Other Syndromes and AAC

Question 1

Down Syndrome (DS)

Answer 1

Most common chromosomal disorder. Has 3 genetic causes.

Question 2

DS causes:

Answer 2

1. Trisomy (3 x C21, instead of 2).
2. Translocation
3. Mosaicism

Question 3

DS Health Issues

Answer 3

40% have cardiac malformations/congenital heart disease.
Endocrine abnormalities. leading to hypothyroidism.
GI malformations.
Orthopaedic problems with ligaments and partial dislocation of spine.
Obstructive sleep apnoea.
Eczema
Higher risk of leukaemia.
Often dual diagnosis.

Question 4

Physical characteristics of DS

Answer 4

Short stature, limbs and fingers.
Hyperextendable joints.
Low muscle tone
Specific facial features
Small ears with possible abnormalities such as absent ear lobe.
Vision difficulties

Question 5

Speech in DS

Answer 5

Restriction of tongue movement - small oral cavity and narrow palate.
Delayed onset and development.
Inconsistent error patterns, possibly due to structural differences and hypotonia.
Vocal quality - e.g. breathy and husky.
Hypernasality - too much nasal air emission.

Question 6

Language with DS

Answer 6

Significant delays are somewhat common.
Expressive language more impacted.
Language comprehension difficulties further complicated by poor verbal STM skills.
Syntax development more impaired than vocabulary development.

Question 7

Total Communication Approach (TCA)

Answer 7

Combined use of signs/gestures with speech to facilitate communication development.

Question 8

TCA and DS

Answer 8

Recommended for population to support transition to speech.

Question 9

William’s Syndrome (WS)

Answer 9

Rare genetic condition causing medical and developmental problems.

Question 10

WS cause

Answer 10

Deletion from long arm of C7.

Question 11

Incidence and Testing

Answer 11

WS has I = 1/7500 live births.
Tested = fluorescent in situ hybridisation (FISH)

Question 12

WS Health Issues

Answer 12

Congenital heart disease
Intra uterine growth restriction
Hearing issues (over-sensitive to certain f).
Visual difficulties, incl. turn of eye.
Kidney abnormalities
Elevated blood calcium - thought to cause colic symptoms.

Question 13

WS Characteristics

Answer 13

Elfin facial features - small nose, wide mouth, small teeth.
Excessively social, outgoing, unafraid of strangers.
Developmental impacts - mild through to severe.

Question 14

WS - Speech and Lang

Answer 14

Good articulation.
Echolalic
Can have incessant chatter at superficial level with correct sentences.
May appear expressively advanced but lack receptive skills to match.
Word finding difficulties.

Question 15

Intervention for WS

Answer 15

Language stimulation to increase vocab and comprehension.
Using picture schedules for understanding.
Phonemic cueing for WFD.
Structured setting recommended.

Question 16

Fragile X (FX)

Answer 16

Hereditary X-linked genetic disorder. Most common inherited cause of intellectual disability.

Question 17

FX incidence and testing

Answer 17

1/1000 males, 1/2000 females.
Can be genetically tested.

Question 18

FX Characteristics

Answer 18

Elongated and narrow face.
Prominent jaw and other facial features.
Seizures common
Gastro-oesophageal reflux
OM is common
Cardiac issues common

Question 19

FX Features

Answer 19

Hypotonicity and joint laxity
Small hands, flat feet.
Vision difficulties including eye turn, far sightedness.
Males often have mild to severe cognitive delay.
Females often have normal to mild cognition.
Hyperactivity, impulsivity and reduced attention.

Question 20

FX Speech and Lang

Answer 20

Slow to feed or poor feeders
Communication skills reflect cognitive delay.
Articulation difficulties
Echolalia
Perseveration (repetition)