Understanding Down Syndrome: Causes, Symptoms, and Management

Introduction to Down Syndrome

Down syndrome is a genetic disorder that occurs when there is an additional copy of chromosome 21. It leads to distinct physical features, intellectual disabilities, and various health issues. While it presents challenges, individuals with Down syndrome can lead fulfilling lives with the right support and understanding.

What is Down Syndrome?

An extra chromosome causes the disorder known as Down syndrome. In the body, chromosomes are discrete “packages” of genes. They control how a baby’s body develops during pregnancy and after birth, determining how it will look and work. A newborn typically has 46 chromosomes. One of these chromosomes, chromosome 21, has an extra copy in infants with Trisomy 21. Trisomy is the medical word for having an extra copy of a chromosome. Trisomy 21 is another term used to describe Down syndrome. The newborn may experience difficulties with their mental and physical development as a result of this additional copy, which alters how their body and brain grow.

When it comes to intellect, people with Trisomy 21 often have IQs that are in the mild-to-moderately low range and are slower to speak than other children.

Physical Feature of Down Syndrome

• A dropping face, particularly over the bridge of the nose
• Almond-shaped eyes with an upward slope
• A brief neck
• Tiny ears
• A tongue that frequently protrudes from the mouth
• On the iris (colored region of the eye), there are tiny white dots.
• Little feet and hands
• A single crease that runs horizontally across the palm of the hand
• Little pinky fingers that occasionally slant toward the thumb
• Having weak muscles or loose joints
• Toddlers and adults are shorter in height

Birth Estimation With The Disease

The most frequent chromosomal disorder identified in the US is still down syndrome. In the United States, roughly 6,000 newborns are born with this disease every year. This indicates that around 1 in 700 infants have Down syndrome.

Types of Down Syndrome

The three different varieties of titled disease. The physical characteristics and behaviors of each kind are frequently identical, making it difficult for people to distinguish between them without looking at the chromosomes.

Trisomy 21

About 95% of sufferers also have Trisomy 21.2 Instead of the typical 2 copies of chromosome 21, each cell in the body of a person with this kind of Down syndrome has 3 copies.

Translocation

This kind of ailment only makes up around 3% of all cases of the condition.2 This happens when an additional chromosome 21 is present, but it is not a distinct chromosome 21; rather, it is connected or “trans-located” to another chromosome.

Mosaic Down syndrome

About 2% of  sufferers are affected by this variety.2 Mosaic is a term for mixture or combination. Some of the cells in children with mosaic Down syndrome contain three copies of chromosome 21, while other cells have the standard two copies. The characteristics of other Down syndrome children may also apply to children with mosaic Down syndrome. However, because some (or many) of them have cells with a typical number of chromosomes, they could have fewer symptoms of the illness.

Causes and Risk Factors

Physical characteristics and developmental difficulties that might emerge in persons with Down syndrome are caused by the extra copy of chromosome 21. Researchers are aware that one extra chromosome causes Down syndrome, but they are unsure of the exact reason or the multiplicity of contributing elements.

The mother’s age is one factor that raises the chance of having a kid with Down syndrome. Compared to women who become pregnant at a younger age, women who are 35 years or older are more likely to have a pregnancy impacted by Down syndrome.3-5However, because there are so many more births among younger women, the majority of newborns with Down syndrome are born to moms under the age of 35.

Diagnosis of Down Syndrome

Screening tests and diagnostic tests are the two main categories of testing available to identify this disease during pregnancy. A screening test can inform the expectant mother and her healthcare practitioner of the likelihood of this disease in the baby. Although screening tests can not offer a definitive diagnosis, they are safer for the woman and the unborn child. Diagnostic tests can usually tell whether a baby will have Down syndrome or not, but they can also put the mother and growing infant at greater danger. Nobody can foresee the full effects of Down syndrome on a newborn; neither screening nor diagnostic techniques can do so.

