Genetic Language Disorders

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Genetic Language Disorders
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Pervasive Problem

• 8-12 of school-age children have
• delayed
• -or-
• disordered
• communicative development
• (National Institutes of Health, 1995)

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s, sh, th, r

• sark
• krittopher
• brodder
• sower
• baf
• westwoom

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Developmental Disorders

• Caused mainly by
• hearing loss
• mental impairment (intellectual disability)
• Down Syndrome
• Williams Syndrome
• Fragile X Syndrome
• motor impairments
• Can also be delayed due to
• pervasive developmental disability (including
  autism)
• attention deficit disorder
• central auditory processing disorder
• Specific Language Impairment

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Specific Language Impairment (SLI)

• Definition significant language impairment with
  no other developmental delays
• Diagnosed based on problems with
• verb morphology, nonword repetition, phoneme
  discrimination
• 6 of girls and 8 of boys have SLI
• based on monolingual English-speaking classes
• only 29 of cases had been previously diagnosed
  (Tomblin et al., 1997)

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Kids with SLI

• Troy This is the fireperson. This is the bell.
  (indicating alarm)
• Mom Does the bell ring in an emergency?
• Troy No. The bell, it hasthe car come out.
• Mother The cars come out when the bell rings?
• Troy The telephone do that, too!
• 47 Plante Beeson, 1999

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Kids with SLI

• So a circus was there and they had these other
  hands. He had these other people in it, so he
  first got in a train, and so he didnt get in the
  train cause he could fly, so he, Mr. Tyler. he
  was happy, he didnt care if the train was broke
  down, and so this little guy, Timothy, a little
  mouse, he gets on and they found a boat, so they
  sailed on the boat, and so hippopotamus, no, the
  elephant had to go up in a tiny bed, so the bed
  broke down and they try to ...
• 9 y.o. Nelson, 1998

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Adults with SLI

• Its a flying finches, they are
• She remembered when she hurts herself the other
  day
• The neighbors phone the ambulance because the man
  fall off the tree
• They boys eat four cookies
• Carol is cry in the church
• (Pinker, 1994 compares their speech to that of
  tourists struggling in foreign cities)

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SLI Vocabulary

• Vocabulary lags behind by 1 year
• Age 2 no two-word phrases, lt 15 words
• Slow word mappers (2x as many repetitions)
• But not all late talkers have SLI!
• ½ to ¾ of late talkers catch up
• less likely to catch up with family history of
  speech language delay

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SLI Vocabulary

• More generic words (thing, do), slow with
  naming tasks, use circumlocutions
• something round and English for English
  muffin
• Cant deal with ambiguous words - only have
  access to first meaning retrieved
• The noise of the fans disturbed the boy
• labeling a fried egg as a brain

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SLI Morphosyntax

• Trouble with inflectional morphology
• plurals
• possessives
• tense markers
• auxiliary verbs
• the copula (to be)
• prepositions
• complementizers (to, that)
• I heard that you left
• I need to go now
• pronouns (e.g., me for I)
• Similar Mean Length Utterance to normal children

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How do wugs gling the fripper? and SLI

• This is a wug.
• Now there is another one.
• There are two of them.
• There are two _____.

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How do wugs gling the fripper? and SLI

• This is a wug.
• Now there is another one.
• There are two of them.
• There are two _____.
• Wugwugness, isnt it? No. I see. You wait to
  pairpair it up. Ok.
• (zat) Zakazazackle
• (zoop) zoop-es
• (tob) tob-ye-es
• SLI patients often fail the wug-test!

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Mistakes they dont make

• Patients with SLI still never substitute
• no for nose (but do substitute know for knows)
• car for card
• deficits due to grammar, not sound
• Able to detect verb phrase violations
• The nice girl gives
• The girl eats a cookie to the boy
• some grammatical knowledge retained

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SLI Pragmatics

• literal interpretation
• liar refers to anyone who says anything
  inaccurate regardless of intent to deceive
• trouble giving / understanding requests
• Your snack looks good
• Yes and it tastes good, too!
• John, the children cant see the board.
• Oh, whats wrong with their eyes?
• trouble inferring emotional state, needs for
  information / clarification
• Mother The cars come out when the bell rings?
• Troy The telephone do that, too!
• less adept at entering/guiding conversations,
  narratives (e.g., Dumbo story)

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Concomitant Problems

• Kids with SLI often have
• slow, effortful speech
• articulation problems
• repetition of sounds words (labeled as
  stutterers)
• clumsiness, trouble controlling facial muscles
• more time needed (30) to perform
  perceptual/motor tasks

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KE Family, a genetic link (Gopnik, 1991)

• KE family - Identified a mutation in a gene that
  disrupts grammar FOXP2
• 1st generation grandmother
• 2nd generation 4 impaired, 1 normal
• 3rd generation 11 impaired, 12 normal 0
  impaired, 4 normal
• Randomly distributed among sexes and birth orders
• If FOXP2 disrupted in birds, syntax of birdsong
  impaired

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Twin Studies

• Identical four-year-old twins are more likely to
  mispronounce the same words than fraternal twins
• Evidence for genetic component
• SLI if one twin has it
• 80 chance that identical twin will have SLI
• 35 chance that fraternal twin will have SLI

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Is SLI universal?

