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Fluency > Genetic Contributions to Stuttering > Flashcards

Genetic Contributions to Stuttering Flashcards

1
Q

4 Factors: The Importance of Genetic Knowledge

A
  1. Increase understanding of developmental process
  2. Influences successful speech, language & reading acquisition
  3. Early ID of children at risk
  4. “personalized medicine” targeting specific deficits
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2
Q

Genetics vs genomics

A

Genetics - branch of science focusing on the means & consequences of biological inheritance
Genomics - study of whole genomes and how genes interact w/ each other and the environment

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3
Q

Nature vs. Nurture

A

All human traits have genetic and environmental components on a continuum

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4
Q

Myths

A 
Genetic determinism (traits result from specific genes)
No treatment for disorders w/ genetic components
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5
Q

Human genome

A

23 pairs of chromosomes

50% from each parent

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6
Q

Chromosome

A

Consists of tightly wound DNA & protein

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7
Q

Gene

A
  • Found along length of chromosome
  • Segment of DNA that contains instructions for making a specific protein required by the body
  • Humans have 20,000-25,000 genes
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8
Q

Allele

A

Different versions of the same gene

Everyone has two alleles for each gene

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9
Q

Methods of genetic research

A
  • Behavioural - frequency, aggregation/pedigree, occurrence
  • Statistical - segregation, twin concordance
  • Molecular - linkage, genome-wide association, next generation sequencing (whole genome or exome)
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10
Q

Genetic Mutations

A
  • Change in genetic code
  • May be harmful, neutral or beneficial
  • May be inherited from mother, father or both
  • OR de novo mutation (appears for the first time in an individual)
  • harmful genetic mutations change the DNA code such that the instructional message for protein production is also changed
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11
Q 
Behavioural Genetics (Low standard)
Proband
A

The person serving as the starting point for genetic study of a family
71% of affected probands have familiar stuttering
9% of control
=runs in families

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12
Q

Family Pedigree

A

-illustration of who in family has disorder or trait

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13
Q

Mendelian Modes of Inheritance

A

Autosomal Dominant
-One mutated gene that does not function properly is sufficient to cause the disorder

Autosomal Recessive
-Both mutated genes are required to cause the disorder

X-Linked

  • Cause by mutations in the X chromosome
  • Females (XX) w/ only 1 mutated chromosome have a working copy that can perform the needed cell functions
  • Males (XY) with a mutation on the X chromosome are more severley affected b/c they lack a normal copy
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14
Q

Non-mendelian Inheritance

A

Multifactoral inheritance

  • No single gene causes a disorder
  • Several genes interact w/ each other w/ the environment to produce disorder
    e. g. cleft lip & palate
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15
Q

Statistical Evidence (Medium Standard)

Twin concordance
Heritability
Segregation

A

Monozygotic twins - 26-63%
Dizygotic twins - 3-19%

Large twin studies (33,000)
0.7-0.8

Several studies could not reach consensus on model

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16
Q

Molecular Genetic Evidence (High Standard)

Linkage

A
  • tendency of genes located closely together on a chromosome to both be inherited
  • identify familial stuttering in closely related families (founder population, consanguineous) to increase likelihood of transmission
  • Finding on several loci (inc chromosomes 1,3,5,7,9,12,13,15,18)
17
Q

Molecular Genetic Evidence (High Standard)

Genome wide association

A
  • single nucleotide polymorphisms (SNPs)
  • Contingent negative variations (CNVs)
  • Required large numbers (1000s) of unrelated probands
  • Only 1 study right now
18
Q

Co-occurance w/ other disorders

A

=70% have oc-occuring artic, phono and/or language disorder

-may share same underlying genetic cause as stuttering

19
Q

Co-occuring Disorders

A 
Down Syndrom2
Tourette's
Fragile X
Prader-Willi
NF1
Turner Syndrome
20
Q

Is stuttering heritable? (4)

A

YES

  1. runs in families (79% may also have immediate family member)
  2. If one ID twin stutters, other does 23-63%. Fraternal - 3-19%. Identical twins 100% DNA, fraternal 50% DNA. Stuttering 70-80% heritable)
  3. few dozen chromosomes involved
  4. known genetic disorders associated w/ higher rates of disfluent speech
21
Q

Questions regarding stuttering onset

A

When does it happen?
Who is affected?
How does it happen?
What happens?

22
Q

When: Age at Onset

A

Range 16-60 months
Mean: 33.40 Months
(Boys: 33.60, girls: 32.95)

56% onsets b/t 24-36 months
84% from 18-42 months

23
Q

How: Manner of Onset

A

40% sudden (1-3 days), 33% intermediate (1-2 weeks), 28% gradual ( >2 weeks)

24
Q

Disfluencies near onset (per 100 syllables)

A

Stuttering children: 10.37

Normal Children: 1.33

25
Q

What: Secondary Xtics

A

52% of children have @ least 1:

  • facial contortions
  • eye closing
  • head tilting
  • respiratory irregularities
  • others
26
Q

What: Stuttering Severity at onset

A

Severity/Clinicians/Parents
Mild / 35% / 45%
Moderate / 45% / 27%
Severe / 20% / 28%

27
Q

What: Reported Stress at Onset

A 
Illness - 14%
Emotional Upset - 40%
Behavioural stress - 36%
Rapid lang. development - 40%
Word finding words - 43%
28
Q

What: Children’s awareness & reactions assessed through:

A
  • Parent reports
  • Children’s response to clinician probing
  • Puppet task (identification w/ fluent or non-fluent puppet - rise in awareness b/t 4 & 5)
29
Q

Rates of Persistency/Natural Recovery**

A

Time Post Onset/ % Recovery this time / Remaining Chance of Recovery / % Chronic Stuttering

2 Years / 31% / 70% / 21%
3 Years / 63% / 16% / 21%
4 Years / 74% / 5% / 21%
5 Years / 79% / 0% / 21%

30
Q

Persistence and Recovery : Gender

A

Gender / Persistent / Recovered
Male / 30% / 70%
Females / 18% / 82%
Ratio: 3.67 m/f / 1.89 m/f

31
Q

Risk For Persistence: Primary Factors

A 
Family history (65% chance follow same trend as family history if persistency or recovery)
Gender
Stuttering Trends
Duration of stuttering
Age at onset
Disfluency length
Disfluency type; Prolongations/blocks
32
Q

Risk For Persistence: Lesser Factors

A

Secondary

  • Severity
  • Secondary xtics
  • Phonology
  • Expressive language
  • Acoustic Features

Tertiary

  • Concomitant disorders
  • Awareness ; emotional reactions

Fluency (10 decks)

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