AI Summary Overview
What is Down Syndrome?
A person with Down syndrome usually has additional chromosome 21 material. Normally, people have 46 chromosomes arranged in 23 pairs. Down syndrome changes normal development and can affect the brain, muscles, heart, hearing, vision and other body systems.
Down syndrome is present from birth and is a lifelong genetic condition. It is not an infection, and it cannot be transmitted from one person to another.
The effects of Down syndrome vary considerably. Some people have relatively mild developmental difficulties, while others require more extensive medical, educational or daily living support. Intellectual disability associated with Down syndrome is commonly mild to moderate, although individual abilities differ.
What are the Types of Down Syndrome?
There are three main genetic types of Down syndrome:
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Trisomy 21 Trisomy 21 is the most common type of Down syndrome. Around 95% of people with Down syndrome have this form. In trisomy 21, each cell contains three separate copies of chromosome 21 instead of two. This usually results from a chromosome division error called nondisjunction during the formation of an egg or sperm. The additional chromosome is generally present in all cells after conception. Most cases of trisomy 21 are not inherited. Instead, the chromosome division error occurs randomly.
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Translocation Down Syndrome Translocation Down syndrome accounts for approximately 3% of cases. In this form, an extra chromosome 21 material is attached to another chromosome. The person therefore has additional chromosome 21 genetic material, even though there may not be three separate chromosome 21s. Most translocation cases are not inherited. However, some can occur because one parent carries a balanced chromosome rearrangement.
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Mosaic Down Syndrome Mosaic Down syndrome accounts for approximately 2% of cases. In mosaic Down syndrome, some cells have three copies of chromosome 21 while other cells have the usual two copies. The proportion of cells affected can vary between individuals and tissues. Some people with mosaic Down syndrome may have fewer characteristic features, but this is not guaranteed.
How Common is Down Syndrome in India?
India does not currently have sufficiently comprehensive, nationwide population-based surveillance to provide a precise current birth prevalence of Down syndrome. Nevertheless, reports estimate that around 0.88 - 1.09 per 1,000 live births have Down syndrome.
The difference between reported studies does not necessarily indicate that Down syndrome is becoming more or less common. Screening practices, maternal age, diagnostic access, study design and differences between hospital and population-based data can affect reported figures.
Stages of Down Syndrome
Down syndrome does not progress through defined medical stages. It is a lifelong genetic condition present from birth. However, a person's developmental, healthcare and support needs can change with age.
The changes through different phases of life of a person with Down syndrome are briefly described in the table below:
| Life Stage | Common Features |
| Infancy | Low muscle tone, feeding difficulties, slower motor development, characteristic physical features, and possible congenital heart defects |
| Early Childhood | Delayed sitting, standing or walking, speech and language delay, learning difficulties, and reduced muscle strength |
| School Age | Learning difficulties, delayed communication skills, shorter height, hearing or vision problems, and need for additional educational support |
| Adolescence | Continued learning and communication difficulties, slower development of independent living skills, and possible behavioural or emotional changes |
| Adulthood | Variable levels of independence, ongoing learning or communication difficulties, thyroid problems, sleep apnea, hearing or vision problems |
| Older Adulthood | Reduced mobility in some individuals, increasing support needs, memory or behavioural changes, and a higher risk of Alzheimer's disease |
What are the Symptoms of Down Syndrome?
The signs and symptoms of Down syndrome vary between individuals. A person does not need to have every characteristic associated with the condition. Some features may be noticeable at birth, while developmental differences become clearer as a child grows.
The various signs and symptoms of Down syndrome are given in the table below:
| Early Signs / Features | Later-Life Features / Health Concerns |
|
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Diseases Similar to Down Syndrome
Although Down syndrome has distinct genetic causes and features, some of its physical, developmental and medical characteristics can overlap with other chromosomal or genetic conditions.
