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Written By
Dr. Sakshi Sharma
BDS
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Dr. Varun Gupta
MD Pharmacology, MBBS
Last updated on:
27 Sep 2022 | 06:23 PM (IST)

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Down syndrome

Down syndrome

Also known as Down's Syndrome, Trisomy 21, Mongolism

Overview

Down syndrome is one of the most common genetic disorders seen in children. It occurs when the child is born with an extra chromosome. Chromosomes are thread-like structures found in every cell of the body. They carry hereditary information in the form of genetic codes. The presence of an extra chromosome in a child can affect the development of the baby’s body and brain, leading to birth defects, learning problems, and abnormal facial features.
 
The risk of a baby being born with Down syndrome is slightly high in women who conceive at or after 35 years. A 35-year-old woman has a 1 in 350 chance of conceiving a baby with Down syndrome. Routine antenatal (pregnancy-related) screening tests can help detect the condition early in the pregnancy (first trimester). 
 
Down syndrome is a lifelong condition. Currently, there are no approved medicines available for its treatment. Medical treatment is driven symptomatically based on the comorbidities affecting the individual. This helps to improve the quality of life and also helps increase life expectancy of the person.
 

Key Facts

Usually seen in
  • Children below 6 months of age
Gender affected
  • Both men and women
Body part(s) involved
  • Heart
  • Large intestine
  • Small intestine
  • Bones
  • Joints
  • Eyes
  • Ears
  • Blood
 
 
Prevalence
  • Worldwide: 1 in 1000 babies (2015)
Mimicking Conditions
  • Congenital hypothyroidism
  • Trisomy 18
  • Partial Trisomy 21 (or 21q duplication)
 
Necessary health tests/imaging
Specialists to consult
  • Child Specialist
  • Pediatric Cardiologist
  • Pediatric Neurologist
  • Bone & Joint Specialist
  • Gastroenterologist
  • Genetic Counsellor
  • Physiotherapist
  • Occupational Therapist
Related NGOs
 
 

Causes Of Down syndrome


It is caused due to a gene mutation in a chromosome. Both mother and father contribute one each to form a single pair of chromosomes in a child, which creates the unique genetic code of a child. However, due to certain maternal or environmental factors, chromosomes may mutate and the baby can be born with an extra copy of chromosome 21.

Chromosomes are a bundle of genes which are inherited by the child from its parents. Chromosomes come in pairs, and our body needs just the right number of pairs for the development of the body. There are 23 pairs of chromosomes in all healthy individuals. It is due to this extra copy of chromosome 21 that a child develops the characteristic physical and developmental problems associated with Down syndrome.

Types Of Down syndrome


There are three different types of Down syndrome:

1. Trisomy

In trisomy type, every cell in the body has three copies of chromosome no. 21 instead of two. This is the most common type of Down syndrome.

2. Translocation

In the translocation type, each cell has a part or entire extra chromosome 21 which is attached to other chromosomes.

3. Mosaic

In this type, only some of the cells have an extra chromosome 21. This is a rare type.

Symptoms Of Down syndrome


Usually, Down syndrome in a baby is identified prenatally (while the baby is in the womb) through pregnancy screening tests. It is also possible that the doctor may suspect a case of Down syndrome at birth or during follow-up visits due to the characteristic physical appearance that occurs with the condition.

1. Characteristic physical appearance

Individuals who have Down syndrome have distinct facial features, such as:

  • A flattened face with a protruding tongue (tongue sticking out of the mouth)
  • A small head and a short neck
  • Upward slanting eyelids and tiny white spots on the colored part (iris) of the eye
  • Unusually shaped small ears
  • Other characteristic physical appearances include -
  • Short stature
  • Broad, small hands and tiny fingers with a single crease in the palm
  • Excessive flexibility
  • Poor muscle tone

Along with the myriad of characteristic physical appearances, children with Down syndrome also suffer from intellectual and developmental disabilities and may develop other health-related comorbidities. 

2. Intellectual disabilities
Most children with Down syndrome have impaired cognitive function, reduced intelligence, poor memory, and language difficulties.

3. Developmental disabilities
Children with Down syndrome often face difficulty in attaining physical and developmental milestones, such as crawling, learning to walk, holding objects, etc.

4. Cardiac abnormalities
Congenital heart defects, such as atrioventricular septal defect and Fallot's tetralogy, are highly prevalent in babies with Down syndrome. These defects can be a significant cause of morbidity and mortality. 

