The mutation of genes leads to genetic disorders in humans. The disorders are passed to the baby from either or both their parents as per a specific inheritance pattern.
Although carrying a certain mutation doesn’t always mean your child will be suffering from a certain disease. Other factors include the gene involved, on which chromosome it is, and other multifactorial reasons. Suppose you do not know any pediatrician who would help you in understanding the genetic disorder in your baby. In that case, you can search for “best pediatrician in Kochi” and know more about the disorder from the nearest specialist in Kochi Kerala. Here we will discuss in depth about genetic disorders and know about its transmission.
What are Genetic disorders?
Genetic disorders are caused when a harmful change to the gene (pathogenic variant) takes place when a wrong amount of gene is passed to the child from the parent. A factor called DNA (deoxyribonucleic acid) makes up the genes. This DNA instructs the cell to function and this characteristic makes every child/person unique. One half of the genes are received from each biological parent and you may inherit gene mutation from either one parent or both. Sometimes due to issues within the DNA the genes undergo harmful changes. This change increases the risk of genetic disorders which may be visible from birth or may develop later in life.
Few of the genetic disorders arise due to:
Chromosomal disorder: In this kind of disorder, people either have duplicate chromosome material or have some missing chromosomes. The structure that holds the DNA within each cell is affected.
Multifactorial disorder: This disorder arises due to extreme lifestyle carelessness like, tobacco use, diet, chemical exposure, alcohol use. The problem arises due to multiple gene mutations caused because of above stated issues.
Single-gene (monogenic disorder): As the name suggests, it occurs due to single gene mutation.
What leads to genetic disorder in children?
As we know the DNA instructs the body. The instructions are nothing but to generate protein in the body. The protein that is generated keeps us healthy by starting complex cell interactions. Mutation is thus a hindrance caused to the instructions to make protein. The protein in the body could be missing or once that is present may not function adequately.
There are other environmental factors like mutagens that lead to genetic disorder such as
- Chemical exposure
- Radiation exposure
- Exposure to UV rays
What are the symptoms of genetic disorder in Children?
If you have passed genetic disorder in Children, you will see the following disorders:
Developmental delays: the child may not be able to perform the basic activities, such as crawling and walking at the age when other kids do. They may have social skills issues and later may have problems with reading or speech.
Loss of senses: Child may lose the basic sense of smell, vision, or swallowing food or loss of hearing.
Abnormalities in body structure: You may notice abnormality in the body structure, facial structure, limbs such as missing fingers etc. you may notice cleft lip and palate.
Eating issues: Children may have issues in eating or digestive problems, there may be problems with swallowing or the body would be unable to process any nutrients.
Cognitive defects: As the brain doesn’t function correctly, it may also lead to behavioural changes or disturbances, breathing problems, muscle stiffness, poor growth etc.
What are the different ways to identify Genetic Disorders in Children?
To understand the genetic disorder in children you may need to conduct a few lab tests. You can also consult genetic counselors who will guide you about the risks and the steps that you would need to take to overcome the problem. Lab tests generally show the mutations that have occurred in your body for the condition that you are suffering. Although carrying any mutations doesn’t necessarily mean you will suffer from any genetic disorder.
Carrier testing: This kind of testing should be undertaken by all couples planning to have a baby irrespective of any genetic disorder history. This test identifies if you or your partner is carrying any mutated gene that would lead to genetic disorder.
Prenatal Screening: This test is taken by pregnant women to understand if their unborn child is suffering from any genetic disorder. This is a blood test from the pregnant woman to understand common chromosome conditions in the fetus.
Prenatal diagnostic testing: This test is done by taking the amniotic fluid from the womb of the pregnant mother and understanding whether the fetus is at high risk of any genetic disorder.
Newborn screening: In few countries like Ohio this test is performed, where the blood of the baby is taken after he/she is born. Early diagnosis of any genetic disorder can help in curing the problem or at least stop it from spreading further.
In case if your child is detected with any genetic disorder, there are some treatments;
- Chemotherapy to reduce any abnormal growth in the body
- Dietary supplements
- Speech therapy or physiotherapy
- Blood transfusion
- Organ transplant
Fearing genetic disorder and avoiding conceiving isn’t always a solution. It is always better to consult your counselor or get the tests done to know the risks. If you are from Kerala and if you have missed doing these screenings before pregnancy, you can consult a pediatrician in Kochi who can guide you about any genetic disorder in your baby.