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117 Down Syndrome Essay Topic Ideas & Examples

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Down syndrome is a genetic disorder that affects approximately 1 in every 700 babies born in the United States. Individuals with Down syndrome have an extra copy of chromosome 21, which can lead to a variety of physical and cognitive challenges. Despite these challenges, people with Down syndrome are capable of leading fulfilling lives and contributing positively to society.

If you are tasked with writing an essay on Down syndrome, it may be helpful to have a list of potential topics to choose from. To help you get started, here are 117 Down syndrome essay topic ideas and examples:

• The history of Down syndrome research and treatment
• The causes and risk factors of Down syndrome
• The prevalence of Down syndrome in different populations
• The physical characteristics and health issues associated with Down syndrome
• The cognitive abilities and intellectual development of individuals with Down syndrome
• The social and emotional development of individuals with Down syndrome
• The educational strategies and interventions used to support individuals with Down syndrome
• The role of early intervention programs in improving outcomes for children with Down syndrome
• The challenges and opportunities faced by adults with Down syndrome in the workforce
• The impact of Down syndrome on family dynamics and relationships
• The ethical considerations of prenatal testing for Down syndrome
• The portrayal of Down syndrome in the media and popular culture
• The rights and advocacy efforts of individuals with Down syndrome
• The experiences of individuals with Down syndrome in the healthcare system
• The benefits of inclusive education for students with Down syndrome
• The potential for gene therapy and other emerging treatments for Down syndrome
• The intersectionality of Down syndrome with other disabilities and identities
• The role of genetics and epigenetics in understanding Down syndrome
• The impact of Down syndrome on mental health and well-being
• The challenges and successes of individuals with Down syndrome in sports and athletics
• The experiences of individuals with Down syndrome in the criminal justice system
• The impact of COVID-19 on individuals with Down syndrome and their families
• The role of technology in supporting individuals with Down syndrome
• The experiences of siblings of individuals with Down syndrome
• The impact of Down syndrome on romantic relationships and family planning
• The representation of Down syndrome in literature and art
• The role of advocacy organizations in promoting awareness and acceptance of Down syndrome
• The experiences of individuals with Down syndrome in higher education
• The impact of poverty and socioeconomic status on individuals with Down syndrome
• The cultural and religious beliefs surrounding Down syndrome in different communities
• The experiences of individuals with Down syndrome in residential care facilities
• The impact of stigma and discrimination on individuals with Down syndrome
• The experiences of individuals with Down syndrome in the foster care system
• The impact of trauma and adverse childhood experiences on individuals with Down syndrome
• The experiences of individuals with Down syndrome in the military
• The impact of environmental factors on the development of Down syndrome
• The experiences of individuals with Down syndrome in the LGBTQ+ community
• The impact of Down syndrome on romantic relationships and sexual health
• The experiences of individuals with Down syndrome in the performing arts
• The impact of Down syndrome on communication and language development
• The impact of Down syndrome on sensory processing and sensory integration
• The experiences of individuals with Down syndrome in the foster care system 64

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65 Down Syndrome Research Topics & Essay Examples

📝 down syndrome research papers examples, 🏆 best down syndrome essay titles, 🎓 simple research topics about down syndrome, ❓ down syndrome research questions.

• Down Syndrome General Analysis This case-report will focus on the role of the aforementioned factors in the current status of Down syndrome, followed by the possible laboratory testing of the disease.
• Down Syndrome: History and Treatment Down syndrome remains one of the most commonly diagnosed genetic diseases in modern practice. One of the lifelong chronic intellectual disabilities, Down syndrome, develops due to genetic modification.
• Down’s Syndrome: Review Downs syndrome is a developmental condition that is also known as trisomy 21. This condition is characterized by additional genetic material that leads to delayed child development.
• Researching the Down Syndrome Down syndrome is a chromosomal defect that occurs early in conception in which babies are born with an extra chromosome
• The Causes, Symptoms, Diagnosis, and Management of Down Syndrome
• Problems Associated With Children With Down Syndrome
• The Physical and Mental Characteristics of Children with Down Syndrome, Increased Risk Factors, and the Need for Medical Care and Stimulating Environments
• Evolution of Neuroinflammation Across the Lifespan of Individuals With Down Syndrome
• Corrigendum: Pioglitazone Improves Mitochondrial Organization and Bioenergetics in Down Syndrome Cells
• The Characteristics and Issue of Down Syndrome
• The Negative and Positive Influence of the Media on People with Down Syndrome
• Analysis of Complementary Medicine Use by Parents for Children With Down Syndrome
• The Effects Down syndrome has on Motor Skills
• Parents and Children with Birth Defects: Down Syndrome
• Microstate Changes Associated With Alzheimer’s Disease in Persons With Down Syndrome
• Psychological Support for Young Adults with Down Syndrome: Dohsa-Hou Program for Maladaptive Behaviors and Internalizing Problems
• Improving Working Memory Abilities in Individuals With Down Syndrome
• Benefits and Harms of Mammography Screening for Women With Down Syndrome
• Validating the Cognitive Scale for Down Syndrome (CS-DS) to Detect Longitudinal Cognitive Decline in Adults With Down Syndrome
• Psychological And Physical Characteristics Of Down Syndrome
• The Prevalence, Causes and Impact of the Down Syndrome in the United States
• The Causes, Effects, and Awareness Regarding Down Syndrome
• Oral Care For Autistic And Down Syndrome Patients
• New Approaches to Studying Early Brain Development in Down Syndrome
• Down Syndrome and the Formation Of Reproductive Cells
• Learning Styles For Children With Down Syndrome
• Genetics and Evolution: Cystic Fibrosis and Down Syndrome
• Reliability of Informant-Report Measures of Executive Functioning in Children With Down Syndrome
• Sign Language with Toddlers with Down Syndrome
• Parent‐Mediated Interventions for Promoting Communication and Language Development in Young Children With Down Syndrome
• Neuro-Ophthalmological Manifestations in Children with Down Syndrome: Current Perspectives
• The Causes and Physical and Mental Effects of Down Syndrome
• Dance Therapy for Down Syndrome Effects and Improvements
• Psychometric Properties and Predictive Value of a Screening Questionnaire for Obstructive Sleep Apnea in Young Children With Down Syndrome
• Field Experience Report and Reflection: Special Education Throughout this field experience, the author has learned more about the current practical approaches to education for children with special needs.
• Pioglitazone Improves Mitochondrial Organization and Bioenergetics in Down Syndrome Cells
• Comparing the Differences Between Down Syndrome and Autism
• Metabolic and Vascular Imaging Biomarkers in Down Syndrome
• The Amniocentesis and the Abnormalities for the Down Syndrome
• Autism, Down Syndrome and Equal Rights: A Look at the Past and Present of Diverse Populations and Sport
• Rodent Models in Down Syndrome Research: Impact and Future Opportunities
• Cognitive Skills, Behavior and Learning Potential of Preschool Children with Down Syndrome
• The Speech and Language Deficits of Children With Down Syndrome
• Development and Learning For People WIth Down Syndrome
• The Social Issues, Educational Importance, Historical Research, and Current Trends of Teaching Students with Down Syndrome
• Does Tonsillectomy Increase Obesity Risk in Children With Down Syndrome?
• How Many Babies Are Born With Down Syndrome?
• What Is the Cause of Down Syndrome?
• What Is the Population of People With Down Syndrome?
• What Should You Know About People With Down Syndrome in the U.S.?
• How Do Medical Issues and Care Affect People With Down Syndrome?
• How Will a Baby With Down Syndrome Affect Family?
• What Is the Future for a Person With Down Syndrome in the U.S.?
• Is There a Cure for Down Syndrome?
• How Can Parents and Providers Help Teens and Young Adults With Down Syndrome Transition Into Adulthood?
• What Are the Health Issues for Adults With Down Syndrome?
• How Does Down Syndrome Affect Your Health?
• How Does Mosaicism Happen in Down Syndrome?
• When Was Down Syndrome Discovered?
• What Is the Likelihood of Having a Child With Down Syndrome?
• What Impact Does Down Syndrome Have on Society?
• What Are Levels or Degrees of Down Syndrome?
• Do People With Down Syndrome All Look Alike?
• Can People With Down Syndrome Live Independently?
• How Long Are People With Down Syndrome Expected to Live?

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Research Topics About Down Syndrome

• Down Syndrome: Causes and Signs of Living with It
• Correction: Pioglitazone Enhances Bioenergetics and Mitochondrial Organization in Down Syndrome Cells
• Down Syndrome Patients’ Microstate Changes Linked to Alzheimer’s Disease
• Down Syndrome’s Low-Resolution Place and Response Learning Capacities
• Cystic Fibrosis and Down Syndrome in Genetics and Evolution
• Down Syndrome-Related Speech and Language Impairments in Children
• Including Students with Down Syndrome in Classrooms
• Down Syndrome and Spina Bifida – Cause, Effects, and Treatment 8. Autism, Down Syndrome, and Equal Rights: A Look at the Past and Present of Diverse Populations and Sport
• The Benefits of Inclusive Education and Down Syndrome
• Semantic Verbal Fluency Pattern, Dementia Rating Scores, and Adaptive Behaviour Correlate with Plasma A 42 Concentrations in Down Syndrome Young Adults.
• Response Inhibition and Interference Suppression in Down Syndrome Individuals Compared to Typically Developing Children.
• Down Syndrome and Music Therapy
• Between “Desperation” and Disability Rights: Examining Alternative Treatment for Down Syndrome Children
• Down Syndrome Is An Example of A Chromosomal Anomaly
• Diabetes, Health Conditions, and Down Syndrome
• Issues Concerning Kids with Down Syndrome
• Down Syndrome’s Physical and Psychological Traits
• The Most Successful Down Syndrome Individuals
• Down Syndrome Affects Physical Development and Facial Features