The table below compares Down syndrome with Turner syndrome and Williams syndrome:
Down Syndrome Vs. Turner Syndrome Vs. Williams Syndrome
| Feature | Down Syndrome | Turner Syndrome | Williams Syndrome |
| How It Happens | Extra genetic material from chromosome 21 | Missing or altered X chromosome | Deletion of a small region of chromosome 7 |
| Location | Chromosome 21 | X chromosome | Chromosome 7 |
| Associated Symptoms | Developmental delay, learning difficulties, low muscle tone, characteristic facial features, heart defects | Short stature, delayed puberty, infertility, heart problems | Developmental delay, learning difficulties, distinctive facial features, heart and blood vessel problems |
| Severity | Varies considerably between individuals | Varies depending on associated health problems | Varies depending on developmental and cardiovascular involvement |
| Can It Be Reversed? | No | No | No |
What Causes Down Syndrome?
Down syndrome is caused by extra chromosome 21 material. The mechanisms are mentioned below:
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Chromosome Division Error The most common cause is a chromosome division error called nondisjunction. During the formation of reproductive cells, chromosomes normally separate so that each egg or sperm receives one copy of each chromosome. Occasionally, chromosome 21 does not separate correctly. This can produce an egg or sperm containing an extra chromosome 21. If conception occurs with that cell, the resulting embryo can have three copies of chromosome 21. This type of chromosome error generally occurs randomly. It is not caused by something a parent did before or during pregnancy.
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Translocation In translocation Down syndrome, extra chromosome 21 material becomes attached to another chromosome. This can occur as a new chromosome change in the child. Less commonly, a parent may carry a balanced translocation without having Down syndrome.
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Mosaicism Mosaic Down syndrome occurs because of a chromosome division error after fertilisation. This produces a mixture of cells. Some have the usual number of chromosomes, while others have an extra chromosome 21.
What are the Risk Factors for Down Syndrome?
Down syndrome usually occurs because of a random chromosome division error. It is not caused by something a parent did before or during pregnancy.
Factors that can increase the likelihood of having a baby with Down syndrome include:
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Increasing Maternal Age: The chance of having a baby with Down syndrome rises with maternal age, particularly from age 35 onwards. However, babies with Down syndrome can be born to women of any age.
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Previous Pregnancy or Child with Down Syndrome: Parents who have previously had a pregnancy affected by Down syndrome may have a higher chance in a future pregnancy.
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Parental Balanced Translocation: In a minority of translocation Down syndrome cases, one parent carries a balanced chromosome rearrangement that can increase recurrence risk.
A genetic counsellor can help families understand their individual likelihood based on chromosome results, family history and previous pregnancies.
What are the Complications of Down Syndrome?
Down syndrome is associated with a higher likelihood of health conditions affecting several organ systems. These complications of Down syndrome are given below:
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Congenital Heart Defects Heart defects are among the most important associated conditions. Different structural abnormalities can occur, including atrioventricular septal defects, ventricular septal defects and other congenital heart problems. An echocardiogram may be recommended after diagnosis to assess the heart.
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Hearing Problems Hearing impairment can affect speech and language development. Children may develop conductive hearing loss due to recurrent middle-ear fluid or infections. Sensorineural hearing loss can also occur. Regular hearing assessment is therefore an important part of Down syndrome care.
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Vision Problems Children and adults may develop refractive errors, squint, cataracts and other eye problems. Early detection can allow glasses, medical treatment or other interventions when needed.
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Thyroid Disorders Hypothyroidism is more common in people with Down syndrome. Thyroid blood tests are therefore often included in routine health monitoring.
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Sleep Apnea Obstructive sleep apnea occurs when the upper airway becomes repeatedly blocked during sleep. Possible signs include loud snoring, restless sleep, unusual sleeping positions, daytime sleepiness or behavioural changes.
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Digestive Conditions Digestive problems can include reflux, coeliac disease and structural intestinal abnormalities.
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Blood Disorders Children with Down syndrome have an increased risk of certain blood disorders, including some forms of leukaemia. Unusual bruising, persistent fatigue, frequent infections or other concerning symptoms should be evaluated by a healthcare professional.
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Neurological Conditions Seizures and other neurological problems can occur. Developmental delays are also common and should be assessed so that appropriate intervention can begin.
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Alzheimer's Disease Adults with Down syndrome have an increased risk of developing Alzheimer's disease. Changes in memory, behaviour, communication or daily functioning should be discussed with a healthcare professional.
