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Genetics and Organic Syndromes
Exam 2
42
Speech-Language Pathology
Undergraduate 3
10/21/2013

Additional Speech-Language Pathology Flashcards

 


 

Cards

Term
What is the first question to ask a client when seeing them for the first time?
Definition
Why are you here today?
Term
What can confound getting history from a client or his/her family?
Definition
Shame, denial, guilt
Term
Why is a pedigree important in medical history?
Definition
Pedigree relays heredity issues. Concerns may arise if there inheritance from one generation to another.
Term
When is the primary palate (including lip) formed?
Definition
During the 6th week of gestation
Term
When is the secondary palate formed?
Definition
Formed between the 10th and 12th weeks
Term
What are the 4 types of cleft palate/lip?
Definition
Unilateral (one side)
Bilateral (both sides)
Complete (from lip to incisive foramen)
Incomplete (slight cleft from lips to IF)
Term
Can cleft lip and cleft palate occur separately?
Definition
Yes. 20% lip, 30% palate, and 50% co-occur.
Term
Etiology of CL or CP?
Definition
Mother's pregnancy behavior, idiopathic, multi-factoral, syndromic (FAS, Stickler, etc.)
Term
What are some complications with CL&P?
Definition
Feeding, otitis media, dental, speech and language (articulation)
Term
What are some feeding issues with CL&P?
Definition
Certain bottles and nipples used so baby doesn't aspirate. NUK nipple, Mead Johnson Nurser, Habermann Feeder (controls air), and syringes available
Term
Who is involved on a CL&P team?
Definition
Surgeon, pediatrician, orthodontist, SLP, AuD, social worker, social worker, genetic counselor
Term
When are CL&Ps repaired?
Definition
CPs repaired between 0;9 and 1;6, but before 2;0. CLs repaired within several months (0;2 and 0;4) of birth or between 10-12lbs.
Term
Who decides on the CL&P repairs?
Definition
The surgeon
Term
Why are there many cases of hypo/hypernasality?
Definition
This happens due to a poor velopharyngeal structure and function. Mostly seen in CP & CLP cases.
Term
What are some articulatory compensations seen with CP? Why?
Definition
Glottal stops do to VP insufficiency , soft breathy voice to reduce perception of hypernasality
Term
What are some syndromes related to CP?
Definition
Deletion 22q11, Stickler Syndrome, Pierre Robin Sequence
Term
Do infants project a physical image of adults?
Definition
No
Term
Migration
Definition
Movement of cells in a particular direction or specific location
Term
Proliferation
Definition
Growth or production of cells by multiplication of parts
Term
Differential growth
Definition
different rates of growth in associated tissues or structures; used especially in embryology when the differences in growth rates result in changing the original proportions or relations.
Term
Growth
Definition
increase in dimension and mass
Term
Development
Definition
progress to more adult characteristics
Term
What are some factors that affect craniofacial growth and development?
Definition
Nutrition, nervous system, emotion, genetic, disease, and socioeconomic class
Term
What IQ score shows mild ID?
Definition
50-75
Term
What IQ score shows moderate ID?
Definition
35-49
Term
What IQ score shows severe ID?
Definition
<34
Term
Profound ID?
Definition
Needs full assistance with self-help skills
Term
Etiologies of ID?
Definition
Prenatal trauma, infections during pregnancy, trauma at birth, postnatal illnesses/injury/environment, genetic causes (Cri-du-chat, Prader Willi), and idiopathic (most of the time)
Term
3 types of Down Syndrome?
Definition
Additional 21st chromosome (Trisomy 21); Translocation (extra 21, long arm attaches or translocates onto another chromosome); mosaicism (extra chromosome in some, but not all cells)
Term
Does Down Syndrome only occur with older mothers?
Definition
No, but they do have an increased risk
Term
3 criteria needed for a person to be diagnosed with an intellectual disability?
Definition
1. IQ score 70-75 or below
2. Concurrent limitations in 2 or more adaptive skills
3. Occurs prior to 18 years of age
Term
What are some adaptive skills that are limited in ID patients?
Definition
communication, functional academics, home living, social skills, work, leisure, health and safety
Term
What are some common physical signs of Down Syndrome?
Definition
slanting of eyes, depressed nose bridge, short stature, hypotonia, small outer ears
Term
What are some common medical conditions associated with Down Syndrome?
Definition
GI abnormalities, thyroid problems, congenital heart dz, metabolic issues, sleep apnea, hearing problems
Term
Communication weaknesses in DS clients?
Definition
Expressive language, morphosyntactic skills, more articulatory issues, disfluency
Term
Communication strengths in DS clients?
Definition
Visual learning, receptive language, pragmatics
Term
What gene has been identified to cause Fragile X Syndrome (FXS)?
Definition
FMR1
Term
Is FXS normally diagnosed? Why or why not?
Definition
FXS is usually not diagnosed because it shares some characteristics of ASD and some people do not present with normal FXS characteristics.
Term
Are there more males or females with FXS?
Definition
Males (1:2000) compared to females (1:4000)
Term
What are some physical traits commonly associated with FXS? Name a few
Definition
large occipitofrontal head, long thin face, large ears, prominent jaw, flat feet, and macrorchidism in boys
Term
What are some medical/behavioural symptoms of FXS clients? Name a few
Definition
Chronic OM, GI reflux, ADHD, obsessive compulsive behaviours, ID/LD, seizures (starting in puberty), anxiety, mood swings, emotional problems
Term
What are some speech and language issues present with FXS clients?
Definition
Semantics, morphosyntax, gesture use, reciprocity, symbolic play, and impaired intelligibility in conversation
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