Women are predominantly affected by Rett Syndrome, a rare neurodevelopmental disorder. In this article, we examine the causes, symptoms, diagnosis, treatment, and prevention of Rett Syndrome, which typically begin in early childhood and progressively worsen over time.
Causes
A mutation in the MECP2 gene located on the X chromosome is primarily responsible for Rett Syndrome. It is rare for Rett Syndrome to be inherited in an X-linked dominant manner, but most cases occur sporadically, due to random mutations in the MECP2 gene.
Symptoms
There can be a variety of symptoms associated with Rett Syndrome, including:
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Children with Rett Syndrome often lose previously acquired developmental skills, such as language, motor skills, and social interaction.
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Rett Syndrome is characterized by repetitive hand movements such as wringing, clapping, or tapping.
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Abnormal breathing patterns, including hyperventilation and apnea (brief pauses in breathing), may occur.
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People with Rett Syndrome often experience difficulties walking, coordinating, and balancing.
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Epileptic seizures are common in individuals with Rett Syndrome, and their severity can vary.
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Most individuals with Rett Syndrome have moderate to severe intellectual disabilities.
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Individuals with Rett Syndrome may experience aggression, anxiety, and mood swings.
Diagnosis
Genetic testing is used to confirm the presence of MECP2 gene mutations in Rett Syndrome. Diagnostic criteria for Rett Syndrome include:
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The loss of purposeful hand skills and acquired spoken language.
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Hand movements that are repetitive are developed.
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Social engagement declines.
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Impaired coordination and abnormal gait.
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Stereotypical hand movements, such as hand-wringing and clapping.
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Cognitive and social skills are lost.
Treatment
Rett Syndrome is treated by managing symptoms and improving quality of life. Treatment options include:
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In order to address the diverse needs of individuals with Rett Syndrome, a team-based approach involving neurologists, physical therapists, occupational therapists, speech therapists, and behavioral therapists is recommended.
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In order to manage specific symptoms associated with Rett Syndrome, such as seizures, sleep disturbances, or behavioral problems, medications may be prescribed.
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People with Rett Syndrome may benefit from adaptive equipment, mobility aids, and communication devices.
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Behavioral therapy, sensory integration therapy, and other supportive interventions may assist with behavioral and emotional challenges associated with Rett syndrome.
Prevention
As Rett Syndrome is primarily caused by genetic mutations, there is no known method of preventing it. Families with a history of Rett Syndrome or genetic mutations associated with the condition may, however, be offered genetic counseling to assess their risk of recurrence in future pregnancies.
