Rubinstein-Tabi Syndrome

Question 1

What is the prevalence of RTS?

Answer 1

1 in 125,000 births

Question 2

What is the cause of RTS?

Answer 2

Multiple Congenital Anomaly Syndrome:

• Breakpoints, mutations and microdeletions in chromosome 16p13.3
• Heterozygous point mutations in CBP gene
• E1A Binding Protein P300 implicated

Question 3

What is the percentage of cases that a genetic marker is found in?

Answer 3

55%

Question 4

Describe the physical phenotype of RTS.

Answer 4

Broad thumbs and toes
Microcephaly
excessive hair growth
dental abnormalities
beaked nose
long eyelashes
thick eyebrows
small mouth
enhanced appetite
renal abnormalities
constipation
increased risk of cancer
keloids

Question 5

What type of ID is most common?

Answer 5

Moderate, but ranges from mild to profound.

Question 6

What is the behavioural phenotype?

Answer 6

emotional and excitable
sleeping difficulties
sociability
"stubborness"
repetitive behaviour
Impulsivity and hyperactivity

Question 7

What is the prevalence of autism in RTS?

Answer 7

64.9% (Povis, 2014)

Question 8

What behaviours did Waite et al. (2016) find partial specificity in?

Answer 8

Repetitive behaviours:

• echolailia
• questions
• phrases
• routine
• hoarding
• stereotyped behaviours

Question 9

What is the main deficit of cognition in RTS?

Answer 9

Executive function

Question 10

Describe Turner’s hypothesis.

Answer 10

From autism literature, describes 3 cognitive deficits which lead to repetitive behaviours.

1. Working memory: impaired = reptitive questions
2. Inhibition: can’t stop once started = repetitive behaviours
3. Task switching: routine change = temper outbursts

Question 11

Describe Waite et al. (2012).

Answer 11

• 32 participants across country
• task difficulty increased with developmental age e.g. ball to bucket of opposite colour -> point to opposite colour word
• Inhibition, memory and shifting tasks
• RTS: delayed relative to mental age, but follow similar trajectory
• spatial span = key weakness
• Link between memory, inhibition and repetitive speech
• specific repetitive behavioural profile: high sterotypy, repetitive questions, hoarding and routine.

Question 12

What are 3 interventions for RTS?

Answer 12

• cognitive training
• diaries and memory aids
• establish flexible structure

Question 13

what did Oliver et al. (2010) state in the summary of RTS?

Answer 13

• Males and females are equally affected
• 90% have speech difficulties
• Vulnerable to social exploitation
• 75% insist on sameness/routine
• increase in mood changes, temper tantrums and uncertain behaviours and aggression with age