5. Gastrointestinal tract abnormalities
Babies born with Down syndrome are more prone to structural abnormalities of the intestine, such as intestinal obstruction, and associated diseases such as GERD (gastroesophageal reflux disease).

6. Hematologic abnormalities
Newborn babies with Down syndrome have abnormal blood counts within the first few months of life. However, such conditions are not very severe and resolve within 3-4 weeks of life. Patients with Down syndrome have a 10-fold higher risk of developing leukemia.

7. Neurologic abnormalities
Reduced muscle tone is a characteristic neurologic abnormality of patients with Down syndrome. They are also more prone to seizures and early-onset Alzheimer's disease.

8. Hormonal imbalance
Hypothyroidism is common in patients with Down syndrome. It may cause delay in the onset of puberty. Sexual development with age may also get affected or delayed in children with this condition.

9. Vision abnormalities
Changes in the eye and vision, such as refractive errors, cataracts, retinal anomalies, are very common in children with Down syndrome.
 

Risk Factors For Down Syndrome


The risk of a baby being born with Down syndrome is comparatively high:
  • In women who conceive at or after 35 years of age. The chance of conceiving a baby with Down syndrome is 1 in 350 for a woman of age 35 years. The risk may increase with the increase in the age of the mother.
  • With increasing father’s age. There is also a rare possibility that a parent may be a carrier of the gene and pass it to their offspring. This condition is known as translocation Down syndrome.
  • In parents who already have one child with Down syndrome. They may be at a greater risk of having more children with the same condition. 
  • If someone in the close family has Down syndrome.
Myth: People with Down syndrome do not live very long.
Fact: Although there is no cure for Down syndrome, treatment such as physical, occupational, and speech therapy may help his or her development. Today, people with Down syndrome can look forward to a long life given the right medical attention. Also, with help and support from friends and family, lots of adults with this syndrome are leading an active and fairly independent life.
Myth: People with Down syndrome do not live very long.

Diagnosis Of Down Syndrome


Broadly, there are two types of tests to check for Down syndrome - Screening Tests and Diagnostic Tests.


1. Screening tests

These are often a combination of blood tests and ultrasound performed to determine the risk of a baby being born with Down syndrome. 
  • USG Foetal Well Being (7-10 weeks) - This can help identify any uneven or abnormal structural changes in the fetus, which are characteristic features to identify Down syndrome. The ultrasound is usually performed during the first trimester.
  • Antenatal Profile Comprehensive - This includes a set of routine blood tests that measure various parameters and, when used along with ultrasound imaging, can help screen for fetal abnormalities.


2. Diagnostic tests

If any abnormalities are found in the pregnancy screening tests, diagnostic tests are performed to confirm the diagnosis of Down syndrome.
  • Chromosome Analysis, Chorionic villus - In this test, cells are taken from the placenta and used to analyze the fetal chromosomes. The presence of an extra chromosome 21 confirms the diagnosis of Down syndrome.
  • Amniocentesis - During the second trimester of pregnancy, the analysis of fluid obtained from the amniotic sac surrounding the baby can help identify the possibility of a child being born with Down syndrome.


3. Supportive tests

There are numerous comorbidities that can affect a person with Down syndrome. A few tests are essential to help evaluate these comorbidities.
  • Echocardiography - to detect congenital cardiac abnormalities, which are very common in babies with Down syndrome.
  • Thyroid Profile Total- quite often it is seen that individuals who have Down syndrome also suffer from hypothyroidism. It is essential to diagnose the possibility of hypothyroidism and treat it.
  • Vitamin D (25-OH) - the musculoskeletal system of patients with Down syndrome is weak and poorly developed. The patient may also suffer from Vitamin D deficiency.
  • USG Whole Abdomen - some patients with Down syndrome suffer from gastrointestinal issues like intestinal obstruction, perforation, or GERD. If the patient exhibits any such symptoms, it is essential to evaluate the cause using ultrasound of the whole abdomen.
  • Complete Blood Count (CBC) - in the early weeks of life, newborn babies with Down syndrome suffer from impaired blood counts. Individuals with Down syndrome are also more prone to develop leukemia. Hence, routine CBC tests can help identify any blood-related abnormalities in time.
 

Prevention Of Down Syndrome


As such, there is no way to prevent Down syndrome. However, early conception before the age of 35 reduces the risk of a baby being born with this condition. Genetic counseling may help the cases where the risk of a baby being born with this syndrome is high.

Routine antenatal proffile (pregnancy-related) screening tests help identify the condition as early as the first trimester of pregnancy. Awareness regarding antenatal tests can help parents make informed decisions about the pregnancy and its complications.
 