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Musculoskeletal Problems Low muscle tone, loose joints and differences in bone development can affect movement. Some individuals can develop spine, joint or bone problems that require assessment and physiotherapy.
When Should I See My Healthcare Provider for Down Syndrome?
Parents, caregivers and adults with Down syndrome should seek medical assessment when there are new symptoms or concerns.
You should consult a healthcare professional if you or your child experiences any of the following:
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Delayed growth or development
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Feeding or swallowing difficulties
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Hearing problems
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Vision changes
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Persistent snoring or breathing pauses during sleep
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Unusual bruising or frequent infections
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Persistent fatigue
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Behavioural changes
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Memory or cognitive changes in adulthood
Regular health check-ups are also important for monitoring conditions commonly associated with Down syndrome.
How is Down Syndrome Diagnosed?
Down syndrome can be diagnosed during pregnancy or after birth. Screening is done during pregnancy, while diagnostic testing is done after birth.
A screening test estimates the likelihood that a pregnancy is affected by Down syndrome. It does not establish a definite diagnosis. A diagnostic test examines fetal or newborn cells to determine whether the chromosome abnormality is present.
A diagnostic overview table is given below for better understanding:
| Diagnostic Tests | Purpose | When Used |
| Ultrasound with nuchal translucency | Estimates likelihood of chromosomal abnormalities | Usually first trimester. |
| Maternal blood screening | Estimates likelihood of Down syndrome. | During pregnancy. |
| Cell-free DNA test | Screens for chromosome 21 abnormalities. | From around 10 weeks. |
| CVS | Diagnostic chromosome testing. | Usually 10–14 weeks. |
| Amniocentesis | Diagnostic chromosome testing. | Usually after 15 weeks. |
| Karyotype | Confirms chromosome abnormality and type. | Before or after birth, depending on the test. |
| FISH | Rapid assessment of selected chromosome abnormalities. | Selected diagnostic situations. |
A screening result cannot predict exactly how Down syndrome will affect a child. Although diagnostic chromosome testing confirms the genetic condition, it cannot predict a person's abilities, personality or future development.
How is Down Syndrome Managed/ Treated?
There is currently no treatment for Down syndrome that removes the extra chromosome 21. Management, therefore, focuses on treating associated medical conditions and supporting physical, developmental, educational and social needs.
Treatment is individualised, as a person with Down syndrome may require different services at different stages of life.
Common treatment or management approaches to Down syndrome are listed below:
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Early Intervention
Early intervention is an important part of Down syndrome management. Programmes can support:
- Motor development
- Communication
- Language
- Social development
- Feeding
- Self-care skills
- Cognitive development
Starting support early can help identify developmental needs and establish appropriate therapy.
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Physical Therapy
Physical therapy for Down syndrome can help children develop:
- Muscle strength
- Balance
- Coordination
- Posture
- Gross motor skills
- Movement patterns
Low muscle tone can make certain developmental milestones take longer. A physiotherapist can create an individual exercise and movement programme based on the child's needs.
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Speech and Language Therapy
Speech and language development can be delayed in Down syndrome. Speech language therapy may help with:
- Understanding language
- Expressing thoughts
- Pronunciation
- Vocabulary
- Communication skills
- Feeding and swallowing when required
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Occupational Therapy
Occupational therapy can help people with Down syndrome develop fine motor skills and abilities needed for everyday activities. Depending on the person's age and needs, this may include:
- Eating
- Dressing
- Writing
- Personal hygiene
- School activities and other self-care skills
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Treatment of Heart Problems
Treatment of heart problems depends on the specific defect and its severity. A congenital heart defect may require:
- Regular cardiac monitoring
- Medicines
- Catheter-based procedures
- Surgery
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Hearing Treatment
Treatment depends on the cause and severity of hearing loss. Possible interventions include:
- Treatment of ear infections
- Removal of persistent middle-ear fluid when appropriate
- Hearing aids
- Other hearing-support technologies
- Speech and language therapy
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Vision Treatment
Treatment may include:
- Prescription glasses
- Treatment for squint
- Management of cataracts
- Other ophthalmological procedures
Regular eye examinations can identify problems before they significantly affect learning or daily activities.
