Disability

Question 1

What is retts syndrome?

Answer 1

Rare genetic disorder that affects brain development resulting in severe mental and physical disability

Question 1

What is retts syndrome?

Answer 1

Rare genetic disorder that affects brain development resulting in severe mental and physical disability

Question 2

Which gender is more likely to be affected by retts syndrome?

Answer 2

Girls

Question 3

4 stages of retts syndrome

Answer 3

Early signs
Regression
Plateua
Deterioration in movement

Question 4

What are stage 1 symptoms of Retts syndrome?

Answer 4

low muscle tone (hypotonia)
difficulty feeding
unusual, repetitive hand movements or jerky limb movements
delay with development of speech
mobility problems, such as problems sitting, crawling and walking
lack of interest in toy

Question 5

Stage 2 - regression - of Rett syndrome

Answer 5

loss of the ability to use the hands purposefully – repetitive hand movements are often difficult to control and include wringing, washing, clapping or tapping
periods of distress, irritability and sometimes screaming for no obvious reason
social withdrawal – a loss of interest in people and avoidance of eye contact
unsteadiness and awkwardness when walking
problems sleeping
slowing of head growth
difficulty eating, chewing or swallowing, and sometimes constipation that may cause tummy aches

Question 6

Symptoms of stage 3 of retts syndome

Answer 6

seizures, which may become more common
irregular breathing patterns may get worse – for example, shallow breathing followed by rapid, deep breathing, or breath holding
Gaining and maintaining weight can also be difficult to achievent
Improvement

Question 7

Symptoms of stage 4 - deterioration in movement

Answer 7

development of a spinal curve (the spine bending to the left or right side), known as scoliosis
muscle weakness and spasticity (abnormal stiffness, particularly in the legs)
losing the ability to walk
Communication, language skills and brain function do not tend to get any worse during stage 4. The repetitive hand movements may decrease and eye gaze usually improves.

Question 8

What causes Rett syndrome?

Answer 8

MECP2 gene on X chromosome

Question 9

Period of time of each stage of Retts syndrome

Answer 9

Stage 1 - from 6- 18 months
Stage 2 - 1-4 years, from 2 months to 2 years
Stage 3 - 2-10 years. Lasts for years

Question 10

Is Retts syndrome inheritable?

Answer 10

No, its spontaneous