyńska, K., Gładyś-Jakubczyk, A., Kędzierski, S., & Pogorzelska, J. (2023). Container baby syndrome – has infant equipment overuse an impact on motor skill development?. Pediatria Polska - Polish Journal of Paediatrics, 98(1), 66-69. https://doi.org/10.5114/polp.2023.126247 Chicago Michalska, Agata, Katarzyna Połatyńska, Aleksandra Gładyś-Jakubczyk, Sebastian Kędzierski, and Justyna Pogorzelska. 2023. "Container baby syndrome – has infant equipment overuse an impact on motor skill development?". Pediatria Polska - Polish Journal of Paediatrics 98 (1): 66-69. doi:10.5114/polp.2023.126247. Harvard Michalska, A., Połatyńska, K., Gładyś-Jakubczyk, A., Kędzierski, S., and Pogorzelska, J. (2023). Container baby syndrome – has infant equipment overuse an impact on motor skill development?. Pediatria Polska - Polish Journal of Paediatrics, 98(1), pp.66-69. https://doi.org/10.5114/polp.2023.126247 MLA Michalska, Agata et al. "Container baby syndrome – has infant equipment overuse an impact on motor skill development?." Pediatria Polska - Polish Journal of Paediatrics, vol. 98, no. 1, 2023, pp. 66-69. doi:10.5114/polp.2023.126247. Vancouver Michalska A, Połatyńska K, Gładyś-Jakubczyk A, Kędzierski S, Pogorzelska J. Container baby syndrome – has infant equipment overuse an impact on motor skill development?. Pediatria Polska - Polish Journal of Paediatrics. 2023;98(1):66-69. doi:10.5114/polp.2023.126247.

Patterns Of Autoimmune Diseases Among Yemeni Children with Down Syndrome

Background: Down syndrome can be associated with autoimmune diseases such as Celiac disease, autoimmune Thyroiditis, Type 1 DM and other diseases. Aim: The aim of this study was to determine the prevalence of hypothyroidism, Type 1 DM, and Celiac disease in Yemeni children with Down syndrome as well as the most common mother's age for the occurrence of this syndrome. Method: This study was cross-sectional study involving one hundred and six Yemeni children with Down syndrome selected by simple random sampling from Special Needs Centers for Down syndrome in Sana'a city, Yemen, during 2019. These children were investigated for the presence of anti-thyroid peroxidase antibodies, TSH, and T4 for hypothyroidism; random blood sugar, anti-glutamic acid decarboxylase antibodies for Type 1 DM; and antitransglutaminase immunoglobulin A, and G antibodies for Celiac disease. Results: The prevalence of autoimmune diseases in the 106 Yemeni children with Down syndrome was 5.77% hypothyroidism, 2.8% Type 1 DM, and 0.94% Celiac disease. The highest number of Down syndrome babies were born at 41 to 50 years of mother's age. Conclusion: Hypothyroidism was the most prevalent autoimmune disease in Yemeni children with Down syndrome and Celiac disease was the least prevalent. Down syndrome can occur at any maternal age, but may increase with age. Children suffering from Down syndrome should be monitored periodically for autoimmune diseases to make early diagnosis, start early treatment, and decrease the occurrence of complications.

Paternal Age and its Relation with Congenital Cardiac Defects in Down’s Syndrome at Children Hospital & ICH, Lahore

Aim: To determine the frequency of Subtypes of Down’s syndrome and congenital cardiac defects in Down’s syndrome population and its association with parental age at Children Hospital, Lahore. Study Design: Cross sectional study Duration of Study: June 2016 to June 2017 at Genetics Deptt. Children Hospital, Lahore Methodology: A total of 160 patients were included after taking an informed consent. A detailed history and physical examination for Down’s syndrome was done. All the cases underwent karyotypic analysis for determination of the subtype of DS and echocardiography of all cases was done for CHD. Data was analyzed by SPSS 21. Results: Mostly mothers i.e. 56(35%) were in the age of 26–30 years and fathers 99 (69.1%) in age of 31–40 years when they conceived a Down’s syndrome baby. On karyotyping, the frequency of Trisomy 21 was highest in mothers in age group 02 and fathers in age group 03. PDA and VSD were common cardiac defects in Down’s syndrome cases. In mothers, mostly PDA and VSD was present in age group 02 and fathers in age group 03. Conclusion: Common type of Down’s syndrome was Trisomy 21. Most common CHD were PDA and VSD. Most of the Down’s syndrome babies were born to mothers in age group 25 to 30 years and fathers in age group 31 to 40 years. Keywords: Down’s syndrome, congenital cardiac defects, Trisomy 21

Elective freezing of embryos versus fresh embryo transfer in IVF: a multicentre randomized controlled trial in the UK (E-Freeze).

