What You Should Know About Down Syndrome

About 1 in 700 babies are born with Down Syndrome. But having this condition isn't a life sentence for both the child and his parents.

The quality of life for children and adults with this condition can be significantly improved, and early interventions can help them lead fulfilling lives.

What Is Down Syndrome?

Down syndrome, a genetic disorder, is caused by the production of extra genetic material (47 chromosomes instead of the normal 46). This happens when abnormal cell division results in an extra full or partial copy of chromosome 21. Developmental abnormalities and physical characteristics of Down syndrome are brought on by this excess genetic material.

This condition causes physical and mental delays and is a life-long condition. In some cases, it also causes health issues.

The severity of the condition varies but if intervention is done early, the child can live a happy life.

Autism vs Down Syndrome

Autism spectrum disorder (ASD) and Down syndrome are two distinct medical diseases. However, those with Down syndrome, Rett syndrome, and other genetic diseases are more likely to have ASD. One in six persons with Down syndrome has it, compared to one in 44 children in the general population, or about 16 per cent of those with the condition.

Down Syndrome Symptoms

Individuals with this condition might have mild, moderate, or severe intellectual and developmental issues. While some people have substantial health issues, including serious heart defects, others are in generally good health.

Both Down syndrome children and adults have distinctive facial characteristics. Although not all individuals with Down syndrome share the same characteristics, some of the more typical ones are as follows:

Physical traits: Face

• Small head
• Upward slanting eyes that may also have specks or spots on the iris
• The appearance of a deflated nasal bridge
• Small ears that are usually set low on the head
• The unusual shape of the mouth (palate may curve downward) and tongue (may slightly protrude)
• Teeth are crooked or have an irregular shape. A child with Down syndrome may experience a delay in tooth formation that doesn't usually come out in the same order as other children's.

Physical traits: Body

• Short height. A child with this condition experiences a slower growth rate. He also will grow up shorter than the average adult.
• Hypotonia, also know as floppy baby syndrome, is when muscle tone in the body is low. This results in, for example, the appearance of a tummy sticking out.
• Wide, short neck that may also have excess skin and fat.
• Limbs that are short and stocky.
• Hands that are broad and have one crease on the palm
• Flexibility

Infants that have Down syndrome appear to be average-sized. But later on, their slow physical growth will become apparent. Also, because it causes delayed development, developmental milestones will not appear at the same rate as it would for kids who do not have the condition.

Health issues

Unfortunately, Down syndrome causes the following problems:

• Mental disability - most children will experience a cognitive disability that is mild to moderate
• Heart defects
• Celiac disease
• Hypothyroidism
• Eye conditions
• Respiratory infections
• Hearing problems
• Dental problems
• Depression
• Behaviour associated with autism or ADHD

Why Do People With Down Syndrome Look Alike?

They share characteristics because of extra genetic material that influences the development of the cranial neural crest, which is the name for the bone, cartilage, and connective tissue that makes up the skull's maxilla (part of the skull). It produces typical characteristics like smaller heads and eyes with an almond shape.

Down Syndrome Baby

Although babies with Down syndrome may be of ordinary size, they often grow slowly and stay smaller than children of the same age.

What Causes Down Syndrome?

There are typically 23 pairs of chromosomes in human cells. Each pair of chromosomes contains one from your mother and one from your father.

Abnormal cell division involving chromosome 21 causes Down syndrome. These abnormalities in cell division lead to an additional whole or partial copy of chromosome 21. The distinctive traits and developmental issues of this condition are brought on by this additional genetic material. Down syndrome can result from any one of three genetic variations:

Trisomy 21

This is the most common type. It's when a child has three copies of chromosome 21 instead of the standard two. This results from sperm or egg cell development that results in abnormal cell division.

• Women aged 35 and above are more likely to have a child with genetic disorders. The older a woman gets, the higher the chances are
• A woman who already has a child with down syndrome

Mosaicism

This rare type of Down syndrome causes an abnormal cell division that occurs post-fertilisation.

A person with this uncommon type of Down syndrome only has a few cells with an extra copy of chromosome 21. After conception, aberrant cell division results in a mosaic of normal and defective cells.

Translocation Down Syndrome

This is the type of down syndrome that is randomly passed through families. Additionally, down syndrome can develop before or during conception if a piece of chromosome 21 translocates (attaches to another chromosome).

These kids have two copies of chromosome 21 as usual, but they also contain additional chromosome 21 genetic material linked to another chromosome.

Probable carriers are those with relatives and/or children with the condition.

Risk Factors

Some parents are more likely to give birth to a child who has Down syndrome. Risk factors consist of:

• Increasing maternal age
  The likelihood that a mother may give birth to a child with Down syndrome rises with age because older eggs are more likely to undergo an incorrect chromosomal division. After age 35, a woman's chance of having a child with this condition rises. However, because younger women give birth to more kids, the majority of children with Down syndrome are born to mothers under the age of 35.
• Being carriers of the genetic translocation for Down syndrome.
  The genetic translocation for Down syndrome can be passed on to offspring by both sexes.
• Having had one child who has Down syndrome.
  A child with Down syndrome is more likely to be born to parents who already have one and to parents who themselves have a translocation. Parents can analyse the possibility of having a second child with this condition with the aid of a genetic counsellor.

