DHH Causes & Syndromes

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juliafritz
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19527
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DHH Causes & Syndromes
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2010-05-30 23:15:20
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DHH deaf syndromes causes NBPTS exam NBPTS
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NBPTS DHH Causes & Syndromes
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  1. Aicardi Syndrome
    • rare genetic
    • X chromosome only - therefore females only
    • absence of center of brain (corpus callosum)
    • its job is to communicate between left/right sides of brain = MR
    • Identified around 3-5 months of age

    • infantile spasms
    • MR
    • mircrocephaly
    • pro-encephalic cysts
    • lesions of retina (very specific to this disorder)
  2. Alport Syndrome aka Bright's Disease
    • X-chromosome linked
    • sensorineural loss
    • kidney disease
    • eyes
    • blood platelets cause bleeding complications
    • males more than females (even through x chromosome)
  3. What 3 areas are tested for Alport Syndrome/Bright's Disease
    • test for blood and protein in urine
    • hearing tests for sensorineural loss
    • extended family history
  4. Asphyxia
    • blood supply doesn't get enough oxygen
    • sensorineural loss from damage to the cochlea
    • see other card on asphyxia

    CP, MR, and just about everything else can be effected by asphyxia
  5. C.H.A.R.G.E stands for?
    • C- coloboma (eye problems)
    • H - heart
    • A - atresia choanae (blockage of nasal passages from back of nose to throat)
    • R - retarded (MR)
    • G - genital anomalies
    • E - ears (deformed ears and deafness)
  6. What kind of hearing loss for CHARGE?
    • conductive
    • sensorineural
    • mixed (both)
    • ranges from mild to profound
  7. CHARGE Interventions
    • deafness
    • eyes
    • DD
    • SLP - oral motor
    • many surgeries for heart, breathing, tethered chord
  8. Cockayne Syndrome
    • deafness
    • retina pigmentosa
    • DD

    • microcephaly = neurological abnormalities
    • photosenitive skin
    • photosensitive eyes
    • growth retardation
    • disproportionately long limbs
    • skeletal malformations with knee contractures
  9. Cornelia de Lange Syndrome (CdLs)
    • DD
    • behavior similar to austism
    • deafness
    • vision problems (cornelia)
  10. Detailed Characteristics of CdLs
    • low birth weight - often under 5 lbs.
    • delayed growth and small stature
    • small hands and feet
    • limb differences (sometimes missing or only portions of limbs)
    • microcephaly
    • thin eyebrows meeting at midline
    • long eyelashes
    • short upturned nose, thin downturned lips
    • excessive body hair
    • partial joining of the 2nd and 3rd toes
    • incurved 5th fingers
    • feeding problems
    • gastro-esophageal (GE Tract problems) can be mild to acute
    • cleft palate
    • seizures
    • heart defects

    • What are CdLs behavioral concerns?
    • <>
    • behavior looks like autism...
    • agressiveness
    • violence
    • self-mutilation
    • self-stim
    • lack of interpersonal connections
    • repetitive motions
    • rigidity of behavior

    • Cytomegalovirus
    • CMV
    • sensorineural loss due to chronic ear infections of inner ear
    • jaundice
    • DD
    • retina diseases
    • anemia
    • enlarge liver, spleen, and/or encephalitus

    • What is Down's?
    • *94% of Downs have it as a result of trisomy 13 (3x/#21 chromosomes)
    • MR & DD
    • significant hearing and vision
    • PT - reduced muscle strength and tone
    • facial characteristics & oral motor issues
    • sleep apnea
    • heart
    • gastrointestinal
    • blood/skin
    • endocrine (hypothyrodism and GI tract)

    • What interventions are needed for Downs?
    • SLP: Oral-motor/articulation
    • SLP: Voice husky, breathy, low pitch
    • up to 75% with hearing difficulties which are mostly conductive, some sensorineural
    • typical MR education training depending on the level on IQ
    • May need OT/PT


