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Review on Down Syndrome in Newly Born Babies

Pravallika S*

Srinivasa Pharmaceutical Institute and Center for Research, Telangana, India.

*Corresponding Author:
Pravallika S
M. Pharm
Srinivasa Pharmaceutical Institute and Center for Research
JNTUH, Telangana, India
Tel: 9505727310
E-mail: [email protected]

Received Date: 15/07/2016; Accepted Date: 22/07/2016; Published Date: 29/07/2016

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Down syndrome is a chromosomal anomaly that occurs in about 1 out every 700 births. The risk of having a baby with the condition is greater in women who are older than 35. But the majority of babies with Down syndrome are born to mothers younger than 35 simply because younger women are more likely to have babies than older women. In Down syndrome, an inexplicable error in cell development results in 47 chromosomes (rather than the usual 46) and the extra gene material slightly changes the orderly development of the body and brain.


Down syndrome, Chromosome, Thyroid, Surgery.


In General each cell in the human body there is a nucleus, where hereditary material is put away in qualities. Qualities convey the codes in charge of the greater part of our acquired characteristics and are assembled along bar like structures called chromosomes. Commonly, the nucleus of every cell contains 23 sets of chromosomes, half of which are acquired from each parent. Down syndrome happens when an individual has a full or halfway additional duplicate of chromosome 21 [1-5].

Down syndrome (DS or DNS), otherwise called trisomy 21, is a hereditary issue brought on by the nearness of all, or part of a third duplicate of chromosome 21. It is normally connected with physical development delays, trademark facial components, and mellow to direct intelligent inability. The normal IQ of a youthful grown-up with Down syndrome is 50, proportional to the mental age of an 8-or 9-year-old kid, yet this can shift broadly [6-11].

This extra hereditary material changes the course of improvement and causes the attributes connected with Down syndrome. A couple of the normal physical attributes of Down syndrome are low muscle tone, little stature, an upward inclination to the eyes, and a solitary profound wrinkle over the focal point of the palm - albeit every individual with Down syndrome is an extraordinary individual and may have these qualities to various degrees, or not in any manner [12-20].

English doctor John Langdon Down initially portrayed Down syndrome as a different type of mental disability in 1862 and in an all the more broadly distributed report in 1866. In the twentieth century, numerous people with Down syndrome were standardized; few of the related restorative issues were dealt with, and most passed on in early stages or early grown-up life. With the disclosure of karyotype strategies in the 1950s, it got to be easy to recognize irregularities of chromosomal number or shape. In 1959, Jerome Lejeune reported the disclosure that Down syndrome came about because of an additional chromosome [21-28].

Types of Down Syndrome

In general there are 3 types of Down syndrome they are trisomy 21 (nondisjunction), translocation and mosaicism.

Trisomy 21 (Nondisjunction)

Down syndrome is normally brought about by an error in cell division called "nondisjunction." Nondisjunction results in a fetus with three duplicates of chromosome 21 rather than the standard two [29]. Before or at origination, a couple of 21st chromosomes in either the sperm or the egg fail to separate. As the fetus builds up, the additional chromosome is replicated in each cell of the body. This sort of Down syndrome, which represents 95% of cases, is called trisomy 21.


Mosaicism (or mosaic Down syndrome) is analyzed when there is a blend of two sorts of cells, some containing the standard 46 chromosomes and some containing 47 [30]. Those cells with 47 chromosomes contain an additional chromosome 21.

Mosaicism is the rarest type of Down syndrome and records for just around 1% of all instances of Down syndrome. Research has shown that people with mosaic Down syndrome may have less qualities of Down syndrome than those with different sorts of Down syndrome. In any case, expansive speculations are unrealistic because of the extensive variety of capacities individuals with Down syndrome process [31-38].


In translocation, which represents around 4% of instances of Down syndrome, the aggregate number of chromosomes in the cells remains 46; in any case, an extra full or fractional duplicate of chromosome 21 combines to another chromosome, generally to chromosome 14. The nearness of the additional full or fractional chromosome 21 causes the qualities of Down syndrome [38-47].