Elective freezing of embryos versus fresh embryo transfer in IVF: a multicentre randomized controlled trial in the UK (E-Freeze).

A Critical Discourse Analysis of “Discrimination Starts Before and Lasts Our Entire Lives” Speech by Charlotte Helene Fien: Discrimination Through Termination

Down syndrome people are often underestimated by society. It is because of their disability to do difficult things and their physical appearances. This common opinion has been broken by Charlotte Helene Fien, a representative of Down Syndrome people at the United Nations. This issue results in a social wrong which is covered by the society’s justification. This social wrong is indirectly depicted in Charlotte’s speech. The aim of this research is to uncover the social wrong that evolves in our society. The method used in this research is four stages by Roy Bhaskar (1986). SFG is utilized in this research to give linguistic evidence in interpreting the speech. The results show that social wrong found in the speech is termination of Down Syndrome babies. It is hard to be found because society is a lack of awareness about life values and it is considered as normal and true. However, this social wrong is still needed in the society because it gives benefits for parents and improves society’s standard of living. In order to stop this social wrong, society has to change their opinion, take real actions, and make policies to protect people with Down Syndrome.Keywords: Down Syndrome, social wrong, Systemic Functional Grammar, Charlotte

Birth defects in Brazil: Outcomes of a population-based study.

Birth defects (BDs) are functional and structural alterations in embryonic or fetal development. With an incidence of approximately 3-5%, BDs are a leading cause of infant mortality and lifelong disability. A population-based prospective case-control study was conducted for one year with 5204 infants, between March 1st, 2011 and February 29th, 2012 in the city of São José do Rio Preto, State of São Paulo, Brazil. The incidence of BDs was 3.2% [95% confidence interval (95%CI): 2.8-3.8%]. The most common congenital anomalies were heart diseases in isolation (11.2%; 95%CI: 7.3-16.9%) followed by Down syndrome (9.5%; 95%CI: 5.9-14.8%), neural tube defects (8.9%; 95%CI: 5.4-14.1), urinary tract anomalies (7.7%; 95%CI: 4.4-12.7%), and polydactyly (7.0%; 95%CI: 4.0-12.0%). The majority of mothers with Down syndrome babies had advanced age. Family members with the same BD, maternal alcohol consumption, gestational diabetes, and previous miscarriages were the most frequent risk factors. The results were similar to published data from other countries except for the incidence of Down syndrome, which was twice as high as reported by other authors and is probably due to the high sociocultural level of the region where the current study was performed, leading to pregnancies at older maternal age.

Effects of Massage Therapy on the Development of Babies Born with Down Syndrome.

Objective To determine the short-term effects of infant massage on the development of Down syndrome babies. Materials and Methods The study compared two groups (intervention and control), each with 16 babies with Down syndrome between 4 and 8 months old. The variables developmental age and developmental quotient were measured at two distinct time points, at pretest and after 5 weeks, using the Brunet-Lézine Early Childhood Psychomotor Development revised scale. This scale measures the variables of age and development quotient in a partial way (motor, visual-motor coordination, language, and social development) and in a global way. The experimental group received infant massage, applied by the parents, during these 5 weeks, every day for at least 10 minutes. The massage protocol was based on the methodology created by Vimala McClure. The control group received it after 5 weeks. Results All developmental variables were improved in the experimental group but not in the control group. There were significant differences in developmental age between the two groups, and this outcome was better in the experimental group (p < 0.001). The 2-by-2 mixed-model analysis of variance indicates a statistically significant group-by-time interaction for all development quotients, both partial and global (p < 0.001), which was significantly higher in the experimental group than in the control group. Conclusion Infant massage therapy improves the development of babies with Down syndrome in the short term.

The demographic data and the high frequency of chromosome/chromatid breaks as biomarkers for genome integrity have a role in predicting the susceptibility to have Down syndrome in a cohort of Egyptian young-aged mothers

