Common Syndromes

Question 1

Genetic disorder
Key Features:
Progressive hearing loss and retinitis pigmentosa (loss of night vision and peripheral vision).
Balance issues may occur due to vestibular dysfunction.
Speech-Language Implications:
SN Hearing loss → speech and language disorders
Hypernasality/nasal emissions

Answer 1

Usher Syndrome

Question 2

mutation in the FMR1 gene on the X chromosome.
Key Features:
Long, narrow face, large ears, macroencephaly
Intellectual and learning disabilities
Anxiety, hyperactivity (ADHD), and social difficulties are common.
Speech-Language Implications:
Delayed speech and language development

Answer 2

Fragile X Syndrome

Question 3

Trisomy 21 (extra copy of chromosome 21).
Key Features:
Intellectual disability, hypotonia, oral motor delays
characteristic facial features (e.g., slanted eyes, flat nasal bridge, short neck).
hearing loss, congenital heart defects, and respiratory problems
Speech-Language Implications:
Delayed speech and language development

Answer 3

Down Syndrome

Question 4

deletion of genes on chromosome 7
Key Features:
Distinctive facial features (e.g., wide mouth, full lips)
Overly friendly personality and high social interest.
Cardiovascular issues
Speech-Language Implications:
Expressive difficulties
Receptive issues
Speech sound disorders
Voice and fluency disorders
Social communication difficulties
Feeding/swallowing issues

Answer 4

Williams Syndrome

Question 5

absence of paternal genes on chromosome 15.
Key Features:
Hypotonia
insatiable appetite in later childhood
intellectual disability
Behavioral challenges: tantrums, compulsivity, and difficulty with transitions.
Speech-Language Implications:
poor articulation due to hypotonia.
Oral-motor difficulties
Hypernasality
Flat intonation
Slow speaking rate
harsh/hoarse vocal quality
Abnormal vocal pitch
Expressive and receptive delays

Answer 5

Prader-Willi Syndrome

Question 6

mutation of gene on chromosome 15
Key Features:
happy disposition and unique laugh
developmental delays and learning disabilities
short and broad skull
wide mouth, large tongue and lower jaw
Speech-Language Implications:
limited speech (few or no words), language challenges (receptive higher than expressive)

Answer 6

Angelman Syndrome

Question 7

missing section on chromosome 5
Key Features:
cat-like cry
microcephaly
intellectual disability
Speech-Language Implications:
receptive and expressive lang
artic and fluency
difficulty with feeding (coordination and oral-motor delays)
social skill difficulties

Answer 7

Cri Du Chat Syndrome