prognostic and treatment rx for speech & …...prognostic and treatment rx for speech &...
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Prognostic and Treatment Rx for Speech & Language
Development in CdLSMarjorie Goodban, PhD, CCC-SLP
6th CdLS World Conference
Copenhagen, Denmark
July 29, 2011
My Background in CdLS
1982 First
Child Treated
1984 First CdLS conference
27 years Speech-Language Consultations at CdLS Conferences
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Purpose of Presentation
O Report on Speech and Language findings in
the CdLS population
O Provide strategies to stimulate for speech
and language development
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Communication Findings
in CdLS
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Database of 116 Patients (Goodban, 1993) and 50 Patients (Goodban, 2007)
with CdLS
5
c. 4%
Early communication development within
normal limits
c. 53%
4 years or older combined 2 or more
words into sentences
c. 33%
No words
by 4 years of age
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Four Groups
Based on
•Communication abilities
•Receptiveness to speech therapy
•Developmental history
There will be exceptions in all
Groups6th CdLS World Congress, Denmark 6
Group I: “Talkers” O (3-4% of 1993 database )
O Normal or near normal motor development and developmental milestones
O Sit up independently at or by 18 months
O Walk at or by 30 months
O Normal or near normal development of
communication skills
O Usually begin talking on own
O Good social relatedness
O No hearing loss
O No upper-limb malformations
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Normal Communication Development
O Cooing by two months
O Babbling by 5 months
O First word by 12 months
O 10-20 word vocabulary by 18 months
O Jargoning (melody of the sentence without “words” ) at 12-18 months
O Five-six word sentences by 5 years
O 200 word vocabulary by two years; 800 by three years; 2500 by six years
O 90%-100% intelligible by three-four years
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Early Communication Behavior in CdLS
O Parents typically report cooing and babbling are not present or only occur for 1-2 days
O Repertoire of consonants during babbling usually very limited: perhaps only consonants, “m,d,” rather than the normal “m,b,p,d,t,n,g,k”
O Some jargoning (melody of the sentence without “words” ) observed in higher level children, after the acquisition of c. 5 words, or at c. 30 mos, compared with 14 mos. in normal
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Group II: “Late Talkers”O (35-40% in 1993 database )
• Moderate delays in motor and other developmental skills
• Sit 18 months
• Walk 30 months
O Moderate delay in speech and language
O First words emerge between 12-48 months for some, others not until 5-8 years
O Short sentences emerge 36 months - 12 years
O Will eventually use 2-5 word sentences
O Good word imitation skills
O Normal hearing or slight hearing loss
O Short attention span but good eye contact 6th CdLS World Congress, Denmark 10
Comparison of Vocabulary Growth in Normal Population and CdLS
population by Group II
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Typical Speech Sound Errors
O Many consonants are distorted or omitted or other sounds are substituted for them
Result: “_a_/cat”
O Front sounds, such as “t,” often substituted for back sounds, such as, “k”
Result: “tat/cat”
O Final consonants are frequently dropped
O Work on language before working on speech
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• Motor skills develop later than for Group II
• Verbal skills do not develop as early or as well• First words 7-10
years • later words at 11-
12• Social skills not as
good
Group III: “Limited Talkers”(20-25% in 1993 database)
Group IV: “NonTalkers”
(25-30% in 1993 database)
One or more of following:
O Upper-limb malformation
O Moderate-to-severe hearing loss,
often sensorineural
O Autistic behaviors:
O Severe impairment in social relatedness
O Severe impairment in oral language
O Repetitive, abnormal behaviors
O Severely delayed motor skills: may not walk until after 4-5 years
O Group IV: No verbal communication6th CdLS World Congress, Denmark 14
Features Associated with Acquisition of Oral Communication
• Sitting up at or by 18 months
• Walking at or by 30 months
• No history of moderate to severe hearing loss,
particularly sensori-neural hearing loss
• Good social relatedness
• No upper-limb malformations
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Features Associated with Lack of Oral Communication
• Moderate-to-severe hearing impairment, often sensori-
neural
• Upper limb malformations
• Severe motor delay
• Sitting up later than 18 months
• Walking later than 30 months
• Deficits in social relatedness
• Classic symptoms of autism
• Lack of shared joint attention6th CdLS World Congress, Denmark 16
Other Communication
Findings in CdLS
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Unusual History of Babbling• Parents of children with CdLS typically report their
children never cooed or babbled
• If babbling did occur, parents report it occurred for only 1-2 days
• This lack of babbling is suggestive of very different brain development in children with CdLS
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Unusual and Surprising Results of Hearing Tests
O Parents frequently report
O Test results indicate deaf at birth
O Moderately hearing impaired at 12 months
O Normal at 18 - 24 months
O These are highly unusual test results
O Individuals do not go from deaf to normal
O Auditory neuropathy?
