24 Questions
What is a possible nutritional deficiency in individuals with Down syndrome?
Vitamin B12 deficiency
What is a common reproductive issue in women with Down syndrome?
No reproductive issues
What is a characteristic of growth in infants with Down syndrome?
Weight less than expected for length
Which of the following is a skeletal abnormality associated with Down syndrome?
Flat foot
What is a possible sleep problem associated with Down syndrome?
Sleep apnoea
What is a possible feeding problem in infancy associated with Down syndrome?
Choking with feeds
What is a possible reason for recurrent chest infections in individuals with Down syndrome?
All of the above
What is a visual problem associated with Down syndrome?
Refractive disorder
What is the primary reason for infertility in males with Down syndrome?
Impaired spermatogenesis
What is the typical age range for screening for Atlantoaxial instability in individuals with Down syndrome?
3-5 years
What is the primary method of diagnosis for Down syndrome?
Genetic Karyotyping
What is the primary goal of plotting growth measurements for children with Down syndrome?
All of the above
What is the recommended frequency for hearing screening in children with Down syndrome?
Every 6 months
What is the primary method of prenatal screening for Down syndrome?
All of the above
What is the recommended evaluation for cardiac disease in newborns with Down syndrome?
Cardiac ECHO
Which of the following is NOT a characteristic phenotypic feature of Down syndrome?
Macroglossia
At what age should an eye exam be performed to detect strabismus, nystagmus, and cataracts?
Before 6 months of age
How often should thyroid function tests be performed in individuals with Down Syndrome?
At 6 and 12 months, and then annually
At what age should screening for celiac disease begin in individuals with Down Syndrome?
At 2 years
What is the recurrence risk for children if a parent has Trisomy 21?
1-4%
What test should be performed at birth to evaluate for leukemia in individuals with Down Syndrome?
CBC with DLC
At what age should an X-ray be performed to detect atlanto-axial instability in individuals with Down Syndrome?
At 3-5 years
What is a common comorbidity that should be excluded when diagnosing Alzheimer's disease in adults with Down Syndrome?
Thyroid disease and depression
What is the approximate percentage of individuals with Down Syndrome who will not have a child with the condition?
96-99%
Study Notes
Infertility
- Almost all males with Down syndrome (DS) are infertile due to impaired spermatogenesis.
Skeletal Abnormalities
- Atlantoaxial instability can occur in individuals with DS.
- Other skeletal abnormalities include flat foot, dysgenesis of middle phalax in little finger, narrow maxilla, and clinodactyly.
Diagnosis
- Diagnosis of DS can be made by recognizing characteristic phenotypic features.
- Genetic karyotyping is used to confirm the diagnosis.
- If translocation type, screen both parents for translocation carrier to determine recurrence risk.
Prenatal Screening
- Methods for prenatal screening include amniocentesis, chorionic villus sampling (CVS), and percutaneous umbilical blood sampling (PUBS).
- Biochemical markers used for screening include free beta HCG in the first trimester and alpha-fetoprotein (AFP) in the second trimester.
Management
- Growth measurements should be plotted on an appropriate growth chart to prevent obesity and diagnose celiac disease and hypothyroidism early.
- All newborns with DS should undergo cardiac ECHO to evaluate for congenital heart disease (CHD).
- Hearing screening should be done in the newborn period, every 6 months until 3 years of age, and then annually.
Complications
- Sleep problems: sleep apnoea, other sleep disturbances
- Skeletal problems: flat foot, atlantoaxial subluxation
- Visual problems: refractive disorders, squint, nystagmus, cataract
- Hearing problems: hearing loss, conductive hearing loss, chronic otitis media
- Obesity and nutrient deficiency: malabsorption, lack of vitamin B12, folic acid, and zinc
Feeding Problems
- Common feeding problems in infancy include choking with feeds, recurrent pneumonia, and unexplained failure to thrive.
Recurrent Chest Infections
- Causes of recurrent chest infections include decreased immunity, CHD, hypotonia, weak cough reflex, and recurrent aspiration.
Growth
- Infants with DS have lower weight, length, and head circumference compared to normal infants.
- They have a reduced growth rate and are prone to obesity by age 3-4 years.
Reproduction
- Women with DS are fertile and may become pregnant.
Management (cont.)
- Eye exams should be performed in the newborn period or at least before 6 months of age to detect strabismus, nystagmus, and cataracts.
- Thyroid function tests should be done in the newborn period and repeated at 6 and 12 months, and then annually.
- Screening for celiac disease should begin at 2 years of age and repeated if signs develop.
Counseling
- Recurrence risk for trisomy 21 (nondisjunction) is 1-4%, with an additional 1% risk based on maternal age.
This quiz covers the abnormalities associated with Down Syndrome, including infertility, skeletal abnormalities, and diagnosis methods. It also touches on specific characteristics such as atlantoaxial instability and dysgenesis of the middle phalanx.
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