Rett Syndrome
Rett Syndrome for Girls Only
Rett syndrome is very rare neurological disorder that affects the brain. The disorder primarily effects girls only, but there has been reported cases of males with the disorder. The disorder is rare, it effects one in every 10,000 to 15,000 females, in all racial and ethnic groups.
Rett syndrome effect one in every 100,000 males. Rett Syndrome impairs the child’s speech, motor functions, daily activities, and respiratory functions. Rett Syndrome is usually diagnosed in the first two years of life. Rett Syndrome is caused by a mutation in a gene. There is currently no cure for the syndrome, but there are treatments and therapy that can aid the child and her family.
What is Rett Syndrome Rett Syndrome is a …show more content…
rare genetic neurological and developmental disorder. The brain does not develop correctly and the child’s ability to use her muscles will progressively get worse. The muscles of the respiratory are also affected. The children develop severe apraxia.
The children with Rett Syndrome appear to develop normally and meet babies first milestones, until the age of six months.
The skills they previous had, will begin to decrease. The common areas that are affected are the child’s ability to crawl, walk, talk, and use her hands. Rett syndrome can also cause seizures, and hinder the child’s intellectual ability. (Zoghbi, 2007) As the child grows, they will continue to loss muscle control, coordination, and communication skills. Rett Syndrome was identified by Dr. Andreas Rett, in 1966, but truly recognized as a syndrome until 1983. (Fields, 2015) Symptoms Babies with Rett syndrome are born, without any complications, and will develop normally until six months of age. The parent may notice a slow decline in the child’s progress.
The physical change will begin on examination, the baby’s head will measure smaller for the child’s age, as the child grows, usually after the age two, the delayed growth in other body part will become noticeable.
Loss of Movement The child will normally experience loss of control in their hands first. The child will not be able to grasp objects, or hold a parent finger as they pervious did. The child will then slowly lose the ability to crawl or walk steadily, and with time they may lose the ability to walk at …show more content…
all.
There are different severities of the syndrome, and not every child will experience the same symptoms and severity. The child may experience muscle spasms and muscle rigidly. The spasticity and rigidly can be very painful for the child. (Fields, 2015)
Loss of Communication The children with Rett Syndrome often lose their ability to talk, the onset is usually very fast. The child also loses the ability to express themselves with facial movements and expression with their eyes. The loose of communication often depresses a child to the point that they become withdrawn, and will interest in objects they once enjoyed. The total loss of communication is usually temporary, with therapy, the child could regain some verbal communication, facial movements, and other non-verbal communicating skills. Augmentative or alternative communication, (AAC) uses a variety of communication methods. The different methods will change and grow with the child. (Zangari, 2014) It is very important to keep the child engaged and encourage verbal and nonverbal communication.
Abnormal Hand Movements The child often experiences repetitive, or purposeless hand movements. The common hand movements are: hand wringing, squeezing, clapping, tapping, or rubbing. The child my experience one of the movements or a variety of them, it depends on the severity of symptoms’ the child experiences.
Unusual Eye Movements A child with Rett syndrome may have long periods of staring, blinking, or keeping one eye closed at a time. The muscles around the become weak, with therapy the muscles can regain some strength. Rett syndrome does not affect the child’s vision.
Breathing Problems Children with Rett Syndrome often develop abnormal breathing problems. The child may swallow air, forcefully exhale, and have increase choking due to excessive saliva. The breathing problems are primarily in the day, when the child is awake, and the muscles are more tense. Irritability Children can experience long periods of agitation; this usually occurs when the child is older. The child may also have long periods or crying or screaming, for no apparent reason.
Children with less severe symptoms do not experience the long bouts of irritability.
Physical Symptoms Children with Rett Syndrome are prone to having a seizure disorder, this may last for a short duration, or the lifespan. Scoliosis is also a common symptom, the typical onset is between eight and eleven years old, some child required surgery if the scoliosis is severe.
Children and adults with Rett Syndrome often develop an irregular heartbeat, and this condition can be life threating, and often causes death. Pain plays a large role in the everyday life of a person with Rett syndrome. The sad part is that many children cannot communicate the type of pain, how bad is the pain. The parents or caregivers have to watch the child for the tiniest of clues that the child is experiencing pain. (Disorders, 2015)
Stages of Onset The stages begin at different times in the child’s life, and symptoms will appear, or currant symptoms may decrease.
Stage I: early onset, the signs are subtle and may begin between the ages of six months to eight- teen months. The common signs in this stage is loss of eye contact and delays in crawling or walking. Stage II: Rapid destruction, starting between the age of one and four years old, the child loses the previous skills, this may occur gradually or rapidly. The most common symptoms in this stage is slowed head growth, slowed hand movements, and loss of coordination.
