The Genetic Bases of CAS: A Clinical and Parent Perspective

31 Aug The Genetic Bases of CAS: A Clinical and Parent Perspective

Posted at 22:08h in by apraxiaadmin

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Multiple Choice: Select the one best answer

1. In 1990, based on research with an English family, what was the result?

a. CAS is the only speech sound disorder that runs in families

b. Speech sound disorders run in families

c. Speech sound disorders are not inherited

d.None of the above.

2. Based on current research, approximately what percentage of children with CAS are estimated to have a genetic link?

a. Less than 25%

b. At least 33%

c. More than 50%

d. At least 75%

3. Which statement is true:

a. Each person has 23 pairs of chromosomes which each contain hundreds or thousands of genes.

b. Each person has 23 pairs of genes which each contain hundreds or thousands of chromosomes.

c. The human body contains 100,000 genes.

d. The human body contains 100,000 chromosomes.

4. This testing is usually the first genetic test conducted that examines chromosome level changes such as duplications and deletions:

a. Whole genome mapping

b. Whole Exome Sequencing (WES)

c. Microarray karyotype

5. Types of syndromes that are associated with CAS can be caused by:

a. Chromosomal microdeletions

b. Chromosomal deletions

c. Chromosomal duplications

d. Single gene conditions (de novo)

e. All of the above

6. How many different single genes have been identified that are not inherited but thought to be causative for CAS?

a. More than 5

b. More than 10

c. More than 20

d. More than 40

7. What are some possible reasons for getting genetic testing?

a. Knowing a long term prognosis

b. Knowing why a child has a speech issue

c. Identifying best therapies to support speech

d. a and b

e. a, b, and c

8. Haley used AAC for her child to help with communication skills early on.

a. True

b. False

9. Which of the following is NOT true of SETBP1 disorder that Haley’s son has:

a. It does not have a published name.

b. There is now one online support group for families of children with SETBP1

c. There are over 100 documented cases of SETBP1

d. There is now an organization to promote SETBP awareness

10. For a parent who feels speech therapy is not working for their child, what should be done?

a. Talk to the therapist about making a change in the therapeutic approach being provided

b. Stop speech therapy and just work with the child at home

c. Just wait and hope it gets better

d. Remove the child from all therapies

Time's up