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Rett's Syndrome - Rett's Syndrome Symptom, Cause, Treatment
Rett syndrome is a childhood neurodevelopmental disorder characterized by normal early development followed by loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, gait abnormalities, seizures, and mental retardation . Their neurological and mental development begins to stagnate between the ages of 7 and 18 months with slowing down of the growth of head circumference and a rapid deterioration of brain functions marked by autistic behavior, dementia, apraxia of gait, loss of facial expression, deterioration of purposeful use of hands, ataxia, and severe dementia Early in childhood, affected girls lose purposeful use of their hands and begin making repeated hand wringing, washing, or clapping motions. Stereotypical repetitive hand movements such as mouthing or wringing of the hands are also included as diagnostic signs. Hypotonia (loss of muscle tone) is usually the first symptom. The loss of functional use of the hands is followed by compulsive hand movements such as wringing and washing. The onset of this period of regression is sometimes sudden.
The atypical forms of this disorder range from a mild type, in which speech is preserved, to a very severe type that has no period of normal development. Another symptom, apraxia the inability to perform motor functions is perhaps the most severely disabling feature of Rett syndrome, interfering with every body movement, including eye gaze and speech. The inability to perform motor functions is perhaps the most severely disabling feature of Rett syndrome, interfering with every body movement, including eye gaze and speech.Other symptoms may include toe walking; sleep problems; wide-based gait; teeth grinding and difficulty chewing; slowed growth; seizures; cognitive disabilities; and breathing difficulties while awake such as hyperventilation, apnea (breath holding), and air swallowing.
Symptoms of Rett's Syndrome
Some common symptoms of Rett's Syndrome :
- No abnormal symptoms in the earliest months
- Negative change from normal early development into impaired abilities
- Avoiding looking into other people's eyes
- Head growth begins slowing (deceleration in head circumference) at approximately 5-6 months of age
- Loss of meaningful hand use, replaced by hand wringing or placement of hand in mouth
- Shaky, unsteady, or stiff gait; or toe walking
- Intermittent hyperventilation with a disorganized breathing pattern, air swallowing, and breath holding
- partial or complete inability to carry out purposeful movements
Causes of Rett's Syndrome
The common causes of Rett's Syndrome :
- With a diagnosis of Rett's syndrome, it is also important to consider whether there is an underlying condition causing Rett's syndrome.
- The cause of Rett syndrome is unknown.
- The mutions in the X chromosome causes damage in the muring brain. The severity of the rett syndrome varies.
- Synthesis of incorrect proteins, due to mutations in the gene, causes damage in the maturing brain
- They found that MeCP2, the protein that is altered in patients with the syndrome, plays a critical role in snipping and rearranging messenger RNA molecules that carry the genetic code for the construction of other proteins that are important for brain function. .
Treatment of Rett's Syndro
- Nutritional supplements
- Medication may be needed for breathing irregularities and motor difficulties, and antiepileptic drugs may be used to control seizures.
- The primary treatment for Rett syndrome includes supportive care to assist the patient with feeding and other aspects of daily life, and physical therapy to keep the muscles of the hands from contracting.
- Supportive care (assistance with feeding, diapering, and treating symptoms like constipation and GERD).
- Medication, like carbamazepine, to treat seizures.
- Since the hands are not used, physical therapy is necessary to prevent them from contracting
- Various other treatments, including carnitine and ketogenic diet, have been tried, but without promising results
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