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.
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
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