Epidemiology
This percentage of babies are born with Down Syndrome to mothers under the age of 35 years
80%
There are ___ causes of Down Syndrome.
3
Patient A and Patient B comes to the family planning clinic to discuss expanding their families.
Patient is 40 years old. She had her first child 2 years ago and he has Down Syndrome.
Patient B is 34 years old and has never had a baby.
Which patient is most at risk of having a child with Down Syndrome?
Patient A
T/F
Facial features can be used to diagnose Down Syndrome.
False
The cure for Down Syndrome is ___.
There is no cure.
The incidence of Down Syndrome is estimated to be 1 in every ___ live births worldwide.
1000
This is the least common cause of Down Syndrome. It accounts for 1-2% of cases.
Mosaicism
Patient A and Patient B comes to the family planning clinic to discuss expanding their families.
Patient is 40 years old. She had her first child 2 years ago and he has Down Syndrome.
Patient B is 34 years old and has never had a baby.
What are the risk factors for having a child with Down Syndrome in this case?
Over 35 years old, had a child with DS
Amniocentesis is highly accurate but carries a small risk of ?
Miscarriage
List 2 early intervention and developmental support methods.
Speech therapy
Physical therapy
Occupational therapy
Behavioural therapy
Special education programs
15-20% of people with Down Syndrome develop ____ in middle age.
a) Hypothyroidism
b) Alzheimer's Disease
c) Depression
d) Behavioural problems
b) Alzheimer's Disease
What is nondisjunction and in which of the causes of Down Syndrome is it implicated?
Nondisjunction is the failure of a pair of homologous chromosomes to separate at anaphase so that both chromosomes of the pair pass to the same daughter cell.
Trisomy 21
Which of the following physical characteristics can be present at birth in a baby with Down Syndrome?
a) Growth delay
b) Hypertonia
c) Hypotonia
d) Leukemia
c) Hypotonia
How quickly are results available from the FISH test?
24-48 hours
List 2 conditions that medical screenings should assess for in patients with Down Syndrome.
Hypothyroidism
GI problems
Sensory impairments
Cardiac problems
T/F
Down Syndrome is the second most common chromosomal disorder in the U.S.
False, it is the most common
Except chromosome 21, these two chromosomes may be involved in the Robertsonian Translocation theory of Down Syndrome.
Chromosomes 14 and 21
State a dysmorphic feature of the hands OR feet present in a patient with Down Syndrome.
Sandle-toe deformity (space between big toe and the one beside it)
Short broad hands
Palmar crease
T/F
Karyotype testing is definitive test that analyses the size, shape and number of chromosomes.
What is the sample used for analysis (urine, blood, stool, etc.)?
False
Blood
Why is it necessary for pharmacists to care about patients with Down Syndrome. Give 2 specific examples.
They may metabolise/eliminate drugs differently due to impaired hepatic and renal problems.
Likely to see an increase in patients with Down Syndrome.
Dose adjustment may be necessary in the case of sedatives for example.
___% of Down Syndrome cases are caused by an extra copy of chromosome 21.
95%
Trisomy 21
Nondisjunction during meiosis.
Patients with Down Syndrome can have ____ palate and the neck can be ____ and ____.
Narrow
Thick and broad
Non-invasive Prenatal Testing (NIPT)
10
Jake is a 15-year-old boy with Down Syndrome who was recently diagnosed with GAD. He started Sertraline 25 mg daily 2 weeks ago. His mother returns to the pharmacy to express her concern - “Jake has been more irritable and isn’t sleeping well since starting the medication.”
What could be the cause of Jake's irritability, knowing what you know about Down Syndrome and what can be done to resolve it?
Patients with Down Syndrome are likely to be more sensitive to antidepressants so lower dose should have been started.