Exam 2 Flashcards
EARLY HEARING DETECTION & INTERVENTION (EHDI)
What is screening?
- “Pass/refer” procedure
- “Pass” : no HL suspected
-HI not suspected presently
-You go home w a brochure
-Pediatrician is meant to check on speech & lang milestones throughout first several years - “Refer” : HL suspected
-Referred for follow-up testing
-Complete audiological evaluation including full ABRs, measures of ME function, acoustic reflexes, otoacoustic emissions
-Children 6-24 mon: visual reinforcement, audiometry
-Children 24 mon & older: conditioned play audiometry
-Diagnostic follow-up might include genetic testing, other medical procedures
-Guidelines from Joint Committee on Infant Hearing: 1-3-6 (when states meet that, they should try for 1-2-3)
Using
-Automated auditory brainstem response – AABR or ABAER
-Otoacoustic emissions – OAE
EARLY HEARING DETECTION & INTERVENTION (EHDI)
Screening (define sensitivity)
-The percent of subjects known to be have a condition that produce a test result consistent w that condition
-Patient scores positive
-Ex. Pregnancy test = 99.9% sensitive
EARLY HEARING DETECTION & INTERVENTION (EHDI)
Screening (define specificity)
-The percent of subjects known not to have a condition who produce a negative test result
-Ex. Covid test
-False positive, false negative, true positive, true negative
EARLY HEARING DETECTION & INTERVENTION (EHDI)
Screening & specificity
AABRs: 93% sensitivity , 97% specificity
TEOAEs: 77% sensitivity, 93% specificity
COMMON CAUSES (& risk factors) OF CHILDHOOD HEARING IMPAIRMENT
Fetal development
-Full term pregnancy is 40 weeks from date of last mensus to birth
-36 weeks (or > 5lbs) is considered full term
COMMON CAUSES (& risk factors) OF CHILDHOOD HEARING IMPAIRMENT
Development of head & neck
-Primary stages of head & neck development are in embryonic period
-Multiples diff structures develop & fuse/separate to form head & neck
-Most of the structural development is determined by an interaction of gene environment & chronic environment – sensitive to teratogens
COMMON CAUSES (& risk factors) OF CHILDHOOD HEARING IMPAIRMENT
Stages of pregnancy
-Menstrual phase: gestational days 1-14
-Embryonic phase: conception week 0-8, gestational week 2-10
-Fetal phase: conception week 9-37, gestational weeks 11-39
-Neonatal period: first 4 weeks after birth
-Most facial development takes place during embryonic period
COMMON CAUSES (& risk factors) OF CHILDHOOD HEARING IMPAIRMENT
Week 4 conception & week 6 gestation (IE)
-Otic placode
COMMON CAUSES (& risk factors) OF CHILDHOOD HEARING IMPAIRMENT
Week 5 conception & week 7 gestation (IE)
-Otic placod (otic vesicle) is no longer visible on surface of embryo
COMMON CAUSES (& risk factors) OF CHILDHOOD HEARING IMPAIRMENT
Week 7 conception & week 9 gestation (IE)
-IE labyrinth forms
COMMON CAUSES (& risk factors) OF CHILDHOOD HEARING IMPAIRMENT
Week 8 conception & week 10 gestation (IE)
-IE labyrinth forms
COMMON CAUSES (& risk factors) OF CHILDHOOD HEARING IMPAIRMENT
Middle ear
-Ossicles form: weeks 6-30
-Tympanic membrane, muscles, & cavity: weeks 6-28
-Eustachian tube: weeks 16-28
COMMON CAUSES (& risk factors) OF CHILDHOOD HEARING IMPAIRMENT
Outer ear
-External auditory meatus: weeks 8-18
-Cartilaginous development mostly complete: 5th month
COMMON CAUSES (& risk factors) OF CHILDHOOD HEARING IMPAIRMENT
Etiology of childhood HI (percentages)
In children w prelingual HL
Genetic (50%)
- Syndromic (30%)
- Non syndromic (70%)
Non-genetic (25%)