Stage III: plateau, this stage can occur during the ages of two to ten years old. The currant physical problems will continue, but the behavior problems, such as; screaming, crying, and hyperventilating will improve.
Stage IV: late motor deterioration, this stage usually begins after the age ten, and can last throughout the child’s life time. The communication skills and hand movements usually have a slight improvement, but the muscles grow weaker, and pain often increases due to the spasms, and rigidly of the muscles. (Clinic, 2015)
Diagnosis
During the baby’s routine checkups, the doctors always take measurements of the head, chest, height and weight. Doctors will then conduct a more in-depth exam to determine if there are any neurological or motor deficits. The pediatrician should refer the child to a pediatric neurologist. There are other many other conditions that cause some of the same symptoms, such as; autism, cerebral palsy, and other genetic disorders. An exact diagnosis can be made through a blood test to identify the mutation of the MECP2 gene. (Dr, 2016)
Treatments and Therapies There is no cure for Rett Syndrome, but there is a wide range of treatments to aid in the quality of the child’s life. The different treatment usually works best when used in conjunction of each other.
Medical Care, specialists are need to monitor the physical changes, like scoliosis.
Medication can be given to control some of the symptoms, muscle pain, seizures, irregular heartbeat and gastric issue.
Physical therapy and the use of braces, can improve the child’s movement and pain level.
Physical therapy will help improve the child’s balance, and flexibility. A therapist will often recommend certain devices to help keep the child active and mobile.
Occupational therapy, can improve the fine motor function of the hands, this will aid the child in areas of eating, dressing self and playing.
Speech and language therapy, we help the child communicate verbally and non-verbally.
Communication skills will aid the child ability to socially interact.
Behavioral therapy will be beneficial especially as the child get older, the therapy will promote good habit and sleep patterns.
Academic services will aid in the child education, and help provide the services and accommodations the child may need to learn; at the education level they are on.
There is a variety of alternative therapies, that will help the child physical condition, and the mental wellbeing as well. Music therapy, animal assisted therapy has done wonders for
many children, and promotes interaction. The most common animal used in therapy is dogs, and horses. These therapies are not often sought out at first, but once the families learn about the amazing benefits, of music, hydrotherapy, and animal therapy, they gladly participate, and see the wonderful outcomes. (Hanks, 2005)
Cause
Rett syndrome is a genetic disorder, that randomly occurs and is not generally inherited.
There have been a few rare cases of the disorder being inherited. The cause is a mutation of the
MECP2 (methyl CpG binding protein 2) gene that is located in the X chromosome. Scientist are still researching how the mutation occurs. The MECP2 gene is responsible for the synthesis of the protein called methyl cytosine binding protein, which is crucial for the development of the brain. (Zangari, 2014)
Life Expectancy Many girls live to adulthood, and require round the clock care. The women who survive to the age thirty-five have a seventy percent survival rate if they have limited intellectual disabilities. If a woman with Retts has severe intellectual disabilities, the survival rate drops to twenty-seven percent at the age of thirty-five.
Males that are born with Retts syndrome, usually die within a few hours from birth. Males only have one X chromosome, where females have two X chromosomes, and the second strand compensates for the mutated X chromosome. (Leonard, 2006)
Research
This a relatively new diagnosed syndrome that is very rare. There are different organization that are working together to understand the mutation and how it occurs.
Researchers are trying to isolate other genes that are involved in Rett syndrome. Research is also in progress for better treatments, unfortunately research for a cure cannot begin until the mutation is fully understood. (Zoghbi, 2007)
Support Groups for Families There are many support groups for the girls and their families. The groups are non- profit, and the main goal is to offer support for the girls and the families, raise money for research, and awareness education. Support groups are a great source for information about doctors, currant medication, therapies. Rett syndrome is a devastating diseases, and no one can know how you feel, except someone who has or currently is walking in your shoes, the friendships made through support groups are therapeutic itself. (McDonald, 2010)
Case Study A case study was conducted over an eight-teen month period, involving a four-year-old little girl with Rett Syndrome. The child had severe mental and physical deficits. A systematic program was provided in preschool, using toys, switches, and music. The data showed that the child did respond to the environment and stimulus around her. The studied also showed the child’s hand coordination improved along with communication responses.
The study was performed by Margaret Sullivan at the Institute for the Study of Child
Development. (Sullivan, 1994)
Conclusion
Rett Syndrome is a neurological genetic syndrome, that primarily affect girls. This syndrome is caused by a mutation of the MECP2 gene. The children with Retts lose muscle control, their ability to communicate well, and endure a great deal of pain. There are many other medical issues that coincide with the syndrome. Many of these children experience heart, gastric, seizures, and many others. The families of these children have a life long struggle.
Research is currently working to better understand the mutation and hopefully one day a cure can be found to make this rare neurological disorder distinct.
