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Questions and Answers
What is the main cause of Down syndrome?
What is the main cause of Down syndrome?
What is the increased risk factor for having a child with Down syndrome?
What is the increased risk factor for having a child with Down syndrome?
What is the approximate prevalence of Down syndrome?
What is the approximate prevalence of Down syndrome?
What is a common physical characteristic of people with Down syndrome?
What is a common physical characteristic of people with Down syndrome?
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What is a type of prenatal diagnosis for Down syndrome?
What is a type of prenatal diagnosis for Down syndrome?
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What is a common health problem associated with Down syndrome?
What is a common health problem associated with Down syndrome?
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What type of therapy is often used to improve communication skills in people with Down syndrome?
What type of therapy is often used to improve communication skills in people with Down syndrome?
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What is the average life expectancy of people with Down syndrome?
What is the average life expectancy of people with Down syndrome?
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What is a common intellectual disability characteristic of people with Down syndrome?
What is a common intellectual disability characteristic of people with Down syndrome?
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What is a common health problem associated with Down syndrome?
What is a common health problem associated with Down syndrome?
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Study Notes
Definition and Prevalence
- Down syndrome is a genetic disorder caused by the presence of an extra copy of chromosome 21
- Also known as Trisomy 21
- Occurs in approximately 1 in every 700-1,000 births
- Affects people of all ethnicities and economic backgrounds
Causes and Risk Factors
- The extra chromosome 21 can come from either the mother or the father, but it is more likely to come from the mother
- The risk of having a child with Down syndrome increases with the mother's age, especially after age 35
- Women who have had a previous child with Down syndrome are at higher risk of having another child with the condition
Characteristics and Symptoms
- Physical characteristics:
- Flattened facial features
- Small head and ears
- Upward-slanting eyes
- Small hands and feet
- Short stature
- Intellectual disability:
- Delayed speech and language development
- Delayed cognitive development
- Variable intellectual disability (mild to severe)
- Other health problems:
- Heart defects
- Vision problems
- Hearing loss
- Increased risk of infections
- Increased risk of certain cancers
Diagnosis
- Prenatal diagnosis:
- Chorionic villus sampling (CVS)
- Amniocentesis
- Non-invasive prenatal testing (NIPT)
- Postnatal diagnosis:
- Physical examination
- Chromosomal analysis (karyotype)
Treatment and Management
- No cure for Down syndrome, but various treatments and therapies can help manage the condition
- Speech therapy to improve communication skills
- Occupational therapy to improve daily living skills
- Physical therapy to improve motor skills
- Medications to treat associated health problems (e.g., heart defects, seizures)
- Surgery to correct physical abnormalities (e.g., heart defects, cleft palate)
Prognosis and Quality of Life
- With proper medical care and support, people with Down syndrome can lead healthy and fulfilling lives
- Many people with Down syndrome attend school, work, and participate in their communities
- Average life expectancy is around 50-60 years, but with proper care, some people may live into their 60s and 70s
Definition and Prevalence
- Down syndrome is a genetic disorder caused by an extra copy of chromosome 21, also known as Trisomy 21
- Occurs in approximately 1 in every 700-1,000 births
- Affects people of all ethnicities and economic backgrounds
Causes and Risk Factors
- The extra chromosome 21 can come from either parent, but more likely from the mother
- Risk of having a child with Down syndrome increases with the mother's age, especially after 35
- Women who have had a previous child with Down syndrome are at higher risk of having another child with the condition
Characteristics and Symptoms
- Physical characteristics: flattened facial features, small head and ears, upward-slanting eyes, small hands and feet, and short stature
- Intellectual disability: delayed speech and language development, delayed cognitive development, and variable intellectual disability (mild to severe)
- Other health problems: heart defects, vision problems, hearing loss, increased risk of infections, and increased risk of certain cancers
Diagnosis
- Prenatal diagnosis: chorionic villus sampling (CVS), amniocentesis, and non-invasive prenatal testing (NIPT)
- Postnatal diagnosis: physical examination and chromosomal analysis (karyotype)
Treatment and Management
- No cure, but various treatments and therapies can help manage the condition
- Speech therapy to improve communication skills
- Occupational therapy to improve daily living skills
- Physical therapy to improve motor skills
- Medications to treat associated health problems
- Surgery to correct physical abnormalities
Prognosis and Quality of Life
- With proper medical care and support, people with Down syndrome can lead healthy and fulfilling lives
- Many people with Down syndrome attend school, work, and participate in their communities
- Average life expectancy is around 50-60 years, but with proper care, some people may live into their 60s and 70s
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Description
Learn about Down syndrome, a genetic disorder caused by an extra copy of chromosome 21, its prevalence, causes, and risk factors.