- Prenatal, perinatal, or postnatal causes
Idiopathic (25%)
COMMON CAUSES (& risk factors) OF CHILDHOOD HEARING IMPAIRMENT
Genetic inheritance
-Human ova & sperm each have 23 chromosomes
-Each chromosome contains multiple genes
-Baby gets one of each chromosome from each genetic parent
-Sometimes, baby gets too many of a chromosome
→Chromosomal disorder
COMMON CAUSES (& risk factors) OF CHILDHOOD HEARING IMPAIRMENT
Chromosomal disorders
- Trisomy
- Monosomy
- Triploidy
COMMON CAUSES (& risk factors) OF CHILDHOOD HEARING IMPAIRMENT
Trisomy (chromosomal disorders)
-Down syndrome
-Edwards syndrome
-Patau syndrome
-Klinefelter syndrome
COMMON CAUSES (& risk factors) OF CHILDHOOD HEARING IMPAIRMENT
Monosomy (chromosomal disorder)
-Turner
COMMON CAUSES (& risk factors) OF CHILDHOOD HEARING IMPAIRMENT
Triploidy (chromosomal disorder)
-Can be complete or mosaic
-Complete: multiple/single episode of that chromosome in every cell of the body
-Mosaic: only happens in some systems
→ Ex. Child w DS: only their digestive sys is affected
COMMON CAUSES (& risk factors) OF CHILDHOOD HEARING IMPAIRMENT
Genetic disorders (specific mutations)
-One gene affecting mostly one system
-For hearing, the best known single-gene mutation affecting hearing is to the GBJ2 gene, affecting the manufactor of connexin 26
-Connexin 26: a protein that affects cochlear function
→ Too much 26: hairs don’t stick to the floor of the cochlea
COMMON CAUSES (& risk factors) OF CHILDHOOD HEARING IMPAIRMENT
Genetic disorders (syndromes)
-Multiple body functions are affected by the mutation
-Hearing loss is one of multipl presentations
COMMON CAUSES (& risk factors) OF CHILDHOOD HEARING IMPAIRMENT
Examples of syndromic HI
- Waardenberg’s syndrome
- DiGeorge syndrome
- Usher’s syndrome
- Alport syndrome
COMMON CAUSES (& risk factors) OF CHILDHOOD HEARING IMPAIRMENT
Waardenberg’s syndrome
-Autosomal dominant, syndromic
-Deficits typically structural
Type 1:
-Risk of SNHL
-Pigmentation variance (white forelock, bright blue eyes), skin depigmentation
-Wide-set eyes
Type 2
-Higher risk of SNHL
-Typical eyes
-Multiple neurodevelopmental risks
Type 3: Klein-Waardenberg
-Like type 1, but with added joint contractures & fused digits (arms/hands)
Type 4: Shah-Waardenberg
-Like type 1, but w neurological dysfunction
-Leading to bowel differences
COMMON CAUSES (& risk factors) OF CHILDHOOD HEARING IMPAIRMENT
DiGeorge syndrome (velo-cardio-facial)
-Autosomal dominant
-Wide variety of deficits
-Cardiac irregularities, congenital heart disease
-Palatal abnormalities, including clefts & velopharyngeal incompetence
-Speech & feeding/nutrition deficits
-Cognitive disability, ADHD, schizophrenia, other psychiatric conditions
-Conductive & SNHL
-Renal anomalies
-Growth hormone deficiency
-Immune & auto-immune conditions
COMMON CAUSES (& risk factors) OF CHILDHOOD HEARING IMPAIRMENT
Usher’s syndrome
-Autosomal recessive, syndromic
-Affects hearing, balance, vision
-3 types, varying in severity
Type 1
-Affected individuals are usually born deaf & have associated balance atypicalities
-Lose eyesight progressively
Type 2
-HOH, not progressive, balance normal
-May retain vision until 2nd decade
Type 3
-Progressive HL & balance difficulties
COMMON CAUSES (& risk factors) OF CHILDHOOD HEARING IMPAIRMENT
Alport syndrome
-X linked, syndromic
-Characterized by structural deficits in collagen
-HL is progressive w hearing near-normal at birth
-Chronic kidney disease
-Variety of eye changes, all treatable
