1. Chapter 2
Syndromes, Developmental Disabilities, and Motor and Sensory Impairments that Affect Language and Speech

2. Objectives
Identify the primary characteristics of a variety of disorders associated with pediatric language deficits
Differentiate between sequence and a syndrome
Differentiate between the descriptive terms genetic, chromosomal, and heredity
Describe the effects of hearing loss on a child’s development of form, content, and use of language, then discuss the impact of cochlear implantation on language and speech
Discuss the impact of prematurity on cognition and language development
Discuss the effects of alcohol, nicotine, and other drugs on speech, language, and cognitive development

3. ASHA Definition of “Language Disorder”
Impaired _______________, ______ and/or other ___________. The disorder may involve (1) the form of language (phonology, morphology, syntax), (2) the content of language (semantics), and/or (3) the function of language in communication (pragmatics) in any combination.
Students need label (eligibility) based on the society that we live in. That is how children receive services in school as well as government assistance such as medicaid.

4. Genetic VS Chromosomal
Genetic - Specific characteristics or traits passed from __________________.
Genetic Disorders – Disorders carried on _____. May be ______ (gene undergoes mutation), or may be ________
Chromosomal Disorders – A disorder in the structure or number of __________ or both. May be inherited or acquired, as well.
The terms genetic and chromosomal are used as though they are synonymous.
Each human being has 46 chromosomes – 23 from the mother and 23 from the father = Any variation of this creates a problem
Chromosomal disorder ( page 39)

5. Sequence VS Syndrome
Sequence – a disorder where many of the anomalies are actually ________ disorders, caused by a ________ anomaly which sets off a chain reaction of changes in the developing embryo that result in other anomalies
Syndrome – the presence of _______ anomalies in the same individual, with all of those anomalies having a ____________.
Possible for a child to have a syndrome and a sequence, such as having Stickler syndrome in Robins sequence.
Stickler syndrome is a group of hereditary conditions characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems. These signs and symptoms vary widely among affected individuals.
A characteristic feature of Stickler syndrome is a somewhat flattened facial appearance. This is caused by underdeveloped bones in the middle of the face, including the cheekbones and the bridge of the nose. A particular group of physical features, called Pierre Robin sequence, is also common in people with Stickler syndrome. Robin sequence includes an opening in the roof of the mouth (a cleft palate), a tongue that is placed further back than normal (glossoptosis), and a small lower jaw (micrognathia). This combination of features can lead to feeding problems and difficulty breathing. (pg. 53)

6. Down Syndrome Down Syndrome is a _________________
Presence of ___ copies of chromosome ___ rather than ___.
_____ – _____ births are Down Syndrome
Cognitive ability ranges _____ to ______
Also known as trisomy 21
3 copies of chromosome #21 rather than the usual 2

7. Characteristics of Down Syndrome
Dysplagia – ________________
Prognathism – ______________
Hypotonia – ________________
Small ___________
Mouth breathers; open _____________
Large ___________
Late ____________
Hard palate is _____ and _________
Possible ______________
Motor, speech and language delays are present in ______ down syndrome children
Dysplagia – round face with development of tissue of the midface area and a prominent jaw (prognathism)
Speech Intelligibility is difficult

8. Although the degree of disability varies, all babies with Down syndrome show a ____________ with regards to their motor, speech, and language development.
Studies show little difference in the quality and quantity of vocalizations in babies with DS up to ____ months of age
Delay becomes more apparent at 12 months, and DS children often do not begin to use words until ______ months
General rule: DS achieve developmental milestones at about twice the age that typically developing children achieve milestones.
Example: DS sit at 11 months, creep at 17 months, walk at 26 months, and speak first words around 18 months

9. Oral Development
Palate

10. Speech and Language Skills
Articulation errors tend to be ________ with typical children
Voice quality ________, _______ and _______
________ is fairly common
Receptive language is _____ ______ than expressive language
Use more ________ especially when their __________ of lexicon exceed 100 words
Very ________
Language skills tend to plateau at about ___ years of age
As DS child gets older gap _________

11. Speech and Language Skills
Dissociated verbal comprehension and production
As DS child gets older gap widens
Particularly in syntax and morphology (expressive language)
Issues with vocabulary use
Typical MLU _____ words at ___ years, ____ words at ___ years, and ____ words at ___ years of age
Want to work on increasing length of utterance
Motor – low muscle tone, hypotonic, hyperflexive

12. Hearing Impairments in Down Syndrome
Small___________
Congenital malformation of the _________
Congenital malformation of the ____________
Suffer from impacted ___________
Frequent _______________
Conductive hearing loss, coupled with frequent middle ear infections can affect ______________
____ of DS children suffer a hearing loss
Page 47