    • Encephalitis
    • infection from virus causes inflamation of brain
    • sensorineural hearing loss in one or both ears
    • vision impairments
    • *Encephalitis with meningitis is known as meningoencephalitis

    • FAS
    • Fetal Alcohol Syndrome

    • 3 major characteristics of FAS?
    • pre/postnatal growth retardation
    • CNS dysfunction = ranges from MR to SLD
    • craniofacial abnormalities

    • What are some of the physical characteristics of FAS?
    • microcephaly
    • wide set eyes
    • small and thin body during childhood
    • failure to thrive/low birth weight


    • What are some behavioral characteristics of FAS?
    • significant behavioral and emotional disturbances
    • irritable baby! can't console crying
    • temper tantrums and moody
    • poor impulse control
    • OCD and ODD behavior
    • no sense of danger, strong willed
  11. What are some of the craniofacial characteristics of FAS?
    • microcephaly
    • widely spaced eyes
    • small, upturned nose
    • thin upper lip
    • cleft lip, palate or submuccous cleft
    • midface hypoplasia (under developed)
    • flat phitrum
    • malcclusion
    • ear malfunction of the pinna and middle ear
    • protuberant ears, poorly rotated
    • poorly formed concha
    • small teeth with faulty enamel
    • What are interventions for FAS?
    • early ID and intervention
    • positive caregiver-child interaction
    • monitor hearing
    • SLP - traditional articulation therapy
    • SLP - voice therapy
    • check for visual

    • Goldenhar Syndrome
    • cognital birth defect
    • deformitities of the face (usually 1 side only)
    • microtia - partially formed or totally absent ear
    • missing eye
    • chin can be closer to affected ear
    • one corner of mouth higher than other
    • *aka OAV (oculoauicular dysplasia)

    • Goldenhar Syndrome Interventions
    • mostly conductive hearing loss, occassionally sensorineural
    • SLP - oral motor
    • occassionally MMR
    • surgeries: fusion of bones in neck, spine, cleft palate

    • Herpes
    • vision
    • hearing - high frequency sensorineural loss

    • Hydrocephaly
    • water on the brain -
    • if not treated...MR
    • small face
    • seizures
    • cleft lip and palate
    • heart
    • kidney

    • Leber's Congenital Amaurosis
    • ID first 6 months of life
    • blindness or severe vision impairment
    • nystagmus - rolling of eyes
    • stereotyped behaviors - eye rubbing, eye pressing, eye poking
    • deafness
    • autistic traits
    • cardiopathy
    • cerebellar hypoplasia

    • Meningitis
    • inflammation of membranes covering the brain and spinal cord
    • from bacterial and viral
    • *bacterial can be deadly
    • *most common cause of deafness
    • sensorineural loss - usually severe to profound

    • Moebius Syndrome
    • 6th and 7th cranial nerves not developed fully
    • lifetime facial paralysis
    • may not be able to blink, smile, frown, no lateral eye movement, facial expression
    • inability to suck, excessive drooling
    • cross eyes
    • deformed tongue or jaw
    • webbed or missing fingers, club foot
    • low muscle tone - especially upper body

    • Interventions for Meobius Syndrome
    • hat or sunglasses (because can't squint)
    • SLP - feeding, sucking, oral motor issues, drooling (possibles tubes needed)
    • SLP - articulation of closed mouth sounds & sounds using lip movement
    • PT - motor delays in upper body, low tone
    • conductive loss - tubes in ears

    • Neurofibromatosis
    • catagory of CNS genetic disorders
    • cause tumors to grow on nerves
    • NF1 = before age 10, changes in skin appearance, bone abnormatilities
    • NF2 = bilateral tumors on 8th nerve, hearing loss, tinnitus, pool balance,
    • headache, facial pain, facial numbness from pressure of tumor on nerves

