Determining The Causal Relationship Between Advanced Maternal Age And Down Syndrome

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Determining The Causal Relationship Between Advanced Maternal Age And Down Syndrome


Down syndrome (DS) is the most common chromosomal anomaly associated with mental retardation. This is due to the occurrence of free trisomy 21 (92–95%), mosaic trisomy 21 (2–4%) and translocation (3–4%). Advanced maternal age is a well-documented risk factor for maternal meiotic nondisjunction. In India three children with DS are born every hour and more DS children are given birth to by young age mothers than by advanced age mothers. Therefore, detailed analysis of the families with DS is needed to find out other possible causative factors for nondisjunction. We investigated 69 families of cytogenetically confirmed DS children and constructed pedigrees of these families. We also studied 200 randomly selected families belonging to different religions as controls. Statistical analysis was carried out using logistic regression. Out of the 69 DS cases studied, 67 were free trisomy 21, two cases were mosaic trisomy 21 and there were none with translocation. The number of DS births was greater for the young age mothers compared with the advanced age mothers. It has also been recorded that young age mothers (18 to 29 years) born to their mothers at the age 30 years and above produced as high as 91.3% of children with DS. The logistic regression of case- control study of DS children revealed that the odds ratio of age of grandmother was significant when all the four variables were used once at a time. However, the effect of age of mother and father was smaller than the effect of age of maternal mother. Therefore, for every year of advancement of age of the maternal mother, the risk (odds) of birth of DS baby increases by 30%.Besides the known risk factors, mother’s age, father’s age, the age of the maternal grandmother at the time of birth of the mother is a risk factor for the occurrence of Down syndrome.

Table Of Content

Preliminary Page(s)

  • Title Page
  • Declaration
  • Approval
  • Dedication
  • Acknowledgement
  • Abstract
  • Table of Content

Chapter One

1.0 Introduction

  • 1.1 Background of Study
  • 1.2 Statement of Problem
  • 1.3 Research Questions
  • 1.4 Objectives of Study
  • 1.5 Hypotheses
  • 1.6 Significance of Study
  • 1.7 Scope of Study

Chapter Two

2.0 Literature Review

  • 2.1 Introduction
  • 2.2 Factors Affecting the Risk of Down Syndrome
  • 2.3 Physiological Factors
  • 2.4 Environmental Factors
  • 2.5 Prevalence of Down Syndrome

Chapter Three

3.0 Methods

  • 3.1 Ds Cases
  • 3.2 Control Population
  • 3.3 Establishment of Genetic Register and Pedigree
  • 3.4 Statistical Analysis

Chapter Four

4.0 Results and Discussion

  • 4.1 Results
  • 4.2 Discussion

Chapter Five

5.0 Conclusion and Recommendation

  • 5.1 Conclusion
  • 5.2 Recommendations
  • References

Chapter One

1.0 Introduction

1.1 Background of Study

Down syndrome is a genetic disorder caused when abnormal cell division results in an extra chromosome 21.This genetic disorder, which varies in severities cause lifelong intellectual disability and developmental delays and, in some people, it causes health problems. Down syndrome is the most common genetic chromosomal disorder and cause of learning disabilities in children.

Better understanding of Down syndrome and early intervention can greatly increase the quality of life for children and adults with the disorder and help them live fulfilling lives; although it has no cure (Mayo Clinic, April 19, 2014).
This syndrome took its name from John Langdon Down, an English physician who in the late 19th century was able to publish an accurate description of a person with this syndrome hence the name Down syndrome.

There are certain characteristics associated with this syndrome such as:

  • Low muscle tone
  • Small stature
  • An upward slant to the eyes
  • A single deep crease across the centre of the palm
  • Flattened facial profile
  • Heart problem
  • Respiratory problems among others.

It is more than 75 years now, since maternal age effect in Down syndrome was discovered and 50 years since the genetic background in Down syndrome involving an extra chromosome 21 material was identified.

Down syndrome is a genetic syndrome occurring in from 1 in 650 to 1 in 1000 live births. In 95% of cases, Down syndrome is caused by non-disjunction during cell division, with mothers contributing the extra chromosome in 85% cases. When this disjunction occurs after fertilization it leads to Down syndrome where one line of cells in the developing fetus contains an extra copy of chromosome 21 and the second line of cells in the developing fetus does not.

Risk for Down syndrome is associated with maternal age. Children with Down syndrome are impaired in verbal processing and expressive language (Fidler, 2008).

In recent years between the 19th century and the 20th century the number of babies born with Down syndrome increased about 30%. Older mothers are likely to have babies affected by Down syndrome than younger mothers. In other words the prevalence of Down syndrome increases as the mother’s age increases.

