About this Event
Overview of Webinar:
This webinar provides a case-based introduction to the world of genetics with a special emphasis on childhood apraxia of speech (CAS). Using the examples of individuals and families with CAS, basic concepts of genetics are illustrated, including chromosomes, genes, mutations, deletions/duplications, and modes of inheritance. Knowledge of genetics has many practical implications, for instance early identification of infants at risk, watching for early signs of the disorder, and developing early interventions.
At the end of the webinar series, trainees will be able to:
- Define the terms chromosome, gene, mutation, deletion, duplication, and penetrance.
- Describe causal pathway from genetic change to brain development to speech/language development in the KE family.
- Name three early signs of CAS.
- Describe the scope of practice of a genetic counselor and how parents or SLPs can make an appropriate referral for genetic counseling.
- State how knowledge of genetic etiologies is essential for developing early intervention and prevention approaches
Minutes 1 – 14 Overview of topics. Introduction. Why we should care about genetics.
Minutes 15 – 44 Case 1: A sporadic case of CAS who is missing a gene. Introduction to the language of genetics
- Cell, nucleus, chromosomes, genes
- From genes to proteins, multiple effects (peiotropy)
- When things go wrong at the chromosomal level (deletions, duplications) CAS as part of a deletion or duplication syndrome involving various genetic regions
Minutes 45 – 69 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 phenotype
- Traits related to speech, other motor functions, and information processing
- Modes of inheritance
- Single-gene vs. polygenic effects
- Penetrance, expression
Minutes 70 – 75 Case 3: One family’s quest for answers
- Interprofessional teams, genetic counselors, medical geneticists, research institutes
- Early signs of CAS, parent education, early intervention
- Why genetic testing and gene therapy are not available yet in general for families with CAS
Minutes 76 – 90 Questions and Answers
Regular Registration: $35
Professional Registration with ASHA CEU’s: $50
Beate Peter, Ph.D., CCC-SLP, is Assistant Professor of Speech and Hearing Science at Arizona State University. Her graduate training and clinical practice focused on speech-language pathology, whereas her postdoctoral training was completed in medical and statistical genetics. With this interdisciplinary background, Dr. Peter investigates the genetic etiologies of communication disorders. How do genes influence the brain, muscles, and the disorders that we observe and treat as clinicians? Using a broad set of tools including behavioral testing, brain imaging, and DNA analysis, Dr. Peter wants to find answers to this question. In the future, a better understanding of genetic causes will allow us to identify very young children at risk for communication disorders and motivate creating interventions that can be used at earlier ages than we currently imagine. Recently, Dr. Peter established the BCL11A gene as a candidate gene for childhood apraxia of speech, based on a case with a deletion involving this gene. Problems involving this gene are rare among children with communication disorders; surprisingly little is known about the causal genes in this field. Making inroads into this field is the mission of the Peter Speech/Language Genetics Lab.
Disclosure: Beate Peter, PhD, CCC-SLP will be paid a stipend for this presentation. There are no relevant financial or non-financial relationships to disclose