Photo from stuff.co.nz
Rett syndrome is a rare inherited neurological and developmental illness that affects the development of the brain. This illness causes progressive loss of motor and linguistic skills. Females are disproportionately affected by Rett syndrome.
For the first six months of life, most newborns with Rett syndrome appear to develop normally. These babies then lose previously acquired skills, such as the capacity to crawl, walk, communicate, or use their hands.
Children with Rett syndrome gradually develop difficulties with the use of muscles that control movement, coordination, and communication. Seizures and intellectual problems can also result from Rett syndrome. Unusual hand gestures, such as rubbing or clapping, have taken the role of purposeful hand use.
Although there is currently no cure for Rett syndrome, potential treatments are being investigated. Treatment currently focuses on increasing movement and speech, controlling seizures, and caring for and supporting children and adults with Rett syndrome and their families.
WHAT ARE THE STAGES OF RETT SYNDROME?
Rett syndrome is often classified into four stages:
Stage 1: Early manifestation. During the first stage, which begins between the ages of 6 and 18 months, signs and symptoms are modest and easily disregarded. Stage 1 can last from months to a year. Babies at this age may make less eye contact and lose interest in toys. They may also experience delays in sitting and crawling.
Stage 2: Rapid degeneration Children lose the ability to perform previously acquired skills between the ages of one and four. This loss might be sudden or gradual, lasting weeks or months. Rett syndrome symptoms include decreased head growth, odd hand movements, hyperventilating, shouting, or crying for no apparent cause, movement and coordination issues, and a loss of social contact and communication.
Stage 3: Plateau. The third stage often begins between the ages of 2 and 10 years and can extend for several years. Although movement issues persist, behavior may improve modestly, with less crying and irritation, and there may be some improvement in hand use and communication. Seizures can start at this age, but they rarely happen before the age of two.
Stage 4: Late motor deterioration. This stage typically begins at the age of ten and can endure for years or decades. It is distinguished by decreased mobility, muscle weakness, joint contractures, and scoliosis. Seizures may occur less frequently if understanding, communication, and hand abilities remain stable or improve modestly.
WHAT ARE THE SYMPTOMS OF RETTS DISEASE?
Babies with Rett syndrome are typically born after a straightforward pregnancy and delivery. For the first six months, most newborns with Rett syndrome appear to grow and behave normally. Following then, signs and symptoms begin to emerge.
The most noticeable changes usually occur between the ages of 12 and 18 months, over a period of weeks or months. The intensity of symptoms varies widely from child to child.
The following are the primary signs and symptoms:
- Slowed growth: After birth, brain development slows. Microcephaly (smaller-than-normal head size) is sometimes the first symptom that a child has Rett syndrome. Other portions of the body grow more slowly as youngsters get older.
- Loss of mobility and coordination ability: The earliest indicators are often decreased hand control and an inability to crawl or walk. This loss of ability begins abruptly and then progresses more gradually. Muscles eventually become weak or rigid, resulting in odd movement and placement.
- Loss of communication abilities: Rett syndrome causes children to lose their capacity to speak, make eye contact, and communicate in other ways. They may lose interest in other people, toys, and their environment. Some children experience abrupt changes, such as a loss of language. Children may eventually restore eye contact and improve nonverbal communication abilities over time.
- Hand movements that are unusual: Children with Rett syndrome typically exhibit repetitive, meaningless hand gestures that vary from child to child. Wringing, squeezing, clapping, tapping, or stroking are all examples of hand movements.
Other symptoms and indicators may include:
- Eye motions that are unusual: Rett syndrome children experience peculiar eye movements, such as intense staring, blinking, crossed eyes, or closing one eye at a time.
- Breathing difficulties: These include holding one's breath, rapid breathing (hyperventilation), blowing out air or saliva, and swallowing air. These issues usually develop during the day. Other breathing problems, such as shallow breathing or brief spells of no breathing (apnea), can occur when sleeping.
