Special Topics Flashcards
1
Q
- may be caused by spontaneous autosomal dominant mutations
- physical characteristics include
- syndactyly (digital fusion)
- cranial synostosis
- midfacial hypoplasia (underdevelopment)
- arched and grooved hard palate
- conductive hearing loss
- class III malocclusion
- irregularly placed teeth
- thickened alveolar process
- cleft of the hard palate in 25-30% of cases
- communication characteristics:
- hyponasality
- forward carriage of the tongue
- articulation disorders involving mostly alveolars and labio dental sounds
- may be a language delay depending on the level of intellectual functioning and hearing
A
Apert Syndrome
2
Q
- caused by an absence of the short arm of the fifth chromosome (known as 5p)
- Physical characteristics
- a cry resembiling that of a cat in infants
- low set ears
- a narrow oral cavity
- laryngeal hypoplasia
- artic and language disorders
A
Cri du Chat syndrome
3
Q
- caused by autosomal dominant inheritance with varied expression
- physical characteristics:
- craniosynostosis
- hypoplasia of the midface, maxilla, or both
- small maxilla
- sphenoethmoidal synchondroses
- ocular hypertelorism
- a parrotlike nose
- facial assymmetry
- tall forehead
- class III malocclusion
- highly arched palate
- shallow oropharynx
- long and thick soft palate
- brancycephaly (short head)
- Communication problems:
- conductive hearing loss
- articulation disorders associated with hearing loss, palate abnormalities
- hyponasality
- language disorders
A
Crouzon Syndrome
4
Q
- caused by an extra 21st chromosome
- Physical characteristics
- hypotonia
- flat facial profile
- small ears, nose, and chin
- brachycephaly
- midface dysplasia
- shortened oral and pharyngeal structures
- a narrow and high arched palate
- relatively large and fissued tongue that tends to protrude
- short neck
- hyperflexible joints
- cardiac malformations
- short fingers
- communication problems
- conductive hearing loss
- sensorineural loss
- may be language delays and disorders
- hypernasality and nasal emission
- breathier voice
- articulation errors
A
Down Syndrome
5
Q
- leading inherited cause of cognitive impairment in males
- expanded number of Cytosine-Guanine-Guanine (CGG) nucleic acid repeats on a specific gene on one of the distal ends of the X chromosome
- physical characteristics
- large, long, and poorly formed pinna
- big jaw
- high forehead
- most males are cognitively impaired, becoming more severe into adulthood
- communication problems:
- jargon
- perseveration
- echolaia
- inappropriate language or talking to oneself
- lack of gestures and other nonverbal communication
- voice problems
- articulation disorders
- Males specifically
- may withdraw socially
- avoid eye-contact
- limited attention spans
- be hyperactive
- autistic-like social deficiencies
- speech intelligibility may be compromised
A
Fragile X Syndrome
6
Q
- a rare, congenital metabolical disease caused by autosomal recessive deficiency of X-L iduronidase
- most children die in their early teens or sometimes even before they are 10 years old
- characterized by
- dwarfism
- hunchback
- cognitive impairment
- short and thick bones
- “gargoyle like face”
- sensorineural deafness
- noisy respiration
- protruberant abdomen
- angina pectoris
- frequent chest infections
- decreased joint mobility
- thickening of the coronary arteries
- hands may be short, wide, and thick
- thick, everted lips
- large tongue
- small malformed teeth
- compromised intelligibility
A
Hurler’s Syndrome
7
Q
- unknown cause
- form of aphasia whereby formerly healthy children between the ages of 3-7 years lose their ability to comprehend language and then to speak it
- change can occur suddenly or gradually
- some left with severe permanent language disorder, others regain abilities over months or years
- abnormal brain wave patterns have been detected through EEG
- about 70% develop epilepsy
*
A
Landau Kleffner Syndrome
8
Q
- caused by autosomal recessive inheritence in most cases
- may be part of Stickelr Syndrome