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Thyroid Treatment
If hypothyroidism is diagnosed, hormone replacement therapy may be prescribed. Thyroid function should be monitored periodically because thyroid disorders can develop at different stages of life.
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Sleep Apnea Treatment
Treatment depends on the cause and severity.
- Assessment by a sleep specialist
- Treatment of enlarged tonsils or adenoids
- Positive airway pressure therapy
- Weight management when appropriate
- Other airway interventions
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Mental and Behavioural Health Support Mental health needs of people with Down syndrome should be considered throughout childhood and adulthood. Counselling, behavioural support, psychological services and social support may be appropriate when anxiety, depression, behavioural changes or other mental health concerns occur.
Common Medicines Used to Treat Down Syndrome
There is no medicine that treats Down syndrome itself or removes the additional chromosome 21 material. However, medicines are generally prescribed to manage associated medical conditions rather than Down syndrome itself.
Depending on the individual's needs, the following medicines can be used to treat the following:
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Thyroid Hormones: Can be used to treat hypothyroidism (underactive thyroid), which is very common in people with Down syndrome.
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Anticonvulsants: Medications like carbamazepine or valproic acid may be used to manage seizure disorders and epilepsy.
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Heart Medications: Diuretics and digoxin can be used to help manage congenital heart defects and heart failure.
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Antibiotics: May be prescribed to treat frequent respiratory tract infections, ear infections, or to prevent heart infections (endocarditis).
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Cognitive and Psychiatric Medications: Drugs like donepezil or memantine may be used for early-onset dementia or Alzheimer's symptoms.
Note: Medications depend on the individual and associate conditions. Medications should only be taken under the supervision of a qualified healthcare professional.
Living With Down Syndrome: Daily Challenges and Caregiving
Living with Down syndrome can involve developmental, medical and everyday challenges. The level of support required varies between individuals. Families and caregivers may need to provide ongoing assistance with daily activities, healthcare and long-term planning.
Some of the critical challenges and care points of Down syndrome patients are mentioned below:
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Daily Challenges
- Learning and Communication: Learning and communication difficulties can affect education, work and everyday activities.
- Independent Living Skills: Some individuals may need additional support to develop self-care and independent-living skills.
- Health-Related Difficulties: Hearing, vision, sleep or mobility problems may affect daily functioning.
- Regular Monitoring: Medical check-ups and developmental assessments may be required throughout life.
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Caregiving
- Daily Support: Caregivers may assist with personal care, communication, education and daily routines.
- Healthcare Coordination: Medical appointments, therapies and regular health screenings may need to be coordinated.
- Therapy Support: Physiotherapy, speech therapy or occupational therapy may be required depending on individual needs.
- Encouraging Independence: Structured learning and daily living skills can help individuals become more independent.
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Expenses
- Routine Healthcare Costs: Regular expenses may include doctor consultations, medicines, therapies and diagnostic tests.
- Additional Support Costs: Expenses may arise from special education, assistive devices or treatment of associated health conditions.
- Long-Term Financial Planning: Suitable health insurance and early financial planning can help families prepare for ongoing healthcare and support costs.
What is the Prognosis for Down Syndrome?
Down syndrome is a lifelong condition and cannot be reversed. However, this does not mean that a person cannot lead a fulfilling and active life. Associated medical conditions, access to healthcare, developmental support, education and social circumstances can influence quality of life.
Besides, advances in medical care have improved life expectancy for people with Down syndrome.
Many people with Down syndrome attend school, learn to read and write, develop friendships, participate in sports, and take part in community activities and the level of independence differs between individuals.
A diagnosis of Down syndrome should therefore not be used to predict an individual's abilities.
How Can I Prevent Down Syndrome?
There is currently no guaranteed way to prevent Down syndrome. However, families can take the steps mentioned below to understand reproductive risks:
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Consider Genetic Counselling: A genetic counsellor can explain individual risks based on family and pregnancy history.
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Discuss Prenatal Screening: Screening options can be discussed with an obstetrician.
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Understand Diagnostic Testing: If screening indicates a higher chance, diagnostic tests can provide confirmation.
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Consider Parental Chromosome Testing: This may be relevant when translocation Down syndrome is diagnosed.
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Attend Regular Antenatal Care: Routine pregnancy care allows appropriate screening and assessment.