- Irritation and crying: As they grow older, children with Rett syndrome may become more anxious and irritable. Crying or screaming fits can occur suddenly and for no apparent reason, and can linger for hours. Some children may suffer worry and fear.
- Seizures: Most persons with Rett syndrome have seizures at some point in their life. There are several forms of seizures that can occur and are accompanied with alterations on an electroencephalogram (EEG).
- Sideways curvature of the spine (scoliosis): Scoliosis is common in people with Rett syndrome. It usually starts between the ages of 8 and 11 and progresses with age. If the curvature is extreme, surgery may be required.
- Intellectual disabilities: Skill loss may be linked to a loss of ability to think, understand, and learn.
- Heartbeat irregularity: For many children and adults with Rett syndrome, this is a life-threatening issue that can lead to abrupt death.
- Disruptions in sleep: Sleep problems can include irregular sleep hours, falling asleep during the day and remaining awake at night, or waking up in the middle of the night sobbing or shouting.
- Other strange behaviors: These may involve, for example, unusual facial expressions and protracted bouts of giggling, hand licking, and hair or clothes clutching.
- Other signs and symptoms: Other symptoms include a lowered pain threshold, small hands and feet that are frequently cold, chewing and swallowing difficulties, bowel function issues, and teeth grinding.
WHAT ARE THE CAUSES OF RETT SYNDROME?
Rett syndrome is an extremely rare genetic condition. Several particular genetic abnormalities cause classic Rett syndrome, as well as several variants (atypical Rett syndrome) with lesser or more severe symptoms (mutations).
Rett syndrome is caused by random genetic mutations, most commonly in the MECP2 gene. This genetic condition is inherited in only a few individuals. The genetic abnormalities appear to cause issues with protein manufacturing, which is essential for brain development. However, the precise cause is still unknown and being researched.
Males with Rett syndrome
Males who have the genetic abnormalities that cause Rett syndrome are affected in terrible ways because they have a different chromosome combination than girls. The majority of them die before or during infancy.
A very tiny percentage of guys have a distinct genetic mutation that causes a less devastating type of Rett illness. These males, like females with Rett syndrome, are likely to live to adulthood, but they are nonetheless at risk of a variety of intellectual and developmental issues.
WHAT ARE THE RISK FACTORS FOR RETT SYNDROME?
Rett syndrome is uncommon. The known genetic mutations that cause the disease are ad hoc, and no risk factors have been discovered. In a very tiny percentage of cases, genetic factors, such as having close relatives with Rett syndrome, may play a role.
WHAT ARE THE COMPLICATIONS OF RETT SYNDROME?
Rett syndrome complications include:
Sleep issues that cause considerable sleep disruption for the Rett syndrome patient and family members.
Difficulty eating, resulting in inadequate nutrition and delayed growth.
Constipation, gastroesophageal reflux disease (GERD), bowel or urine incontinence, and gallbladder disease are all examples of bowel and bladder issues.
Pain that can occur as a result of disorders such as gastrointestinal troubles or bone fractures.
Muscle, bone, and joint issues
Anxiety and problematic conduct can impair social functioning.
Needing lifetime care and help with daily tasks
Shortened life span. Although most persons with Rett syndrome live into adulthood, due to cardiac difficulties and other health complications, they may not live as long as the average person.
HOW IS RETT SYNDROME DIAGNOSED?
Rett syndrome is diagnosed by carefully observing your child's growth and development and answering questions about medical and family history. When there is a slowing of head growth or a loss of abilities or developmental milestones, the diagnosis is frequently investigated.
Other illnesses with comparable symptoms must be ruled out before a Rett syndrome diagnosis may be made.
