9 Questions
What is the primary cause of Down syndrome?
An extra copy of chromosome 21
What is the typical age range for advanced maternal age, which increases the risk of Down syndrome?
Over 35 years
Which of the following is a common physical characteristic of Down syndrome?
Short stature
What is the primary purpose of prenatal diagnosis for Down syndrome?
To confirm the presence of the condition
Which of the following is a benefit of early intervention programs for Down syndrome?
Increased independence
What is the focus of treatment for Down syndrome?
Managing associated medical conditions
Which of the following is a type of therapy used in early intervention programs for Down syndrome?
Speech therapy
What is the purpose of chorionic villus sampling (CVS) in prenatal diagnosis?
To diagnose Down syndrome
What is a common associated medical condition with Down syndrome?
Heart defects
Study Notes
Down Syndrome
Genetics
- Caused by a chromosomal abnormality, specifically an extra copy of chromosome 21 (trisomy 21)
- Occurs in about 1 in every 800 births
- Risk of Down syndrome increases with advanced maternal age (over 35 years)
Symptoms
- Physical characteristics:
- Short stature
- Flat facial profile
- Small ears
- Small hands and feet
- Poor muscle tone
- Intellectual disability (mild to moderate)
- Delayed speech and language development
- Increased risk of heart defects, vision problems, and hearing loss
Diagnosis
- Prenatal diagnosis:
- Chorionic villus sampling (CVS) at 10-12 weeks
- Amniocentesis at 15-20 weeks
- Postnatal diagnosis:
- Physical examination
- Chromosomal analysis (karyotyping)
- Screening tests:
- Maternal serum screening (AFP, hCG, estriol)
- Ultrasound examination
Early Intervention
- Early intervention programs:
- Physical therapy
- Occupational therapy
- Speech therapy
- Special education
- Benefits:
- Improved cognitive and motor skills
- Enhanced language development
- Increased independence
- Better social skills
Treatment
- No cure for Down syndrome, but treatment focuses on managing associated medical conditions
- Medications for:
- Heart defects
- Seizures
- Sleep apnea
- Thyroid problems
- Surgery for:
- Heart defects
- Vision problems
- Multidisciplinary approach:
- Pediatricians
- Geneticists
- Speech therapists
- Occupational therapists
- Physiotherapists
Down Syndrome
Genetics
- Down syndrome is caused by a chromosomal abnormality, specifically an extra copy of chromosome 21 (trisomy 21).
- The condition occurs in about 1 in every 800 births.
- Advanced maternal age (over 35 years) increases the risk of Down syndrome.
Symptoms
- Physical characteristics of Down syndrome include:
- Short stature
- Flat facial profile
- Small ears
- Small hands and feet
- Poor muscle tone
- Intellectual disability in individuals with Down syndrome can range from mild to moderate.
- Delayed speech and language development are common symptoms.
- Individuals with Down syndrome are at increased risk of:
- Heart defects
- Vision problems
- Hearing loss
Diagnosis
- Prenatal diagnosis of Down syndrome can be done through:
- Chorionic villus sampling (CVS) at 10-12 weeks
- Amniocentesis at 15-20 weeks
- Postnatal diagnosis involves:
- Physical examination
- Chromosomal analysis (karyotyping)
- Screening tests for Down syndrome include:
- Maternal serum screening (AFP, hCG, estriol)
- Ultrasound examination
Early Intervention
- Early intervention programs for Down syndrome include:
- Physical therapy
- Occupational therapy
- Speech therapy
- Special education
- Benefits of early intervention programs include:
- Improved cognitive and motor skills
- Enhanced language development
- Increased independence
- Better social skills
Treatment
- There is no cure for Down syndrome, but treatment focuses on managing associated medical conditions.
- Medications may be used to treat:
- Heart defects
- Seizures
- Sleep apnea
- Thyroid problems
- Surgery may be necessary to treat:
- Heart defects
- Vision problems
- A multidisciplinary approach to treatment involves a team of healthcare professionals, including:
- Pediatricians
- Geneticists
- Speech therapists
- Occupational therapists
- Physiotherapists
This quiz covers the genetic causes and physical symptoms of Down syndrome, including the effects of advanced maternal age and the characteristics of intellectual disability.
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