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Auditory Neuropathy (AN)?
O Is this the cause of the unusual hearing test
results?
O If so,
O Normal populations with AN report that
although they can hear speech, they can not
always understand it, especially in the
presence of background noise
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Hearing Loss
O Most of the children are diagnosed with a hearing loss
O Approximately 8% have sensori-neural losses
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O Parents need to be aware of
the unusual results of
hearing tests
O If parents think their child is
deaf, they may not talk
during feeding, bathing, and
other activities
O Result is a loss of language
stimulation
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My Child Seems to Hear Better than Hearing Tests Would Indicate
Many parents
report their child
hears better than
test results
indicate
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Auditory Processing
O Not necessarily related to hearing acuity
O More time needed to process what is heard
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Characteristic Vocal QualityO Most children with CdLS
exhibit an unusual vocal quality
O Guttural, hoarse, and low in pitch, with occasional dips into glottal fry
O Overall loudness and range of vocal inflection is typically limited
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Vocal Quality
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Some have a more noticeable difference in vocal quality.
No relationship between vocal quality and development of speech
GERD and hearing loss may contribute to some vocal quality differences
Childhood Apraxia of Speech (CAS)
Difficulty executing, coordinating, and sequencing the oral-motor movements for speech
Absence of paralysis or weakness
Reflexive or vegetative movements present
Impaired voluntary control of oral-motor movements
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Oral-Motor Abilities
O Oral-motor apraxia is commonO Difficulty imitating or producing voluntary
movements of the mouth, in the absence of paralysis or weakness
O Child can execute vegetative movements such as eating, retrieving food from the upper lip, social smiling
O Great difficulty with voluntary movements, such as imitation of lip or jaw movements, and sounds
O Groping movements of mouth, puzzled look
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Similarities between CAS and CdLS:
Abnormal Histories of Babbling
O Limited or little babbling
O “Pop-outs”O Levels above previous productions
O Produced only a few times
O Cannot imitate when asked to do so
O Better receptive language
than expressive language
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Reduced Speech Intelligibility
Soft, muffled voices
Missing or distorted consonants
Limited vocal inflection
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Factors Contributing to Reduced Speech Intelligibility
Structural differences of the oral cavity
Overall developmental
delay
Oral clefts, if present
Childhood apraxia of
speech
Hearing loss, if present
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Structural Differences of the Oral Cavity
Retro-micrognathia
•Lower jaw retruded and smaller, placing the tongue farther back in the mouth
•The overall size of the oral cavity is reduced, limiting optimal resonance
High Arched Palate, Cleft Palate, Cleft Lip, Submucous Cleft
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High arched palate is common and has a reported frequency occurrence of 86%
Clefts of the palate are somewhat common (20%) and usually result in nasality
Submucous clefts and clefts of the soft palate are not common & usually result in nasality; isolated cleft lip is rare
HyperNasality & Cleft Palate
O Hypernasality: excessive resonance or
sound vibration in nasal cavity, usually
associated with cleft palate or submucous
cleft
O Cleft palates are common in CdLS
O Voice will sound even more muffled
O Nasal emission of air may be heard,
especially on consonants like “s,d,p”
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Expressive language delays/disorders
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96% show moderate-to-severe language delays
Asynchronous development of language skills
Similar findings in Down Syndrome and Fragile X
Syndrome
Words are not LanguageO The ability to use words
does not guarantee child with CdLS will be able to use normal grammatical structures
O Children with CdLS who acquire minimum of 30-50 words are usually able to use simple, short sentences
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O Full grammatical abilities
do not usually develop,
such as the ability to
transform words into the
standard question form
O Syntactic skills are below
that expected, given total
number of words in child’s
vocabulary
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Asynchronous Development of Language Skills
Aspects of language
development in CdLS show
uneven development or
asynchronies, with receptive
language skills being much
higher than expressive
language skills
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Difficulty Producing “Question Form”
• Beginning at age 3 years, normally developing
children use the “question transformation”
• “Mommy is going bye-bye.”