Down Syndrome Essay Titles

• Preschool Children with Down Syndrome: Cognitive Skills, Behavior, and Learning Potential
• The Down Syndrome: Its Causes, Symptoms, Diagnosis, and Management
• Down Syndrome in Children: A Developmental Disorder
• The Development of Reproductive Cells and Down Syndrome
• How Down Syndrome Kids Interact with Their Relatives and Peers
• Down Syndrome’s Causes and Developmental Course
• The Effects of Dance Therapy for Down Syndrome and Improvements
• How Down Syndrome-Affected Children Behave in the Classroom, How Well They Speak English, and How Mainstream Peers View them
• Learning Styles for Down Syndrome Kids
• The Impact of the Media on People with Down Syndrome, Both Positive and Negative
• Down Syndrome Is A Congenital Disability that Affects Both Parents and Kids.
• Down Syndrome in Children with Intellectual Disabilities
• Causes, Symptoms, Diagnosis, & Treatment of Down Syndrome
• Learning and Development for Individuals with Down Syndrome
• Down Syndrome-Related Physical and Mental Characteristics, Increased Risk Factors, and the Need for Care and Stimulating Environments
• Congenital Heart Defects with Maternal Line-1 DNA Methylation in Down Syndrome
• Down Syndrome and Mild Intellectual Disability: A Health Case Study
• Down Syndrome and Alzheimer’s Disease: A Comparison of Blood Beta-Amyloid and Tau Levels
• Treatment Case Study: Improving Working Memory Capabilities in Down Syndrome Patients
• Down Syndrome and Allocentric Spatial Learning and Memory Deficits
• Why Does Down Syndrome Occur?
• Why Do Down Syndrome Patients See A Family Doctor?
• How Does Having Down Syndrome Affect the Person?
• How Can People with Down Syndrome Achieve Prosperity?
• How Do People with Down Syndrome Interpret Expressions on Faces and Words?
• Which Gender Has A Higher Chance of Having Down Syndrome?
• What Factors Contribute to Down Syndrome?
• Can A Girl with Down Syndrome Have A Baby?
• What Are the Five Characteristics of Down Syndrome Characteristics?
• How Long Will Someone with Down Syndrome Live?
• Is Down Syndrome Curable?
• What Are the Three Down Syndrome Subtypes?
• How Can Down Syndrome Be Prevented During Pregnancy?
• Are People with Down Syndrome Intelligent?
• What Follows A Positive Down Syndrome Test?
• Is Down Syndrome A Hereditary Condition?
• Is Down Syndrome A Form of Autism?
• Is Down Syndrome A Result of Stress?
• Can A Baby with Down Syndrome Be Born to Two Normal Parents?
• Is Down Syndrome Considered A Disability?
• Which Organ Is Down Syndrome Most Likely to Affect?
• Does A Mother’s Age Impact the Down Syndrome She Has?
• Can An Ultrasound Detect Down Syndrome in A New-Born?
• What Causes the Most Deaths in People with Down Syndrome?
• Can A Person with Down Syndrome Drive?
• Who Is the Oldest Down Syndrome Sufferer?
• What Down Syndrome Pregnancy Symptoms Are There?
• Is Down Syndrome Curable While A Woman Is Pregnant?
• What Race Has the Highest Rate of Down Syndrome?
• Which Week of Pregnancy Is Down Syndrome Most Common?

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Down Syndrome: Current Status, Challenges and Future Perspectives

Mohammad kazemi.

1 Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.

2 Medical Genetic Center of Genome, Isfahan, Iran.

3 Pediatric Inherited Diseases Research Center, Research Institute for Primordial Prevention of Non-communicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran.

Mansoor Salehi

Majid kheirollahi.

Down syndrome (DS) is a birth defect with huge medical and social costs, caused by trisomy of whole or part of chromosome 21. It is the most prevalent genetic disease worldwide and the common genetic cause of intellectual disabilities appearing in about 1 in 400-1500 newborns. Although the syndrome had been described thousands of years before, it was named after John Langdon Down who described its clinical description in 1866. Scientists have identified candidate genes that are involved in the formation of specific DS features. These advances in turn may help to develop targeted therapy for persons with trisomy 21. Screening for DS is an important part of routine prenatal care. Until recently, noninvasive screening for aneuploidy depends on the measurement of maternal serum analytes and ultrasonography. More recent progress has resulted in the development of noninvasive prenatal screening (NIPS) test using cell-free fetal DNA sequences isolated from a maternal blood sample. A review on those achievements is discussed.

Down syndrome (DS) is the most frequently occurring chromosomal abnormality in humans and affecting between 1 in 400-1500 babies born in different populations, depending on maternal age, and prenatal screening schedules ( 1 - 6 ). DS is the common genetic cause of intellectual disabilities worldwide and large numbers of patients throughout the world encounter various additional health issues, including heart defects, hematopoietic disorders and early-onset Alzheimer disease ( 7 - 9 ). The syndrome is due to trisomy of the whole or part of chromosome 21 in all or some cells of the body and the subsequent increase in expression due to gene dosage of the trisomic genes ( 10 ). It is coupled with mental retardation, congenital heart defects, gastrointestinal anomalies, weak neuromuscular tone, dysmorphic features of the head, neck and airways, audiovestibular and visual impairment, characteristic facial and physical features, hematopoietic disorders and a higher incidence of other medical disorders. The incidence of births of children with DS increases with the age of the mother. However, due to higher fertility rates in younger women, the probability of having a child with DS increases with the age of the mother and more than 80% of children with DS are born to women under 35 years of age ( 7 , 11 ).

Historical background

Approximately 2500 years ago, Bernal and Briceno thought that certain sculptures represented individuals with trisomy 21, making these potteries the first empirical indication for the existence of the disease ( Figure 1 ). Martinez-Frias identified the syndrome in 500 patients with Alzheimer disease in which the facial features of trisomy 21 are clearly displayed. Different scientists described evident illustration of the syndrome in 15 th and 16 th century paintings. Esquirol wrote phenotypic description of trisomy 21 in 1838. English physician, John Langdon Down explained the phenotype of children with common features noticeable from other children with mental retardation. He referred them “Mongoloids” because these children looked like people from Mongolia ( 12 - 15 ).

Down syndrome statue representing individual with trisomy 21 related to almost 2500 years ago (16)

This disease was named “Down Syndrome” in honor of John Langdon Down, the doctor who first recognized the syndrome in 1866 but until the middle of the 20 th century, the cause of DS remained unknown. The probability that trisomy 21 might be a result of a chromosomal abnormality was suggested in 1932 by Waardenburg and Davenport ( 12 , 17 ). A revolution finally took place in 1956, when Joe Hin Tjio and Albert Levan described a set of experimental situations that allowed them to precisely characterize the number of human chromosomes as 46. During the three years of the publication of this revolutionary work, Jerome Lejeune in France and Patricia Jacobs in the United States were able to identify an extra copy of chromosome 21 in karyotypes prepared from DS patients. Then, in the 1959, researchers finally determined that presence of an additional copy of chromosome 21 (referred to trisomy 21) is the cause of DS ( 1 , 18 ).

Genetic basis

Chromosome 21 is the smallest human autosome with 48 million nucleotides and depicts almost 1–1.5% of the human genome. The length of 21q is 33.5 Mb and 21 p is 5–15 Mb. More than 400 genes are estimated to be on chromosome 21 ( Table 1 ). Chromosome 21 has 40.06% repeat content comprising short interspersed repeatitive elements (SINEs), long interspersed repeatitive elements (LINEs), and long terminal repeats (LTRs) ( 3 , 11 , 19 ). The most acceptable theory for the pathogenesis of trisomy 21 is the gene-dosage hypothesis, which declares that all changes are due to the presence of an extra copy of chromosome 21 ( 12 ). Although it is difficult to select candidate genes for these phenotypes, data from transgenic mice suggest that only some genes on chromosome 21 may be involved in the phenotypes of DS and some gene products may be more sensitive to gene dosage imbalance than others. These gene products include morphogens, cell adhesion molecules, components of multi-subunit proteins, ligands and their receptors, transcription regulators and transporters. A “critical region” within 21q22 was thought to be responsible for several DS phenotypes including craniofacial abnormalities, congenital heart defects, clinodactyly of the fifth finger, mental retardation and several other features ( 3 , 11 ).

Candidate dosage sensitive genes on chromosome 21causing DS phenotype ( 11 , 23 , 24 )

DS is usually caused by an error in cell division named "nondisjunction" that leads to an embryo with three copies of chromosome 21. This type of DS is called trisomy 21 and accepted to be the major cause of DS, accounting for about 95% of cases ( 20 , 21 ). Since the late 1950s, scientists have also determined that a smaller number of DS cases (nearly 3-4%) are caused by chromosomal translocations. Because the translocations responsible for DS can be inherited, this form of the disease is sometimes named as familial DS. In these cases, a segment of chromosome 21 is transferred to another chromosome, usually chromosome 14 or 15. When the translocated chromosome with the extra piece of chromosome 21 is inherited together with two common copies of chromosome 21, DS will occur. For couples who have had one child with DS due to translocation trisomy 21, there may be an increased likelihood of DS in future pregnancies. This is because one of the parents may be a balanced carrier of the translocation. The chance of passing the translocation depends on the sex of the parent who carries the rearranged chromosome 21. If the father is the carrier, the risk is around 3 percent, while with the mother as the carrier, the risk is about 12 percent. This difference is due to the fact that it seems to be a selection against chromosomal abnormalities in sperm production which means men would produce fewer sperm with the wrong amount of DNA. Translocation and gonadal mosaicism are types of DS known to have a hereditary component and one third of them (or 1% of all cases of DS) are hereditary ( 1 , 22 ). The third form of disease named mosaicism, is a rare form (less than 2% of cases) of DS. While similar to simple trisomy 21, the difference is that the third copy of chromosome 21 is present in some, but not all cells. This type of DS is caused by abnormal cell division after fertilization. In cellular mosaicism, the mixture can be seen in different cells of the similar type; while with mosaicism, one set of cells may have normal chromosomes and another type may have trisomy 21 ( 1 , 22 )

Screening methods

Screening for DS is an important part of routine prenatal care. The most common screening method contains the measurement of a combination of factors: advanced maternal age, multiple second trimester serum markers, and second trimester ultrasonography ( Table 2 ) ( 25 - 26 ).

Detection rates and false positive rates of different Down syndrome screening tests ( 43 , 44 )

DR: detection rate; FPR: false-positive rate; NT: nuchal translucency; PAPP-A: pregnancy-associated plasma protein- A; β-hCG: chorionic gonadotropin; AFP: alpha-fetoprotein

The first method available for aneuploidy screening was maternal age. Advanced maternal age predisposes to DS and other fetal chromosomal abnormalities based on nondisjunction. In fact, the advanced maternal age was defined as age 35 years or older at delivery, because her risk of having a fetus with aneuploidy was equivalent to or more than the estimated risk for pregnancy loss caused by an amniocentesis. The extra chromosome 21 is the result of nondisjunction throughout meiosis in the egg or the sperm (standard trisomy 21) in almost 95% of individuals ( 27 - 29 ).