Rett syndrome is very rare neurological disorder that affects the brain. The disorder primarily effects girls only, but there has been reported cases of males with the disorder. The disorder is rare, it effects one in every 10,000 to 15,000 females, in all racial and ethnic groups.
Rett syndrome effect one in every 100,000 males. Rett Syndrome impairs the child’s speech, motor functions, daily activities, and respiratory functions. Rett Syndrome is usually diagnosed in the first two years of life. Rett Syndrome is caused by a mutation in a gene. There is currently no cure for the syndrome, but there are treatments and therapy that can aid the child and her family.
What is Rett Syndrome Rett Syndrome is a …show more content…
rare genetic neurological and developmental disorder. The brain does not develop correctly and the child’s ability to use her muscles will progressively get worse. The muscles of the respiratory are also affected. The children develop severe apraxia.
The children with Rett Syndrome appear to develop normally and meet babies first milestones, until the age of six months.
The skills they previous had, will begin to decrease. The common areas that are affected are the child’s ability to crawl, walk, talk, and use her hands. Rett syndrome can also cause seizures, and hinder the child’s intellectual ability. (Zoghbi, 2007) As the child grows, they will continue to loss muscle control, coordination, and communication skills. Rett Syndrome was identified by Dr. Andreas Rett, in 1966, but truly recognized as a syndrome until 1983. (Fields, 2015) Symptoms Babies with Rett syndrome are born, without any complications, and will develop normally until six months of age. The parent may notice a slow decline in the child’s progress.
The physical change will begin on examination, the baby’s head will measure smaller for the child’s age, as the child grows, usually after the age two, the delayed growth in other body part will become noticeable.
Loss of Movement The child will normally experience loss of control in their hands first. The child will not be able to grasp objects, or hold a parent finger as they pervious did. The child will then slowly lose the ability to crawl or walk steadily, and with time they may lose the ability to walk at …show more content…
all.
There are different severities of the syndrome, and not every child will experience the same symptoms and severity. The child may experience muscle spasms and muscle rigidly. The spasticity and rigidly can be very painful for the child. (Fields, 2015)
Loss of Communication The children with Rett Syndrome often lose their ability to talk, the onset is usually very fast. The child also loses the ability to express themselves with facial movements and expression with their eyes. The loose of communication often depresses a child to the point that they become withdrawn, and will interest in objects they once enjoyed. The total loss of communication is usually temporary, with therapy, the child could regain some verbal communication, facial movements, and other non-verbal communicating skills. Augmentative or alternative communication, (AAC) uses a variety of communication methods. The different methods will change and grow with the child. (Zangari, 2014) It is very important to keep the child engaged and encourage verbal and nonverbal communication.
Abnormal Hand Movements The child often experiences repetitive, or purposeless hand movements. The common hand movements are: hand wringing, squeezing, clapping, tapping, or rubbing. The child my experience one of the movements or a variety of them, it depends on the severity of symptoms’ the child experiences.
Unusual Eye Movements A child with Rett syndrome may have long periods of staring, blinking, or keeping one eye closed at a time. The muscles around the become weak, with therapy the muscles can regain some strength. Rett syndrome does not affect the child’s vision.
Breathing Problems Children with Rett Syndrome often develop abnormal breathing problems. The child may swallow air, forcefully exhale, and have increase choking due to excessive saliva. The breathing problems are primarily in the day, when the child is awake, and the muscles are more tense. Irritability Children can experience long periods of agitation; this usually occurs when the child is older. The child may also have long periods or crying or screaming, for no apparent reason.
Children with less severe symptoms do not experience the long bouts of irritability.
Physical Symptoms Children with Rett Syndrome are prone to having a seizure disorder, this may last for a short duration, or the lifespan. Scoliosis is also a common symptom, the typical onset is between eight and eleven years old, some child required surgery if the scoliosis is severe.
Children and adults with Rett Syndrome often develop an irregular heartbeat, and this condition can be life threating, and often causes death. Pain plays a large role in the everyday life of a person with Rett syndrome. The sad part is that many children cannot communicate the type of pain, how bad is the pain. The parents or caregivers have to watch the child for the tiniest of clues that the child is experiencing pain. (Disorders, 2015)
Stages of Onset The stages begin at different times in the child’s life, and symptoms will appear, or currant symptoms may decrease.
Stage I: early onset, the signs are subtle and may begin between the ages of six months to eight- teen months. The common signs in this stage is loss of eye contact and delays in crawling or walking. Stage II: Rapid destruction, starting between the age of one and four years old, the child loses the previous skills, this may occur gradually or rapidly. The most common symptoms in this stage is slowed head growth, slowed hand movements, and loss of coordination.