• “Is mommy going bye-bye.”
• Groups II – IV do not produce the question form
without cueing and prompting
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Social Relatedness in CdLSO Most are not “talkers”
O Usually do not develop mediating language
O In contrast, children with Down syndrome are said to be very social
O Higher than normal incidence of selective mutism
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Good Social Skills with Upper-Limb Malformations
O Good social relatedness with upper-limb malformations
O Ameliorates negative factor of limb malformations
O Approximate vocabulary of 50-70 words
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J. S., 20 years of age
Classic Symptoms of Autism also seen in CdLS
O 25% -30% appear to have the classic symptoms of autism (Kanner 1943)
O Main features are
O Severe impairment in social
relatedness
O Severe impairment in oral language
O Repetitive, abnormal behaviors
O These behaviors are not characteristic of
developmental delays (DD)6th CdLS World Congress, Denmark 42
ASD Also Characterized by Absence of Shared Joint Attention
O Joint attention is the process of sharing one’s
experiences of observing an object or event, by
following one’s gaze or pointing gestures
43
• What is Joint Attention?• Child and caregiver share appropriate gazes
and warm facial expressions
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Joint attention is critical for social development,
language acquisition, and cognitive development
Includes appropriate sharing of interest or
enjoyment: child and caregiver share
appropriate gazes and warm facial expressions
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45
Normal children both initiate and respond to joint attention bids
Shared joint attention is a diagnostic indicator of autism
Differentiates among normal, autistic, and developmental delay
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Development of Joint Attention in Typically Developing Infants
46
3 – 6 months:
Responds to joint attention
6 – 9 months:
Initiates joint
attention
12 months: Sustained periods of
joint attention
18 months:
Exhibits full-blown
joint attention
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Examples of Early Nonverbal, Prelinguistic Behaviors in the Typically Developing Infant
O Smile at parents by fourth day after birth
O Between 3 and 6 months, begin to engage in aspects
of joint attention
O At nine months, smile at parents without looking away
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Treatment Recommendations
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• Focus in speech
therapy
• Speech sounds
• Grammar
• Loudness
• Social language
• Educational
placement in
regular classroom
Treatment for Group I: “Talkers”
Treatment for Group II
O Typical therapy procedures include
O Imitation, moving from gross
motorvocal speech sounds words
phrases
O Speech-language stimulation
O Gestures & sign language facilitate
learning
O Self-talk, parallel talk, expectant waiting
by therapists and caregivers
O Drill and repetition for longer utterances
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Therapy for Oral-Motor ApraxiaO Presentation of single, simple word/sound
O Highly inflected or musical
O P-r-o-o-o-l-o-o-o-n-g each syllable 2 seconds
O Numerous presentations of same word
O Use gestures, hold object near mouth
O Encourage child to use same gestures
O Expectant waiting
O Tap out each syllable
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Therapy for Oral-Motor Apraxia
Presentation of single, simple word/sound
Highly inflected or musical
P-r-o-o-o-l-o-o-n-g each syllable 2 seconds
Numerous presentations of same word
Use gestures, hold object near mouth
Encourage child to use same gestures
Expectant waiting
Tap out each syllable
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Selective Mutism
O Total lack of speech in one situation, despite the ability to speak in other settings
O Duration of at least one month
O Underlying anxiety assumed
O Multidisciplinary team approach to treatment led by a psychologist
O Behavioral methods guide primary treatment approach
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Treatment Options for Groups III-IV
O Communication Board or Ring
O Picture Exchange Communication System (PECS)
O Object Communication
• Augmentative/Alternative Communication
• Sign language
O Oral-Facial Stimulation and Feeding Therapy
O May also be appropriate for some in Group II
O Treatment Programs for autistic, deaf/blind
