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Rett Syndrome

Rett syndrome is a neurodevelopmental disorder that is classified as a pervasive developmental disorder by the Diagnostic and Statistical Manual of Mental Disorders (DSM-IV) the last major revision of which was published in 1994, I am aware that the DSM-IV is presently in consultation, planning and preparation, due for publication in May 2012, I am also currently aware a draft of which will be available in early 2009 for comment, which I am looking forward to viewing.

It is thought a t least one in every 10,000 females born has Rett syndrome. It is also believed to be the second most common cause of severe and profound learning disability in girls. A large proportion of people who have Rett syndrome have a mutation, or fault, on the MECP2 gene on the X chromosome.

More often than not individuals with Rett syndrome are female however, the infant with Rett syndrome may very often avoid detection until 6-18 months due to a relatively normal appearance and some developmental progress. However on closer observation it may reveal disturbance of the normal spontaneous limb and body movements that are thought to be regulated in the brain stem. Typically, children with Rett syndrome begin by developing fairly normally but go through a period of regression, losing acquired skills; this can be accompanied by distress and anxiety. The brief period of developmental progress is followed by stagnation and regression of previously acquired skills. During regression some features are similar to those of autism. It is, hence, easy to mistakenly diagnose Rett syndrome for autism.

Symptoms of Rett syndrome that are similar to autism:

screaming fits

panic attack

inconsolable crying

avoidance of eye contact

lack of social/emotional reciprocity

general lack of interest

markedly impaired use of nonverbal behaviors to regulate social interaction

loss of speech

Balance and Coordination problems, including losing the ability to walk in many cases.

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Symptoms of Rett syndrome that are also present in cerebral palsy (regression of the type seen in Rett syndrome would be unusual in cerebral palsy; this confusion should rarely be made):

possibly short stature, and/or might be unusually proportioned because of difficulty walking or malnutrition which may be brought about aas a result of difficulty in swallowing. also bruxism which is grinding of the teeth

hypertonia (often involving reduced muscle strength) delayed or absent ability to walk, gait/movement difficulties. or even Chorea a for of spasmaodic movements of the hand or face muscles.

Symptoms may stabilize for many decades, particularly for interaction and cognitive function such as making choices. Anti-social behavior may change to highly social behavior. Motor functions may slow as rigidity and dystonia appear in which sustained muscle contractions cause twisting and repetitive movements or abnormal postures.

 

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I have placed the following of interest, please click on one of the following:

 

1, "Predictors of Seizure Onset in Rett Syndrome" Le Jian et al.

2, "The Story of Rett Syndrome: From Clinic to Neurobiology." Chahrour et al. Neuron, Vol 56, 422-437, 08 November 2007"

3,"Autism-like disorder 'reversible'" from BBC News, 8 February 2007

 

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