Stage III: plateau, this stage can occur during the ages of two to ten years old. The currant physical problems will continue, but the behavior problems, such as; screaming, crying, and hyperventilating will improve.
Stage IV: late motor deterioration, this stage usually begins after the age ten, and can last throughout the child’s life time. The communication skills and hand movements usually have a slight improvement, but the muscles grow weaker, and pain often increases due to the spasms, and rigidly of the muscles. (Clinic, 2015)
Diagnosis
During the baby’s routine checkups, the doctors always take measurements of the head, chest, height and weight. Doctors will then conduct a more in-depth exam to determine if there are any neurological or motor deficits. The pediatrician should refer the child to a pediatric neurologist. There are other many other conditions that cause some of the same symptoms, such as; autism, cerebral palsy, and other genetic disorders. An exact diagnosis can be made through a blood test to identify the mutation of the MECP2 gene. (Dr, 2016)
Treatments and Therapies There is no cure for Rett Syndrome, but there is a wide range of treatments to aid in the quality of the child’s life. The different treatment usually works best when used in conjunction of each other.
Medical Care, specialists are need to monitor the physical changes, like scoliosis.
Medication can be given to control some of the symptoms, muscle pain, seizures, irregular heartbeat and gastric issue.
Physical therapy and the use of braces, can improve the child’s movement and pain level.
Physical therapy will help improve the child’s balance, and flexibility. A therapist will often recommend certain devices to help keep the child active and mobile.
Occupational therapy, can improve the fine motor function of the hands, this will aid the child in areas of eating, dressing self and playing.
Speech and language therapy, we help the child communicate verbally and non-verbally.
Communication skills will aid the child ability to socially interact.
Behavioral therapy will be beneficial especially as the child get older, the therapy will promote good habit and sleep patterns.
Academic services will aid in the child education, and help provide the services and accommodations the child may need to learn; at the education level they are on.
There is a variety of alternative therapies, that will help the child physical condition, and the mental wellbeing as well. Music therapy, animal assisted therapy has done wonders for
many children, and promotes interaction. The most common animal used in therapy is dogs, and horses. These therapies are not often sought out at first, but once the families learn about the amazing benefits, of music, hydrotherapy, and animal therapy, they gladly participate, and see the wonderful outcomes. (Hanks, 2005)
Cause
Rett syndrome is a genetic disorder, that randomly occurs and is not generally inherited.
There have been a few rare cases of the disorder being inherited. The cause is a mutation of the
MECP2 (methyl CpG binding protein 2) gene that is located in the X chromosome. Scientist are still researching how the mutation occurs. The MECP2 gene is responsible for the synthesis of the protein called methyl cytosine binding protein, which is crucial for the development of the brain. (Zangari, 2014)
Life Expectancy Many girls live to adulthood, and require round the clock care. The women who survive to the age thirty-five have a seventy percent survival rate if they have limited intellectual disabilities. If a woman with Retts has severe intellectual disabilities, the survival rate drops to twenty-seven percent at the age of thirty-five.
Males that are born with Retts syndrome, usually die within a few hours from birth. Males only have one X chromosome, where females have two X chromosomes, and the second strand compensates for the mutated X chromosome. (Leonard, 2006)
Research
This a relatively new diagnosed syndrome that is very rare. There are different organization that are working together to understand the mutation and how it occurs.
Researchers are trying to isolate other genes that are involved in Rett syndrome. Research is also in progress for better treatments, unfortunately research for a cure cannot begin until the mutation is fully understood. (Zoghbi, 2007)
Support Groups for Families There are many support groups for the girls and their families. The groups are non- profit, and the main goal is to offer support for the girls and the families, raise money for research, and awareness education. Support groups are a great source for information about doctors, currant medication, therapies. Rett syndrome is a devastating diseases, and no one can know how you feel, except someone who has or currently is walking in your shoes, the friendships made through support groups are therapeutic itself. (McDonald, 2010)
Case Study A case study was conducted over an eight-teen month period, involving a four-year-old little girl with Rett Syndrome. The child had severe mental and physical deficits. A systematic program was provided in preschool, using toys, switches, and music. The data showed that the child did respond to the environment and stimulus around her. The studied also showed the child’s hand coordination improved along with communication responses.
The study was performed by Margaret Sullivan at the Institute for the Study of Child
Development. (Sullivan, 1994)
Conclusion
Rett Syndrome is a neurological genetic syndrome, that primarily affect girls. This syndrome is caused by a mutation of the MECP2 gene. The children with Retts lose muscle control, their ability to communicate well, and endure a great deal of pain. There are many other medical issues that coincide with the syndrome. Many of these children experience heart, gastric, seizures, and many others. The families of these children have a life long struggle.
Research is currently working to better understand the mutation and hopefully one day a cure can be found to make this rare neurological disorder distinct.