Structural and syndromic speech disorders Flashcards

1
Q

What is the speech pathologist’s role in the multidisciplinary care team for children with structural and syndromic speech disorders? (6)

A
  1. Observe and describe structural presentation - OPE and support structural diagnosis made by med professional
  2. Assess speech, considering structural presentation
  3. Diagnose speech disorder in the context of structural presentation
  4. Provide therapy if appropriate or make relevant referrals
  5. Educate patients/parents about the relationship between structure and function for speech
  6. Educate and liaise with colleagues about structure and function in relation to speech
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2
Q

What are some craniofacial syndomes that affect speech?

A
  • Palatal anomalies
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3
Q

Describe the palatal anomalies that can affect speech (6)

A
  • Cleft
  • Short, bulky palate related to history of cleft repair
  • Congenitally short palate
  • Hypoplastic palate (underdeveloped)
  • Fistula
  • High vaulted hard palate
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4
Q

What is impact of palatal anomalies? (2)

A
  • Nasal regurgitation
  • Velopharyngeal insufficiency leading to resonance, nasal air emissions, articulation
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5
Q

What might be affected by a high arched palate? (4)

A

Seen in some syndromes, soft palate usually intact
- Alveolar and palatal sounds affected
- Air/sound escaping through arch
- Sounds might sound lateralised
- May be movement in tongue position to compensate

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6
Q

What are the cleft types? (3 categories)

A
  • Unilateral or bilateral
  • Lip, palate or both
  • Complete or incomplete
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7
Q

What is a submucous cleft palate? (4)

A
  • Sub-type of cleft plate
  • Caused by a ‘break’ in the muscles of soft palate, deficiency in midline
  • Overt or occult
  • Anatomical features = bifid uvula, zona pellucida (blue line along midline), palatal notch at border of soft/hard palate
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8
Q

How to spot a submucous cleft palate? (3)

A
  • Listen for cleft speech features
  • Other clues = feeding difficulties (nasal regurg), middle ear dysfunction, hearing loss (muscles affected also control eustachian tube leading to fluid buildup)
  • Look for anatomical features = bifid uvula, palatal notch, zona pellucida (blue line along midline), ‘v’ shaped palate on elevation
    *can be diagnosed with one or none of the anatomical features, your role is to observe not diagnose!
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9
Q

How to test for features of SMCP?

A
  • Feel for gap at border of hard/soft palate
  • Look for tenting
  • Look for zona pellucida
  • Look for bifid uvula by asking them to breathe out warm air ‘hhh’, /ahaha/, and siren on ‘aaaa’
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10
Q

What does velopharyngeal insufficiency (VPI) sound like? (3)

A
  • Hypernasality: excessive sound through nose
  • Nasal air emissions or turbulence: excessive air through nose
  • Passive or active articulation errors
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11
Q

How to identify hypernasality

A
  • Use a sentence with one target sound and no nasals to hear oral consonants being weakened/realised as nasals
    Eg. ‘Bob is a baby boy’
  • Use a low pressure sentence to hear vowel nasalisation
    Eg. ‘Laura will wear a yellow welly’
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12
Q

What are the cleft types characteristics (CTC) of articulation? Active and passive

A

Compensatory/active errors (mislearned patterns)
- Dentalisation
- Lateralisation
- Palatalisation
- Glottal/pharyngeal articulation
- Active nasal fricatives
- Backing to velum/uvula
Obligatory/passive errors (VPI or fistula)
- Weak or nasalised consonants
- Nasal realisation of oral sounds

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13
Q

What are some early cleft speech characteristics? (4)

A
  • Restricted phoneme inventory (more glottals/nasals, fewer high pressure consonants, more posterior sounds)
  • Less complex babble, fewer canonical syllables
  • Hypernasality
  • Nasal emissions
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14
Q

Nasal anomalies and impact on speech

A
  • Size and patency of nasal airway
  • Nasal obstruction: deviated septum, slumped nares, enlarge turbinates, mucosal swelling
  • Can cause hyponasality, reduced nasal resonance perceived in ‘m,n,ng’
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15
Q

Nasopharynx abnormalities and impact on speech

A
  • Congenital, developmental or acquired
  • Disproportion, platybasia (flat cranial base), excision of nasopharyngeal tumour
  • Can cause velopharyngeal insufficiency (VPI)
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16
Q

Irregular tonsils and adenoids and impact on speech

A
  • Anomalies in shape and size: sever hypertrophy, removed during childhood (leading to nasopharyngeal disproportion), inconsistent tissue bed
  • Can cause velopharyngeal insufficiency (VPI)
17
Q