The actual cause of this syndrome is idiopathic although, maternal age and paternal age are factors that have been linked to an increased chance of having a baby with this syndrome. However due to higher birth rates in younger women which could also be a predisposing factor, 80% of children with Down syndrome are born to women who are advanced in age.

The additional partial or full extra chromosome 21 can originate either from the mother or father. Approximately 5% of cases have been traced to the father. Down syndrome is no respecter of race or economy. In Down syndrome, only 1% of all cases occur as a result of translocation (hereditary) it occurs sporadically and maternal age cannot be linked to the risk of translocation. The risk of a mother having a baby with Down syndrome rises dramatically after she reaches 35 years of age.

A woman is born with all of the eggs (ova) she will ovulate with for the rest of her life. So if one is 30 years when one conceives, then the egg (ova) one conceived with is also 30 years old; this is applicable to all age group over 35 years. As the eggs (ova) age, the more likely they are to have errors that can result in trisomies including trisomy 21 (Down syndrome) (Kathleen, 2016).

Advanced maternal age is a risk factor for Down syndrome. This risk factor reaches 3.6% of live births when mother’s age is around 44 years. It cannot be prevented but can be detected before the child is born.

A woman’s chance of giving birth to a child with Down syndrome increases with age because older eggs (ova) have a greater risk of improper chromosome division (Mayo Clinic, 2014).As a woman ages, her fertility that is, the chance she will get pregnant is reduced. On average, this decline begins slowly in the early thirties and speeds up in the late thirties and forties (Rowe, 2008).

1.2 Statement of Problem

The researcher observed that more often than not, more children are coming down with trisomy 21, especially to mothers who are elderly (advanced in age).However, ignorance tends to play a major role. Hence the researcher wants to investigate on the relationship between advanced maternal age and Down syndrome and the possible ways of creating awareness because this syndrome predisposes babies born to advanced mothers to numerous pathological disorders.

1.3 Research Questions

  1. How knowledgeable are the residents of Busa Buji community about Down syndrome?
  2. How knowledgeable are the residents of Busa Buji community about the causes of Down syndrome?
  3. What is the prevalence rate of Down syndrome?
  4. What is the best means of disseminating information on the cause of Down syndrome?
  5. What are the ways of enforcing early and curtailed child bearing?

1.4 Objectives of Study

The main objective of this study is to determine the causal relationship between advanced maternal age and Down syndrome in Busa Buji community, Jos North, plateau state. The main objectives will be achieved through the following specific objectives which include:

  1. To assess the level of knowledge of the residents of Busa Buji community on Down syndrome.
  2. To determine the level of knowledge/ awareness of the residents of Busa Buji street on the cause of Down syndrome
  3. To determine the prevalence rate of Down syndrome.
  4. To educate the residents of Busa Buji community to gain full knowledge of Down syndrome and its relationship to advanced maternal age.
  5. To enforce the need for early and curtailed child bearing.

1.5 Hypotheses

  • HO1: There is no significant relationship between advanced maternal age and down syndrome.
  • HA: There is a significant relationship between advanced maternal age and down syndrome

1.6 Significance Of Study

To heighten the awareness of health planners in the community that have for a long time considered haemoglobinopathies to be the major genetic disorder and that Down syndrome is also a major genetic disorder. In order to prepare the ground for prevent measures which will provide a baseline for further research work.

This will create awareness to all ambitious ladies n Busa Buji community, Jos, North, Plateau state; that while pursuing education to the highest level as well as other things, child bearing should be put into consideration while one is not yet advanced in age.

1.7 Scope Of Study

This study is focused mainly on 100 respondents in Busa Buji community, Jos North, Plateau state on the Relationship between Advanced Maternal Age and Down Syndrome.

Chapter Five

5.0 Conclusion And Recommendation

5.1 Conclusion

Down syndrome is the most frequent chromosomal disorder known in the human being. The prevalence and incidence of this dis- order showed marked heterogeneity all over the world depending on many factors which are different from one part of the world to another according to local circumstances in these countries. The rate of the disorder is in continuous dynamic changes related to the modifications of the cofactors, with higher rates in countries where antenatal screening is not available in an acceptable level. Application of antenatal screening, termination of the affected pregnancy and the maternal age are among the most important factors affecting both the incidence and the prevalence of the disorder.

5.2 Recommendations

Age of the maternal mother at the time of birth of the mother is a risk factor for the occurrence of Down syndrome, as is the age of the mother, and the father and consanguineous marriage as previously established.

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