Trisomy 21 is coupled with a propensity for brachycephaly, duodenal atresia, cardiac defects, mild ventriculomegaly, nasal hypoplasia, echogenic bowel, mild hydronephrosis, shortening of the femur and sandal gap and clinodactyly or middle phalanx hypoplasia of the fifth finger. The first reported marker associated with DS was the thickening of the neck area ( 30 , 31 ). 40-50 percent of affected fetuses have a thickened nuchal fold measuring ≥ 6 mm in the second-trimester ( 32 , 33 ). After using of screening by nuchal translucency (NT), about 83% of trisomy 21 pregnancies were identified in the first trimester. Later, it was revealed that screening by a combination of maternal age, NT and bi-test [pregnancy-associated plasma protein (PAPP-A) with second trimester free β chorionic gonadotropin (β-hCG)] or tri-test [alpha-fetoprotein (AFP), estriol and free β-hCG] has a potential sensitivity of 94% for a 5% false-positive rate ( 34 - 36 ).

NT is a physiological process ‘marker’ in the fetus that reflects the fetal lymphatic and vascular development in the head and neck area. NT measurement was primarily used as a stand-alone test for aneuploidy screening. Later, maternal age was added, and finally, NT became part of a combined first trimester aneuploidy screening test (NT, maternal age and the maternal serum markers, PAPP-A and β-hCG) ( 35 ).

Pyelectasis which refers to a diameter of the renal pelvis measuring ≥ 4 mm, is another second trimester marker; in fact, renal dilatation has a higher occurrence among fetuses with DS. However, pyelectasis remains a minor marker as the sensitivity is about 17%-25%, with a false-positive rate of 2%-3% ( 37 ).

Another important soft marker that has been effectively combined into fetal abnormality screening is the nasal bone. The absence of nasal bone in fetus at the 11-14 weeks scan is related to DS. This marker, initially, was found in 73% of trisomy 21 fetuses and in only 0.5% of chromosomally normal fetuses ( 38 , 39 ) and, subsequently, it was estimated that the combination of maternal age, NT, maternal serum biochemical screening (by bi- test or tri- test) and examination of nasal bone could increase the detection rate to 97% ( 40 ). After the completion of further confirmation studies, it is generally accepted that fetal nasal bone is a worthy sonographic marker, even if there are racial differences in the length of this bone ( 41 - 42 ).

Noninvasive prenatal screening (NIPS)

One of the major innovations in obstetrical care was the introduction of prenatal genetic diagnosis, primarily by amniocentesis in the second trimester of pregnancy. Later, chorionic villus sampling during the first trimester allowed for earlier diagnosis. However, the potential risk of fetal loss due to an invasive procedure has urged the search for noninvasive approaches for genetic screening and diagnosis ( 45 ). More recent advances in genomics and related technologies have resulted in the development of a noninvasive prenatal screening (NIPS) test using cell-free fetal DNA sequences isolated from a maternal blood sample. Almost 4-10% of DNA in maternal serum is of fetal origin. Fetal trisomy detection by cfDNA from maternal blood has been done using massively parallel shotgun sequencing (MPSS). By next generation sequencing platforms, millions of amplified genetic fragments can be sequenced in parallel. MPSS detects higher relative amounts of DNA in maternal plasma from the fetal trisomic chromosome compared with reference chromo-somes. Platforms differ according to whether amplified regions throughout the genome, chromosome-specific regions, or single nucleotide polymorphisms (SNPs) are the targets for sequencing ( 1 , 45 , 46 ).

Another approach named digital analysis of selected regions (DANSR) selectively sequences loci only from target chromosomes by including a targeted amplification step. This method represents a considerable increase in sequencing efficiency. Recently, a new method has described selectively the sequences SNPs and ascertain copy number by comparing fetal to maternal SNP ratios between target and reference chromosomes. The use of SNPs may alleviate chromosome- to -chromosome amplification variability; however, the need for a reference chromosome partly negates this advantage ( 47 - 50 ).

Although studies are hopeful and exhibit high sensitivity and specificity with low false- positive rates, there are drawbacks to NIPS. Specificity and sensitivity are not consistent for all chromosomes; this is due to different content of cytosine and guanine nucleotide pairs. False- positive screening results take place and because the sequences derived from NIPS are derived from the placenta, like in chorionic villus sampling (CVS), they may not reflect the true fetal karyotype. Therefore, currently invasive testing is recommended for confirmation of a positive screening test and should remain an option for patients seeking a definitive diagnosis ( 35 , 45 , 51 ).

NIPS for fetal aneuploidy was presented into clinical practice in November 2011. Obstetricians have rapidly accepted this testing, and patients have welcomed this option due to its lack of fetal morbidity and mortality ( 52 ). At first, NIPS began as a screen for only trisomy 21 (T21) and was rapidly developed to include other common aneuploidies for chromosomes 13 (T13), 18 (T18), X, and Y ( 53 ).

Notwithstanding improvement in sensitivity, approaches using cfDNA are not diagnostic tests as false positive and false negative results are still generated, although at very low rates than the previous maternal screening tests. A significant source of a discrepant result comes from the fact that the fetal fraction of cfDNA originates pre-dominantly from apoptosis of the trophoblast layer of the chorionic villi and not the fetus. Thus, inva-sive diagnostic testing such as CVS or amnio-centesis, is recommended after a positive cfDNA fetal aneuploidy screening test. Because cfDNA testing is normally presented in the first trimester, CVS is often the choice invasive method applied. If mosaicism is recognized on CVS, confirmatory amniocentesis is recommended ( 54 - 56 ).

Although NIPS is not a diagnostic test, it offers a considerably developed screen for fetal aneuploidy compared to the earlier screening tests that depend on maternal serum markers ( Table3 ). Patients with positive screen results should take suitable genetic counseling to persuade that follow-up testing is necessary before making a decision as to whether or not to continue a pregnancy because of concern over a positive NIPS result. However, patients with negative test results need to know that there is still a chance that their fetus may have a chromosome abnormality due to a false negative result ( 52 ).

Detection rates and false positive rates of major aneuploidies using NIPT ( 51 , 57 , 58 )

CI: confidence interval.

Diagnostic methods

Amniocentesis is the most conventional invasive prenatal diagnostic method accepted in the world. Amniocenteses are mostly performed to acquire amniotic fluid for karyotyping from 15 weeks onwards. Amniocentesis performed before 15 weeks of pregnancy is referred to as early amniocentesis. CVS is usually performed between 11 and 13 (13+6) weeks of gestation and includes aspiration or biopsy of placental villi. Amniocentesis and CVS are quite reliable but increase the risk of miscarriage up to 0.5 to 1% compared with the background risk ( 59 - 60 ).

There is no medical cure for DS. However, children with DS would benefit from early medical support and developmental interventions initiation during childhood. Children with DS may benefit from speech therapy, physical therapy and work-related therapy. They may receive special education and assistance in school. Life expectancy for people with DS has improved noticeably in recent decades ( 61 ). Nowadays, cardiac surgery, vaccinations, antibiotics, thyroid hormones, leukemia therapies, and anticonvulsive drugs (e.g, vigabatrin) have significantly improved the quality of life of individuals with DS. Actually, life expectancy that was hardly 30 years in the 1960s is now increasing more than 60 years of age ( 3 , 62 - 63 ).

X inactivation is the mammalian dosage compensation mechanism that ensures that all cells in males and females have one active X chromoso-me (Xa) for a diploid set of autosomes. This is achieved by silencing one of the two X chromoso-mes in female cells. The X chromosome silencing is effected by Xist non-coding RNA and is associated with chromatin modification ( 64 ). Recently, resear-chers have applied this model of transcriptional silencing to the problem of additional gene expre-ssion in DS. In induced pluripotent stem (iPS) cells derived from a patient with DS, the researchers used zinc-finger nucleases to insert inducible X inactive specific transcript (non–protein-encoding) (XIST) into chromosome 21. The mechanism of transcriptional silencing due to the Xist transgene appears to involve covering chromosome 21 with Xist RNA that results in stable modification of heterochromatin. In the iPS cells, induction of the newly inserted transgene resulted in expression of XIST noncoding RNA that coated chromosome 21 and triggered chromosome inactivation ( 65 - 66 ).

In summary, DS is a birth defect with huge medical and social costs and at this time there is no medical cure for DS. So, it is necessary to screen all pregnant women for DS. NIPS for fetal aneuploidy which was presented into clinical practice since November 2011 has not been yet considered as diagnostic test as false positive and false negative test results are still generated. Thus, invasive diagnostic testing such as CVS or amniocentesis, is recommended after a positive cfDNA fetal aneuploidy screening test.

The described performance of screening for trisomy 21 by the cffDNA test, with a diagnostic rate of more than 99% and false positive rate less than 0.1%, is preferable to other screening methods. Despite the test is obtaining common acceptability, the high cost restricts its application to all patients, identified as such by another traditional first-line method of screening. In the screening with cffDNA testing, the nuchal scan is considered to be the most appropriate first-line method of screening.

Conflict of interest

The authors declared no conflict of interest.

Home — Essay Samples — Nursing & Health — Down Syndrome — The Causes and Physical and Mental Effects of Down Syndrome

The Causes and Physical and Mental Effects of Down Syndrome

• Categories: Down Syndrome

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Published: Sep 25, 2018

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Child with Downs Syndrome Life Story

This essay about the life story of a child with Down syndrome explores the challenges, triumphs, and profound lessons inherent in their experiences. It highlights the impact of a Down syndrome diagnosis on families, celebrating developmental milestones, and the importance of inclusive education and community involvement. Through the narrative, the essay emphasizes the capacity of these children to contribute meaningfully to society, challenging societal misconceptions about disability. It reflects on the deeper human values of patience, unconditional love, and resilience, taught by the lives of children with Down syndrome. The piece concludes by affirming the transformative power of these stories in changing perceptions and fostering a more inclusive world.

How it works

In the realm of human experience, every thread has its unique hue, texture, and strength, contributing to the richness of the collective story. Among these threads, the life stories of children with Down syndrome shine with a particular brightness, offering insights into resilience, joy, and the unyielding strength of the human spirit. This essay explores the life journey of a child with Down syndrome, weaving together the challenges, triumphs, and the profound lessons they impart to all who walk beside them.

Down syndrome, a genetic condition resulting from the presence of an extra chromosome 21, affects individuals in various ways, including physical growth delays, characteristic facial features, and mild to moderate intellectual disability. Yet, these clinical descriptions barely scratch the surface of what it means to live with or care for someone with Down syndrome. The story of a child with Down syndrome is not just one of medical definitions but of a life lived in full color, with each milestone, challenge, and joy adding depth to their narrative.