O Group III: Therapy for apraxia6th CdLS World Congress, Denmark 54
Important NoteO Children with disabilities are likely to
become passive and give up on all communication attempts
O Often the few attempts they do make are not noticed or are misunderstood
O Advise caregivers to react to child’s posture and body shifts & vocal behaviors
O Touch shoulders, say, "I see you are raising your shoulders, do you want up?” Then pick up the child
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Aided and Unaided Communication Systems
UNAIDED AIDED
O Unaided systems rely on the user’s body to convey messages:
O FACIAL EXPRESSIONS
O GESTURES
O SIGN LANGUAGE
O Aided communication systems require tools in addition to the user’s body:
O COMMUNICATION BOARDS
O VOICE OUTPUT COMMUNICATION AIDS (VOCAs)
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Recommend the Use of Sign Language or Gestures
O Sign language facilitates the development of language
and should not slow the development of oral language
O Children with disabilities are likely to become passive and give up on all communication attempts
O Often the few attempts they do make are not noticed or are misunderstood
O Advise caregivers to react to child’s posture and body shifts & vocal behaviors
O Touch shoulders, say, "I see you are raising your shoulders, do you want up?” Then pick up the child
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Develop a Picture Exchange System
O Begin with one or two clear pictures or
photographs of desired objects
O Begin to pair these pictures with the desired
object
O Can child look at, point to, or otherwise use
the picture to indicate what he or she
wants?
O Pictures may be laminated and placed on
large steel ring
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Electronic Devices
O To find the best AAC system for the child
O An assessment needs to be conducted,
which takes into account:
O Characteristics of the child
O Potential advantages and obstacles
that exist in the environment
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Many Choices
iPad 2, about $800, with
PROLOQUO2GO App Dynavox, about $6000
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General Recommendations
O Early communication assessment and treatment
O For hearing problems, consult physician/audiologist familiar with infants
O Parents report important to keep ear canal clean
O Cleft lip and palate should be closed as with any child
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General Recommendations
O For bilingual families, I do not recommend
that therapy be limited to only one language
O Not necessary for child to have eaten
normally in order for talking to occur
O Gestures/sign language encouraged
O For child with autistic-like behaviors: age appropriate toy or object
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Treatment Protocol
O Also see my Treatment Protocol
on the www.cdlsusa.org website
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THANK YOU!
Individuals with and Families of Individuals with CdLS
Elmhurst College
National Cornelia de Lange Syndrome Association, USA
International Cornelia de Lange Syndrome Association
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ReferencesO Goodban, M.T. (1993) Survey of speech and language
skills with prognostic indicators in 116 patients with
CdLS. Am J Med Genet 47:2059-2063.
O Nine doctors present research update at Arizona
convention (1994). Reaching Out: The Newsletter of the
CdLS Foundation. XIII: 4, p.11.
O Goodban, M.T. (2007). Prelinguistic predictors of
language outcomes at 4 years of age in CdLS. Paper
presented at the 4th CdLS World Conference, Niagara
Falls, Canada.
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O Osterling, J., Dawson, G., Munson, J. (2002). Early recognition of 1-year old infants with autism spectrum disorder versus mental retardation. Development and Psychopathology, 14:239-251, Cambridge University Press.
O Wetherby, A., Woods, J., Allen, L., Cleary, J., Dickinson, H., &
Lord, C., (2004). Early indicators of autism spectrum
disorders in the second year of life. J. Autism Dev. Disorders,
34, 473-493.
O Wetherby, A., Shumway, S., Watt, N., Morgan, L. (2005). Presentation International Meeting Autism Research, Boston.
O Wetherby, A., Prizant, B., Hutchinson, T. (1998). Communicative, social/affective , & symbolic profiles of young children with autism and pervasive developmental disorders. Am. J. Speech-Language Pathology, Vol 7, 79-91.