13. Fragile X Caused by a long arm on the __ chromosome
AKA _________ syndrome
Mild to moderate _____________
Linked to 2-3% of all cases of ______
More prevalent in _____ than ______
1 in 1000 males; 1 in 2000 females
2nd most common genetic syndrome

14. Characteristics of Fragile X
_________________ is linked to 1/3 to ½ of the cases of mental handicaps
Characteristics are often not apparent until late in ______________.
Large ______
Prominent _____
Generally _________

15. Speech and Language Skills of Fragile X
_________ delays
Language Deficits – more _______ than __________
Auditory Reception
Grammatic Closure
Auditory sequential memory
Severity can be mild to nonverbal
Use of echolalia
Perseveration
Word Finding issues – impacts their ability to answer direct questions
Delayed syntax
Pragmatic deficits
Varied intellectual impairment – There intellectual and language impairments do impact academic growth
They may look like autism however, they are social ( may receive a secondary dx of autism) – may be tactile defensive
Along with speech, language and hearing deficits these children may also have:
Poor eye contact
Hyperactivity
Cognitive deficits more common in boys than girls
Social deficits
Receptive language and semantic skills may be unaffected
Poor turntaking

16. Motor and Sensory Deficit
Static Encephalopathy - AKA – __________
May affect a child’s _________ skills due to muscle tone
Hearing Impairment
Depends on the ___________ and the ____ at which the child becomes hearing impaired (or when the hearing loss is detected), as to the language disorder associated with the hearing impairment
Motor and sensory deficits can contribute to language deficits b/c they affect the degree to which children can explore their environment, and hence, learn language through this exploration.

17. Let’s Talk
“Think About It” page 73 in text book

18. Hearing Impairment ASHA definition – page 74 Deaf Hard of Hearing
Language disorders of a hearing impaired individual can be variable – based on when the impairment occurred
Variable based on when you became hearing impaired of deaf

19. Other factors are: Whether or not the hearing loss is ______________
Whether it is ________________
What _________ of hearing loss the child demonstrates
How much __________ the child has received
Family __________

20. Types and Levels of Hearing Loss
Prelingual and Postlingual Hearing Loss
Prelingual hearing loss – the acquisition of a hearing loss _____ to the development of speech and language
Postlingual hearing loss – the acquisition of a hearing loss _____ the development of speech and language.
Table 2-8 page 76 – look at and review this table
Mild – may choose to do some environmental manipulation
Moderate – facilitat the understanding of conversational speech trouble with auditory perception, auditory discrimination, and auditory memory (definitions page 77)
Severe - Speech and language skills are likely to be delayed
Profound – significant difficulty discriminating her sounds even with amplification

21. Otitis Media and Otitis media with effusion
OM – ________________
OME – Inflammation of the middle ear accompanied by the ____________________________
Problems that may occur
Both cause _______________ depending on presence of fluid in the middle-ear system
Page 78 The effects of hearing loss on specific language areas

22. Fetal Alcohol Syndrome
.6 – 3 in every 1000 children are diagnosed with FAS
One of the leading causes of ________disabilities.
_____ preventable

23. Diagnosing FAS Diagnosis of FAS must include _________________
The child must exhibit three primary symptoms
_________________

24. Alcohol Related Neurodevelopmental Disorder – Fetal Alcohol Effect
Diagnosis when all three primary symptoms are _____ ______
Diagnosis found __ times more than fetal alcohol syndrome (FAS)
Anomolies can be found pre or post natally

25. Physical Characteristics
Insufficient development of _______________
Short __________
Small ___________
Possible ______ fingers and/or toes
Abnormal __________
Hip ___________
Kidney __________
_______
Minor ______________
Abnormal __________
___________
Generalized __________

26. Language Deficits found in FAS
_________
__________
Expressive language skills are ______ than receptive language skills
Word _______
Word ___________
Issues with ___________
Also impacting Learning and Language are:
_________ problems
_________ deficits
___________
IQ is at times approximately 70 – borderline range
Issues with social language rules

27. In the classroom a child with FAS may exhibit:
Conceptual deficits such as ____ and _____
Comprehension of both ________ and _____ material
Basic ____________
______ and ______ memory deficits
Disruptive in the classroom
Issues with academic completion

28. Let’s Talk
“Think About It” page 72 in text book

29. Intellectual Disability
Descriptive criteria for labeling a child intellectually disabled is:
Difficulty ______________
Delays in __________________
_____________
Lack of ______________
Delay in development of __________ such as self-help or self-care skills
Page 89 – DSM – IV
After reviewing the slide and the dsm review page 90 IQ

30. Intellectual Disability is based on IQ Classification
Borderline – 80
Mild – 69
Moderate – 49
Severe 20 – 34
Profound Below 20

31. Acquired Language Disorders
A result of illness
________________
Difficult to describe a typical language pattern with children with acquired language disorders b/c the brain is not consistent.