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October is Rett syndrome awareness month, a disorder that affects mostly little girls. What is it, and how can we deal with it?
Rett syndrome is a neurodevelopment disorder that is found mostly in girls. There is initial normal growth, which then slows down there is loss of purposeful use of hand, very distinctive hand movements, slowing of brain and head growth. Eventually there are problems with gait and ambulance, seizures and intellectual disability.
This was identified by Dr. Andreas Rett and described in a journal in the year 1966, however it was official recognized in 1983 following a second article by Dr.Bengt Hagberg in a Swedish journal.
In India what happens is – we tend to label those with a neurological disability as ‘retarded’ – something that is very wrong, but the girls with Rett syndrome and their families bear the stigma of it. So it is best to be informed better.
The onset and severity of Rett syndrome varies with individuals, but it happens due to a genetic mutation, and early signs and symptoms can ve seen in affected girls as young as 6 months old.
There are minor indicators like hypotonia or loss of muscle tone, there could be difficulty in feeding, and jerkiness in limb movements. The physical and mental symptoms show up later. The child could lose use of hands, and speech gets affected. There could be diminished eye contact and difficulty in crawling or walking. The loss of hand movements could be coupled with compulsive hand movements like wringing the hands or washing.
The symptoms sometimes begin very suddenly. The most severe disability due to Rhett’s syndrome is apraxia or the inability to perform motor functions. This could affect every body movement including eye gaze and speech.
Early symptoms could mimic autistic behaviour, walking on the toes, disturbed sleep patterns, wide based gait, bruxism, difficulty in chewing, growth milestones are delayed, and seizures, cognitive disability and breathing difficulty like hyperventilation or apnoea can be seen.
Stage 1 – early onset stage
This begins between 6-18 mnths, and could be missed, but less eye contact and a disinterest in toys is a key sign. There could be delay in gross motor skills like crawling, sitting, hand wringing could be there. There could also be hand wringing and delayed head growth but not enough to cause worries. This stage can last almost up to a year.
Stage 2 – rapid destructive stage
Between the ages 1-4, could last for weeks or months. There is gradual speech and purposeful hand movements. Repetitive movements like wringing, washing, clapping or tapping, repeated hand to mouth movement often begins at this stage. The child could develop habits like clasping the hands behind, or random touching, grasping and releasing. These movements are there when the child is awake but not there in sleep. There could be episodes of apnoeas and hyperventilation, again not during sleep.
Many girls develop autistic signs like loss of social interaction communication. Gait becomes unsteady and initiating motor movement becomes difficult. The slowing of head growth is usually observed at this stage.
Stage 3 – pseudo-stationary stage
Is the pseudo-stationary stage where the symptoms are at a plateau, and usually begins between 2-10yrs. This can last for years. Apraxia and seizures are prominent in this stage. However there might be a reduction in autistic like traits, irritability and crying might reduce. They even begin to show interest in the surroundings. Many girls remain in this stage for most of their lives.
Stage 4 – late motor deterioration stage
The late motor deterioration stage, this can last for years or decades. The most prominent feature here is reduced mobility, curved spine, and muscle weakness, there is rigidity and increased muscle tone due to abnormal posturing of an arm, leg or upper part of the body. Girls who were able to walk and move earlier might stop walking, cognition, communication or hand skills do not deteriorate, repetitive hand movements may decrease and eye gaze usually improves.
Rhett’s syndrome is linked to malfunction of the MECP2 gene on the X chromosome, but further research is underway. However despite being a genetic disorder most cases are either spontaneous, that is due to random mutation.
Many of the girls affected by Rett syndrome have asymptomatic siblings. The prevalence is 1:10,000 or 1:15,000 live female births worldwide, across ethnic groups. Genetic screening can be done if the family is having a second child, when the first one is exhibiting Rett syndrome; however the possibility of the second child manifesting the disorder is about 1% because it is rarely carried to the next generation, being due to a random mutation.
Since this is an X-linked genetic disorder the severity of expression depends on the second X gene. However, if a boy lands up with MECP2 mutation then it becomes severely problematic, as they do not have a 2nd X chromosome with a normal gene, to make it milder, and they have a very short life span.
Diagnosis occurs by observing signs and symptoms of early growth and development, evaluating the neurological and physical milestones.
Recently a genetic test has developed to complement the clinical diagnosis. The confirmation occurs on consultation with a paediatric neurologist, clinical geneticist, or developmental paediatrician. The physician uses specific guidelines to classify the patients into main, supportive and exclusion using the clinical criteria. The presence of any exclusion criteria negates a diagnosis of classical Rhett syndrome.
Currently there is no cure for Rhett’s syndrome. It is managed symptomatically, and may need an approach close to that of managing a disability – supportive, and requires multidisciplinary approach.
Medications can be used for breathing irregularities and motor difficulties. Anticonvulsants are useful to handle seizures.
Regular monitoring is required to ensure cardiac health and sclerosis. Occupational therapy is required make the child self reliant. Sometimes aids like splints or braces may help to modify the hand movements.
Image source: shylendrahoode from Getty Images Free for Canva Pro
Dentist, Hypnotherapist and Hypnotherapy trainer, Medical writer, published author, Blogger, Theater activist and trainer, Toastmasters AC. When I am not in my primary role of mother and Healer I wear whatever hat that I fancy. read more...
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