BackgroundDown syndrome (DS) is a common numerical chromosome disorder that has its burden on both family and community. The well-known risk factor for chromosome 21 nondisjunction is advanced maternal age which failed to explain the occurrence of Down syndrome born to mothers less than 35 years. This study aimed to assess the effect of demographic data (consanguinity, residency area, and socioeconomic state) and chromosome/chromatid breaks as biomarkers for genome integrity on the susceptibility of young mothers to have a child with Down syndrome.ResultsFifty mothers with a history of at least one DS pregnancy before the age of 35 were compared to 50 control mothers. There was a significant increase in DS births in consanguineous parents (46%) compared to 20% in non-consanguineous ones (OR = 3.40; 95% CI = 1.4–8.20, P = 0.006). Young mothers with DS children were more likely to be from rural areas (60%) than urban areas (40%) (OR = 2.66; 95%, CI = 1.18–5.98, P = 0.017) and of a low socioeconomic status (62%) rather than a high socioeconomic status (38%) (OR = 3.80; 95%, CI = 1.65–8.74, P = 0.001).Chromosome/chromatid breaks were detected in 76% of DS young mothers and 32% of control mothers (P < 0.001). There was an odds ratio of chromatid breaks of 8.50 (3.411–21.17) and chromosome breaks of 3.93 (1.40–11.05) with significant difference between the studied groups (P < 0.001 and P = 0.009 respectively).ConclusionIn addition to advanced maternal age, consanguinity, residency in rural areas, and low socioeconomic status could be considered as possible risk factors for Down syndrome. The high frequency of chromosome/chromatid breaks in young mothers with a previous history of DS children highlights the impact of genome integrity on the tendency to chromosome 21 nondisjunction. These findings are valuable in predicting having a Down syndrome baby and providing proper genetic counseling for high-risk families.

Etiological factors, clinical profile and outcome of meconium aspiration syndrome babies

Background: Meconium staining of amniotic fluid has for long been considered to be a bad predictor of the fetal outcome because of its direct correlation of fetal distress, and increased the likelihood of inhalation of meconium, resultant deleterious effects on the neonatal lung. To evaluate etiological factors and severity of MAS in the study group.Methods: This study was done in the Neonatal intensive care unit of the Department of Paediatrics, Government Mohan Kumaramangalam Medical College Hospital Salem, Tamil Nadu, India in the year 2018. Complete maternal and neonatal details were recorded in to the proforma. Delivery details, resuscitation did were also recorded.Results: In present study, fetal distress was found to be the most common (42.5%) factor associated with MAS followed by PIH (21.6%) and PROM (17%). 22 (9.1%) cases were associated with Postdatism, 18 (7.5%) cases were associated with placental insufficiency. 88 babies had fetal distress (36.6%) prior to delivery. 138 babies had no fetal distress (57.5%).Conclusions: MAS is known to cause severe respiratory distress and Downe’s score ranging between 4-8, usually a few hours after the onset of respiratory distress. Nearly 73.3% of the cases with MAS had birth asphyxia, out of which 30% had severe birth asphyxia. This indicates that passage of meconium can occur in utero, often considered a feature of the stressed fetus. Undoubtedly aspiration had occurred before delivery in these babies.

Implications of Zika virus and congenital Zika syndrome for the number of live births in Brazil

An increase in microcephaly, associated with an epidemic of Zika virus (ZIKV) in Brazil, prompted the World Health Organization to declare a Public Health Emergency of International Concern in February 2016. While knowledge on biological and epidemiological aspects of ZIKV has advanced, demographic impacts remain poorly understood. This study uses time-series analysis to assess the impact of ZIKV on births. Data on births, fetal deaths, and hospitalizations due to abortion complications for Brazilian states, from 2010 to 2016, were used. Forecasts for September 2015 to December 2016 showed that 119,095 fewer births than expected were observed, particularly after April 2016 (a reduction significant at 0.05), demonstrating a link between publicity associated with the ZIKV epidemic and the decline in births. No significant changes were observed in fetal death rates. Although no significant increases in hospitalizations were forecasted, after the ZIKV outbreak hospitalizations happened earlier in the gestational period in most states. We argue that postponement of pregnancy and an increase in abortions may have contributed to the decline in births. Also, it is likely that an increase in safe abortions happened, albeit selective by socioeconomic status. Thus, the ZIKV epidemic resulted in a generation of congenital Zika syndrome (CZS) babies that reflect and exacerbate regional and social inequalities. Since ZIKV transmission has declined, it is unlikely that reductions in births will continue. However, the possibility of a new epidemic is real. There is a need to address gaps in reproductive health and rights, and to understand CZS risk to better inform conception decisions.