-Leiomyomatosis: benign tumors grow in muscle tissue, affect GI function, can affect cardiac function
COMMON CAUSES (& risk factors) OF CHILDHOOD HEARING IMPAIRMENT
Some non-genetic, prenatal causes
-Intrauterine infections
→ Rubella
→ Cytomegalovirus
→ Herpes simplex virus
→ Syphilis
-Rh incompatibility
-Prematurity
-Maternal diabetes
-Toxemia / preeclampsia
-Anoxia
COMMON CAUSES (& risk factors) OF CHILDHOOD HEARING IMPAIRMENT
Some non-genetic, perinatal causes
-Anoxia: may be caused by a prolapse of the umbilical cord & blockage of blood to the infant’s brain
-Use of forceps during birth may cause damage to the cochlea
COMMON CAUSES (& risk factors) OF CHILDHOOD HEARING IMPAIRMENT
Congenital HI: Risks
-Low birth weight
-Family history
-In utero infections
-Ototoxic medications
-Low APGAR scores
-Need for ventilator (> 5 days)
-Craniofacial anomalies
-Bacterial meningitis
-Hyperbilirubinemia - severe jaundice
-Physical manifestations consistent w syndrome
COMMON CAUSES (& risk factors) OF CHILDHOOD HEARING IMPAIRMENT
Non-genetic, postnatal causes
-Infections such as:
→ Meningitis, measles, encephalitis, chicken pox, influenza, mumps
-Use of ototoxic drugs
-25% of bilateral childhood HL is postnatal
→ Good motivation for continued surveillance of children after they leave the newborn nursery, particularly those at risk for HL
COMMON CAUSES (& risk factors) OF CHILDHOOD HEARING IMPAIRMENT
Conductive & mixed losses
-Otitis media: inflammation of ME, associated w fluid buildup
-Fluid may or may not be contaminated w infection
-Mild or moderate CHL, particularly in the low frequencies
-Can accentuate the amount of HL in the presence of an existing sensorineural loss
COMMON CAUSES (& risk factors) OF CHILDHOOD HEARING IMPAIRMENT
Why know etiology?
-Intervene to dec risk in future cases
-Plan for likely / predictable changes for the individual
-Importantly: an individual’s AR plan will be based on their presentation at the time
→ Hearing levels
→ Abilities in speech perception/discrimination
→ Speech/language production (possible future development)
→ Treatment plan for SLP or AuD should rarely be based on medical diagnosis
SPEECH DEVELOPMENT IN CHILDREN W HI
Developmental variability
-There’s a lot of variationin normal performance
-68% of children fall w/in the normal range
SPEECH DEVELOPMENT IN CHILDREN W HI
Pre-canonical & canonical forms
Pre-canonical forms
-Grunts
-Squeals
-Cooing
-Quasi-resonant nuclei
-Marginal babble
Canonical forms
-Vowel/consonant syllables
→ Open (CV) syllables
→ Closed (CVC syllables)
-Babbling
→ Reduplicated
→ Variegated
-Diphthongs
-Jargon
SPEECH DEVELOPMENT IN CHILDREN W HI
Earliest & latest acquired phonemes
Earliest
/m/
/w/ & /h/
/b/ & /p/
/d/
Latest
/r/ & /ɚ/
/s/ & /z/
/θ/
-Production of speech sounds is predicted by a combination of
→ Motor ability
→ Perceptual characteristics
SPEECH DEVELOPMENT IN CHILDREN W HI
Development of speech production in HOH children
-Research is contradictory, and must explain
→ Early vs late identification
→ Mild-moderate vs severe-profound
→ Type of learning environment
SPEECH DEVELOPMENT IN CHILDREN W HI
Viseme
Visual representation of speech sounds
SPEECH DEVELOPMENT IN CHILDREN W HI
Summary
-Children w HI as a group have highly variable speech outcomes w the following caveats
→Earlier identification: earlier achievement of intelligible speech production
→Specifics of the hearing loss predict speech sound production
→Need to know AIDED thresholds to use this to predict
-Can use visemes to make up for hearing