Complications Related to Down Syndrome

Numerous issues can affect people with Down syndrome, some of which exacerbate as they age. These issues can occur because of:

1. Heart conditions
   Congenital cardiac defects affect about half of Down syndrome patients at birth. These potentially fatal heart conditions might call for surgery as early as the first few months of life.
2. Gastrointestinal (GI) defects
   Some children with Down syndrome experience GI abnormalities, which can include oesophagal, gastrointestinal, tracheal, and anus abnormalities. There may be a higher chance of having digestive issues such as GI obstruction, heartburn (gastroesophageal reflux), or celiac disease.
3. Immune system issues
   People with Down syndrome are more likely to develop autoimmune diseases, some types of cancer, and infectious diseases including pneumonia because of abnormalities in their immune systems.
4. Sleep apnea
   Children and adults with Down syndrome are more likely to develop obstructive sleep apnea because of soft tissue and skeletal alterations that cause their airways to get blocked.
5. Obesity
   Compared to the overall population, those who have this condition are more likely to be obese.
6. Spinal issues
   The top two vertebrae in the neck may be out of alignment in certain individuals with Down syndrome (atlantoaxial instability). Due to their condition, they are at danger for catastrophic spinal cord damage from neck overextension.
7. Leukemia
   Down syndrome in young children increases the risk of leukaemia.
8. Dementia
   The first indications and symptoms of dementia in people with this condition may appear around age 50. Alzheimer's disease is more likely to occur in people with this condition.

Other problems
Other medical ailments, like as endocrine issues, dental issues, seizure disorders, ear infections, and issues with hearing and vision, may also be linked to down syndrome.

Down Syndrome Life Expectancy

The average life expectancy of those with Down syndrome has significantly increased. Today, a person with Down syndrome can anticipate living for over 60 years, depending on how serious their health issues are.

Tests for Down syndrome

Tests after birth

As mentioned earlier, physical symptoms of down syndrome will not immediately manifest. A doctor might order to take a blood sample for chromosomal analysis.

How To Check Down Syndrome During Pregnancy

You can15 weeks.

The two types of tests during pregnancy are:

• Screening. This only determines the probability of the foetus having the condition. If the test returns negative results, it's not an assurance that the fetus will be free of down syndrome. For more definitive results, the doctor may request diagnostic screening.
• Diagnostic. This determines whether or not a baby has the condition. Diagnostic procedures are effective in identifying Down syndrome and other chromosomal issues.

  Nevertheless, there is a chance of miscarriage and other difficulties because this procedure involves obtaining some of the baby's cells while it is still inside the uterus.

However, it's important to remember that there will always be some degree of uncertainty when it comes to predicting whether or not your baby has Down syndrome.

How To Prevent Down Syndrome

Down syndrome cannot be prevented. However, screening tests can be done to determine the probability of a child having the condition. This way, parents can prepare.

A genetic counsellor should be consulted before becoming pregnant if you are highly likely to have a kid with Down syndrome or if you currently have a child who has the condition.

You can learn more about your likelihood of becoming pregnant with a Down syndrome child from a genetic counsellor. Additionally, he or she can discuss the different prenatal tests with you and help you weigh their benefits and drawbacks.

Treatments and Drugs

Down syndrome is incurable. Early intervention programmes can aid in skill development. Speech, physical, occupational, and/or educational therapy are a few examples. Many people with Down syndrome lead happy, fruitful lives with assistance and treatment.

Early intervention will help a child with this condition through stimulation to improve cognitive, motor and sensory skills.

Because Down syndrome causes many health complications, it will be best to have regular checkups with several types of doctors - cardiologists, gastroenterologists, developmental paediatricians, neurologists, endocrinologists, and ophthalmologists - to ensure that early signs of health problems are spotted and treated accordingly.

Other specialists you will likely work with are audiologists, physical therapists, speech therapists and occupational therapists.

Coping With Down Syndrome

Support and encourage your child until he has mastered some skills such as walking or eating by himself. As he ages, encourage him to make friends. Give him chores he can do at home. This will help teach him independence and allow him to experience self-fulfilment.

Take into account the following actions as you get ready and provide for your child:

• Enquire about local initiatives for early intervention with your healthcare physician.

These unique programmes, which are accessible in the majority of states, provide stimulation to newborns and young children with Down syndrome at an early age (usually until age three) to aid in the development of motor, language, social, and self-help abilities.

• Research your school's educational alternatives.

That can entail enrolling in mainstreaming (normal classes), special education classes, or a combination of the two, depending on your child's needs. Work with the school to comprehend and pick the best solutions based on the advice of your medical team.

• Look for other families going through the same things.

Support groups for parents of children with Down syndrome are common in most communities. Additionally, online support groups are accessible. Support and understanding can also come from family and friends.

Look for other families that have children with Down syndrome or search for online groups or communities. This ensures that you and your family receive emotional support, too.

• Engage in social and recreational activities.

Make time for family outings and search your neighbourhood for social events like sports teams, ballet lessons, or park department programmes. Both children and adults with this condition can participate in social and leisure activities, however, certain modifications might be needed.

• Promote independence.

Although your child's talents may not be the same as those of other kids, with your help and some experience, your child might be able to carry out chores like packing a lunch, taking care of personal hygiene and getting dressed, and even performing some light cooking and laundry.

• Get ready for the transition to adulthood.

Before your child leaves school, you can research opportunities for living, earning, and engaging in social and recreational activities. After high school, community employment, day programmes, or workshops as well as community living or group homes require some advance preparation. Inquire about locally available possibilities and resources.

Count on a promising future. The majority of persons with Down syndrome are independent or live with their family, attend public schools, can read and write, are involved in their communities, and have careers. With the right support, your child can also lead a happy and fulfilling life. 

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