Genetics of Communication Disorders

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Department
Communication Sci & Disorders
Course
CSD 212
Professor
Tamayo
Semester
Fall

Description
-Genes located on 23 pairs of chromosomes -Autosomes: non-sex chromo. -Chromosomes: sex chromo. (XX or XY) -Allele: variations of same gene -Genotype -Heterozygous: Aa -Homozygous: AA or aa -Phenotype -How genotypes are physically expressed -Modes of transmission -Autosomal dominant -Autosomal recessive -X-linked -Grouping genetic disorders -Single gene disorders -Caused by mutation in single gene -Parkinson's, Huntington's -Chromosome disorders -Caused by structural changes w/in chromo. -Ex., excess/deficiency -Down Syndrome (Trisomy 21), Fragile X -Multifactorial inheritance disorders -Caused by comno of genetic & enviro. factors -Most communication disorders -Skills linked to chromosomes -Speech sound production -Non-word repetition -Semantics -Syntax -Reading -Reading decoding -Rapid naming -Spelling -Oral Motor skills -Verbal memory -Phoneme awareness -Speed of processing -Genetic studies -- questions & study types -Is the disorder inherited? -Family study -Is the disorder familial? -Twin & adoption studies -How is the disorder inherited? -Pedigree studies -Where is the gene? -Linkage analysis -What is the genetic defect? -Molecular analysis -Autism gene? -CNTNAP2 -Chromo. 7 -Neuronal organization (wires the brain) -Higher risk of ASD, epilepsy, Tourette's, etc. -KE family study -3 generations of KE family -15/37 family members had SLI [specific lang. impairment]
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