Podcast
Questions and Answers
At what age should an eye exam be performed in a newborn to detect strabismus, nystagmus, and cataracts?
At what age should an eye exam be performed in a newborn to detect strabismus, nystagmus, and cataracts?
- At 2 years
- At birth
- Before 6 months of age (correct)
- Within the first week
How often should thyroid function tests be performed in the first year of life?
How often should thyroid function tests be performed in the first year of life?
- At birth, 6 months, and 12 months (correct)
- At birth, 3 months, and 6 months
- At birth, 6 months, 12 months, and annually
- At birth only
At what age should screening for celiac disease begin?
At what age should screening for celiac disease begin?
- At 6 months
- At 12 months
- At 2 years (correct)
- At birth
What is the primary purpose of performing a CBC with DLC at birth?
What is the primary purpose of performing a CBC with DLC at birth?
When should an X-ray be performed to evaluate for atlanto-axial instability?
When should an X-ray be performed to evaluate for atlanto-axial instability?
What is the recurrence risk for children to have Down syndrome if a sibling has the condition?
What is the recurrence risk for children to have Down syndrome if a sibling has the condition?
At what age does an adult with Down syndrome typically exhibit symptoms of Alzheimer's disease?
At what age does an adult with Down syndrome typically exhibit symptoms of Alzheimer's disease?
Why is it essential to exclude thyroid disease and possible depression when considering a diagnosis of Alzheimer's disease?
Why is it essential to exclude thyroid disease and possible depression when considering a diagnosis of Alzheimer's disease?
What is a common feeding problem in infants with Down syndrome?
What is a common feeding problem in infants with Down syndrome?
Which of the following is a skeletal abnormality associated with Down syndrome?
Which of the following is a skeletal abnormality associated with Down syndrome?
Why are individuals with Down syndrome at increased risk of respiratory infections?
Why are individuals with Down syndrome at increased risk of respiratory infections?
What is a common nutritional deficiency in individuals with Down syndrome?
What is a common nutritional deficiency in individuals with Down syndrome?
What is a characteristic growth pattern in Down syndrome?
What is a characteristic growth pattern in Down syndrome?
What is a common reproductive health issue in women with Down syndrome?
What is a common reproductive health issue in women with Down syndrome?
What is a sleep disorder associated with Down syndrome?
What is a sleep disorder associated with Down syndrome?
What is a common visual problem in individuals with Down syndrome?
What is a common visual problem in individuals with Down syndrome?
What is the primary cause of infertility in males with Down Syndrome?
What is the primary cause of infertility in males with Down Syndrome?
What is the age range for screening for atlantoaxial instability in individuals with Down Syndrome?
What is the age range for screening for atlantoaxial instability in individuals with Down Syndrome?
Which of the following is a characteristic skeletal abnormality in Down Syndrome?
Which of the following is a characteristic skeletal abnormality in Down Syndrome?
What is the purpose of plotting growth measurements in children with Down Syndrome?
What is the purpose of plotting growth measurements in children with Down Syndrome?
What is the recommended evaluation for cardiac disease in newborns with Down Syndrome?
What is the recommended evaluation for cardiac disease in newborns with Down Syndrome?
What is the recommended frequency for hearing screening in children with Down Syndrome?
What is the recommended frequency for hearing screening in children with Down Syndrome?
What is the first-trimester biochemistry marker used for prenatal screening in Down Syndrome?
What is the first-trimester biochemistry marker used for prenatal screening in Down Syndrome?
What is the purpose of genetic karyotyping in Down Syndrome?
What is the purpose of genetic karyotyping in Down Syndrome?
Flashcards
Infertility in males with Down Syndrome
Infertility in males with Down Syndrome
Impaired spermatogenesis leads to infertility in nearly all males with Down Syndrome.
Atlantoaxial instability in DS
Atlantoaxial instability in DS
A common skeletal abnormality in Down Syndrome, diagnosed via lateral neck radiograph.
Down Syndrome Diagnosis
Down Syndrome Diagnosis
Phenotypic features and genetic karyotyping confirm the diagnosis.
Prenatal Screening Methods for DS
Prenatal Screening Methods for DS
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Biochemical Markers for DS Screening
Biochemical Markers for DS Screening
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Down Syndrome Management
Down Syndrome Management
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DS Recurrence Risk
DS Recurrence Risk
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Common DS Complications
Common DS Complications
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Cardiac disease management in DS
Cardiac disease management in DS
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Hearing screening for DS
Hearing screening for DS
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Eye exam for DS
Eye exam for DS
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Thyroid function testing
Thyroid function testing
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Celiac disease screening
Celiac disease screening
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Hematology evaluation at birth
Hematology evaluation at birth
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Atlanto-axial instability screening
Atlanto-axial instability screening
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Alzheimer's disease in adults with DS
Alzheimer's disease in adults with DS
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Study Notes
Infertility in Males with Down Syndrome
- Nearly all males with Down Syndrome (DS) are infertile due to impaired spermatogenesis.
Skeletal Abnormalities
- Atlantoaxial instability is a common skeletal abnormality in DS.
- Diagnosis is made by lateral neck radiograph, typically at 3-5 years of age.
- Other skeletal abnormalities include:
- Flat foot
- Dysgenesis of middle phalanx in little finger
- Narrow maxilla
- Clindactyly
Diagnosis
- Diagnosis is recognized by characteristic phenotypic features.
- Confirmation is made through genetic karyotyping.
- If translocation type, both parents should be screened for translocation carriers to determine recurrence risk.
Prenatal Screening
- Methods include:
- Genetic Amniocentesis
- Chorionic Villus Sampling (CVS)
- Percutaneous Umbilical Blood Sampling (PUBS)
Biochemistry
- First Trimester (9-14 weeks):
- Free beta HCG
- Second Trimester (15-20 weeks):
- Alpha-fetoprotein (AFP)
Management
- Growth measurements: plot on appropriate growth chart to prevent obesity and detect celiac disease and hypothyroidism.
- Cardiac disease: evaluate for Congenital Heart Disease (CHD) with cardiac ECHO and pediatric cardiologist consultation.
- Hearing: screen in newborn period, every 6 months until 3 years, and then annually.
- Eye disorders: perform eye exam in newborn period or before 6 months to detect strabismus, nystagmus, and cataracts.
- Thyroid function: test in newborn period, and repeat at 6 and 12 months, and then annually.
- Celiac disease: screen at 2 years, and repeat if signs develop.
- Hematology: perform CBC with DLC at birth to evaluate for leukemia.
- Atlanto-axial instability: X-ray for evidence at 3-5 years.
- Alzheimer's disease: consider diagnosis in adults, excluding thyroid disease and depression.
Counseling
- Recurrence risk:
- Trisomy 21 (nondisjunction): 1-4% (add 1% to maternal age-related risk)
Complications
- Sleep problems: sleep apnoea, other sleep disturbances
- Skeletal problems: flat foot, atlantoaxial subluxation
- Visual problems: refractive disorder, squint, nystagmus, cataract
- Hearing problems: hearing loss, conductive hearing loss, chronic otitis media
- Feeding problems in infancy, constipation, hypothyroidism, and Hirschsprung disease
- Recurrent chest infections due to decreased immunity, CHD, hypotonia, weak cough reflex, and recurrent aspiration
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