Down syndrome is a hereditary disarray that causes mental retardation and other illness. It is a mixture of physical abnormalities and psychological retardation which has a genetic defect in chromosome pair 21. It is called so because of the British doctor John Langdon Down, who first explored it in 1866. The condition fluctuates in severity, so struggle for development may vary from mild to serious. Around 1 in 800 to 1 in 1,000 babies are born with this chaos. Life expectancy among adults with Down syndrome is about 55 years approximately.

 There are 23 chromosomes in egg and sperm cells of human. The rest of cells usually contain 23 pairs of chromosomes — one from  father and one from  mother. Kids with Down syndrome typically have 3 copies of chromosome 21 — known as trisomy 21 — in the place of two copies.

Human cells usually has 23 pairs of chromosomes. One chromosome in each pair comes from father, the other from mother. Down syndrome is caused by 3 types of abnormal cell division linking 21st chromosome. All 3 defects and its outcome is extra genetic material from chromosome 21, which causes Down syndrome. The 3 genetic variations are:

1. Trisomy 21: Above 90 % of Down syndrome are the result of trisomy 21. A infant with trisomy 21 has 3 copies of chromosome 21 — in the place of the typical 2 copies. is caused by irregular cell division while sperm or the egg cell develops.

2. Mosaic Down syndrome: It is a rare form, where infants have some cells with an extra copy of chromosome 21, but not all. This mosaic of normal and abnormal cells is caused by abnormal cell division after fertilization.

3. Translocation Down syndrome: It also occurs when part of chromosome 21 gets attached to a different chromosome, before or at conception.

Signs and Symptoms

Children with Down syndrome have a dissimilar facial look. Though all patients  do not have the same features, some general characteristics that can be listed are:

1. Flattened facial features

2. Protruding tongue

3. Small head

4. Upward slanting eyes, unusual for the child’s ethnic group

5. Unusually shaped ears

Children with Down syndrome may also have:

1. Poor muscle tone

2. Broad, short hands with a single crease in the palm

3. Relatively short fingers

4. Excessive flexibility

5. Baby born with this illness may be of normal size, but usually their development is slow and stay behind in growth compared to than other children of same age. They are also mental retarded to some extent, typically from mild to moderate

Is it inherited?

Most of the time it is not inherited. They’re caused by a error in cell division while egg, sperm or embryo development. The diagnosis is based on clinical appearance and genetic testing.

Screening tests during pregnancy
Diverse screening tests can aid in identifying the probability of developing Down syndrome. Conventionally, blood tests — such as quad screen or maternal serum alpha-fetoprotein (MSAFP) test — were advised around the 16th week of pregnancy

First-trimester screening is done in two parts:

Ultrasound: It is used to gauge a specific region on the back of a baby’s neck, called nuchal translucency screening test. Babies with certain abnormalities have a propensity of accumulating more fluid in this tissue than otherwise usual.

Blood tests: To measure the levels of pregnancy  associated plasma protein A (PAPP-A) and a hormone called as human chorionic gonadotropin (HCG).

Diagnostic tests for newborns

After birth, the primary diagnosis depends on the baby’s appearance. If child exhibit some or all of the features of illness, it is advised for chromosomal karyotype test. To analyse extra chromosome 21 present in all or some of the cells.

Complications

1. Heart defects: Roughly 50 % of Down syndrome children some type of heart defects are been found. It may be life-threatening and may need surgery at early childhood.

2. Infectious diseases: Due of defect in their immune system, they are more vulnerable to infectious illness. In particular, risk of pneumonia is much higher that others.

3. Dementia: Later in life, people with Down syndrome have a greatly increased risk of dementia. Signs and symptoms of dementia often appear before age 40 in people with Down syndrome.

4. Other problems. Down syndrome may also be connected with a multiple illness, including gastrointestinal blockage, thyroid problems, hearing loss or poor vision.

Treatment

Down syndrome cannot be cured medically. Yet, there is a medical aid for children with down syndrome at early interventions, starting in infancy.