• English the root is the simplest form
• walk
• Spanish the root form cant be legally used in
  conversation
• camin-
• camino, caminamos, camina
• Differences depend on what forms are
• most regular
• easiest to hear
• Whats universal? Slow poor language learning

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Brain Imaging for SLI

• fMRIs for Children with SLI (Jernigan et al.,
  1991)
• Brocas area significantly smaller
• Rightward asymmetry of language structures
• ERPs deficits in acoustic analysis and
  phonological processing

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Models of SLI

• Deficit in temporal processing of auditory
  signals (Tallal Stark, 1981)
• Kids with SLI have trouble with rapid changing
  stimuli (auditory and visual)
• Italian, feminine articles produced more
  accurately
• (la and una) gt (il and un)

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An example of processing speed

• This is a spectrogram of slow speech
• Within 100 ms, get 3 phonemes, /r/, /e/, and /k/
• What sounds might not be processed?

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Treatment

• Training on modified phonemes, for slower
  transitions
• pure vowels /a/ - 100 ms
• stops /b/, /d/, /g/, /p/ - 40 ms transition ?
  300-500 ms
• /m/ - 300 ms transition
• Gradually train on less exaggerated speech
• Follow individual progress

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Models of SLI

• Grammar-specific deficit (Crago Gopnik, 1994)
• SLI patients lack the underlying grammatical rule
  systems
• cant induce the rules of grammar
• leads to incomplete syntax
• Treatment rote memorization of syntactic
  structures

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Treatment for SLI

• Effective Modeling (Nye et al., 1987)
• Adult models target form, child creates
  utterances with target.
• Clinician I am rolling the clay. I am pounding
  the clay. I am stretching the clay. What are
  you doing?
• Child I am smushing the clay.
• Most effective Imitation (Law, 1997)
• Child repeats model presented by therapist.
• Clinician I am rolling the clay. You are, too.
  Say, I am rolling.
• Child I am rolling.

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Mental Impairment (1 of kids)

• Down Syndrome - weak linguistic performance,
  compared to mental age
• Williams Syndrome nearly intact, compared to
  mental age, but miss social cues
• Fragile X Syndrome impaired articulation and
  fluency, slow talkers

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Down Syndrome vs. Williams

• Down Syndrome, age 18, IQ 55
• The frog is in the jar. The jar is on the floor.
  The jar is on the floor. Thats it. The stool is
  broke. The clothes is laying there.
• Williams Syndrome, age 17, IQ 50
• Once upon a time when it was dark at nightthe
  boy had a frog. The boy was looking at the
  frogsitting on the chair, on the table, and the
  dog was looking throughlooking up to the frog in
  a jar. That night, she sleeped and slept for a
  long time, the dog did. But the frog was not
  gonna go to sleep (Bellugi et al, 1999)

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Analysis of Language Deficits

• Abnormalities in the hippocampus and cerebellum
  that affect
• Attentional capacity
• dont attend to relevant stimuli in environment
• Information storage retrieval mechanisms
• Ability to generalize knowledge to new situations
• Depressed short-term and long-term memory
  especially for auditory stimuli
• Williams Syndrome good short-term memory
• Owens (2002)

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Language with Down syndrome

• Delay, not deviance (for 1st several years)!
• Language skills follow normal path of development
• Age 3 20 months behind
• Age 4 more than 2 years behind
• Auditory/verbal working memory skills predict
  success in language growth
• If strong visual memory can achieve literacy
  skills through whole word recognition

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Language with Down Syndrome

• More delays in syntax than in vocabulary
• Omit more function words than normal children
• Comprehension of syntax impaired
• Comprehension production abilities closely
  matched

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Teaching Methods

• Biggest difficulty generalization!
• Best interventions involve
• overlearning repetition
• training on rehearsal strategies for new
  information
• training in natural environment
• starting early

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Stutteringa little history (from
www.stuttering.org)

• For most of this century, experts believed that
  stuttering had psychological roots
• The physical act of stuttering, they said, was
  just the tip of the iceberg, and the stutterer
  had to deal with the shame and guilt beneath the
  surface before the problem could be resolved.
  Counseling, acceptance of the problem, and
  traditional speech therapies were common
  treatments
• Famous Stutterers include Aristotle, Charles
  Darwin, Moses, Marylin Monroe, and Isaac Newton

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Stuttering

• Genetic component
• Usually appears when child is 2-4 y.o., often
  during stressful time
• May be language-specific
• (occur in 1 language, but not another)
• Vocal cord tension unusually high
• May disappear when singing or talking in a funny
  voice

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Theories of Stuttering

• Right hemisphere has taken too much control over
  articulators
• Faulty feedback between signal initiating
  articulation and feedback signal
• Too much tension in the vocal cords
• (stress/tension directed there)
• Mis-timing during the articulation process