Rett Syndrome Awareness Month
Rett syndrome is a rare non-inherited genetic postnatal neurological disorder that occurs almost exclusively in girls and leads to severe impairments, affecting nearly every aspect of the child’s life: their ability to speak, walk, eat, and even breathe easily. The hallmark of Rett syndrome is near constant repetitive hand movements while awake. Cognitive assessment in children with Rett syndrome is complicated, but we know that they understand far more than they can communicate to us, evidenced by their bright and attentive eyes, and their ability to express a wide spectrum of moods and emotions.
What is Rett syndrome?
Rett syndrome is a unique postnatal neurological disorder that is first recognized in infancy and seen almost always in girls, but can be rarely seen in boys.
Rett syndrome has been most often misdiagnosed as autism, cerebral palsy, or non-specific developmental delay.
Rett syndrome is caused by mutations on the X chromosome on a gene called MECP2. There are more than 200 different mutations found on the MECP2 gene. Most of these mutations are found in eight different “hot spots.”
Rett syndrome strikes all racial and ethnic groups, and occurs worldwide in 1 of every 10,000 female births.
Rett syndrome is a postnatal neurological disorder. It is not a degenerative disorder.
Rett syndrome causes problems in brain function that are responsible for cognitive, sensory, emotional, motor and autonomic function. These can include learning, speech, sensory sensations, mood, movement, breathing, cardiac function, and even chewing, swallowing, and digestion.
Rett syndrome symptoms appear after an early period of apparently normal or near normal development until six to eighteen months of life, when there is a slowing down or stagnation of skills. A period of regression then follows when she loses communication skills and purposeful use of her hands. Soon, stereotyped hand movements such as handwashing, gait disturbances, and slowing of the normal rate of head growth become apparent. Other problems may include seizures and disorganized breathing patterns while she is awake. In the early years, there may be a period of isolation or withdrawal when she is irritable and cries inconsolably. Over time, motor problems may increase, but in general, irritability lessens and eye contact and communication improve.
Rett syndrome is confirmed with a simple blood test to identify the MECP2 mutation. However, since the MECP2 mutation is also seen in other disorders, the presence of the MECP2 mutation in itself is not enough for the diagnosis of Rett syndrome. Diagnosis requires either the presence of the mutation (a molecular diagnosis) or fulfillment of the diagnostic criteria (a clinical diagnosis, based on signs and symptoms that you can observe) or both.
Rett syndrome can present with a wide range of disability ranging from mild to severe. The course and severity of Rett syndrome is determined by the location, type and severity of her mutation and X-inactivation. Therefore, two girls of the same age with the same mutation can appear quite different.
Rett syndrome presents many challenges, but with love, therapy and assistance, those with the syndrome can benefit from school and community activities well into middle age and beyond.
They experience a full range of emotions and show their engaging personalities as they take part in social, educational, and recreational activities at home and in the community.
About the Diagnosis
Rett syndrome (RTT) is most often misdiagnosed as autism, cerebral palsy, or non-specific developmental delay. There is a simple blood test to confirm the presence of the MECP2 mutation; however, since we know that the MECP2 mutation is also seen in other disorders, the presence of the MECP2 mutation in itself is not enough for the diagnosis of Rett syndrome. Diagnosis requires either the presence of the mutation (a molecular diagnosis) or fulfillment of the diagnostic criteria (a clinical diagnosis, based on observed signs and symptoms) or both. Below is a list of labs to share with your ordering physician that can do the MECP2 sequencing + deletion analysis, and the list of diagnostic criteria.
Requirements for Rett syndrome diagnosis
Consider diagnosis when postnatal deceleration of head growth observed.
Required for typical or classic RTT
· A period of regression followed by recovery or stabilization
· All main criteria and all exclusion criteria
· Supportive criteria are not required, although often present in typical RTT
Required for atypical or variant RTT
· A period of regression followed by recovery or stabilization
· At least 2 of the 4 main criteria
· 5 out of 11 supportive criteria
Criteria for Rett syndrome diagnosis
Main Criteria
· Partial or complete loss of acquired purposeful hand skills
· Partial or complete loss of acquired spoken language
· Gait abnormalities: Impaired (dyspraxic) or absence of ability
· Stereotypic hand movements such as hand wringing/squeezing, clapping/tapping, mouthing and washing/rubbing automisms
Exclusion criteria for typical RTT
· Brain injury secondary to trauma (peri- or postnatally), neurometabolic disease, or severe infection that causes neurological problems
· Grossly abnormal psychomotor development in first 6 months of life
Supportive criteria for atypical RTT
· Breathing disturbances when awake
· Bruxism when awake
· Impaired sleep pattern
· Abnormal muscle tone
· Peripheral vasomotor disturbances
· Scoliosis/kyphosis
· Growth retardation
· Small cold hands and feet
· Inappropriate laughing/screaming spells
· Diminished response to pain
· Intense eye communication – eye pointing
Click here to learn more about Rett syndrome
Source: Rettsyndrome.org
