Setting the gold standard for Rett Education

Rett Syndrome

Some of this content has been downloaded from the reverse rett web-site & has been modified for this purpose.

Rett Syndrome is a pervasive developmental disorder (PDD). PDDs are a spectrum of diseases that impair or arrest a child’s development, or cause its regression. The condition was first reported in 1966 by Dr Andreas Rett (an Austrian paediatric neurologist).Rett Syndrome nearly always affects girls.The disease affects nearly every aspect of these girls’ lives; taking away their ability to walk, talk and use their hands. Many girls have problems with breathing and eating. Many have seizures.

Research has shown that girls with Rett Syndrome do not have brain damage. They know and understand much more than their bodies allow them to show – but they are locked in, trapped by a body that cannot obey signals from their brain.

Rett Syndrome is most often caused by a spontaneous genetic mutation and can occur in any family at any time. It affects around 1:10,000 live female births.

Whilst there is currently no treatment for Rett Syndrome, there is hope.

In 1999 scientists identified the genetic mutation that causes Rett Syndrome. In 2007, they unexpectedly reversed the condition in mouse models of even late stage disease. They know and understand much more than their bodies allow them to show – but they are locked in, trapped by a body that cannot obey signals from their brain.
Rett education is all about helping these girls now, to give them chances of a more full-filling life, while waiting for that treatment.

The characteristic features are:

Stage 1 – developmental arrest

  • Typically from 6-18 months.
  • Tends to be gross motor developmental delay, loss of eye contact and a waning interest in play.
  • Hypotonia may be present.
  • Hand-wringing is noted and is a very characteristic feature.
  • Symptoms can be vague and the only abnormality may be unusual placidity when compared with a normal child.

Stage 2 – rapid developmental deterioration or regression

  • Typically age 1-4 years
  • May be a sudden onset of deterioration with an identifiable day when things changed; however it may be a more subtle onset and progression in some cases.
  • Early growth restriction may be noted in falling off of head circumference from growth curve.
  • There are autism-like behaviors with loss of verbal and other communication, hand use and social interaction.
  • There are abnormalities of hand movements when the patient is awake, with the hands usually held in midline; there may be hand-wringing, clapping, hand washing or movements from hand to mouth.
  • There may be episodes of hyperventilation or breath-holding.
  • There can be vacant spells (that may resemble some forms of partial seizure) and actual fits.
  • Sleep can be disturbed.
  • Intermittent strabismus may be noted.
  • The child may present with irritability.

Stage 3 – stationary or pseudostationary phase

  • Typically aged 2-10 years.
  • There may be an improvement in behaviour, use of the hands and communication skills.
  • Eye contact returns and nonverbal communication may be exploited.
  • Generalised rigidity, bruxism and movements of the tongue may occur.
  • Motor dysfunction or dystonia may be present.
  • Breathing abnormalities can persist.
  • Children may eat well, but put on little weight and are very low in the centile charts.
  • Feeding may start to present difficulties due to oral motor dysfunction.

Stage 4 – late motor deterioration

  • Typically occurs after the age of 10 years.
  • Cognitive, communication and hand skills usually remain stable.
  • Generalised motor dysfunction such as dystonia, hypertonia and Parkinsonism can present.
  • Walking may cease.
  • If there are fits, they tend to be less frequent in this stage.


Stage 1

Developmental assessment will reveal:

  • Gross motor developmental delay.
  • Loss of eye contact.
  • Growth deceleration as revealed by weight, height and head circumference charts.
  • Hypotonia with hand-wringing.

Stage 2

  • Autism-like behaviour begins to emerge – particularly, poor social interaction, poor communication and loss of language.
  • The abnormal, stereotyped midline hand movements will be evident.
  • Episodes of hyperventilation or breath-holding may be witnessed, along with vacant episodes or seizures.

Stage 3

  • Bruxism (grinding the teeth).
  • Involuntary movements of the tongue.
  • Poor weight gain.
  • Scoliosis.

Stage 4

  • Dystonias
  • Rigidity
  • Quadriparesis
  • Muscle wasting
  • Scoliosis/kyphoscoliosis
  • Growth restrictionmental
  • Breathing abnormalities

NB: hand movements and eye contact tend to improve.