Specialist To Visit


Usually, Down syndrome is detected during pregnancy by an obstetrician or at birth by a neonatologist. Sometimes, the diagnosis may not be picked up early and the child may be diagnosed with Down syndrome during routine visits to the physician. Usually, a child with Down syndrome will be cared for by a team of expert doctors. These doctors include: 
  • Child Specialist
  • Pediatric Cardiologist
  • Pediatric Neurologist
  • Bone & Joint Specialist
  • Gastroenterologist
  • Genetic Counsellor
  • Physiotherapist

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Treatment Of Down Syndrome

Currently, there are no approved medicine therapies for the treatment of Down syndrome. Medical treatment is driven symptomatically based on the comorbidities affecting the individual. For example thyroid medications to control Hypothyroidism, Vitamin D supplements for Vitamin D deficiency, analgesics to provide pain relief, corrective surgery for congenital heart defects and intestinal defects, etc.

1. Alternative therapies

These form the most important part of managing Down syndrome. As the disease is congenital and impairs the person's intellectual and developmental abilities, it is essential that supportive care for the child begins as soon as possible. This will help the child lead a fairly normal, productive life.

2. Physiotherapy and occupational therapy

Physiotherapy and occupational therapy help the child achieve developmental milestones, like walking, hand gripping, balancing, etc., through customized exercise programs. These exercise programs can also help care for the bones & joints and prevent worsening of the musculoskeletal system.

3. Speech therapy

Speech therapy and voice modulation exercises are essential as they help the child communicate effectively. Learning to communicate well is a very important aspect of the social development of a child suffering from Down syndrome.

4. Life skills training

A child with Down syndrome often needs specialized life skills training in sync with his or her level of functioning. There are support groups and special schools available to help the child learn essential life skills, such as self-care and grooming, primary education, decision-making, etc. This helps the child grow into a somewhat normal-functioning adult who can lead a productive life.
 

Home-care For Down Syndrome


Educating oneself regarding the symptoms and disease progression of Down syndrome is essential for the parent or caregivers. A child with Down syndrome will require treatment with a multidisciplinary approach that improves their physical and intellectual capabilities.

Children with Down syndrome often need special attention at school. There are special classes and programs available for children and adults with Down syndrome. Also, close monitoring for comorbidities, such as cardiac complications, vision abnormalities, gastrointestinal problems, bone and joint pains, etc., need to be addressed as and when they start affecting the individual.

With good treatment opportunities, patients with Down syndrome can lead fairly normal lives with improved life expectancy.
 
 

Complications Of Down Syndrome


Down syndrome often presents with a host of other health conditions and, if left untreated, may pose a serious health risk. Certain complications may arise when Down syndrome is left untreated such as: 
  • The inability of the child to function normally in the community
  • Cardiac complications, a consequence of congenital heart defects, often present in a child with Down syndrome
  • Weakened immune system, leading to a higher risk of serious infections
  • Obesity due to lack of physical activity
  • Sleep apnea, a breathing disorder that occurs while sleeping
  • Skeletal malformations
  • Poor vision and hearing
  • Seizures
 

Living With Down Syndrome


Infants born with Down syndrome are often subjected to social stigmas at a very early age. They may not be able to attend normal schooling or grow up like a regular child. Parents or caregivers need to provide special care and attention as the child grows. Most kids with Down syndrome could grow like normal kids due to the advent of numerous advances in physiotherapy, occupational therapy, and other supportive treatments.

Consult India's best doctors online with a single click.


 

Frequently Asked Questions

References

  1. Down’s Syndrome. Faisal Akhthar, Syed Rizwan A. Bokhari. StatPearls Publishing. Jan 2021. External Link
  2. Facts about Down’s Syndrome. Centers for Disease Control and Prevention. External Link
  3. Down Syndrome: From Understanding the Neurobiology to Therapy. Kathleen Gardiner et al. J Neurosci. 2010 Nov 10; 30(45): 14943–14945. External Link
  4. What is Down’s Syndrome? National Health Service UK. External Link
  5. Fisch H, Hyun G, Golden R, Hensle TW, Olsson CA, Liberson GL. The influence of paternal age on down syndrome. J Urol. 2003 Jun;169(6):2275-8. / External Link
  6. Asim A, Kumar A, Muthuswamy S, Jain S, Agarwal S. "Down syndrome: an insight of the disease". J Biomed Sci. 2015;22(1):41. External Link
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