Screening Tests

Screening tests sometimes combine an ultrasound, which produces an image of the baby, with a blood test, which counts the quantity of several compounds in the mother’s blood (e.g., MS-AFP, Triple Screen, Quad-screen). The fluid behind the baby’s neck is one of the items the technician examines during an ultrasound. A genetic issue might be indicated by extra fluid in this area. The results of these screening tests can be used to estimate the baby’s Down syndrome risk. Occasionally, screening tests may provide an abnormal result even when the infant is healthy. Even when the test findings are normal, they might still overlook a problem.

Diagnostic Tests for Down Syndrome

When a screening test results in a positive result, diagnostic testing are often carried out to confirm the diagnosis of Trisomy 21. Various diagnostic procedures include:

• Chorionic villus sampling (CVS)—looks at placental tissue
• Amniotic fluid (the fluid from the sac around the infant) is examined during amniocentesis.
• Blood from the umbilical cord is examined via percutaneous umbilical blood sampling (PUBS).

These examinations check for chromosomal abnormalities that could point to a diagnosis of this disease.

Other Health Issues in Down Syndrome

Numerous individuals with the disease have the typical facial characteristics and no other significant birth abnormalities. However, some individuals with Down syndrome may also have a number of serious birth abnormalities or other health issues. The following is a list of some of the most typical health issues that affect kids with Down syndrome.8

Loss of hearing

The most frequent type of hearing loss, conductive hearing loss, may be repaired with ear tubes and is brought on by an inner ear infection. In most cases, sensorineural hearing loss is permanent and less prevalent.

Sleep apnea in Down Syndrome

Due to their face form, limited airways to the nose and throat, and reduced muscular tone, people with DS are more prone to experience sleep apnea.

Infected ears

Children with DS are more prone to have upper respiratory tract infections, which increase the risk of persistent ear infections. Chronic ear illness is also predisposed by the face architecture of DS.

Eye conditions in Down Syndrome

Such as cataracts and other vision problems.

Congenital heart defects

Atrioventricular septal defect, patent ductus arteriosus, and tetralogy of Fallot are three of the most typical cardiac disorders encountered in children with DS.

Thyroid Disease Down Syndrome

It is estimated that between 39 and 61% of all individuals with DS have thyroid disorder, the most prevalent of which is hypothyroidism, which can cause delayed thinking, irritability, weight changes, and fatigue.

Alzheimer’s disease

According to the National Down Syndrome Society, Alzheimer’s dementia affects about 30% of persons with DS 50+.

Health professionals often check children with Down syndrome for various ailments.

Treatment of Down Syndrome

Down syndrome is a chronic illness. Early intervention services can frequently assist newborns and young children with this disease develop their physical and intellectual capacities. The majority of these programs are geared on promoting the complete development of kids with this disease. These treatments, which normally come under early intervention programs in every state, include speech, occupational, and physical therapy. Despite the fact that many of them are integrated in ordinary courses, children with Down syndrome may also require additional support or attention in the classroom.

Conclusion

In conclusion, it is critical to understand that people with this syndrome have a particular set of struggles and victories that have a tremendous impact on their life. These people frequently demonstrate unmatched tenacity and spirit that inspire and improve the lives of others around them, despite whatever obstacles they may encounter. We can jointly build a society that celebrates diversity and empowers every person, regardless of their skills or disabilities, by encouraging inclusion, offering appropriate support systems, and raising awareness. We can fight to create a culture that not only accepts but also celebrates the priceless contributions and innate value of every individual with Down syndrome via advocacy, instruction, and unfailing compassion.

To read more on my Alzheimer’s Disease blog click this link

[box] Some Down Syndrome Facts

• People with Trisomy 21 have an EXTRA copy of chromosome 21
• Learning sign language can HELP bridge the gap with a speech delay
• Hypothyroidism is common in those with Trisomy 21
• Down syndrome is the most common chromosomal disorder in the U.S.
• People with Trisomy 21 are NOT always happy
• We celebrate World Down Syndrome Day on March 21st
• The colors for Trisomy 21 are yellow & blue
• Approximately 25% of families in the U.S. know someone who has Down syndrome [/box]