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2011-06-27 17:35:15
Diagnostic Methods Syndromes

Syndrome/Genetics Final
Show Answers:

  1. Sensorineural Hearing Loss
  2. Conductive HL
    Cleft Palate
    Artic, Hyponasal, hoarse
    LD or ID
    Choanal Stenosis/atresia, upper airway obstruction
  3. No HL
    Limited or Nonverbal
    Severe Intellecual Disability
    Seizures, Ataxia, feeding and swallowing difficulties.
    • Angelman
    • aka Happy Puppet
  4. Possible Conductive HL
    Occasional cleft palate
    Possible artic, hypernasality
    Cognitive impairment
    Malformed ears, heart malformations
    Cat Eye
  5. Sensorineural
    Occasional Cleft palate
    cul-de-sac resonance
    hypernasality due to cleft,
    artic due to paresis, hoarse
    Cognitive impairment
    Unilateral facial paresis, feeding disorders.
    • CHARGE
    • Coloboma
    • Heart
    • Atresia
    • Retardation
    • Genital abnormalities
    • Ear abnormalities
  6. Conductive or Sensorineural HL
    Cleft Palate
    Delayed or Nonverbal, hypernasal, low pitch, hoarse, neurological artic disorders
    Cognitive Impairment
    Seizured, hypertonia, lack of facial expression, cardiac malformations.
    Cornelia de Lange
  7. Conductive HL- 2 degree to Chronic Otitis media
    Occasional cleft palate
    Absent development; if present, severly delayed; high pitch cry and voice; hypernasal if cleft
    Ear Tags, failure to thrive with feeding difficulty
  8. Conductive HL
    Cleft Lip/Palate uncommon
    Hyponasal; possible artic impair
    Possible Class III Maloclusion and midface defiency.
  9. High Frequency SN HL
    Possible Delay, occasional artic, abnormal resonance, hoarse
    Occasional cognitive impairment
    Headaches, seizures, occasional hemiplegia
  10. Otitis Media SN and Conductive HL
    Cleft Palate a/o lip, VPI
    Artic Impairment, dyspraxia, hypernasal due to cleft palate, VPI
    Cognitive Impairment
    LOW Birthweight, microcephaly, poor Motor Skills CAPD
    Fetal Alcohol
  11. Normal Hearing
    Dysfluency with classic Stuttering, Cluttering, nonsensical Short Bursts of perseverative or absent speech,
    Cognitive Impairment
    X-Linked mental retardation
    Expressive language may be absent
    Girls usually Milder
    Fragile X
  12. Mild-Moderate SN
    Occasional diabetes, ataxia w/ onset at approx 10 years of age.
    Friedreich Ataxia
  13. May appear to have HL, but likely inattentive to auditory stimulus.
    Normal speech development until 3-7 years then significant and rapid language loss; monotone; increased nasal resonance, final consonant deletions, and metathesis.
    Seizures, unexplained loss of language after 3-7.
    • Landau Kleffner
    • aka Acquired Epileptic Aphasia
  14. Normal to Type 1 HL
    HL in Type 2
    Occasional Mild dysarthria or dyspraxia; hypernasal, hoarse
    LD (common)
    ID (uncommon)
    Occasional facial asymmetry, skeletal anomalies
    Type 1 is 10 x more likely than Type 2
    • Neurofibromatosis
    • Type 1= Von Recklinghaus
    • Type 2= Bilateral Acousic NF
  15. Occasional SN and/or Conductive HL
    Occasional cleft palate (often Submucous cleft)
    Artic due to malocclusion, hypernasality due to cleft, occasional hoarseness
    Cognitive impairment
    Vertical Maxillary Excess, Webbed Neck, Vertebral Anomalies
  16. Normal Hearing
    Distortion due to dental spacing; delayed onset due to hypotonia nd dev. delay, low pitch for age.
    Cognitive Impairment
    Large Size at Birth, Hypotonia, tall Adult Height, Behavioral Disturbances.
  17. Occasional High Freq SN HL
    Conductive due to clefting
    Cleft Palate
    Artic distortion, compensatory artic, hypernasal due to cleft and VPI, hyponasal due to small nasal capsule and nasopharynx
    Maxillary deficiency, Myopia, VPI, Small Nasal Capsule, and Nasopharynx
    • Stickler
    • Dont stick things up small nose.
  18. Normal Hearing
    Artic due to malocclusion; delayed onset
    Cognitive Impairment
    Seizures, malocclusion, hemangioma
  19. Normal Hearing
    Verbal Tics including barking, profanity, echolalia, palilalia
    Learning Disability
    ADHD/ ADD/ OCD/ Motor Tics
  20. Conductive or varying Degree
    SNHL occas.
    Malar clefts/ cleft palate; cleft lip uncommon
    Artic; sever tongue backing; hyponasal; mixed resonance with VPI combined w/ nasal obstruction
    Micrognathia, malocclusion, ossicular malformation, airway obstruction
    Treacher Collins
  21. SNHL of varying degree
    Occasional cleft lip/palate
    Compensatory artic with cleft; may be afected by HL; hypernasal with cleft
    Chromia Iridium- Different colored eyes
  22. Hyperacusis
    Echolalia, overtalkativeness, possible hoarseness
    Cognitive Impairment
    Hypertension, elfin facial features, heart anomalies, large mouth, thick lips, language structure is sophisticated but not normal- Friendly "cocktail party" manner of conversation.