Prevention

There’s no root to prevent Down syndrome. Indeed Down syndrome infected child can typically do most things that any young child can do, such as walking, talking, dressing and being toilet-trained. Nevertheless, they usually take more time to learn the same. At present, there are more prospects than earlier which includes schooling, jobs and social relationships.

Dr. C. Sharath Kumar
Director and Chief Fertility Surgeon
Mediwave I.V.F & Fertility Research Hospital
Mysore-570 021
Phone: 0821-2444441/3265002

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A congenital anomaly or birth defect is an abnormal physical change or health problem present in a baby when he/she is born. Birth defects can range from mild to severe and can cause a single problem or problems in different organs and body systems. While some birth defects are not curable, such as thinking or learning problems, treatment of physical birth defects is possible through surgery.

To be more specific, the genetic defect is a category of disease that includes specific types of chronic diseases, birth defects, sensory deficits, and developmental problems that are inherited from parents.

Types of genetic defects

Birth defects

• Cataracts
• Congenital heart disease
• Cleft palate or lip
• Diaphragmatic hernia
• Contractures
• Genital malformations
• Misshapen skull
• Glaucoma
• Missing toes or fingers
• open spine defects or Spina bifida
• incomplete or missing legs or arms

Chronic diseases

• Childhood cancers
• Bleeding disorders
• urinary tract or Kidney disease
• short stature or slow growth
• Cystic fibrosis
• Thalassemia
• Sickle cell disease

Developmental issues

• Autism
• Developmental delay
• Attention deficit or hyperactivity
• Learning disability
• Failure to thrive
• Low muscle tone
• Loss of developmental skills
• Mental illness
• Speech problems
• Seizures
• Mental retardation

Sensory Deficits

• Too much farsightedness
• Too much nearsightedness
• Retinal or other visual problems
• Hearing loss

Symptoms for some of these defects can be similar to those for conditions that aren’t inherited. Signs of genetic defects can show at birth or during childhood.

What are the indications that your child might have a genetic disorder?

Following is a list of signs that might indicate that your child has a genetic defect. You must however remember that some of these signs are also found commonly in people who don’t have a disorder. If your child has any of the following features, you should consult with your doctor:

• Ear abnormalities
• Different colored eyes
• Unusually shaped eyes
• Facial features being different or unusual from other family members
• Excessive body hair
• sparse or Brittle hair
• White patches of hair
• small or Large tongue
• extra or missing teeth
• Misshapen teeth
• Unusually short or tall stature
• stiff or Loose joints
• Webbed toes or fingers
• Unusual birthmarks
• Excessive skin
• Unusual body odor
• decreased or Increased sweating

What causes genetic defects?

1. When it comes to birth defects, the causes remain unknown in most cases. In other cases, the cause for the defect might be environmental, like that of the baby being exposed to viruses or chemicals in the womb. It can also be a genetic cause or a combination of both.

2. Every body cell has chromosomes that contain genes, which determine the unique characteristics of a person. A child inherits one of each chromosome pair from each parent. Genetic defects occur when a baby is born with a damaged chromosome, or with too many or too few chromosomes. Down Syndrome is an example of a birth defect caused due to chromosome issues.

3. Other genetic defects may occur when one or both parents pass a faulty gene for a disease to the child. Marfan syndrome and achondroplasia are an example of such birth defects. Some boys might inherit disorders specifically from genes of their mothers, which include conditions like color blindness and hemophilia.

How to diagnose genetic defects?

It is possible to diagnose genetic defects even before the birth of a baby through prenatal testing. Genetic defects may also be found during routine screening of newborns. If you have concerns about a particular birth defect, you may want to have your baby tested for it. You should talk to your doctor about any test that your baby should have. It is best to consult with the doctor before the baby is born.

Dr.Prachi Bhosale Narendra
MBBS, DCH & Developmental Paediatrics
Consultant Neonatology and Paediatrics
Apollo Cradle & Children’s Hospital – Bangalore.

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