Consider the early years, often marked by an array of medical appointments, therapies, and the parents’ journey towards understanding and acceptance. The diagnosis might come as a surprise, perhaps even a shock, to many families. However, as they navigate through the initial waves of uncertainty, many find a wellspring of strength and love they didn’t know existed. Watching their child reach developmental milestones, whether it’s a smile, a first word, or a step, becomes a celebration of life’s simple yet profound joys. These moments, though perhaps delayed, are no less significant, highlighting the child’s determination and the family’s unwavering support.

As the child grows, so does their capacity to engage with the world. Education plays a pivotal role, with inclusive schooling offering a path for children with Down syndrome to develop academically, socially, and emotionally alongside their peers. The journey through school is not without its hurdles, from advocating for appropriate support to challenging societal misconceptions. Yet, it is also filled with triumphs, friendships, and achievements that defy the limitations often placed on individuals with Down syndrome.

Beyond the classroom, children with Down syndrome participate in a wide array of activities, from sports and arts to volunteering, showcasing their talents and contributing to their communities in meaningful ways. These experiences not only foster a sense of belonging and accomplishment but also challenge the broader societal views on disability and capability. The story of a child with Down syndrome, therefore, transcends the individual, touching the hearts and minds of those around them, prompting a reevaluation of what it means to live a fulfilling life.

Perhaps the most profound aspect of the life story of a child with Down syndrome is the perspective it offers on the essence of humanity. In their journey, we see the importance of patience, the value of unconditional love, and the power of resilience. We learn that difference does not diminish worth and that each person, regardless of ability, has something unique and valuable to contribute to the world. Through their lives, children with Down syndrome teach us about the beauty of diversity, the strength of the human spirit, and the boundless capacity for joy and love.

In conclusion, the life story of a child with Down syndrome is a narrative rich with challenges, triumphs, and invaluable lessons. It is a story that demands to be told and heard, for in it lies the power to change hearts, minds, and, ultimately, the world. As we bear witness to these stories, let us approach them with open hearts and minds, ready to be inspired, educated, and transformed by the extraordinary lives of ordinary children living with Down syndrome.

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Friday essay: on telling the stories of characters with Down syndrome

Lecturer in Creative Writing, University of the Sunshine Coast

Disclosure statement

Sarah Kanake received funding from the Australian Post-graduate Awards to research representations of Down syndrome in fiction.

University of the Sunshine Coast provides funding as a member of The Conversation AU.

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In 2014 I was asked, by my then university, to present in a jovial end of year debate. My partner, brother and a few of my close friends came to watch. The auditorium was packed. There were university bigwigs on both teams. I was pretty nervous. It went well, although many of the debaters thought they were presenting in a real debate and the rest (myself included) had only prepared jokes.

At the end there was a question and answer section. Some members of the audience asked jokey questions relating to our topic. The university bigwigs answered them. Everyone laughed.

Then my brother stood up and asked why there were no intellectually disabled people on the panel, or as students, or as lecturers. He asked why there were hardly any people with Down syndrome in books, or songs, or plays, or movies. All the art forms we taught and sought to understand at the university.

The auditorium fell silent. Maybe because of the question, but probably because my brother has Down syndrome.

One of the university bigwigs stood up, cleared his throat, and gave as sensitive a response as he could. “Integration and representation are important issues but this is a forum for levity,” he said, “and your question is not one to be laughed at.”

My brother sat down. His question went unanswered.

When the debate was over my brother and I had the first real fight we’d ever had. I said he was a grandstander and an attention hog and that these were the people who could give me a job (or not) when I finished my PhD. Why did he have to ask that question, I asked. Why couldn’t he just shut up. Why couldn’t he just fit in? I said all the stuff I had never said before and had never even allowed myself to think.

Afterwards, I felt terrible and apologised. My brother said it was okay and that he was sorry too. We got over it.

But his question remained unanswered.

If integration and representation were important issues, like the university bigwig had said, why had no one tried to answer my brother’s question?

Maybe because as Leonard Davis wrote in his 2002 book Bending Over Backwards there’s,

a strange and really unaccountable silence when the issue of disability is raised (or, more to the point, never raised)… the concept of disability has been relegated to a sideshow, a freak show at that, far away from the academic midway of progressive ideas and concerns.

The thing is, I still can’t answer all the questions my brother asked that day.

I don’t know why there is such a culture of low expectation towards people with Down syndrome specifically. I don’t know why those expectations feed into our cultural understanding of what people with Down syndrome achieve, especially when so many of us have lived experience that says otherwise.

I don’t know why there were no students, or lecturers with Down syndrome at my university that day. But, after five years of research and study, I can answer why there are very few representations of Down syndrome in narrative fiction.

So, my brother Charlie, pretend I didn’t yell at you that day after the debate. Pretend I said this instead…

In 2012, the Global Down Syndrome Foundation stated that 38% of the population knew someone with Down syndrome .

In 2013, the National Dissemination Centre for Children with Disabilities said that :

Nearly 5,000 babies are born with Down syndrome in the United States each year. This means that 1 in every 733 babies is born with this condition.

But, despite this lived experience, there is still a crisis of representation around Down syndrome, particularly in narrative fiction.

Characters with Down syndrome are extremely uncommon, narrators with diagnosed Down syndrome are few, and sole narrators with Down syndrome are basically non-existent.

Why? After all, readers don’t just respond to novels with characters who have Down syndrome, they devour them. Novels like The Memory Keeper’s Daughter (2005) by Kim Edwards and Jewel (1991) by Brett Lott have sold millions of copies. Having said that, only a certain type of adult novel about Down syndrome is popular.

The Down ‘S’yndrome Novel.

The Down Syndrome Novel refers to a novel that builds the scaffolding of plot and story around the inclusion of a character with Down syndrome, making this character necessary for the plot. If you remove the character with Down syndrome (or their disability) from the narrative, the plot caves in.

I coined the term Down Syndrome Novel in my PhD thesis in order to discuss the style of narrative where Down syndrome is included. I refer to these narratives as Down Syndrome Novels in order to reflect importance of the syndrome within the narrative structure.

Thus, I also chose to eschew the contemporary lower case ‘s’ for the more traditional (and now almost obsolete) upper case ’S’ in order to immediately identify the otherness central to these novels. This is not to criticise the Down Syndrome Novel, but rather to present a line of difference between depictions of Down syndrome and those novels where Down syndrome is indispensable to the plot.

Building the syndrome into the plot is the most important element in the Down Syndrome Novel, and also the most limiting aspect for the character with Down syndrome.

Why? Because the Down Syndrome Novel is rarely (if ever) told through the perspective of a person with a disability: they are largely told by parents.

In telling the novel through the parent’s point of view the novel often presents the disabled character as an unexpected, and often unwanted, presence.

Whether this is as a child in the parental narrative, the forced friendship/sibling relationship, or a persistent (often sexual) threat, these narratives rely on archetypes of Down syndrome to form the spine of the narrative and these archetypes almost always exist somewhere on the polarised spectrum between monstrous and angelic.

The Down Syndrome Novel centres around disability and almost universally presents the character with Down syndrome as a problem within the narrative that the narrator must learn to overcome. This movement towards acceptance is the character arc, narrative problem and eventually, the plot. In creating, and thus remaining, within these character definitions the author builds clear and impenetrable boundaries around the disabled character, and the novel including a character with Down syndrome becomes a novel almost exclusively about Down syndrome.

Having said that, the Down Syndrome Novel tries. It tries really hard to create an environment of social diversity and change.

In fact, in seeking to become a dynamic force in social change, the Down Syndrome Novel often traps its hero beneath an avalanche of narrative expectation. Often the only way to remove this expectation is for the character to become incidental to the plot. Just a character in a story, not necessarily about Down syndrome, disability or social stigma and inclusion.

However, being “incidental” to the plot carries its own difficulties and silences. The incidental character with Down syndrome may be freer within the narrative, but this character will never be free to tell their own story.

Mitchell and Snyder discuss this gap in their book Narrative Prosthesis (2000):

The marginality of disabled people has occurred in the midst of the perpetual circulation of images of disability.

The marginalisation of the character with Down syndrome in narrative fiction is not about appearing in a novel, but having a voice and agency within the narrative. When writing about the intellectually disabled, few authors have situated themselves comfortably between the content of a character’s experience and the style necessary to accommodate difference.

Angel or monster

Representations of characters with Down syndrome have historically fallen into two polarised categories – angel and monster – with few transcending the boundaries to become fully realised characters with their own autonomous voice.

This lack of freedom in voice is generally connected to the fear of the character with Down syndrome and their inclusion into the world, even an imagined world.

Fear, of the body growing into adulthood while the mind stays behind in childhood [sic]. Fear, of how the first-person voice of a character with Down syndrome might change the landscape of the modern narrative, and perhaps even fear that the character with Down syndrome will transgress all normative boundaries.

These fears, felt and expressed by the writer, narrator and reader, are all ingrained in this lack of voice. These elements, when combined, create a culture of low expectation of the character with Down syndrome within the narrative.

The disabled character is often used to illustrate and embody a theme that exists outside their interior world. In her paper Depictions of Intellectual Disability in Fiction (2007) Anupama Iyer, consultant psychiatrist in adolescent developmental disabilities for St Andrew’s Healthcare, discussed this connection.

“A character with an intellectual disability [is] a silent Rorschach ink blot onto which society projects its devices and desires.”

In an interview regarding his particular interest in intellectual disability auhtor Mark Haddon supported this statement when he said:

“For me, disability is a way of getting some extremity, some kind of very difficult situation, that throws an interesting light on people”.

Here, Haddon identifies that disability is the key he uses to create conflict, and he isn’t the only one. In fact, most Down Syndrome novels use disability to create the central narrative conflict and, while these novels have clearly good intentions, this conflict only serves to distance the character even further from the reader. It makes Down syndrome “other”.

Most characters with Down syndrome, particularly within the Down Syndrome novel, are heterosexuals from white, middle-class (although often the families fall on hard times) multiple-children families. They are heavily normalised by the author and a narrative voice outside their intellectual disability but, as an intellectually disabled “Other”, characters with Down syndrome are sometimes capable of stretching their own limits using the vehicle of their disability.

In William Faulkner’s The Sound and the Fury (1929) Benjamin’s behaviour is heavily normalised by his family, particularly his sister Caddy. Benjamin - who has an unidentified severe intellectual disability - is admonished and condemned but any strangeness or disturbance in his behaviour is expected. He can use his disability for attention, and affection, and this is why, when he forces his hand through the fence, he unable to understand the terror and disgust he finds there.

