Down Syndrome: A Guide to Symptoms and Treatments

Imagine a world where we celebrate people for their unique abilities, where we see the diversity of people as a strength rather than a challenge or problem. Down Syndrome, is a genetic condition in which the person has an extra copy of chromosome 21. Every year many parents welcome their baby with Down Syndrome and a journey filled with joy and challenges. Down Syndrome remains surrounded by many stereotypes and misconceptions which affect the richness of people life who live with it. The presence of additional copies of genetic material leads to developmental delays, varying degrees of intellectual disability, and alteration in physical traits. 

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Symptoms of Down Syndrome

When a person suffers from Down syndrome he or she will experience behavioral, cognitive, and physical symptoms whose severity differs from person to person.

1. Physical symptoms include the following:

1. Small ears 
2. Hypertonia 
3. Palmar crease 
4. Brush field spots 
5. Slow growth and stature 
6. Shortened neck and feet 
7. Flattened face with a bridged nose 

2. Cognitive symptoms include the following:

1. Memory impairments 
2. Takes more time to learn new things 
3. Delays in speaking and understanding 
4. Challenges in attention and concentration 
5. Delays in reaching developmental milestones like walking, talking, etc
6. Difficulties in planning, organizing, decision making and problem-solving

3. Behavioral symptoms include the following things:

1. Impulsivity 
2. Stubbornness  
3. Aggressiveness 
4. Temper tantrums 
5. Oppositional behaviours 
6. Difficulty in maintaining social relationships 

Complications

As the child grows into an adult it starts to face the following health concerns:

1. Vision problems: People with Down Syndrome face various problems with vision. It includes:

• Farsightedness 
• Nearsightedness  
• Cataracts  
• Crossed eye  

2. Hearing problems: Hearing problems are more common in Down Syndrome and many people often lose hearing and have hearing infections. They have problems ranging from mild to severe  which include the following; 

• Ear canal stenosis  
• Mixed hearing loss 
• Conductive hearing loss 
• Sensorineural hearing loss 
• Eustachian tube dysfunction  
• Hearing infections like chronic otitis media 

3. Congenital heart defects: Many people with Down Syndrome are born with heart defects and have undergone surgery or medical treatments. 

4. Dental problems: Here the people have poor oral health and delayed tooth eruption. 

5. Thyroid dysfunctions 

6. Gastrointestinal issues 

7. Sleep apnea

Read More: A Runner with Down’s Syndrome Made History in the London Marathon

Causes

1. Biological cause: In Down Syndrome, the occurrence of an extra copy of chromosome 21 is caused by three reasons:  Nondisjunction, Translocation, and Mosaicism. 

• Nondisjunction: It is also called trisomy 21 in which the individual has 3 copies of chromosome 21 in all their cells.  It is the most common type of Down Syndrome accounting for 95% of cases. This extra copy is due to an error in cell division called nondisjunction which can occur either before or at conception. 
• Translocation Down Syndrome: It is a condition in which chromosome 21 is translocated to place of another chromosome,  typically chromosome 14. It takes place before or at conception. It accounts for 4% of cases of  Down Syndrome. Here the person has 46 chromosomes but the extra presence of genetic material in chromosome 21 causes the features of Down Syndrome. 
• Mosaicism Down Syndrome: In the mosaicism type, people tend to have 46 chromosomes with a combination of two types of cells.  In some conditions, the person has 47 chromosomes. It is the rarest form which accounts for 2%  of the cases.  

2. Environmental cause: There is no proper evidence and research regarding environmental factors and parenting before or after pregnancy as causes of Down Syndrome. 

Diagnosis

Prenatal tests, such as screening tests and diagnostic tests, can diagnose Down Syndrome.

1. Screening tests

1. Nuchal Translucency ultrasound: It is performed in between 10 and 14 weeks of pregnancy in which the Nuchal  Translucency ultrasound is performed to measure the level of fluid at the back side of the baby’s neck. Here the increased thickness shows the high risk of Down Syndrome. 
2. Blood test: The blood of a pregnant person is taken for a test to measure the level of pregnancy-associated plasma protein and human chorionic gonadotropin which abnormal level can lead to the risk of Down Syndrome. Both these screening tests take place in the first trimester. 
3. Quad screening test: It is a blood test taken to measure the level of four substances such as AFP, HCG,  estriol and inhibin A. Here the abnormal level of these four increases the risk of Down Syndrome. 

