Genetic Syndromes Relevant to SLP
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Trisomy 21 (Down Syndrome)
- Genetics: Extra chromosome 21
- Speech-Language Profile:
- Language (especially expressive language and syntax) more delayed than nonverbal cognitive level predicts
- Expressive language more impaired than receptive
- Phonological errors; reduced intelligibility
- Hypotonia → poor oral motor control → articulation difficulties
- Macroglossia (relatively large tongue for oral cavity)
- Higher rates of middle ear effusion → fluctuating conductive hearing loss
- Relatively strong social/pragmatic skills (social referencing, gesture use)
- Risk for atlantoaxial instability: caution with head positioning
High-Yield: Down syndrome = expressive > receptive deficit (expressive is MORE impaired). Relatively strong social skills. High rate of conductive hearing loss.
The rest of this outline 6
- 22q11.2 Deletion Syndrome (Velocardiofacial / DiGeorge)
- Fragile X Syndrome
- Autism Spectrum Disorder (ASD)
- Williams Syndrome
- Other Syndromes: Quick Reference
- Sources to Know
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