Examining other possible causes of the symptoms
Because Rett syndrome is uncommon, your child may undergo tests to see if other disorders are causing some of the same symptoms as Rett syndrome. Among these conditions are:
- Other genetic disorders
- Autism spectrum disorder (ASD)
- Cerebral palsy
- Traumatic or infectious brain diseases
- Prenatal brain injury (prenatal)
- Hearing or vision issues
- Phenylketonuria (PKU) and other metabolic diseases
- Disorders that cause the brain or the body to malfunction (degenerative disorders)
What tests your child requires is determined by individual indications and symptoms. Among the possible tests are:
Blood tests
Urine tests
Imaging tests like magnetic resonance imaging (MRI) or computerized tomography (CT) scans
Hearing tests
Eye and vision exams
Brain activity tests (electroencephalograms, also called EEGs)
Core symptoms
Classic Rett syndrome is defined by the following basic symptoms, which can appear between the ages of 6 and 18 months:
- Total or partial loss of purposeful hand skills
- Language loss, either partial or total
- Walking issues, such as difficulty walking or inability to walk
- Hand wringing, squeezing, clapping, or tapping, placing hands in mouth, or washing and rubbing movements are examples of repetitive purposeless hand movements.
Additional symptoms associated with Rett syndrome can help confirm the diagnosis.
Although the guidelines for diagnosing atypical Rett syndrome differ slightly, the symptoms are the same, with varied degrees of severity.
Genetic testing
If your child's doctor suspects Rett syndrome during an evaluation, genetic testing (DNA analysis) may be required to confirm the diagnosis. A little amount of blood is drawn from a vein in your child's arm for the test. The blood is then transported to a lab, where the DNA is studied for information regarding the disorder's cause and severity. The diagnosis is confirmed by testing for alterations in the MEPC2 gene. Genetic counseling can assist you in understanding gene changes and their consequences.
WHAT ARE THE TREATMENTS FOR RETT SYNDROME?
Although there is no cure for Rett syndrome, treatments can help to alleviate symptoms and give emotional support. These may increase the possibility of movement, communication, and social participation. Treatment and assistance are frequently required throughout a child's life, not only when they are older. Rett syndrome treatment necessitates collaboration.
Treatments for Rett syndrome in children and adults include:
- Regular medical care: A multispecialty team may be required to manage symptoms and health problems. Physical changes like as scoliosis, gastrointestinal (GI) disorders, and cardiac problems must be monitored on a regular basis.
- Medications: Though drugs cannot cure Rett syndrome, they can help reduce some of the disorder's signs and symptoms. Seizures, muscle stiffness, or issues with breathing, sleep, the GI tract, or the heart may benefit from medication.
- Physical therapy: Children with scoliosis or who require hand or joint assistance can benefit from physical therapy and the use of braces or casts. Physical therapy can also help to retain movement, produce a proper sitting position, and enhance walking skills, balance, and flexibility in some circumstances. A walker or wheelchair, for example, could be useful.
- Nutritional support: Proper nutrition is critical for healthy growth as well as better mental, physical, and social capacities. A high-calorie, well-balanced diet might be advised. Feeding practices to avoid choking or vomiting are critical. Some toddlers and adults may require feeding via a tube inserted directly into the stomach (gastrostomy).
- Behavioral intervention: Sleep disorders may benefit from practicing and adopting appropriate sleep habits. Therapies may aid in the improvement of problematic habits.
- Occupational therapy: Occupational therapy can help people use their hands more purposefully for things like dressing and feeding. Splints that restrict elbow or wrist motion may be useful if repetitive arm and hand movements are a concern.
- Speech and language therapy: Speech-language therapy can aid a child's life by teaching nonverbal communication skills and assisting with social interaction.
- Support services: Early intervention programs, as well as school, social, and job-training services, may aid in the integration of students into school, employment, and social activities. Participation may be possible with special adjustments.
HOW CAN RETT SYNDROME BE PREVENTED?
There is currently no known technique to avoid Rett syndrome. In most cases, the genetic mutations that cause the illness happen on their own. Even so, if you have a kid or another family member with Rett syndrome, you should talk to your doctor about genetic testing and genetic counseling.