October is Rett Syndrome Awareness month held annually. Raising awareness about Rett syndrome is important to whole community.
What have you acknowledged about Rett Syndrome?
Rett Syndrome (RS) is a neurological disorder seen primarily in females, and found in a variety of racial and ethnic groups worldwide. First described by Dr. Andreas Rett, RS received worldwide recognition following a paper by Dr. Bengt Hagberg and colleagues in 1983.
RS is most often misdiagnosed as autism, cerebral palsy or non-specific developmental delay. While many health professionals may not be familiar with RS, it is a relatively frequent cause of neurological dysfunction in females.
The child with RS usually shows an early period of apparently normal or near normal development until 6-18 months of life. Then Rett Syndrome can pass through stages:
STAGE I
Early Onset Stage
Age: 6 months to 1 ½ years
Duration: months
This stage is usually overlooked, as the symptoms of RS are just emerging and are somewhat vague. The infant may show less eye contact and have reduced interest in toys. She is often described as a “good” baby, calm and placid. There may be delays in gross motor milestones. Non-specific hand wringing and decelerating head growth may be present.
STAGE II Rapid Destructive Stage
Age: 1 to 4 years
Duration: weeks to months
This stage can have a rapid onset or it can be more gradual as purposeful hand skills and spoken language are lost. Stereotyped hand movements begin to emerge, and often include hand-to-mouth movements as the first expression. Movements are most often midline hand wringing or hand washing, and persist while the girl is awake but disappear during sleep. Other hand movements include hand clapping or tapping. Hands are sometimes clasped behind the back or held at the sides in a specific pose, with random touching, grasping and releasing. Breathing irregularities may be noticed, and may include episodes of breath holding and hyperventilation associated with vacant spells. However, breathing is normal during sleep. Some girls appear autistic-like with loss of social interaction and communication. General irritability and sleep irregularity may be seen. Periods of tremulousness may be obvious, especially when excited. Gait patterns are unsteady, and initiating motor movements can be difficult. Slowing of head growth is usually noticed from 3 months – 4 years, when the girl’s head circumference falls on a percentile chart (compared to children at the same age).
STAGE III Plateau Stage
Age: Preschool to school years
Duration: years
This stage, from 2-10 years, follows the rapid destructive period. Apraxia, motor problems and seizures are more prominent. However, improvement is seen in behavior with less irritability and crying and less autistic features. She shows more interest in her surroundings, and her alertness, attention span and communication skills improve. Many girls with RS remain in Stage III for most of their lifetime.
STAGE IV A (Previously ambulant)
STAGE IV B (Never ambulant)
Late Motor Deterioration Stage
Age: When stage III ceases, 5-15-25-? Years
What will happen to those with RS?
The child with RS usually shows an early period of apparently normal or near normal development until 6-18 months of life. A period of temporary stagnation or regression follows during which the child loses communication skills and purposeful use of the hands. Soon, stereotyped hand movements, gait disturbances, and slowing of the rate of head growth become apparent.
Other problems may include seizures and disorganized breathing patterns which occur when awake. Apraxia (dyspraxia), the inability to program the body to perform motor movements, is the most fundamental and severely handicapping aspect of RS. It can interfere with every body movement, including eye gaze and speech, making it difficult for the girl with RS to do what she wants to do. Due to apraxia and lack of verbal communication skills, an accurate assessment of intelligence is difficult.
What you can do to help?
You can join in IRSA ( International Rett Syndrome Association) to find out more information.
But you can now read this to know how about RS treatment and therapies: Physical therapy should be aimed at maintaining or improving ambulation and balance, maintaining full range of movement or at least functional movement, and at preventing deformities. Occupational therapy should be used to promote and improve the use of the hands. Studies have shown that decreasing the repetitive hand movements can lead to greater alertness and better focus, as well as helping to decrease agitation and self-injurious behavior. Intermittent use of hand or elbow splints may be useful in reducing these hand movements and may encourage more purposeful use of the dominant hand. Intermittent weighted immobilization of one hand can also be a useful approach. Music therapy is used as an adjunct to other therapies, and is useful in promoting communication and choice making. Horseback riding and hydrotherapy promote balance and help develop protective responses, in addition to being very relaxing and enjoyable.