Retts Syndrome

From LoveToKnow Autism

Retts syndrome is a neurological conditions classified in the autism spectrum of disorders. An Austrian physician, Dr. Andreas Rett, identified the condition in 1966 but the disorder was not officially recognized until 1983.

Children with Rett Syndrome

Symptoms of Retts Syndrome

Retts syndrome is one of the five pervasive developmental disorders outlined in the DSM-IV and it shares many of the symptoms of autism in children, particularity stereotyped repetitive movements. Children who have Retts disorder seem to have normal early development followed by marked regression. Symptoms include:

Hypotonia (muscle tone loss)
Loss of speech
Loss of fine motor skills
Loss of gross motor skills
Slowed brain growth
Seizures
Learning disability
Diminishing eye contact
Self-stimulatory behaviors

The onset of the symptoms can appear abruptly with marked loss of skills occurring in a remarkably short period.

Apraxia

Apraxia is a condition that interferes with the person’s ability to execute motor functions. This is one of the most troublesome symptoms of Rett disorder because it impairs body movement and hand skills. All aspects of body movement are at risk of impairment including speech and eye gaze.

Causes of Rett’s Disorder

The notion that autism spectrum disorders have genetic components is supported by the causes of Rett disorder. The condition arises from a mutation in the MECP2 gene, pronounced meck-pea-two. The gene is present on the X chromosome.

The mutation is believed to interfere with the proper functioning of other genes. The MECP2 gene processes methyl cytosine protein. The protein serves as a biochemical switch that tells other genes to quit producing their specific proteins. The result is the production of abnormal or insufficient proteins.

Further research is required to determine how exactly the irregular proteins affect the body.

Retts in Males

Retts syndrome is typically associated with females because it is fatal in males. Females have two X chromosomes while males have one. Only one X chromosome is active in the cells, so roughly half of the cells in the nervous system in girls are affected.

All of the cells are affected in boys who have Retts. There is no backup copy of the X chromosome to provide any protection from the defected gene. Boys who have Retts disorder die before or shortly after birth.

Four Stages of Rett Syndrome

Stage I

The first stage of Retts is early onset, beginning between the ages of 6 and 18 months. Symptoms of this stage can be quite subtle, making it difficult to detect in many cases. Infants may exhibit:

Loss of interest in toys
Less eye contact
Delay or regression in sitting
Delay or regression gross motor skills
Decreased head growth
Hand movements like wringing and flapping

The early onset stage lasts the course of a few months or a little more than one year.

Stage II

Stage II is rapid destructive, typically beginning between one and four years of age. During this stage, the toddler experiences rapid or gradual loss of language and social skills. Stereotyped repetitive movements replace purposeful hand movements. Marked regression appears along with sleep disturbances and slowed head growth.

The second stage lasts a few weeks or a few months. The loss of proper functioning begins to slow as the child enters Stage III.

Stage III

Stage III is the plateau or pseudo-stationary, beginning between the ages of 2 and 10 years. The child may demonstrate improvements in behavior and an increased interest in her environment. Social and communication improvements may also surface. Problems in this stage include seizures and apraxia.

Stage III is the longest, with many remaining in the phase for most of their lives. Some experience Stage IV.

Stage IV

Stage IV is the late motor deterioration that consists of mobility problems including weak muscles, abnormal posture, rigidity, and curvature of the spine. Cognition, fine motor skills and communication skills do not decline during this phase and there may be improvements in eye contact and self-stimulatory behaviors.

Stage IV does not occur in every case of Rett’s disorder. The phase lasts years or decades for girls and women who experience it.

Rett syndrome is a rare condition that is still under investigation. As research, more information and treatments for Retts develop.

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