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Discuss Previous Affected Pregnancies: A previous pregnancy affected by Down syndrome may alter recurrence-risk counselling.
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Seek Specialist Advice: Maternal-fetal medicine specialists or clinical geneticists can explain available testing options.
Down Syndrome Treatment Cost in India
Down syndrome treatment and care costs in India can vary depending on the individual's medical needs, associated health conditions, frequency of therapies and the city where care is received. Expenses may include doctor consultations, developmental therapies, medicines, diagnostic tests, special education and treatment of associated conditions.
The table below represents the structured cost for the treatment of Down Syndrome in India:
| Treatment Component | Approximate Cost in India |
| Paediatric/developmental specialist consultation | ₹500 - ₹2,500 per visit |
| Physiotherapy | ₹500 - ₹1,500 per session |
| Speech therapy | ₹500 - ₹1,500 per session |
| Occupational therapy | ₹500 - ₹1,500 per session |
| Behavioural/developmental therapy | ₹700 - ₹2,000 per session |
| Special education | ₹3,000 - ₹15,000 per month |
| Medicines | ₹1,000 - ₹5,000 per month, depending on condition |
| Routine investigations and screening | ₹2,000 - ₹10,000 annually |
| Treatment of associated heart conditions | Can vary depending on severity |
| Major cardiac surgery, when required | ₹2 - ₹5 lakh, depending on the procedure |
Note: The above-mentioned costs are indicative. The actual treatment cost for Down syndrome will vary, depending on the complexity, the healthcare facility, the diagnostic tests required, the location and procedures and therapies required.
Does Health Insurance Cover Down Syndrome?
Down syndrome treatment is usually not covered by health insurance plans in India, as it is an external congenital condition. However, coverage for medical problems associated with Down syndrome, such as heart defects, may be covered under medical insurance. It is best to check with your insurer if they provide coverage for Down syndrome.
Coverage for medical problems associated with Down syndrome may include hospitalisation expenses, surgery fees, and day care procedures, subject to policy terms. However, routine outpatient therapy, doctor consultations, diagnostic tests, long-term rehabilitation, educational support or medications may be covered only if the policy has an OPD cover. Besides, waiting periods may apply before coverage can be accessed.
Parents should specifically review the policy wording for congenital conditions, pre-existing conditions, developmental disorders, rehabilitation and newborn coverage before buying.
How Much Health Insurance Coverage is Needed for Down Syndrome Treatment?
The amount of health insurance needed for Down syndrome management depends on the severity of associated health conditions, the treatment required and the city where treatment is received. A cover of at least ₹10 lakh to ₹15 lakh can provide reasonable protection against long-term expenses and management of the condition.
Higher coverage of at least ₹20 to ₹25 lakh may be worth considering when complex heart conditions, surgery, prolonged hospitalisation, repeated procedures or other major medical complications are involved.
Families should compare policies carefully and check inclusions, exclusions, waiting periods and sub-limits before buying a policy.
Frequently Asked Questions (FAQs)
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Q1. What treatment does a child with Down syndrome need?
Ans: There is no single treatment for Down syndrome. Care is based on the child's individual medical and developmental needs that may include physiotherapy, speech and language therapy, occupational therapy, educational support and treatment for associated conditions such as heart defects, thyroid disorders, hearing loss, vision problems or sleep apnea. -
Q2. When should early intervention begin for Down syndrome?
Ans: Early intervention for Down syndrome can begin as soon as developmental needs are identified, which can even be during infancy. A healthcare professional can assess the child's development and recommend appropriate therapies. Early support may focus on movement, communication, feeding, social skills and other developmental abilities. -
Q3. How does physiotherapy help children with Down syndrome?
Ans: Physiotherapy can help children with Down syndrome improve muscle strength, balance, coordination, posture and movement. It may support the development of skills such as sitting, crawling, standing and walking.
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References
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https://pmc.ncbi.nlm.nih.gov/articles/PMC5125364/
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https://pubmed.ncbi.nlm.nih.gov/36814128/
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https://emedicine.medscape.com/article/943216-medication?form=fpf
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https://pmc.ncbi.nlm.nih.gov/articles/PMC5310973/
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