PSYCHE STRUCTURE ANALYSIS OF THE MAIN CHARACTER IN THE MOVIE “SOMETHING THE LORD MADE” BASED ON SIGMUND FREUD THEORY

Psychology takes the important role in literature, because the composition of literary work in its story could not beapart from the psychological aspect. Psyche structure is one of the way to analyze the character. The writers applied personality theory from Sigmund Freud that consists of three structures namely the Id, Ego and Superego, These three parts work together to create a complete personality to analyze the main character in “something the lord made” movie that was released in 2004. This movie tells about first doctor who handle “baby syndrome” case. The aim of the research is to find out the psyche structure of Vivian by using theory of Sigmund Freud. The data was obtained from two sources that are primary data which is taken from the movie script directly and secondary dara which is taken from books and journals that supported this research. It was conduct by using qualitative research. Based on the data analysis, the writers found that there was 11 data which related to psyche structure of Vivian Thomas. The analysis of research result shows that psyche structure is used in Something the Lord Made movie.

Telomere length analysis in Down syndrome birth

Human reproductive fitness depends upon telomere chemistry. Maternal age, meiotic nondisjunction error and telomere length of mother of trisomic child are someway associated. Reports exhibiting maternal inheritance of telomere length in Down syndrome child are very scanty. To investigate this, we collected peripheral blood from 170 mothers of Down syndrome child and 186 age matched mothers of euploid child with their newly born babies. Telomere length was measured by restriction digestion – southern blotting technique. Meiotic nondisjunction error was detected by STR genotyping. Subjects are classified by age (old >35 years and young ˂35 years) and by meiotic error (MI and MII). Linear regression was run to explore the age – telomere length relationship in each maternal groups. The study reveals that with age, telomere erodes in length. Old MII mothers carry the shortest (p˂0.001), control mothers have the longest telomere and MI lies in between. Babies from older mother have longer telomere (p˂0.001) moreover; telomeres are longer in Down syndrome babies than control babies (p˂0.001). To conclude, this study represents not only the relation between maternal aging and telomere length but also explore the maternal heritability of telomere length in families with Down syndrome child.

It’s a Boy: Ethical Implications of the First Spindle Nuclear Transfer Birth

It’s a Boy: Ethical Implications of the First Spindle Nuclear Transfer Birth

Simultaneous Transcatheter Device Closure of ASD, VSD and PDA in an Infant with Down Syndrome

Incidence of congenital heart defects in Down syndrome varies from 40% to 60%. Atrioventricular septal defect is most common defect seen, followed by isolated Ventricular Septal Defect (VSD). Multiple defects can be found in 5% to 10% of Down syndrome babies. Such patient usually presents with Pulmonary Hypertension (PAH) early in life and can develop rapid progression. An infant with Down syndrome weighing 6.5 kg presented with recurrent lower respiratory tract infections. A Transthoracic echocardiogram showed 10 mm secundum Atrial Septal Defect (ASD), 5 mm peri membranous Ventricular Septal Defect (VSD) and 3.5 mm conical shaped Patent Ductus Arteriosus (PDA) with Pulmonary Arterial Hypertension (PAH). As all the defects were suitable for transcatheter closure, patient underwent successful device closure of VSD by 6/4 mm Amplatzer duct occluder II (ADO II) device, PDA closure by 6/4 mm Amplatzer duct occluder (ADO) device and ASD closure by 12 mm Amplatzer septal occluder device. PA pressures of patient reduced significantly after the procedure and possible post-operative morbidity was avoided by transcatheter intervention.

Communication skills of residents to families with Down syndrome babies.

Generally, pediatricians are the first health caregivers to deliver initial diagnosis of Down syndrome (DS) to the families. However, most of the parents are not satisfied with the contents and how they receive information when their child is born with DS. Pediatric residents should target educational interventions to help parents to overcome with these issues and to provide accurate information. The objective is to assess comfort levels and training requirements of pediatric residents to communicate with parents of babies born with Down syndrome. Diagnostic Situations Inventory (DSI) is a rating scale which included ten questions to assess discomfort level. A survey was sent via mobile, websites and all the social media which were available to all pediatrics residents in the country. Socio-demographic factors including information about training requirement were collected as well. From the 326 participants, total mean discomfort level was 30.22 in DSI out of 50 which was the highest score. Discomfort level was significantly increased in female participants (p= 0.033). Being female (p= 0.014), having less residency level (p= 0.028), examining less number of patients with Down syndrome (p= 0.025) and having higher discomfort levels (p= 0.001) were found to be related with increased training requirement. From the residents, 84% declared the need for additional training. This study showed that pediatric residents had a high level of discomfort when communicating with parentes of newborn with Down Syndrome. Female residentes had a discomfort level significantly higher than male residentes.

An Overview of Prenatal Screening/Diagnosis Programs for Down Syndrome in Turkey

The aim of this paper is to demonstrate the prenatal screening variables and risk factors of pregnancies with Down syndrome (DS) babies, and to explicate invasive prenatal testing strategies.This s...