While Benjamin is not capable of moving beyond the property borders unpunished, it is still possible for a character with Down syndrome to find freedom in traversing the boundaries of normative behaviour.

Dissolving boundaries

In my Gothic Tasmanian novel Sing Fox to Me (2016) I was extremely conscious of representing and dissolving boundaries around my protagonist with Down syndrome, Samson Fox, in order to create a narrative where Samson was free to move, evolve and change.

Because, just as a person with an intellectual disability has the right to be a “significant member of society”, so does a character with Down syndrome have a right to a belonging within the story that does not build them into the scaffolding of the narrative.

In her book Greater Expectations (2010) disability researcher Jan Gothard writes:

Inclusion means more than simply having people with disabilities in mainstream classrooms and workplaces. It’s about the state of mind which sees people with disabilities accepted as valued, significant and worthwhile members of society: people who have every right to belong.

When I started writing Sing Fox to Me, I wanted to understand why characters with Down syndrome didn’t seem to match up with the lived experiences expressed in books like Jan Gothard’s Greater Expectations or my own lived experience.

What I discovered is that the world both within and outside the novel is still struggling to understand the limits and expectations of Down syndrome.

Down syndrome is still something of a mystery because it is largely represented through archetypes, and images folded down through literature. There is in fiction, as there is in life, a culture of low expectation.

Ultimately, I do not expect to fill the gap in representations of Down syndrome within narrative fiction – no single author could – and my novel was certainly never intended to be the final word on how characters with Down syndrome could function within the novel.

After all, the novel is forever changing, and my hope is that characters with Down syndrome will diversify and change with it. My character with DS, Samson Fox, can be part of this change but he can’t carry the full weight of his disability. Samson can only tell one fictional story. He is only one voice in a symphony of what could be thousands, maybe even 1 in every 733.

I started questioning depictions of Down syndrome in fiction and writing Sing Fox to Me with the express purpose of changing something.

I wanted to change the world inside my library. I wanted to open a book and see a character with Down syndrome. I wanted to hear his voice and see inside his head. I wanted to know what he thought.

However, once the novel was finished and printed, I realised that what I really wanted to change was me. I wanted to be able to write about something I had yet to see in fiction, but I also wanted to show other authors that they could have higher expectations of characters with Down syndrome.

I wanted, as Foucault once said , to write a “book so that other books are possible, not necessarily written by me”.

My brother, Charlie, what do you think? Does this answer (at least part of) the question you asked that day at my university debate?

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84+ Down Syndrome Essay Topic Ideas & Examples

• Bob Johnson
• May 12, 2023
• Advanced Nursing Ethics , Advanced Pathophysiology , Nursing Topics and Ideas , Women's Health Nursing

Down syndrome is a genetic condition that affects millions of people around the world. It is caused by a chromosomal abnormality that can lead to a range of physical and intellectual disabilities. As awareness of Down syndrome continues to grow, it is important to understand the impact of this condition on individuals, families, and society as a whole.

30+ Down syndrome essay topics and ideas

• The latest research on the causes and risk factors  of Down syndrome.
• The impact of Down syndrome on cognitive development and intellectual disability.
• The role of early intervention and therapies in promoting development for individuals with Down syndrome.
• The effectiveness of inclusive education and accommodations for students with Down syndrome.
• The impact of Down syndrome on language development and communication.
• The role of genetic counseling and testing in Down syndrome diagnosis and  family planning .
• The effectiveness of medical interventions, such as surgery, in treating common health issues associated with Down syndrome.
• The impact of Down syndrome on mental health and well-being.
• The role of technology, such as assistive devices and communication apps, in supporting individuals with Down syndrome.
• The effectiveness of vocational training and employment programs for individuals with Down syndrome.
• The impact of Down syndrome on relationships and socialization.
• The role of family support and advocacy in promoting the rights and needs of individuals with Down syndrome.
• The effectiveness of  physical therapy  and exercise programs for individuals with Down syndrome.
• The impact of Down syndrome on aging and long-term care.
• The role of community-based organizations and support groups in promoting inclusion and acceptance of individuals with Down syndrome.
• The effectiveness of alternative and complementary therapies, such as music and art therapy, in supporting individuals with Down syndrome.
• The impact of Down syndrome on hearing and vision.
• The role of nutrition and dietary interventions  in promoting health for individuals with Down syndrome.
• The effectiveness of mindfulness-based interventions in promoting mental health and well-being for individuals with Down syndrome.
• The impact of Down syndrome on sleep and sleep disorders.
• The role of animal-assisted interventions in promoting socialization and well-being for individuals with Down syndrome.
• The effectiveness of sensory integration therapy in promoting development and well-being for individuals with Down syndrome.
• The impact of Down syndrome on sexual and reproductive health .
• The role of assistive technology in supporting individuals with Down syndrome in the workplace.
• The effectiveness of respite care and support services for families of individuals with Down syndrome.
• The impact of Down syndrome on mobility and physical activity .
• The role of pharmacological interventions in treating common health issues associated with Down syndrome.
• The effectiveness of mindfulness-based interventions in promoting mental health and well-being for caregivers of individuals with Down syndrome.
• The impact of Down syndrome on the  immune system  and susceptibility to infection.
• The role of peer support and mentorship in promoting socialization and well-being for individuals with Down syndrome.

20+ controversial Down syndrome essay topics to write about

• The ethics of prenatal testing and selective abortion for Down syndrome.
• The impact of negative stereotypes and stigma on individuals with Down syndrome.
• The role of eugenics and ableism in the treatment of individuals with Down syndrome.
• The effectiveness of medical interventions, such as heart surgery , in treating health issues in individuals with Down syndrome.
• The impact of Down syndrome on end-of-life care and decision-making.
• The role of government policies and funding in promoting inclusion and support for individuals with Down syndrome.
• The effectiveness of alternative and complementary therapies, such as homeopathy and acupuncture, in treating common health issues associated with Down syndrome.
• The impact of Down syndrome on family dynamics and caregiving responsibilities.
• The role of assisted reproductive technologies and genetic engineering in Down syndrome prevention.
• The effectiveness of  stem cell therapy  in treating health issues associated with Down syndrome.
• The impact of race and ethnicity on Down syndrome diagnosis and treatment.
• The role of assistive technology and devices in promoting independence and quality of life for individuals with Down syndrome.
• The effectiveness of alternative education models, such as homeschooling and unschooling, for students with Down syndrome.
• The impact of Down syndrome on sexuality and romantic relationships.
• The role of advocacy and self-advocacy in promoting the rights and needs of individuals with Down syndrome.
• The effectiveness of alternative and complementary therapies, such as aromatherapy and reflexology, in promoting mental health and well-being for individuals with Down syndrome.
• The impact of Down syndrome on employment and career opportunities.
• The role of social media and technology in promoting awareness and acceptance of individuals with Down syndrome.
• The impact of Down syndrome on the criminal justice system and legal proceedings.

20+ current Down syndrome essay topics to write about

• The latest research on potential treatments for cognitive deficits in individuals with Down syndrome.
• The impact of COVID-19 on individuals with Down syndrome and their families.
• The latest developments in assistive technology and devices for individuals with Down syndrome.
• The effectiveness of new educational models and strategies for students with Down syndrome.
• The latest research on the potential environmental factors that may contribute to Down syndrome.
• The impact of Down syndrome on the immune system and susceptibility to infection.
• The latest advances in prenatal testing and genetic counseling for Down syndrome.
• The effectiveness of new drug therapies and interventions for treating common health issues associated with Down syndrome.
• The latest research on the potential role of gene therapy in treating Down syndrome.
• The impact of Down syndrome on mental health and the latest developments in mental health interventions for individuals with the condition.
• The latest research on the potential role of gut health and the microbiome in Down syndrome.
• The latest developments in inclusive education models for students with Down syndrome.
• The impact of Down syndrome on sleep and the latest developments in sleep interventions for individuals with the condition.
• The latest research on the potential impact of physical activity and exercise on cognitive and physical health in individuals with Down syndrome.
• The latest developments in alternative and complementary therapies, such as music and art therapy, for individuals with Down syndrome.
• The impact of Down syndrome on vision and hearing and the latest developments in treatment options.
• The latest research on the effectiveness of mindfulness-based interventions in promoting mental health and well-being for individuals with Down syndrome.
• The impact of Down syndrome on aging and the latest developments in long-term care options.
• The latest research on the potential role of epigenetics in Down syndrome.
• The impact of Down syndrome on fertility and  reproductive health  and the latest developments in treatment options.

