Home > Common Disorders > What is Rett Syndrome?

What is Rett Syndrome?

By: Beth Morrisey MLIS - Updated: 25 Sep 2012 | comments*Discuss
 
Rett Syndrome Autism Spectrum Loss Of

Rett Syndrome is a developmental disorder in the autism spectrum that occurs almost always in girls, though it has been seen in boys in rare cases. It becomes apparent in infancy when a baby girl seems to develop as normal for a few months, but then anywhere between three months and three years of age the girl will stop developing and even lose the skills that she had already acquired. The loss of speech is common in Rett Syndrome and is often one of the first skills lost.

Symptoms of Rett Syndrome

The plateau and even loss of skills and abilities are two of the defining symptoms of Rett Syndrome. The loss of purposeful hand movements (grasping, reaching and touching on purpose), loss of speech, balance problems, disorganised breathing patterns like hyperventilation or breath holding, coordination problems, stereotypic hand movements (particularly wringing), anxiety and social and behavioural problems are all common symptoms of Rett Syndrome. Commonly associated issues, though not necessarily considered symptoms, include scoliosis of the spine, seizures, heart problems, trouble with chewing and swallowing as well as disrupted sleep. Rett Syndrome includes a wide range of symptoms as well as a wide range of symptoms levels from mild to severe, so girls with Rett Syndrome may not always seem similar to the average observer.

Phases of Rett Syndrome

There are four recognised phases of Rett Syndrome. Early Onset Phase begins when a girl's normal development stalls or stops completely. Rapid Destructive Phase begins when the girl loses the skills and abilities she had previously acquired. The loss of speech and purposeful hand movements tend to be the first symptoms of this phase. Plateau Phase begins when the girl's regression slows down and might even appear to improve. This Phase can be prolonged, and in fact many girls with Rett Syndrome will be considered to be in Plateau Phase for most of their lives. Late Motor Deterioration Phase then is characterised by a loss of muscle tone that leaves a girl stiff and possibly even immobile, though with no further decline of cognition or communication skills.

Diagnosis of Rett Syndrome

A diagnosis of Rett Syndrome requires both a molecular diagnosis and a clinical diagnosis. This means that a genetic mutation, MECP2, must be confirmed (molecular diagnosis) and diagnostic criteria must be met (clinical diagnosis). This diagnostic criteria includes the symptoms, such as loss of purposeful hand movement, loss of speech and stereotypic hand motions, which can easily be observed.

Treatment of Rett Syndrome

Rett Syndrome involves a number of different symptoms in a number of different parts and systems of the body. There is no cure for Rett Syndrome, so treating it means attempting to slow the loss of abilities, improve a girl's movement and help her communicate with others. Physical therapists, occupational therapists and speech-language therapists will all be a part of the treatment team for a girl with Rett Syndrome. Speech-language therapists will help girls communicate without speech, such as through picture boards, letter or word boards, communication devices such as voice output devices or even eye gaze responses.

Rett Syndrome is developmental disorder characterised by a loss of purposeful skills including the loss of speech. Girls with Rett Syndrome can be treated by a team of therapists and movement and communication can be improved, but Rett Syndrome can not be cured at this time. Finding adaptive techniques for communication is a large part of treating girls with Rett Syndrome so that they can continue their lives and educations despite their unique challenges.

You might also like...
Share Your Story, Join the Discussion or Seek Advice..
Why not be the first to leave a comment for discussion, ask for advice or share your story...

If you'd like to ask a question one of our experts (workload permitting) or a helpful reader hopefully can help you... We also love comments and interesting stories

Title:
(never shown)
Firstname:
(never shown)
Surname:
(never shown)
Email:
(never shown)
Nickname:
(shown)
Comment:
Validate:
Enter word:
Topics
Latest Comments
  • Roxy
    Re: Dysprosody
    It's been 39 years ago since I had the accident that affect my frontal lobe area & caused me to have DYSPROSODY. Well when I was 4 years back in 1980…
    14 January 2020
  • Big.
    Re: What is Backing Disorder?
    Shar, you are exactly correct. It is all over TV, especially in news departments. Had to listen to Michelle Obama for 8 years talk…
    7 January 2020
  • Shar
    Re: What is Backing Disorder?
    I noticed so many people on television with the S backing and it drives me nuts but my friend says it's a speech impediment and they…
    9 December 2019
  • Kathy
    Re: Auditory Verbal Therapy
    What kind of treatment and needed to help his disorder How to explain why he needs get treatment How it help him in life Katheen…
    15 October 2018
  • Jen
    Re: Expressive Language Disorder
    @seaside123 - have to been to see your doctor because your doctor will help you and refer you to the right counselling for you :(
    31 May 2018
  • SylvieBH
    Re: Child Abuse and Speech Disorders
    @Overcomer - I hope you managed to sort out all your psychological issues too. Well done Miss H. We all need teachers like…
    3 April 2018
  • Overcomer
    Re: Child Abuse and Speech Disorders
    I didn’t know what my father and one of my brothers was doing to me was abuse until I was in 5th grade. I knew it mad me…
    2 April 2018
  • ElizabethR
    Re: Child Abuse and Speech Disorders
    @Wannabehappy - I'm not surprised this hasn't left you - especially if you have not dealt with these issues. Counselling is…
    29 March 2018
  • Wannabehappy
    Re: Child Abuse and Speech Disorders
    As baby my mother abonden me and I was raise by my grandma and dad. Don’t know why but I remember that dad used to make fun…
    29 March 2018
  • mukku
    Re: Stammering
    i have stammerig with anxiety so how to cure
    2 March 2018