Prognostic and Treatment Rx for Speech & …...Prognostic and Treatment Rx for Speech & Language...

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

26th CdLS World Congress, Denmark

Purpose of Presentation

O Report on Speech and Language findings in

the CdLS population

O Provide strategies to stimulate for speech

and language development

6th CdLS World Congress, Denmark 3

Communication Findings

in CdLS


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


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


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


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


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


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


• 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


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


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


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?


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


Hearing Loss

O Most of the children are diagnosed with a hearing loss

O Approximately 8% have sensori-neural losses


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


My Child Seems to Hear Better than Hearing Tests Would Indicate

Many parents

report their child

hears better than

test results

indicate


Auditory Processing

O Not necessarily related to hearing acuity

O More time needed to process what is heard


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


Vocal Quality


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


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


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


Reduced Speech Intelligibility

Soft, muffled voices

Missing or distorted consonants

Limited vocal inflection


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



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


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”


Expressive language delays/disorders


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


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


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


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


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


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

6th CdLS World Congress, Denmark41

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


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


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


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


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


Treatment Recommendations


• 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


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


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


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


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


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)


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


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


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


Many Choices

iPad 2, about $800, with

PROLOQUO2GO App Dynavox, about $6000


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


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


Treatment Protocol

O Also see my Treatment Protocol

on the www.cdlsusa.org website


http://www.cdlsusa.org/

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


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.



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.

Prognostic and Treatment Rx for Speech & …...Prognostic and Treatment Rx for Speech & Language...

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