Down Syndrome Characteristics

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Questions and Answers

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?

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 6 months

At 12 months

At 2 years (correct)

At birth

What is the primary purpose of performing a CBC with DLC at birth?

To evaluate for leukemia Signup and view all the answers

When should an X-ray be performed to evaluate for atlanto-axial instability?

At 3-5 years of age Signup and view all the answers

What is the recurrence risk for children to have Down syndrome if a sibling has the condition?

1-4% Signup and view all the answers

At what age does an adult with Down syndrome typically exhibit symptoms of Alzheimer's disease?

Middle age Signup and view all the answers

Why is it essential to exclude thyroid disease and possible depression when considering a diagnosis of Alzheimer's disease?

To rule out other conditions Signup and view all the answers

What is a common feeding problem in infants with Down syndrome?

Chocking with feeds Signup and view all the answers

Which of the following is a skeletal abnormality associated with Down syndrome?

Atlantoaxial subluxation Signup and view all the answers

Why are individuals with Down syndrome at increased risk of respiratory infections?

Due to weak cough reflex Signup and view all the answers

What is a common nutritional deficiency in individuals with Down syndrome?

Vitamin B12 deficiency Signup and view all the answers

What is a characteristic growth pattern in Down syndrome?

Disproportionate weight gain in early childhood Signup and view all the answers

What is a common reproductive health issue in women with Down syndrome?

Uncomplicated pregnancies Signup and view all the answers

What is a sleep disorder associated with Down syndrome?

Sleep apnoea Signup and view all the answers

What is a common visual problem in individuals with Down syndrome?

Refractive disorder Signup and view all the answers

What is the primary cause of infertility in males with Down Syndrome?

Impaired spermatogenesis Signup and view all the answers

What is the age range for screening for atlantoaxial instability in individuals with Down Syndrome?

3-5 years Signup and view all the answers

Which of the following is a characteristic skeletal abnormality in Down Syndrome?

Dysgenesis of middle phalax in little finger Signup and view all the answers

What is the purpose of plotting growth measurements in children with Down Syndrome?

To prevent obesity and early diagnosis of celiac disease and hypothyroidism Signup and view all the answers

What is the recommended evaluation for cardiac disease in newborns with Down Syndrome?

Cardiac ECHO Signup and view all the answers

What is the recommended frequency for hearing screening in children with Down Syndrome?

Every 6 months until 3 years of age Signup and view all the answers

What is the first-trimester biochemistry marker used for prenatal screening in Down Syndrome?

Free beta HCG Signup and view all the answers

What is the purpose of genetic karyotyping in Down Syndrome?

All of the above Signup and view all the answers

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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Description

This quiz covers the physical and developmental characteristics of individuals with Down Syndrome, including infertility and skeletal abnormalities.