Inherited diseases refers to any diseases caused by an abnormality in the genetic makeup of an individual. The genetic abnormality can range from minuscule to major from a discrete mutation in a single gene to a cross chromosomal abnormality involving the addition or subtraction of an entire chromosome or set of chromosomes. Inherited diseases in children are caused by genetic disorders.
Inherited Diseases In Children: Types of disorder
There are four types of genetic disorders:-
• Single gene inheritance:- When a certain gene is known to cause a disease, we refer to it as a single gene disorder or a Mendelian disorder. For example, you may have heard of cystic fibrosis, sickle cell disease, Fragile X syndrome, muscular dystrophy, or Huntington disease. These are all examples of single gene disorders.
• Multifactorial inheritance:- Common medical problems such as heart disease, diabetes, and obesity do not have a single genetic cause—they are likely associated with the effects of multiple genes in combination with lifestyle and environmental factors. Conditions caused by many contributing factors are called complex or multifactorial disorders.
• Chromosome abnormalities:- A chromosome disorder results from a change in the number or structure of chromosomes. Any deviation from the normal karyotype is known as a chromosome abnormality. While some chromosome abnormalities are harmless, some are associated with clinical disorders.
• Mitochondrial inheritance:- Mitochondrial diseases result from failures of the mitochondria, specialized compartments present in every cell of the body.
A genetic disorder may not be suspected unless there is a known family history, anomalies that cause suspicion are noted during an ultrasound, or there are known maternal factors that cause concern, such as an infection, drug ingestion, exposure to a teratogen, maternal health issues, and/or maternal.
There are some prenatal tests that may cause us to look further for a potential problem. Test that can cause us to suspect a problem are called screening tests. These tests reveal the possibility or risk of a problem, but they do not provide a specific diagnosis.
Things to remember before conceive the child :-
• Before you become pregnant you may want to do a few things to ensure your health is at its best. One thing you can do is make a routine physical examination appointment with your primary care provider.
• At this appointment you will want to verify that you are healthy, your immunization/vaccinations are up to date, review any prescription medications you are taking for safety during pregnancy, test for sexually transmitted diseases and seek treatment if you know you are already infected. You will also want to discuss with your physician your plans to conceive so that they can provide you with information related to pregnancy.
• A vitamin supplement recommended prior to conception that is not normally consumed in a sufficient quantity is folic acid. Folate/folic acid (the natural form of folic acid found in foods) is found in fortified grains and breakfast cereals, dried beans, orange juice and leafy greens. Synthetic folic acid is more easily used by the body than is folate, the natural form. There is no toxic level of folate. Folate is a B vitamin. Folic acid supplements should be taken for three months prior to the pregnancy and through the first trimester. To ensure that you are getting the daily recommended allowance of folic acid, take a prenatal vitamin daily.
• Stop smoking before conception or at least reduce the amount of smoking. The more a woman smokes, the greater the risk. Smoking during pregnancy is known to lead to pregnancy complications and serious health problems for the infant. Pregnancy complications can include placental problems such as placenta previa and placental abruption. Smoking can also increase the risk of premature rupture of the membranes, which may result in the birth of a premature infant.
Treatment of genetic disorder is completely dependent on the disorder or syndrome, the prognosis of the disorder and parental wishes. Some disorders have very short life expectancy for which treatment would not be beneficial. However, some children with genetic disorders can and do function well with normal life expectancy. Others can be variable depending on the associated birth defects.
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