- physical characteristics
- mandibular hypoplasia
- glossoptosis
- cleft of the soft palate
- velopharyngeal incompetence
- deformed pinna
- low-set ears and temporal bone
- ossicular chain deformities
- communication problems
- unilateral or bilateral conductive hearing loss associated with otitis media and cleft palate
- delayed language and language disorders
- hypernasality
- nasal emission
- articulation disorders
- hypercompensatory articulation
*
A
Pierre-Robin Syndrome
9
Q
- suspected to be caused by autosomal dominant inheritance and deletion in the region of the long arm of chromosome 15 in some cases
- physical characteristics
- low muscle tone
- early feeding difficulties
- failure to thrive initialy
- obesity after the first year
- excessive eating
- Communication
- imprecise articulation
- oral motor difficulties
- hypernasality
- flat intonation patterns
- slow speaking rate
- harsh or hoarse vocal quality
- abnormal vocal pitch
- impaire receptive and expressive language
- developmental delays and cognitive impairment
- continuum of abilities
A
Prader-Willi Syndrome
10
Q
- suspected to be caused by genetic factors, information re: etiology is very scarce
- babies - low birth-weight, small for gestational age, considered to have dwarfism
- physical characteristics
- asymmetry of the arms or legs
- disproportionately large head
- craniofacial disproportion
- mandibular hypoplasia
- high, narrow palate
- microdontia (abnormal smallness of teeth)
- communication problems
- hypernasality
- feeding problems in infancy
- articulation disorders
- expressive and receptive language disorders
- abnormally high-pitched voice
A
Russell-Silver Syndrome
11
Q
- a neurological inherited disorder
- characterized by uncontrollable vocal sounds (tics) and repeated involuntary movements
- sometimes the tics include involuntary, inappropriate words and phrases such as swear words and other obscene language (coprolalia)
- affects males 3-4 times more often than females
- cause unknown
- symptoms usually appear before 18 years of age
A
Tourette’s Syndrome
12
Q
- caused by autosomal dominant inheritance in most cases and spontaneous mutation in some
- physical characteristics:
- underdeveloped facial bones
- mandibular hypoplasia
- malar (cheek) hypoplasia
- dental malocclusion and hypoplasia
- high hard palate
- cleft of hard palate 30% of cases
- communication problems
- congenital, bilateral conductive hearing loss, sometimes sensorineural
- language disorders
- hypernasality
- nasal emission
- articulation disorders
A
Treacher Collins Syndrome
13
Q
- occurs only in females
- caused by a missing or deformed X chromosome
- similar to Noonan syndrome which appears in males and females
- physical characteristics
- ovarian abnormaility
- congenital swelling of the feet, neck, and hands
- cardiac defects
- webbing of the neck
- low posterior hairline
- broad chest
- pigmented skin lesions
- narrow maxilla and palate
- micrognathia
- anomalies of the auricle
- high arched palate
- cleft palate
- evidence of right hemisphere dysfunction
- communication problems:
- sensorineural loss
- middle ear infections during infancy and early childhood
- conductive loss in some cases
- language and artic consistent with HL
- visual, spatial, and attention problems
A
Turner Syndrome
14
Q
- autosomal recessive inheritance in most cases and is X-linked in rare cases
- syndrome may affect 50% of people who are deaf and blind
- physical characteristics
- night blindness in early childhood
- limited peripheral vision
- eventual blindness
- cochlear abnormalities
- communication problems
- sensorineural loss
- language and artic consistent with HI
- hypernsality
- nasal emission
A
Usher Syndrome
15
Q
- syndrome most commonly associated with a cleft palate
- exact cause is not known, but it is a genetic disorder (deletion of part of chromosome 22)
- also called Shprintzen syndrome, DiGeorge syndrome, 22q11.2 deletion syndrome
- 180 other anomalies also associated
- challenging neonatal period
A
Velocardiofacial syndrome