Maxilla and mandible abnormalities and impact on speech

A
  • Relationship between upper and lower jaw
  • Maxilla (upper): hypoplasia, prognathism (forward)
  • Mandible (lower): micrognathia/hypoplasia (too little), retrognathia (posterior pos), prognathiasm (forward), mandible dystosis (fails to dev)
  • Malocclusion class II (overbite = lisp)
  • Malocclusion class III (underbite = alveolar and labiodentals affected, causing lateralisation, palatalisation and interdentalisation)
  • Can impact articulation and resonance
18
Q

Dental anomalies and impact on speech

A
  • Anterior open bite
  • Missing/extra dentition
  • Crowded dental arch
  • Can impact articulation
19
Q

Lingual anomalies and impact on speech

A
  • From slightly thickened/englarged tongue to macroglossia
  • Eg. Down syndrome and Beckwith-Weidemann syndrome
  • Can impact open mouth posture, tongue protrusion, anterior open bite, articulation
20
Q

Impact of macroglossia and microglossia on articulation

A

Macroglossia
- /th, t, d, , n, l, k, g/
- Additionally consider tone, rate, ROM
Microglossia
- Reduced contact with articulators
- May distort /th, t, d, n, l/

21
Q

Lingual anomalies - tongue tie/ankoglossia and impact on speech

A
  • Can be a symptom of rare syndomes, eg. Beckwith-Weidemann syndrome
  • Limited evidence to say that tongue tie impacts speech!!
  • May impact breastfeeding
  • Diagnosis and treatment should be based on functional impact
22
Q

Labial abnormalities and impact on speech

A
  • Lip pits (Van der Woude)
  • Cleft/symmetry: repair scar/tightness, tissue deficiency
  • Abnormal nerve innervation: eg. hemifacial microsmia, one side of face doesn’t develop typically
23
Q

What craniofacial features are affected by Velocardiofacial syndrome (VCFS)? (3)

A
  • Velum, cardiac, facial
  • Velum should be cleft, short, or not toned enough to close
  • Language/literacy/cognitive/social comm impairments common
24
Q

What craniofacial features are affected by Pierre Robin syndrome? (2)

A
  • Micronathai, retrognathia, glossoptosis (enlarged) and cleft palate
  • Isolated or syndromic
25
Q

What craniofacial features are affected by Stickler’s syndrome? (2)

A
  • Glossoptosis (enlarged tongue) and cleft palate
  • Micrognathia, retrognathia, and sensorineural hearing loss
26
Q

What craniofacial features are affected by Treacher Collins syndrome? (2)

A
  • Midface hypoplasia and cleft palate
  • Micrognathia and conductive hearing loss
27
Q

What craniofacial features are affected by Kabuki syndrome?

A
  • Multiple malformation syndrome
  • Complex/variable phenotype
  • Receptive/expressive language impairement
  • Delayed rather than disordered articulation and phonology
  • Abnormal oromotor function
28
Q

Format of a structural speech disorder assessment (3 steps)

A
  1. Case history: regarding structural impact of anatomical features
  2. OPE
  3. Speech assessment and diagnosis
29
Q

Case history for structural speech assessment

A

Consider key confounding factors
- Type/extent of structural difference, eg. cleft palate
- Timing of surgery
- Type of surgery
- Hearing
- ? genetic diagnosis

30
Q

OPE for structural speech assessment (5)

A
  • Do structural anomalies from OPE impact the ability to produce clear speech?
  • Observe at rest oro-dento-facial structures
  • Breathing
  • Resting mouth position
  • ROM
  • Function: rate, strength, symmetry
    Remember physical presentation DOES NOT equal speech production
31
Q

Speech assessment and diagnosis for structural disorders (5)

A
  • Standardised, informal or combination of both
    With structure in mind, consider:
  • Place/manner of articulation
  • Resonance and oral/nasal airflow
  • Intelligibility/acceptability
  • Oblibatory/active or compensatory/passive errors
  • Stimulability testing!
32
Q

Speech pathologist’s role in treatment of structural speech disorders (3)

A
  • Feeding pre and post-repair
  • Early intervention and direct intervention of speech disorder
  • Language, pragmatics, literacy, broader communication
33
Q

What are early interventions for structural speech disorders? (3)

A
  • Parent education/training
  • Increase frequency and diversity of vocalisations, particularly oral sounds
  • Early language intervention approaches, e.g. Enhanced Milieu, Focussed stimulation
34
Q

What are direct interventions for structural speech disorders? (2)

A
  • Articulatory or phonological approach
  • No strong evidence to support oro-motor tasks, such as blowing, for improved speech outcomes
35
Q

Tips for direct speech treatment

A
  1. Fricatives may be easier to stimulate than stops
  2. Voiceless before voiced
  3. Active nasal fricatives - may benefit from initial nares occlusion, use sparingly
  4. Anterior to posterior consonants
  5. Medial/final to initial word position