    • What are the other 3 names for Rubella?
    • German Measles
    • 3 day measles
    • Gregg's Syndrome

    • Rubella
    • hearing loss
    • vision
    • MR
    • BD
    • heart disease

    • Other problems
    • low birth weight
    • poor bone developmetn
    • live and spleen enlarged
    • microcephaly
    • jaundice
    • anemia
  12. Stickler Syndrome/Marshall Syndrome
    • hearing loss
    • Myopia
    • joints & bones
    • oral/facial structures


    • ***both disorders are connective tissue disorders
    • ***so similar that some say they are the same thing
  13. What are Stickler interventions?
    • SLP - oral motor
    • PT - gross motor for joints and bone issues
    • myopia - very near sighted
  14. Syphilis
    • deafness
    • blindness
    • MR
    • CNS
    • bones/skeleton
    • teeth

    • early signs:
    • loss of hair
    • nails falling off
    • lesions
    • fever/pneumonia
  15. How do you get Toxoplasmosis?
    • 2nd most common congenital infection, passed to the placenta
    • ingestion of raw, poorly cooked meat
    • contact with animal feces
  16. What is toxoplasmosis?
    • sensorineural hearing loss - mostly high frequency loss
    • vision loss
    • MR
    • seizures
    • microcephaly, hydrocephaly
  17. Treacher Collins
    • *remember baby Juliann on uTube
    • microtia - small, deformed ears + bone conduction (some CI)
    • middle ear problems (3 small bones)
    • wide mouth - cleft palate surgery
    • sunken face, prominent nose, small jaw/chin
    • eyes slant and hang downward
    • respiratory problems - some need tracheotomy
    • notch in lower eyelids called a coloboma
  18. Usher Syndrome
    • congenital hearing losses
    • progressive visual impairment due to retinitis pigmentosa
    • Balance issues
    • family history - passed down
    • 50% of Deaf-Blind have a form of Ushers
  19. How many types of Ushers are there? Which are most common?
    3 types

    90-95% have either US1 or US2
  20. What is retinitis pigmentosa
    photosensitivity to light starts with night blindness and leads to tunnel vision
  21. Describe US1
    • congenital deafness - profound loss/sensorineural
    • NO hearing aid benefits/some CI benefits
    • culturally Deaf
    • severe balance issues - absent inner ear
    • slow motor development due to balance issues (rarely learn to sit up or walk before age 18 months)
    • night blindness by 10 yrs
    • tunnel vision by 16 yrs
  22. Describe US2
    • born HOH with sloping sensorineural loss,
    • hearing aides help
    • normal balance
    • *vision problems deteriorates slowly:
    • night blindness in early teens
    • tunnel vision in late teens to early 20s
  23. Describe US3
    • born with good or mild hearing but worsen over a decade or 2
    • teenager/early adulthood "looks like" Type 2
    • older people "looks like" Type 1
    • progressive balanced disturbance
    • night blindness begins during puberty
    • tunnel vision in the 20s
  24. Waardenburg Syndrome - Minor Criteria
    • patches of light or white skin
    • eyebrow extending toward middle of face
    • nose abnormalities
    • premature graying of hair (by age 30)
  25. Waardenburg Syndrome - Major Criteria
    • think Nikki
    • born deaf or HH - sensorineural
    • briliant sapphire blue eyes or 2 different colored eyes
    • white lock of hair on forehead
    • inner corner of eye displaced to side (dystopia canthorum)
    • immediate family member with Waardenburg Syndrome
  26. Usher's interventions
    • OM
    • PT/OT vestibular balance
    • hearing aids, CI, FMs, etc...
    • braille instruction
    • low vision services
    • auditory training
    • independent living training
  27. Wildervanck Syndrome
    • mostly females
    • conductive hearing loss or sensorineural hearing loss by dysplasia
    • deformity of spine
    • short neck muscles
    • eyeball retraction
    • lateral gaze
  28. What is an ABR?
    auditory brainstem response
  29. Auditory Neuropathy
    • problem with nerves so sound isn't normally processed
    • ABR is missing or abnormal
    • sound enters ear normally, but signals from inner ear to brain are impaired

