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Questions and Answers
What percentage of births are affected by Down syndrome?
What is the only known risk factor for Down syndrome?
What is a characteristic of people 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?
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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?
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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?
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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.
