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Genetic Causes.Pdf 1 September 2015 Genetic causes of childhood apraxia of speech: Case‐based introduction to DNA, inheritance, and clinical management Beate Peter, Ph.D., CCC‐SLP Assistant Professor Dpt. of Speech & Hearing Science Arizona State University Adjunct Assistant Professor AG Dpt. of Communication Sciences & Disorders ATAGCT Saint Louis University T TAGCT Affiliate Assistant Professor Dpt. of Speech & Hearing Sciences University of Washington 1 Disclosure Statement Disclosure Statement Dr. Peter is co‐editor of a textbook on speech development and disorders (B. Peter & A. MacLeod, Eds., 2013), for which she may receive royalty payments. If she shares information about her ongoing research study, this may result in referrals of potential research participants. She has no financial interest or related personal interest of bias in any organization whose products or services are described, reviewed, evaluated or compared in the presentation. 2 Agenda Topic Concepts Why we should care about genetics. Case 1: A sporadic case of CAS who is missing a • Cell, nucleus, chromosomes, genes gene. Introduction to the language of genetics • From genes to proteins • CAS can result when a piece of DNA is deleted or duplicated Case 2: A multigenerational family with CAS • How the FOXP2 gene was discovered and why research in genetics of speech and language disorders is challenging • Pathways from genes to proteins to brain/muscle to speech disorder Case 3: One family's quest for answers • Interprofessional teams, genetic counselors, medical geneticists, research institutes • Early signs of CAS, parent education, early intervention • What about genetic testing? Q&A 3 “Genetic Causes of CAS: Case-Based Introduction to DNA, Inheritance and Clinical Management,” Presented by: Beate Peter, PhD, CCC-SLP, September 29, 2015, Sponsored by: CASANA 2 Why should you care about genetics? 4 If you are a parent of a child with childhood apraxia of speech … 5 When she was in preschool, He doesn’t have any friends. she would always play by They all run away from him. herself. I asked her, Why don’t He brought one if Thomas you go play with the other trains to preschool as a gift, girls? She didn’t want to, hoping that the other kids because the other girls would talk to him. wouldn’t know what she was saying. Mom of a 4‐y‐o with a diagnosis of childhood Mom of a 6‐y‐o with diagnosis apraxia of speech of childhood apraxia of speech If I had known how hard this would be, I wouldn’t have had any more kids. Mom of a 4‐y‐o with a diagnosis of childhood apraxia of speech and 2‐y‐old twins with speech problems “Genetic Causes of CAS: Case-Based Introduction to DNA, Inheritance and Clinical Management,” Presented by: Beate Peter, PhD, CCC-SLP, September 29, 2015, Sponsored by: CASANA 3 “Thank you so much for doing the research to see if we can find a way to identify speech risks while the child is still young and can start speech therapy at an earlier age.” Mother of a 14‐year old with severe CAS 7 • … You want to know why your child has CAS • You wonder about your own DNA • You want to know what your odds are of having another child with CAS • You want to help researchers find the link between DNA and speech disorders so that other children can receive extra early interventions • Perhaps you have many other reasons 8 If you are a clinical service provider … 9 “Genetic Causes of CAS: Case-Based Introduction to DNA, Inheritance and Clinical Management,” Presented by: Beate Peter, PhD, CCC-SLP, September 29, 2015, Sponsored by: CASANA 4 … You see disorders with a genetic etiology on a daily basis • Angelman syndrome • Autism • Cardio‐velar‐facial syndrome • Charcot‐Marie‐Tooth disease • CHARGE syndrome (Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and/or development, Genital and/or urinary abnormalities, and Ear abnormalities and deafness) • Clefting • Dyslexia • Fragile X • Fronto‐temporal dementia • Hearing impairment • Huntington’s disease • Language impairment • Parkinson disease • Prader‐Willi syndrome • Rett syndrome • Rolandic epilepsy • Speech sound disorder • Trisomy 21 • Usher syndrome • Waardenburg syndrome • Williams syndrome • … 10 “In my experience, the referral for genetic counseling is often initiated by an SLP who noticed something about the patient that everyone else had missed. Maybe this is because speech and language involve such complex behaviors.” Meg Hefner, M.S., Genetic counselor and Associate Professor, St. Louis University 11 Genetics for Clinicians • Better understanding of your client’s disorder • Better idea of what the prognosis might be • Better information about whether or not to qualify for intervention and if yes, what kind • Better equipped to know when to refer to a genetics professional • Better equipped to educate parents to look for early signs of the familial disorder 12 “Genetic Causes of CAS: Case-Based Introduction to DNA, Inheritance and Clinical Management,” Presented by: Beate Peter, PhD, CCC-SLP, September 29, 2015, Sponsored by: CASANA 5 13 http://www.nchpeg.org 14 National Coalition for Health Professional Education in Genetics BASELINE COMPETENCIES At a minimum, each health‐care professional should be able to: a. examine one’s competence of practice on a regular basis, identifying areas of strength and areas where professional development related to genetics and genomics would be beneficial. b. understand that health‐related genetic information can have important social and psychological implications for individuals and families. c. know how and when to make a referral to a genetics professional. 15 “Genetic Causes of CAS: Case-Based Introduction to DNA, Inheritance and Clinical Management,” Presented by: Beate Peter, PhD, CCC-SLP, September 29, 2015, Sponsored by: CASANA 6 1. KNOWLEDGE All health professionals should understand: 1.1 basic human genetics terminology. 1.2 the basic patterns of biological inheritance and variation, both within families and within populations. 1.3 how identification of disease‐associated genetic variations facilitates development of prevention, diagnosis, and treatment options. 1.4 the importance of family history (minimum three generations) in assessing predisposition to disease. 1. 5 the interaction of genetic, environmental, and behavioral factors in predisposition to disease, onset of disease, response to treatment, and maintenance of health. 1.6 the difference between clinical diagnosis of disease and identification of genetic predisposition to disease (genetic variation is not strictly correlated with disease manifestation). 1.7 the various factors that influence the client’s ability to use genetic information and services, for example, ethnicity, culture, related health beliefs, ability to pay, and health literacy. 1.8 the potential physical and/or psychosocial benefits, limitations, and risks of genetic information for individuals, family members, and communities. 1.9 the resources available to assist clients seeking genetic information or services, including the types of genetics professionals available and their diverse responsibilities. 1.10 the ethical, legal and social issues related to genetic testing and recording of genetic information (e.g., privacy, the potential for genetic discrimination in health insurance and employment). 1.11 one’s professional role in the referral to or provision of genetics services, and in follow‐up for those services. 16 2. SKILLS All health professionals should be able to: 2.1 gather genetic family history information, including at minimum a three‐ generation history. 2.2 identify and refer clients who might benefit from genetic services or from consultation with other professionals for management of issues related to a genetic diagnosis. 2.3 explain effectively the reasons for and benefits of genetic services. 2.4 use information technology to obtain credible, current information about genetics. 2.5 assure that the informed‐consent process for genetic testing includes appropriate information about the potential risks, benefits, and limitations of the test in question. 3. ATTITUDES All health professionals should: 3.1 appreciate the sensitivity of genetic information and the need for privacy and confidentiality. 3.2 seek coordination and collaboration with an interdisciplinary team of health professionals. 17 Case 1: Sporadic Case Age 11 No one in the extended family had CAS Late walker Late talker Muscle weakness Mild learning disability Signs/symptoms of CAS • Difficulty with DDK • Increased errors with increased word/phrase complexity What does this child’s DNA • Vowel errors have that neither of his • Groping postures parents have? • Inconsistent speech production • Still working on intelligible speech at age 11 18 “Genetic Causes of CAS: Case-Based Introduction to DNA, Inheritance and Clinical Management,” Presented by: Beate Peter, PhD, CCC-SLP, September 29, 2015, Sponsored by: CASANA 7 What are chromosomes? Cell in its membrane www.http:/[email protected] 19 Nucleus Cell membrane made transparent [email protected] 20 http://www.fitorfake.com/archives/823 21 “Genetic Causes of CAS: Case-Based Introduction to DNA, Inheritance and Clinical Management,” Presented by: Beate Peter, PhD, CCC-SLP, September 29, 2015, Sponsored by: CASANA 8 http://dna‐and‐the‐cells.blogspot.com/2010/12/ribosome‐makes‐proteins‐of‐ cell.html 22 http://hazell11bio.blogspot.com/2013/02/cell‐organelles‐and‐their‐function.html 23 Chromosomes http://www.genome.gov 24 “Genetic Causes of CAS: Case-Based Introduction to
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