30 Down syndrome research questions

• What is the prevalence of Down syndrome worldwide, and how has it changed over time?
• What are the most common health issues associated with Down syndrome, and how can they be effectively managed and treated?
• How does Down syndrome affect cognitive development and intellectual disability, and what interventions are available to support individuals with the condition?
• What role do genetic counseling and testing play in diagnosing and managing Down syndrome, and how can they be effectively utilized by healthcare providers and families?
• How does Down syndrome impact language development and communication, and what interventions are available to support individuals with the condition?
• What is the effectiveness of inclusive education and accommodations for students with Down syndrome, and what strategies can educators use to promote development and inclusion?
• What is the role of technology, such as assistive devices and communication apps, in supporting individuals with Down syndrome, and how can these tools be most effectively utilized?
• What is the impact of negative stereotypes and stigma on individuals with Down syndrome, and what strategies can be used to promote awareness and acceptance?
• How does Down syndrome impact mental health and well-being, and what interventions are available to support individuals with the condition?
• What is the effectiveness of vocational training and employment programs for individuals with Down syndrome, and what strategies can be used to promote success in the workplace?
• What is the impact of Down syndrome on relationships and socialization, and what interventions are available to support individuals with the condition?
• What role do family support and advocacy play in promoting the rights and needs of individuals with Down syndrome, and what strategies can be used to promote effective advocacy?
• What is the effectiveness of physical therapy and exercise programs for individuals with Down syndrome, and what strategies can be used to promote healthy development?
• What is the impact of Down syndrome on aging and long-term care, and what interventions are available to support individuals with the condition as they age?
• What is the role of community-based organizations and support groups in promoting inclusion and acceptance of individuals with Down syndrome, and how can these groups be most effectively utilized?
• What is the impact of Down syndrome on hearing and vision, and what interventions are available to support individuals with the condition?
• What is the role of  assistive technology  in supporting individuals with Down syndrome in the workplace, and how can these tools be most effectively utilized?
• What is the effectiveness of respite care and support services for families of individuals with Down syndrome, and what strategies can be used to promote effective support?
• What is the impact of Down syndrome on mobility and physical activity, and what interventions are available to promote healthy development and mobility?
• What is the effectiveness of mindfulness-based interventions in promoting mental health and well-being for individuals with Down syndrome, and what strategies can be used to promote effective implementation?
• What is the impact of Down syndrome on sexual and reproductive health, and what interventions are available to support individuals with the condition?
• What is the effectiveness of sensory integration therapy in promoting development and well-being for individuals with Down syndrome, and what strategies can be used to promote effective implementation?
• What is the impact of Down syndrome on the  immune system  and susceptibility to infection, and what interventions are available to promote health and well-being?
• What is the effectiveness of alternative and complementary therapies, such as music and art therapy, in supporting individuals with Down syndrome, and what strategies can be used to promote effective implementation?
• What is the impact of race and ethnicity on Down syndrome diagnosis and treatment, and what strategies can be used to promote equitable access to care?
• What is the effectiveness of alternative education models, such as homeschooling and un-schooling, for students with Down syndrome, and what strategies can be used to promote effective implementation?
• What is the impact of Down syndrome on sexuality and romantic relationships, and what interventions are available to support individuals with the condition?
• What is the effectiveness of  pharmacological interventions  in treating common health issues associated with Down syndrome, and what strategies can be used to promote effective use of medication?
• What is the impact of Down syndrome on the criminal justice system and legal proceedings, and what strategies can be used to promote equitable treatment and access to justice?
• What is the effectiveness of animal-assisted interventions in promoting socialization and well-being for individuals with Down syndrome , and what strategies can be used to promote effective implementation?
• What is Down syndrome? Answer: Down syndrome is a genetic condition caused by the presence of an extra copy of chromosome 21. It is associated with a range of physical and intellectual disabilities.
• What are the common health issues associated with Down syndrome? Answer: Common health issues associated with Down syndrome include  heart defects , hearing and vision problems, thyroid issues, and gastrointestinal issues.
• How is Down syndrome diagnosed? Answer: Down syndrome can be diagnosed through prenatal testing or after birth through a genetic test or physical examination.
• What are the treatment options for Down syndrome? Answer: Treatment options for Down syndrome depend on the individual’s specific health issues and may include medical interventions, therapies, and assistive devices.
• What is the life expectancy for individuals with Down syndrome? Answer: The life expectancy for individuals with Down syndrome has increased significantly in recent years, with many individuals living into their 60s and beyond.

In conclusion, Down syndrome is a complex genetic condition that can have significant impacts on physical and  cognitive development . However, with the right support and accommodations, individuals with Down syndrome can lead fulfilling lives and achieve their full potential. From the latest research on potential treatments to controversial ethical questions, there is a wealth of information to explore on this topic. By promoting awareness and acceptance, and advocating for the rights of individuals with Down syndrome, we can work towards a more inclusive and supportive society.

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Research Topics About Down Syndrome

• Down Syndrome: Causes and Signs of Living with It
• Correction: Pioglitazone Enhances Bioenergetics and Mitochondrial Organization in Down Syndrome Cells
• Down Syndrome Patients’ Microstate Changes Linked to Alzheimer’s Disease
• Down Syndrome’s Low-Resolution Place and Response Learning Capacities
• Cystic Fibrosis and Down Syndrome in Genetics and Evolution
• Down Syndrome-Related Speech and Language Impairments in Children
• Including Students with Down Syndrome in Classrooms
• Down Syndrome and Spina Bifida – Cause, Effects, and Treatment 8. Autism, Down Syndrome, and Equal Rights: A Look at the Past and Present of Diverse Populations and Sport
• The Benefits of Inclusive Education and Down Syndrome
• Semantic Verbal Fluency Pattern, Dementia Rating Scores, and Adaptive Behaviour Correlate with Plasma A 42 Concentrations in Down Syndrome Young Adults.
• Response Inhibition and Interference Suppression in Down Syndrome Individuals Compared to Typically Developing Children.
• Down Syndrome and Music Therapy
• Between “Desperation” and Disability Rights: Examining Alternative Treatment for Down Syndrome Children
• Down Syndrome Is An Example of A Chromosomal Anomaly
• Diabetes, Health Conditions, and Down Syndrome
• Issues Concerning Kids with Down Syndrome
• Down Syndrome’s Physical and Psychological Traits
• The Most Successful Down Syndrome Individuals
• Down Syndrome Affects Physical Development and Facial Features

Down Syndrome Essay Titles

• Preschool Children with Down Syndrome: Cognitive Skills, Behavior, and Learning Potential
• The Down Syndrome: Its Causes, Symptoms, Diagnosis, and Management
• Down Syndrome in Children: A Developmental Disorder
• The Development of Reproductive Cells and Down Syndrome
• How Down Syndrome Kids Interact with Their Relatives and Peers
• Down Syndrome’s Causes and Developmental Course
• The Effects of Dance Therapy for Down Syndrome and Improvements
• How Down Syndrome-Affected Children Behave in the Classroom, How Well They Speak English, and How Mainstream Peers View them
• Learning Styles for Down Syndrome Kids
• The Impact of the Media on People with Down Syndrome, Both Positive and Negative
• Down Syndrome Is A Congenital Disability that Affects Both Parents and Kids.
• Down Syndrome in Children with Intellectual Disabilities
• Causes, Symptoms, Diagnosis, & Treatment of Down Syndrome
• Learning and Development for Individuals with Down Syndrome
• Down Syndrome-Related Physical and Mental Characteristics, Increased Risk Factors, and the Need for Care and Stimulating Environments
• Congenital Heart Defects with Maternal Line-1 DNA Methylation in Down Syndrome
• Down Syndrome and Mild Intellectual Disability: A Health Case Study
• Down Syndrome and Alzheimer’s Disease: A Comparison of Blood Beta-Amyloid and Tau Levels
• Treatment Case Study: Improving Working Memory Capabilities in Down Syndrome Patients
• Down Syndrome and Allocentric Spatial Learning and Memory Deficits
• Why Does Down Syndrome Occur?
• Why Do Down Syndrome Patients See A Family Doctor?
• How Does Having Down Syndrome Affect the Person?
• How Can People with Down Syndrome Achieve Prosperity?
• How Do People with Down Syndrome Interpret Expressions on Faces and Words?
• Which Gender Has A Higher Chance of Having Down Syndrome?
• What Factors Contribute to Down Syndrome?
• Can A Girl with Down Syndrome Have A Baby?
• What Are the Five Characteristics of Down Syndrome Characteristics?
• How Long Will Someone with Down Syndrome Live?
• Is Down Syndrome Curable?
• What Are the Three Down Syndrome Subtypes?
• How Can Down Syndrome Be Prevented During Pregnancy?
• Are People with Down Syndrome Intelligent?
• What Follows A Positive Down Syndrome Test?
• Is Down Syndrome A Hereditary Condition?
• Is Down Syndrome A Form of Autism?
• Is Down Syndrome A Result of Stress?
• Can A Baby with Down Syndrome Be Born to Two Normal Parents?
• Is Down Syndrome Considered A Disability?
• Which Organ Is Down Syndrome Most Likely to Affect?
• Does A Mother’s Age Impact the Down Syndrome She Has?
• Can An Ultrasound Detect Down Syndrome in A New-Born?
• What Causes the Most Deaths in People with Down Syndrome?
• Can A Person with Down Syndrome Drive?
• Who Is the Oldest Down Syndrome Sufferer?
• What Down Syndrome Pregnancy Symptoms Are There?
• Is Down Syndrome Curable While A Woman Is Pregnant?
• What Race Has the Highest Rate of Down Syndrome?
• Which Week of Pregnancy Is Down Syndrome Most Common?

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Children Diagnosed with Down Syndrome Research Paper

Introduction, ‏literature review, methodology, discussions and results.

This paper seeks to establish information on the mechanisms, which parents apply in handling children diagnosed with Down syndrome. This is in connection with teaching and educating children with Down syndrome. For some time now, there has been little awareness to parents with children suffering from Down syndrome on how they can deal with their children especially when it comes to teaching and educating.

Most parents will leave these duties to specialists and other supervisors in this field because they do not know their contribution towards such cases. Down syndrome is a chromosome disorder characterized by an extra chromosome number 21(Trisomy 21). Down syndrome, which is a relatively widespread birth defect, causes multiple malformations, mental retardation, and a characteristic face.

This study aims at showing people and especially parents with exceptional needs solutions and options to broaden their choices in providing a healthy normal life for the child. The focus of this research will be on children with Down syndrome, show how perfectly it is to raise and educate a child who is diagnosed with this disability at home with no need for a specialist’s supervision.

This also outstanding by clearing a misconception that educating and taking care of children with this disability starts from home, not at school as some people may think. With only a little bit of awareness about this disability parents can raise children with Down syndrome just like normal children? The question this research is aiming to answer is how could parents teach and educate children diagnosed with Down syndrome.

‏Parents with disabled children have always faced anxiety and coping struggles with their exceptional children, it is already hard, raising children but to have a child with particular needs requires resources and a healthy positive mental state to make the lifestyle less anxious for both the child and the parent.

However, in reality when research was conducted coping with disabled children and keeping that healthy attitude is not as easy, so this research aims to understand the stressful reality of families with disabled children in the Saudi mainstream with the different factors and limitations that make this experience more stressful than parents who live in other regions.

‏Research tells us that parents have a high level of distress found up to 70% in mothers and 40% in fathers for severely disabled children, in addition the general psychological literature, and specific studies of disabled children show that the parental distress and family lifestyle affects the child’s behavioural, social and cognitive functioning and development to the worse or better, also levels of stress are related to how the family surrender to the limitations of their child and let it control and dominate their life, on the contrary optimistic attitude tends to show lower stress levels (Byrne & Cunningham & Sloper, 1988).

‏In a research on family adaption, coping and resources for disabled children stated that lack of resources and financial problems adds more stress and mal-adaptation to the family, because with financial support the family can contact immensely powerful programs to help them provide an almost normal life for their child in terms of education, discipline and even cognitive neurological checkups (Dykens, Hodapp & Finucane, 2000).

‏The research used The Family Stress and Support Questionnaire to gather data concerning issues parents encounter in raising children with disabilities, but out of 17 issues the research concentrated on two items, which are the interaction with family, friends and neighbours and the interaction and communication with different professionals and doctors.