    • can affect people with normal hearing to profound loss
    • can affect young or old

    • Sounds can be
    • out of sync
    • fade in and out
    • hard to recognize spoken words
  30. Otosclerosis or Otospongiosis
    • passed down through families
    • abnormal sponge-like bone grows in middle ear
    • stops ear from vibrating in response to sound waves

    • most common cuase of middle ear hearing loss in young adults
    • about 10% in US, mostly woman age 15 - 30
  31. Otitis Media
    • middle ear infections
    • build up of fluid or pus
    • conductive hering loss
  32. Scarlet Fever
    • not common anymore in the US
    • infectious disease caused by strep bacteria
    • deafness can occur from sinus infections, abscesses of the ear, then mastoiditis
  33. VATER(S) or VACTERLS Association
    • deafness for some
    • normal intelligence
    • birth defects that affect multiple organ systemsV= vertebral abnormalities
    • A=anal atresia
    • C= cardiac defects
    • T= tracheoesophageal fistula
    • E= esphageal atresia
    • R= renal (kidneys)
    • L= limb abnormalities
    • S= single umbilical artery instead of 2 (2 is normal)
  34. Mumps
    • one-sided severe deafness - unilateral
    • destroys inner ear - sensorineural
    • does NOT affect the balance
  35. Typhoid Fever
    • sensorineural hearing loss
    • spread through contaminated food or water
  36. What is CHL?
    • Conductive Hearing Loss
    • middle ear or external ear
    • blocking sound to the cochlea
  37. What is SNHL?
    • Sensorineural hearing loss
    • aka "nerve damage" (misleading)
    • inner ear problem
    • tiny hair cells called cilia are damage
  38. atresia
    • Atresia is a condition in which a body orifice or passage in the body is abnormally closed or absent.
    • Examples of atresia include:

    • Imperforate anus - malformation of the opening between the rectum and anus.
    • Microtia- Absence of the ear canal or failure of the canal to be tubular or fully formed (can be related to Microtia- a congenital deformity of the pinna (outer ear).)
    • Biliary atresia - Condition in newborns in which the common bile duct between the liver and the small intestine is blocked or absent.
    • Choanal atresia - blockage of the back of the nasal passage, usually by abnormal bony or soft tissue.
    • Esophageal atresia - affects the alimentary tract causing the esophagus to end before connecting normally to the stomach.
    • Intestinal atresia - malformation of the intestine, usually resulting from a vascular accident in utero
    • Ovarian follicle atresia, atresia refers to the degeneration and subsequent resorption of one or more immature ovarian follicles.
    • Pulmonary atresia - malformation of the pulmonary valve in which the valve orifice fails to develop.
    • Tricuspid atresia - a form of congenital heart disease whereby there is a complete absence of the tricuspid valve. Therefore, there is an absence of right atrioventricular connection.
    • Vaginal atresia - vagina or subsequence adhesion of the walls of the vagina occluding it.
    • Potter sequence - decreased size of the kidney leading absolute no functionality of the kidney, usually related to a single kidney.
  39. Choanal atresia
    blockage of the back of the nasal passage, usually by abnormal bony or soft tissue.
  40. Coffin-Lowry Syndrome
    • deafness
    • MR
    • short from spinal defects
    • puffy fingers
    • more males
  41. What are the differences between mild hearing loss and ADD?
    • HH - inappropriate responses vs. blurting
    • HH - doesn't understand directions vs. follow-thru w/ directions
    • HH - frequency needs repetition vs. can focus w/ strict control
    • HH - acadmic failure vs. academic/behavioral/social failure
    • HH - no/poor self-concept vs. low self-esteem
    • HH - doesn't seem to listen vs. can't sit still

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