The most common features associated with Down syndrome

A few kids display just a couple of attributes; others show numerous. Since some of these components are additionally found in individuals without Down syndrome, Genetic testing must be done to affirm the conclusion [48-53].

The most widely recognized Features connected with Down syndrome include:

• Low muscle tone (babies seem "floppy")

• Upward inclination to the eyes

• Small skin folds on the inward corner of the eyes

• Small, anomalous molded ears

• Single profound wrinkle over the focal point of the palm

• Hyper flexibility (over the top capacity to expand joints)

• Fifth finger has stand out flexion wrinkle rather than two

• Extra space between the enormous toe and the second toe

• Enlarged tongue that tends to stand out

• Flat facial elements, with a little nose

Other health problems associated with Down syndrome

About 50% of children with Down syndrome are likewise conceived with heart deformities. Some of these heart deformities are major, and the may encounter heart failure soon after birth. Be that as it may, not all heart deformities appear immediately [54,55]. Therefore, all babies with Down syndrome ought to have an echocardiogram inside the initial couple of months of life to check for heart issues. The minor deformities might be cured with medications while the major ones may require surgery [56].

Individuals with Down syndrome likewise have more hormonal issues than the general public. Around 10% of infants conceived with Down syndrome and 50% of adults with Down syndrome have thyroid sickness [57-66]. The most widely recognized thyroid condition is hypothyroidism, moderating of the thyroid organ. Hypothyroidism can be treated with medication.

More than a large portion of the kids born with Down syndrome likewise have visual issues, for example, crossed eyes, partial blindness, farsightedness or cataracts. Much of the time, these issues can be treated with glasses or surgery [67-71].

People with Down syndrome have a 15-20 times more serious danger of leukemia (despite the fact that it is still uncommon), which by and large starts in the initial three years and has a high cure rate. A temporary type of leukemia is found in the infant time frame that resolves within a few months of life [72-79].

Roughly 10%-12% of infants conceived with Down syndrome likewise have variations from the norm in the gastrointestinal tract that requires surgery for adjustment.


Diagnosis of Down syndrome in new conceived infants is performed regularly taking into account the child's appearance. Be that as it may, the elements connected with Down syndrome can be found in children without Down syndrome, so your medicinal services supplier will probably arrange a test called a chromosomal karyotype. Utilizing an example of blood, this test dissects your kid's chromosomes. On the off chance that there's an additional chromosome 21 present in all or a few cells, the analysis is Down syndrome [80-88].

Kids with Down syndrome are regularly distinguished during childbirth as an aftereffect of the physical qualities connected with the syndrome [89,90].

A few kids show just a couple of qualities; others display numerous. Since some of these elements are likewise found in individuals without Down syndrome, hereditary testing must be done to affirm the determination.


Treatment for Down syndrome concentrates on ensuring that child has regular medical checkups, helping your kid create, looking for early indications of health issues, and finding support. With treatment and you can help your youngster carry on with a healthy and happy life [91-98].

The child may have health issues identified with Down syndrome, for example, ear contaminations, dental issues, or behavior issues. He or she may require: Medicines, such as, antibiotics for ear diseases and thyroid hormones for an underactive thyroid organ (hypothyroidism). Surgery to right issues, for example, heart impairment, bowel problems, or spinal issues [99].

Diverse sorts of treatment, for example, speech therapy, nutritional advice from a registered dietitian, or counseling for behavior problems are available. Enroll your young child (infant through age 3) in an early-medication program. These programs have staffs that are trained to monitor and encourage your child's development [100].

Make the child to learn, mingle, and be physically active. For instance, engage the kid in classes with other kids of the same age. Consider ways you can make the child reasoning abilities without making assignments excessively troublesome. In any case, realize that it is alright for your kid to be tested.