The results of this research matched the results of others that emphasized the importance of coping strategies and perceptions in reducing the stress of the parents. More specifically this study revealed that strategies involving a healthy optimism, cooperation and family integration were strongly associated with reduced stress.

The research also found that the behavioural problem itself is not the indicator of the level of stress but the severity of that behaviour and frequency is what influences parental stress. In addition, the assessments used to convey these results were rating scales so they are not as direct as other measures, which are an appropriate measure to use for future research in this topic to yield different results.

‏More research in this area should examine the different developmental stages of the child in association with different stress levels and duration, also select a wider number of participants to reveal more accurate statistics, also the concentration on a specific population would give more understanding on how the culture plays a prominent role in influencing such cases and, therefore, showing different stress levels according to culture or society.

In research, information can be from primary or secondary sources. Primary sources of information involve first hand information obtained using interviews, questionnaires, and observation. In this paper, most of the information is from a primary source. The method in use in this paper is a qualitative method; data will be collected from a case study of a Saudi family with a son who is diagnosed with Down syndrome.

This will be by interviewing the mother and her child after signing an informed consent for reasons of the research and previewing professionalism and confidentiality to further understand the experience and struggles mothers undergo. The methods in use will also reveal the role of the father in supporting such a problem with minimal knowledge and resources.

In trying to understand the families’ ways of dealing with their child, we gathered much information from the mother, father and child. It can be more traumatising to parents of a child with this condition who did not plan their pregnancy and may not be aware of the main cause for the condition of the child. In the event, the pregnancy was not planned for the parents may link the condition of the baby to other factors like contraceptives not knowing that it is Down syndrome.

In this case, the family had prepared to have another baby when the couple was in their late years. At the conception of the child, the mother was 39 years while the father was 45 years and the gap between the last child and this conception was five years. One of the risk factors in having a child with Down syndrome is the maternal age of the parents. In this situation, the parents need to have been aware that the chances of the coupe having a child with Down syndrome were high because the mother was above the age of thirty years.

The risk factors of having a child with Down syndrome include advancing maternal age, being carriers of the genetic translocation for Down syndrome, and having a child with Down syndrome. In the case of the Saudi family, the mother’s age was above 30 years. A woman’s chances of having a child with Down syndrome increase with age.

The reason behind this is with age older eggs have a greater risk of reprehensible chromosome division. Statistics have it that out of four hundred women above the age of 35 years one of them will give birth to a child with Down syndrome. In this case, it is noteworthy that parents are aware of their chances and the doctor can monitor the progress of the baby so that they can know of what to expect (Jones & Passey, 2005).

In being aware that conceiving at an older age for the woman may lead to giving birth t a child with Down syndrome, parents can prepare both psychologically and physically for the child. Most parents find it difficult to deal with Down syndrome children because they did not prepare for them and this situation gets them off guard. From the response, of the Saudi family they were not aware of the condition or possibility of the Down syndrome occurrence.

Despite the mother, attending all the anti-natal care needs, the tests did not reveal anything and neither did the doctor detect any abnormalities. As much as the mother was aware of the dangers of conceiving at her age, the doctor kept on assuring her that everything was okay and the that the pregnancy was normal.

The only notable abnormality was noted when the pregnancy was eight months old as the weight of the baby was less compared to the normal weight. Therefore, the parents did not have the idea they could have a child with Down syndrome. This is evident in the way the parents tried to detect other diseases and conditions that the child could be suffering from and not having Down syndrome in mind.

At birth, the child developed heart problems and the parents took the child for the tests except Down syndrome. Most parents do not believe in the option of them having a child with Down syndrome and will, therefore, try to relate the first signs of this condition to other problems but not Down syndrome.

This, in turn, makes exceedingly few parents to know mechanisms in which they can teach and educate their children with this condition. Down syndrome condition has impacts on both the intellectual and physical development of the individual and it calls for individual attention to the patients. In addition to the physical malformations, the intellectual handicap from Down syndrome is a serious issue to parents.

The intellectual problem of Down syndrome children is not evident in the early years of their lives but in the later stages of development. For this reason, the children will not develop as normal children and will require exceptional care from their parents and caregivers. There is a notion that these can only be done by specialized people and caregivers. This is not true as any parent can learn how to handle his or her child irrespective of their condition (Selikowitz, 2008).

Educating and teaching children with Down syndrome becomes an easy task when the parents get enough support from the relevant people. For instance, the news that their children had Down syndrome was devastating to the parents considering they did not expect this of their child.

In this society, the duty of taking care of the children lays most with the mothers as the fathers play the role of breadwinners. The difficulty of dealing with Down syndrome children comes when the mothers do not get enough support from their husbands. This is a responsibility that calls for both parents to play and in supporting each other; the parents can learn more ways of teaching and educating their child. In the end, there will be no need for employing the services of a specialist in dealing with the child.

Having support from the spouse will improve the way in which the parent will cope with a child with Down syndrome. The reason as to why the level of stress increases in mothers attending to Down syndrome children is the fact that their husbands distance themselves from the family leaving them to be the only parents to children.

Another notable coping mechanism for parents dealing with children with Down syndrome is talking about the issue with other people. Most people will opt to keeping the situation to themselves in most severe cases parents hide these children. Lack of being open about the situation of the Down syndrome child limits the ways in which the parent can obtain information on how to deal with the children.

Regarding the information of the Saudi family it took, them time before they could reveal the condition of their baby to other people. The parents only informed other family members but not the people dealing with the baby on a daily basis. This is dangerous as children with Down syndrome need exceptional care and cannot be taken care of in the same way as other normal children. Informing other people about the condition of the baby is paramount, so that other people can know how well to cope with the child.

Hiding or not revealing the condition of the baby only makes matters worse because the caregivers will not understand some of the characteristics of the child. In order for a parent, to cope well with a child with Down syndrome it is necessary that he or she becomes open to people about the condition of their child.

The major reason as to why parents with children with Down syndrome fear revealing their condition is for fear of stigmatization. These parents want their children to be categorized as normal, and yet they know that their children are not normal. Some families may associate these conditions with other elements like witchcraft hence the parents chose to keep mum about the issue.

The family in this case waited until their child was five years old that they let everybody know about his condition. At this age, the child may have already undergone stigmatization due to lack of knowledge on the part of the other people dealing with the child. It is, therefore, essential that parents be open concerning the condition of their baby, as this will improve the way in which they deal with their Down syndrome children.

Being open about the condition of the children will call for support from other people especially those dealing with the baby on a daily basis. Family and friends can be instrumental in coping with children with Down syndrome. For instance, in the case of the Saudi family the other members of the family turned out to be supportive of the child especially the youngest child.

Most of the learning the child with down syndrome has gotten from the seven and a half brother who keeps involving him in his play. As much as the other family members know about the condition of their brother, they do not treat him differently, but help him in his growth and development.

The extended family can also be supportive as long as they are aware of the child’s condition. In so doing the parents can come with better coping mechanisms and; hence, bringing up the child in a friendly and receptive environment. Increased support from the people around the child creates a positive environment for his or her growth and in most cases; the people learn how to handle the child without discrimination and stigmatization.

Lastly, the parents can cope with the condition by getting as much information in connection to the condition. Since most people are not aware of the condition, there is less information concerning the condition in most countries. It takes travelling to other established countries to even detect Down syndrome in a child, which means there is also less information about the disease.

It is notable that parents with children with Down syndrome get access to information concerning the condition so that they understand the growth and development of the child. The availability of information makes it easy for one to understand and deal with the situation and the child. Information can be in various forms for instance through books, the internet, physically through doctors, and other organizations.

Psychological help is also needed especially to the parents and other people in the child’s life. Through counselling and therapy, the parents can easily accept the situation and instead of basing so much on the negative side, they can use the energy to help the child.

Having a child with Down syndrome is not an everyday occurrence and may be depressing to parents and the people staying with the child. The availability of psychological help enables these people to cope with the situation bravely, and in turn help the child to grow (Ranad, Mona & Reem, 2005).

Coping with a child with Down syndrome requires several mechanisms because it is dealing with a person whose physical and intellectual state are not stable. For instance in the case study, the child is extraordinarily weak having undergone an open-heart surgery at six months of age.

Such a child will need exceptional attention and care including the food he eats so that he can be strong enough to develop and grow. In teaching and educating, such a chid requires information and support from every area of life. It is notable that the family members know the condition of the child so that they can offer the right support and advice to parents.

This can be by playing with the child, feeding the child, educating and teaching the child. The view of leaving the work of teaching and educating a child with Down syndrome to specialists needs to stop as this can start from home. By family members playing and interacting with the child, they will be educating the child on the basics of life and the rest they can get from school.

Down syndrome is a condition that can occur in any child of any family, and this makes it indispensable for everyone to have information regarding the condition. People need to know the causes of Down syndrome and how to deal with children having the condition.

Interacting with the child with Down syndrome is the main mechanism of coping with the situation. By regularly interacting with the child, we provide a positive environment in which the child grows and develops. This, in turn, will be a way of teaching and education a child with Down syndrome and hence, reduce the notion that these cannot take place at home.

Being open about the situation is also another way in which parents can easily deal with children suffering from Down syndrome. Revealing the condition to other people especially family members enhances the support one gets in dealing with the child also increases the child’s acceptance in the family. In so doing, people will be ready to understand and help the parent in coping with the child with Down syndrome.

In the event, parents become aware of the several methods of dealing with children with Down syndrome the availability of information concerning the condition will increase. It is, therefore, noteworthy that parents accept the occurrence of the situation as a first step of dealing with children with Down syndrome.

Byrne, A. E., Cunningham, C., & Sloper, P. (1988). Families and their children with Down’s syndrome: one feature in common . New York: Routledge.

Dykens, E. M., Hodapp, R. M., Finucane, B. M. (2000). Genetics and mental Retardation syndromes: a new look at behaviour and interventions . Virginia: Paul H. Brookes Publisher Company.

Jones, J., & Passey, J. (2005). Family adaptation, coping, and resources: Parents of children with developmental disabilities and behaviour disorders . New York: Cengage Learning.

Ranad, K., Mona, F., & Reem, H. (2005). The Coping Mechanisms of Parents with Down Syndrome . New York: Routlege.

Selikowitz, M. (2008). Down syndrome . London: Oxford University Press.

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I spent over $100,000 on IVF treatments. Eventually, one of my sisters donated her eggs, and the other was my surrogate.