2. Diagnostic Tests

1. Amniocentesis:  It takes place between the 15^th and 20^th week of pregnancy in which the sample of  amniotic fluid in the uterus is taken and tested for chromosomal abnormalities 
2. Chorionic villus sampling (CVS): In this diagnosis test, sample cells are taken from the placenta and tested for chromosomal abnormalities. It takes place during the 13th week of pregnancy. 
3. Percutaneous umbilical blood sampling (PUBS): It is a test in which a baby’s blood is taken from the umbilical cord during the 18^th week of pregnancy. It is not common because of its higher risk. 

Down Syndrome VS Autism 

• It is a genetic disorder that occurs at or before conception whereas autism is a neurodevelopmental disorder that is caused by a combination of genetic and environmental factors. 
• In Down Syndrome, people exhibit physical characteristics such as flat faces, short necks, small ears, and pointed fingers, whereas autism does not have any associated physical characteristics.
• In Down Syndrome, people have speech delays but they have strong social connections in autism difficulties in communication and social skills are the core features. 
• Down Syndrome is associated with an increased risk of congenital heart disease, Alzheimer’s, and hearing, and thyroid problems whereas autism is associated with co-occurring conditions like epilepsy, gastrointestinal issues,  and sleep disturbances. 

Treatments of Down Syndrome

There is no particular treatment or cure. But there are a wide range of treatments and  interventions that help the individual manage with symptoms  

1. Special educational services: It involves tailoring standard educational plans for those with Down Syndrome to succeed in school. It includes regular classrooms, special education, social recreation activities, and individual educational programs. 
2. Behavioural counselling: Some People with Down Syndrome have conditions like ADHD, autism and so on which are addressed through behavioural counselling. 
3. Speech therapy: Down Syndrome children undergo difficulty with communication. So through Play therapy, their communication skills can be improved. 
4. Physical therapy: It improves their strength, motor skills and coordination. 
5. Occupational therapy: It helps them to manage their daily routines and fine motor skills
6. Medical treatment  

• Surgeries for heart defects 
• Medications for gastrointestinal issues 
• Regular health check-ups and screening  
• Hearing aids and cochlear implants for hearing issues 
• Glasses, contact lenses and surgeries for vision problems. 

Read More: Applied Behavior Analysis: A Therapy for Children with Autism

It is a genetic condition in which the person has an extra copy of chromosome 21. Here the person experiences physical symptoms such as a flat face,  short next, short stature, palmar crease, hypertonia and small ears, cognitive symptoms such as difficulty concentrating, challenges in attention, difficulties in planning, organizing and problems in decision-making, behavioural symptoms such as stubbornness, aggressiveness, impulsivity, social impairment and oppositional behaviours.

There are many other complications associated with it which include vision problems such as nearsightedness, far-sightedness, crossed eyes, and cataracts, hearing problems such as conductive hearing loss, sensorineural hearing loss, mixed hearing loss, ear infections, congenital heart defects, dental problems, sleep apnea, gastrointestinal issues and thyroid problems. 

Genetic factors, such as non-disjunction, translocation, and mosaicism, cause Down Syndrome. The diagnosis of Down Syndrome can done both prenatal and postnatal. In prenatal screening tests such as nuchal Translucency ultrasound, blood tests quad screening tests and diagnosis tests such as chorionic villus sampling, amniocentesis, and percutaneous umbilical blood sampling.

It differs from autism in various ways such as causes,  presence of physical characteristics, communication problems and co-occurring conditions.  There is no particular treatment or cure but there is a wide range of treatments and interventions that help them manage their symptoms.  The treatments include special educational services that facilitate them to succeed in the school environment, physical therapy to improve their strength and mobility,  occupational therapy help them to cope with daily routines, speech therapy to improve their communication skills, and behavioural counselling to address the other conditions like ADHD which is shown by people with Down Syndrome and medical treatments such as glasses, contact lens and surgeries for eye problems, hearing aids,  and cochlear implants for hearing problems, medications for gastrointestinal issues and regular checkup and screening. 

FAQs

1. What are the complications associated with Down Syndrome? 

• Sleep apnea  
• Vision problems  
• Dental problems  
• Hearing problems 
• Thyroid problems 
• Gastrointestinal issues  
• Congenital heart defects  

2. What is the most common cause or form of Down Syndrome? 

The most common cause or form of Down Syndrome is nondisjunction which is also called trisomy 21 in which the person has an extra copy of chromosome 21 due to an error in cell division. This condition accounts for 95% of cases. 

3. Is there any treatment to cure Down Syndrome? 

There is no treatment or cure but there are many treatments and interventions for helping the person to cope with their symptoms and daily routines.