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Questions and Answers
What percentage of births are affected by Down syndrome?
What percentage of births are affected by Down syndrome?
What is the only known risk factor for Down syndrome?
What is the only known risk factor for Down syndrome?
What is a characteristic of people with Down syndrome?
What is a characteristic of people with Down syndrome?
What is a common health issue associated with Down syndrome?
What is a common health issue associated with Down syndrome?
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What is a diagnostic method for Down syndrome?
What is a diagnostic method for Down syndrome?
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What is the goal of treatment and management for people with Down syndrome?
What is the goal of treatment and management for people with Down syndrome?
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What is a therapy that can benefit people with Down syndrome?
What is a therapy that can benefit people with Down syndrome?
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What is the typical life expectancy for people with Down syndrome?
What is the typical life expectancy for people with Down syndrome?
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What is a complication that people with Down syndrome are at increased risk of?
What is a complication that people with Down syndrome are at increased risk of?
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What is a characteristic of intellectual disability in people with Down syndrome?
What is a characteristic of intellectual disability in people with Down syndrome?
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Study Notes
Definition and Prevalence
- Down syndrome is a genetic disorder caused by the presence of all or part of an extra copy of chromosome 21.
- It is the most common genetic cause of intellectual disability, occurring in about 1 in every 700-1 in every 1,000 births.
Causes and Risk Factors
- The only known risk factor is advanced maternal age, with the risk increasing significantly after the age of 35.
- There is no known cause of Down syndrome, and it is not caused by anything the parents did or did not do during pregnancy.
Characteristics and Symptoms
- Physical characteristics:
- Short stature
- Flat facial profile
- Small ears
- Upward-slanting eyes
- Small hands and feet
- Intellectual disability, ranging from mild to severe
- Delayed speech and language development
- Increased risk of:
- Heart defects
- Vision and hearing problems
- Increased risk of infections
- Thyroid problems
- Early onset of Alzheimer's disease
Diagnosis
- Prenatal diagnosis:
- Chorionic villus sampling (CVS)
- Amniocentesis
- Maternal serum screening
- Postnatal diagnosis:
- Physical examination
- Chromosomal analysis (karyotyping)
Treatment and Management
- No cure, but early intervention and treatment can improve quality of life
- Speech and language therapy
- Occupational therapy
- Physical therapy
- Medications for associated medical conditions
- Surgery for heart defects and other congenital anomalies
Life Expectancy and Prognosis
- Life expectancy has increased significantly, with many people with Down syndrome living into their 50s and 60s
- With proper medical care and support, many people with Down syndrome can lead active and fulfilling lives.
Definition and Prevalence
- Down syndrome is a genetic disorder caused by an extra copy of chromosome 21.
- It is the most common genetic cause of intellectual disability, occurring in about 1 in every 700-1,000 births.
Causes and Risk Factors
- Advanced maternal age (above 35) is the only known risk factor.
- There is no known cause of Down syndrome, and it is not caused by anything the parents did or did not do during pregnancy.
Characteristics and Symptoms
- Physical characteristics include short stature, flat facial profile, small ears, upward-slanting eyes, and small hands and feet.
- Intellectual disability ranges from mild to severe.
- Delayed speech and language development is common.
- Individuals with Down syndrome are at increased risk of:
- Heart defects
- Vision and hearing problems
- Infections
- Thyroid problems
- Early onset of Alzheimer's disease
Diagnosis
- Prenatal diagnosis methods include chorionic villus sampling (CVS), amniocentesis, and maternal serum screening.
- Postnatal diagnosis involves physical examination and chromosomal analysis (karyotyping).
Treatment and Management
- There is no cure, but early intervention and treatment can improve quality of life.
- Treatment options include:
- Speech and language therapy
- Occupational therapy
- Physical therapy
- Medications for associated medical conditions
- Surgery for heart defects and other congenital anomalies
Life Expectancy and Prognosis
- Life expectancy has increased significantly, with many people with Down syndrome living into their 50s and 60s.
- With proper medical care and support, many people with Down syndrome can lead active and fulfilling lives.
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Description
Learn about the definition and prevalence of Down syndrome, its causes and risk factors, including advanced maternal age and the genetic disorder's effects on intellectual disability.