• Jaclyn Fieberg and her husband, Greg, longed for a baby. But they had complex fertility issues.
• One of Fieberg's sisters stepped up as an egg donor. The other became their surrogate.
• The couple's dream to become parents came true in February 2024 when their daughter was born.

This as-told-to essay is based on a conversation with Jacyln Fieberg . It has been edited for length and clarity.

Seconds after our baby started to cry as she was lifted free by the doctor, my sister, Stephanie, who'd just delivered her by C-section, shouted from the operating table.

"Jaclyn, you're a mom!" she said.

My husband, Greg, and I sobbed with joy. We'd finally become parents. Our daughter was a miracle after five years of heartache caused by infertility.

They say that it takes a village to raise a child . In our case, it took a family to create one. Stephanie, 41, stepped up as our surrogate, while Meredith, another of my sisters, was our egg donor.

Greg and I got married in October 2018. I was 33, and he was 39 at the time. We knew we wanted a family and tried for a baby almost immediately.

Unfortunately, it didn't happen naturally. We went for tests in 2019 that showed that Greg's sperm wasn't the best quality. We underwent IUI, which didn't work, before moving on to IVF.

I had a disorder that was linked to major fertility and heart problems

I got pregnant during our first round in March 2020. I wasn't expecting it to happen so fast. We were delighted.

However, at my 12-week ultrasound, they couldn't detect a heartbeat. It was supposed to be a happy day. But it was horrible. I needed a D&C.

We had extensive genetic testing before the next round of IVF. The geneticists discovered that I had Mosaic Turner syndrome , a chromosomal condition that occurs randomly.

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We were shocked. Typically, those with Mosaic Turner syndrome are short. I'm 5ft 9in tall. However, the disorder was linked to major fertility and heart problems .

I was later diagnosed with endometriosis and had multiple procedures in 2022. One of my fallopian tubes was removed.

Still, we did a total of six more rounds of IVF. I was having constant injections. We got our hopes up twice. But, first, it was a chemical pregnancy and then an early miscarriage .

It took a huge toll mentally. It affected our marriage. Greg works as a firefighter. He's a fixer, but he couldn't do anything to fix this for me — and for us. "I think we should stop," he told me at one point.

He was trying to protect me, but it wasn't the right answer. Traveling and getting another dog wasn't going to fulfill our desire to have kids.

We began to think about donor eggs from a stranger. But we're a very close family — Stephanie, Meredith, and my youngest sister, Samantha, lived through every high and low of our IVF journey.

My sisters' selflessness made our dreams come true

They wanted to help in any way they could. The genetic piece was important to me. Meredith, a mom of twins, put herself forward as our donor. Stephanie, who has two kids, and Samantha did the same.

We ruled out Samantha because she didn't already have children. Our fertility specialist decided Meredith was the better candidate. She was six years younger than Stephanie.

The retrieval of the eggs was successful. They were fertilized with Greg's sperm. Then, in December 2022, the doctor transferred one of the embryos into my uterus. Sadly, I didn't get pregnant.

But we didn't give up. Stephanie volunteered to be our surrogate, and we said yes. It was another selfless act by one of my sisters. Our decision was supported by David Berck , a high-risk maternal and fetal medicine doctor at Northwell Health in Westchester, New York.

A second embryo was transferred to Stephanie. It took. Greg and I were super cautious, but at last, we were pregnant. We figured out that it had cost us around $100,00 in medical fees to get to that stage. But it was worth every cent. I accompanied Stephanie to every pre-natal appointment . It felt so real seeing Emersyn on the scans; it was as if I was carrying her myself.

She was safely delivered on February 1st this year, weighing 7 pounds and 15 ounces. Greg, my mom, Barbara, and I were in the operating room with Stephanie. We cried hysterically.

Meredith and Stephanie presented us with the most special gift in the world. We're so lucky and grateful to them for Emersyn.

Do you have a powerful story to share with Business Insider? Please send details to [email protected] .

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Essays on Down Syndrome

46 samples on this topic

On this site, we've put together a directory of free paper samples regarding Down Syndrome. The idea is to provide you with a sample close to your Down Syndrome essay topic so that you could have a closer look at it in order to get a better idea of what a great academic work should look like. You are also advised to implement the best Down Syndrome writing practices showcased by professional authors and, eventually, craft a high-quality paper of your own.

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Exemplar Case Study On Cerapalsy To Write After

Additional observation and information that is required to start planning treatment

First, I would get information on any associative conditions specifically behavior since I want to enhance Riley ability to socialize with the fellow students. I would gather this information by observing his social interactions.

Determining if Riley has eating problems is also important in planning treatment.

Example Of Term Paper On Research Method And Studies On The Topic

Psychology: Baddeley’s Working Memory

Good Example Of A Young Boy With Trisomy 21 (Down Syndrome) Research Paper

Advanced writing essay sample, good essay about down’s syndrome.

DOWN’S SYNDROME

Describe a patient with the condition of Down’s syndrome. Answer: Julie, an eighteen years old female patient was diagnosed with Down’s syndrome. She was dependent on her parents for basic routine tasks like washing and dressing. These issues began to pose as more problematic day by day as it was not possible for her to go out on trips with her friends. She was unable to move out of her home due to her extreme dependency on her parents (Katemeadsassociates.com, 2016).

What is Down’s syndrome?

Free Research Paper On Sleep Disorder And Therapy

Many sleep disorders affect different people at different ages. These diseases present with different but related symptoms. The most common feature is an effect on the patterns of sleep of the patients. It is proper that both the patient as well as his or her family is aware of the expected symptoms and effects once an individual is diagnosed with any sleep disorder. Therefore, family health education is a crucial tool in the awareness creation among the family members. The focus of this paper is to highlight the signs, symptoms, treatment, and complications of certain mental disorders.

Sleep Apnea caused by Obesity

Perfect Model Essay On Down Syndrome

Introduction

Down syndrome is an atypical chromosomal condition. The main cause of this abnormal condition is Trisomy-21, a genetic error, where every cell in the individual’s body consists of three chromosome 21 facsimiles. The presence of additional chromosome 21 replicas results in the individual’s abnormal physical development and the related cerebral disability resulting in leukemia, cardiac issues, and distinguishing physical characteristics (Lana-Elola, Watson-Scales, Fisher, & Tybulewicz, 2011). Although, it is not possible to cure Down syndrome, the availability of various treatment options make it possible for the parents and healthcare providers to handle the patient with effectiveness.

Etiology and Risk Factors

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Prenatal Testing and Screening

Genetic Disease (Down Syndrome) Essay

Good case study on tests for vanishing twin syndrome determination.

Vanishing Twin Syndrome

Free Paper Assignment 2 Essay: Top-Quality Sample To Follow

Learn to craft research papers on gay rights: campaign critique with this example.

The acceptance of those with special needs, like those with Down Syndrome, as an example, is a significant topic in the world today. While legislation like the Americans with Disabilities Act (ADA) had worked to ensure that these individuals have equal access to education, employment and housing, among other rights, legislation alone cannot alter how these individuals are viewed. As a result, there is a remaining need to educate people and to generate acceptance of these differences among the public.

Situational Analysis

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Influence of Social Learning in Children

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That Made A Curse A Gift”

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Lab exercise essay.

Part 1: Flow Chart

The above figure is a representation of the flow chart showing the chromosomes as they progress through cell cycle starting with G1 to S through to G2 to meiosis and cytokinesis.

G1 phase: The cell undergoes growth at this point

S phase: The cell makes replicates for its chromosomes. Each of the 10 chromosomes then is comprised of 2 sister chromatids.

G2 phase: The duplicated chromosomes are checked by the cell thereby getting them prepared to divide.

Looking Through Ethical Dilemmas From The Christian Point Of View Essay Samples

Abstract Human’s worldview is influencing their ethical decisions. But Christian ethics worldview - depends only on the Gods word, and that is the basics of their acting. In the paper we will look through the case problem “Abortions” and analyze what does Christians believe in this case, and how probably they would act in this kind of situations.

What in scenario makes it difficult to make a decision?

Good Example Of Down Syndrome & Malocclusion Literature Review

DOWN SYNDROME & MALOCCLUSION

Sample Presentation On Down Syndrome

I.Introduction

Genetic Disorders Course Work Samples

What is Down syndrome?

Down syndrome also known as Trisomy 21 is a chromosomal condition where a person possesses extra genetic material that is: an extra complete or fractional duplicate of chromosome 21. It is one of the most common birth defects. It affects 1 in 800 to 1 in 1000 live born infants. Close to half of all affected children develop heart defects right from birth (Goldstein 71).

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Good ethical dilemma essay example.

Implications of an Ethical Issue-Abortion

Introduction In one’s day to day life, decisions are made. These can be minor decisions like what to wear or major decision that has an impact on their life and that of others. When making these decisions people base their answers on a variety of understandings. Some of the basis of decisions includes morality or ethics from a Christian perspective. These two bases guide one in what is right and what is wrong using principles and beliefs previously formed. Abortion is one critical decision that can be supported and condemned using moral and ethical set standards.

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Equal Opportunities

Article Review On Obesity In Children With Down Syndrome

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Birth Problems and their Long Term Implications

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Imagine having a 50% chance of congenital heart disease; of being infertile and unable to have children. Think about having a statistically greater chance of acquiring a plethora of conditions, including epilepsy, leukemia and hearing loss. These are the everyday conditions of a select group of people who have been born with Down's Syndrome. This genetic condition is currently the most recognizable type of mental disability known to man, and is present in millions of individuals throughout the world. In this presentation, we will examine the symptoms of Down's syndrome, as well as the research into its management and treatment.

Essay On National Adult Literacy And Learning Disabilities Center Academy For Educational

This national resource, based in DC, offered people information on providing literary services, provided technical help in developing best practices for people creating literary programs for those with learning disabilities, and offered training for literacy program practitioners – very useful training for parents or teachers who want to know more about how to teach students with learning disabilities.

High Road Academy of Washington DC

Individualized, remedial programs for students with learning disabilities; integrates computer technology in all aspects of the program; focuses on improvement in auditory processing skills – effective means of teaching computer skills to those with LD.

Commonwealth Academy/Autism Service

Down Syndrome Course Work

Description of Down syndrome

Arguments Against Abortion Research Paper

Essay on developmental disabilities.

With the increased cases of behavioral, developmental and learning disabilities, it is very important for the parents, childcare providers and medical professional to understand clearly the causes and treatment of these disabilities in order to reduce their effects to those persons affected. This study analyses how developmental disabilities can be dealt with to reduce their effects.

Developmental Disability Diagnosis

275 words = 1 page double-spaced

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