30 Jan Genetic Causes of Childhood Apraxia of Speech Case Based Introduction to DNA, Inheritance, and Clinical Management Posted at 10:15h in by apraxiaadmin Thank you for watching this course! You are about to begin the quiz to submit for ASHA CEUs. Following the quiz, you will be able to see your score. Please note that only those participants who follow the instructions correctly and completely will have their course information submitted to the ASHA CE Registry. For questions about the ASHA CE Registry, visit https://www.asha.org/ce/faqs/. Course completion includes: (1) Viewing the full webinar video (2) Passing the associated quiz at 80% or better and (3) Completing the Course Evaluation. Please visit our Webinar FAQ for more information. Choose the one best answer. A mutation is The presence of an extra chromosome. A genetic change that occurs spontaneously in someone’s DNA and can be inherited by this person’s offspring. A condition that causes muteness. Two areas of DNA that are usually inherited together because they sit next to each other on a chromosome. A disorder that looks like it was caused by a certain gene but it was actually caused by an environmental influence. With 3 billion basepairs in the human genome, a change in a single nucleotide has noeffect. True False Only a small fraction of human DNA, less than 2 percent of it, actually codes for proteins. True False All children with familial childhood apraxia of speech have something wrong with one of two known causal genes, FOXP2 or BCL11A. True False Finding causal genes for speech, language, and reading disorders has been difficultbecause It’s hard to study these disorders in animal models. Someone with the causal genetic change may actually not have the disorder. It is possible that changes in several genes, not just one, must be present to produce the disorder. Speech, language, and reading abilities are not easily divided into “normal” and “below normal” – for some people, it’s not possible to label them as affected or unaffected with absolute certainty. Only a. and c. a., b., c., and d. Jamie, a boy with childhood apraxia of speech, has no biological relatives who also have or had speech difficulties. This proves that the cause is not genetic. True False Sequential processing is impaired in many people with CAS. Which of the followingstatements is true? Research has shown that working on sequencing using a wide variety of activities such as threading beads on a string and playing scales on a piano is an effective way to improve speech production. Research is needed to evaluate the effectiveness of interventions targeting sequential processing. Which of the following is NOT among the possible early warning sign of childhoodapraxia of speech in an infant: Delayed onset of babbling. Feeding issues such as dislike of certain textures and difficulties chewing. Late onset of first words and few words by age 18 months. Difficulties with joint attention during activities like looking at books. Clumsiness when learning to walk. You just diagnosed a child with childhood apraxia of speech and you suspect a genetic cause because he has a brother who also has childhood apraxia of speech. Next, you are going to: Advise the parent(s) to send the child’s saliva sample to an online direct-toconsumer service to find out which gene caused the disorder. Not qualify the child for therapy because you can’t change the child’s DNA and therapy would therefore be pointless. Not qualify the child for therapy because the child’s condition is a pre-existing condition and there would be no insurance coverage. Qualify the child for therapy and use the tried-and-true traditional hierarchical treatment (van Riper) approach. Qualify the child for treatment and select one of the therapy approaches focusing on increasing levels of complexity at the level of words and phrases. Which of the following is NOT within the professional scope of practice of a geneticcounselor: Taking a family history. Suggest genetic tests to discover genetic risk for a disorder that runs in the family. Make a diagnosis, for instance autism or intellectual disability. Calculate the probability of having a future child with a disorder that runs in the family. Discuss prevention strategies for disorders running in the family, e,g., diabetes and hypertension. Time's up Thank you for watching this course! You are about to begin the quiz to submit for ASHA CEUs. Following the quiz, you will be able to see your score. Please note that only those participants who follow the instructions correctly and completely will have their course information submitted to the ASHA CE Registry. For questions about the ASHA CE Registry, visit https://www.asha.org/ce/faqs/. Course completion includes: (1) Viewing the full webinar video (2) Passing the associated quiz at 80% or better and (3) Completing the Course Evaluation. Please visit our Webinar FAQ for more information. Choose the one best answer. A mutation is The presence of an extra chromosome. A genetic change that occurs spontaneously in someone’s DNA and can be inherited by this person’s offspring. A condition that causes muteness. Two areas of DNA that are usually inherited together because they sit next to each other on a chromosome. A disorder that looks like it was caused by a certain gene but it was actually caused by an environmental influence. With 3 billion basepairs in the human genome, a change in a single nucleotide has noeffect. True False Only a small fraction of human DNA, less than 2 percent of it, actually codes for proteins. True False All children with familial childhood apraxia of speech have something wrong with one of two known causal genes, FOXP2 or BCL11A. True False Finding causal genes for speech, language, and reading disorders has been difficultbecause It’s hard to study these disorders in animal models. Someone with the causal genetic change may actually not have the disorder. It is possible that changes in several genes, not just one, must be present to produce the disorder. Speech, language, and reading abilities are not easily divided into “normal” and “below normal” – for some people, it’s not possible to label them as affected or unaffected with absolute certainty. Only a. and c. a., b., c., and d. Jamie, a boy with childhood apraxia of speech, has no biological relatives who also have or had speech difficulties. This proves that the cause is not genetic. True False Sequential processing is impaired in many people with CAS. Which of the followingstatements is true? Research has shown that working on sequencing using a wide variety of activities such as threading beads on a string and playing scales on a piano is an effective way to improve speech production. Research is needed to evaluate the effectiveness of interventions targeting sequential processing. Which of the following is NOT among the possible early warning sign of childhoodapraxia of speech in an infant: Delayed onset of babbling. Feeding issues such as dislike of certain textures and difficulties chewing. Late onset of first words and few words by age 18 months. Difficulties with joint attention during activities like looking at books. Clumsiness when learning to walk. You just diagnosed a child with childhood apraxia of speech and you suspect a genetic cause because he has a brother who also has childhood apraxia of speech. Next, you are going to: Advise the parent(s) to send the child’s saliva sample to an online direct-toconsumer service to find out which gene caused the disorder. Not qualify the child for therapy because you can’t change the child’s DNA and therapy would therefore be pointless. Not qualify the child for therapy because the child’s condition is a pre-existing condition and there would be no insurance coverage. Qualify the child for therapy and use the tried-and-true traditional hierarchical treatment (van Riper) approach. Qualify the child for treatment and select one of the therapy approaches focusing on increasing levels of complexity at the level of words and phrases. Which of the following is NOT within the professional scope of practice of a geneticcounselor: Taking a family history. Suggest genetic tests to discover genetic risk for a disorder that runs in the family. Make a diagnosis, for instance autism or intellectual disability. Calculate the probability of having a future child with a disorder that runs in the family. Discuss prevention strategies for disorders running in the family, e,g., diabetes and hypertension. Time's up Credentials: Hours of Operation: Treatment locations: Address: , Phone: Email: Overall Treatment Approach: Percent of CAS cases: Parent Involvement: Community Involvement: Professional consultation/collaboration: Min Age Treated: Max Age Treated: Insurance Accepted:
