Rett Syndrome

Overview

Rett syndrome is a rare genetic disorder impacting neurological and developmental processes, notably affecting brain development. It leads to a gradual loss of motor skills and language abilities over time. Rett syndrome predominantly observed in females.

Typically, infants with Rett syndrome show normal development in the first six months of life. However, they later experience regression, losing previously acquired skills such as crawling, walking, talking, and using their hands.

As Rett syndrome progresses, affected children face increasing difficulties with movement, coordination, and communication. Seizures and intellectual disabilities may also develop. Purposeful hand movements are often replaced by repetitive actions like rubbing or clapping.

Although there is currently no cure for Rett syndrome, ongoing research focuses on potential treatments. Current interventions aim to improve movement and communication, manage seizures, and provide comprehensive care and support to individuals with Rett syndrome and their families.

Symptoms

Rett syndrome typically manifests in babies who have undergone a pregnancy and delivery without complications. During the initial six months of life, most infants with Rett syndrome exhibit typical growth and development. However, signs and symptoms begin to emerge thereafter.

The most significant changes usually manifest between 12 to 18 months of age, gradually unfolding over several weeks or months. The symptoms and their intensity can vary significantly from one child to another.

Key signs and symptoms encompass:

• Delayed growth. After birth, brain growth slows down. Sometimes the initial indication of Rett syndrome in a kid is microcephaly, or smaller-than-normal head size. Other bodily parts experience delayed growth as kids get older.
• A reduction in coordination and range of motion. Reduced hand control and a declining ability to crawl or walk are frequently the initial symptoms. This loss of ability happens quickly at first, then more gradually over time. Muscles eventually become weak or rigid, moving and positioned strangely.
• A reduction in communication skills. Rett syndrome sufferers often start to lose their capacity to make eye contact, speak, and use other forms of communication. They might start to lose interest in toys, other people, and their environment. Some kids go through fast transitions, including an abrupt language loss. Children may eventually be able to make eye contact again and learn nonverbal communication techniques.
• Abnormal hand gestures. Rett syndrome patients typically exhibit varying degrees of purposeless, repetitive hand movements. Hand gestures can include stroking, tapping, clapping, wringing, and squeezing.

Some manifestations may be:

• Distinctive eye motions. Rett syndrome children frequently exhibit strange eye movements, like intense staring, blinking, crossing their eyes, or closing one eye at a time.
• Breathing issues. These include breathing too quickly (hyperventilation), breath holding, blowing out one’s mouthful of air or saliva, and swallowing air. These issues typically come up during the day. Other breathing irregularities that can happen while you sleep include apnea and shallow breathing.
• Crying and being irritable. As they age, children with Rett syndrome may exhibit increased levels of agitation and irritability. Crying or yelling fits can strike out of nowhere and continue for hours at a time. Some kids could feel anxious and afraid.
• Extraordinary actions. These could be sudden, strange facial expressions, prolonged laughter fits, licking one’s hands, or gripping one’s hair or clothes.
• Intellectual disabilities. Loss of cognition, comprehension, and learning capacity may be linked to skill loss.
• Convulsions. Seizures affect most Rett syndrome sufferers at some point in their lives. Different forms of seizures can happen and are linked to variations in an electroencephalogram (EEG).
• Scoliosis, or the sideways curvature of the spine. A common feature of Rett syndrome is scoliosis. It usually starts between the ages of 8 and 11 and gets worse as people get older. In case of a significant curvature, surgery might be needed.
• Disturbances in sleep. An erratic sleep schedule, falling asleep during the day and waking up at night, or crying or screaming in the middle of the night are all examples of problems with sleep patterns.
• An irregular heartbeat. For many adults and children with Rett syndrome, this is a life-threatening issue that has the potential to cause unexpected death.
• Additional signs and symptoms. Other symptoms include small, typically cold hands and feet, reduced pain sensitivity, difficulty eating and digesting food, bowel function issues, and teeth grinding.

Stages of Rett syndrome

Four stages are usually used to categorize Rett syndrome:

• Stage 1 (early onset). Stage 1 of Rett syndrome typically starts between the ages of six and eighteen months, with signs and symptoms being subtle and easily overlooked. This stage can last for a few months to a year. During this phase, infants may show reduced eye contact and decreased interest in toys. They may also take longer to achieve milestones such as sitting or crawling.
• Stage 2 (rapid deterioration). Between the ages of 1 and 4, children with Rett syndrome start to regress and lose previously acquired skills. This decline can occur rapidly or gradually over weeks or months. Symptoms of Rett syndrome include delayed head growth, unusual hand movements, hyperventilation, unexplained crying or screaming, problems with coordination and movement, and a lack of social interaction and communication.
• Stage 3 (plateau). The third stage of Rett syndrome can last for several years and usually begins between the ages of two and ten. While movement difficulties persist during this stage, there may be some improvement in behavior, such as reduced whining and agitation, as well as enhancements in hand and communication skills. Seizures can also begin during this phase, although they typically do not occur before the age of two.
• Stage 4 (late motor deterioration). This stage can extend for years or even decades and typically begins after the age of ten. It is marked by the development of scoliosis, joint contractures, decreased mobility, and muscle weakness. Seizures may occur less frequently, but understanding, communication, and hand abilities generally remain the same or show slight improvement.

Early on, Rett syndrome symptoms and signs could be mild. If, following what seems to be normal development, you start to discover physical issues or behavioral abnormalities in your child, you should immediately take them to the doctor. Issues or changes could be:

• Slower growth of your child’s head or other body parts
• Delayed language development or loss of prior language abilities
• Decreased coordination or mobility
• Repetitive hand movements
• Decreased eye contact or loss of interest in routine play
• Any obvious loss of previously attained milestones or skills

Causes

Rett syndrome is an uncommon genetic disorder characterized by classic symptoms, along with various variants known as atypical Rett syndrome, which can present with milder or more severe manifestations. These variations arise from specific genetic mutations.

The genetic alterations responsible for Rett syndrome typically occur spontaneously, predominantly within the MECP2 gene. Inheritance of this genetic disorder is rare. The mutations appear to disrupt the production of proteins crucial for brain development. However, the precise cause remains incompletely understood and continues to be under investigation.

Rett syndrome in males

Due to their distinct chromosome combination compared to females, males with the genetic mutations associated with Rett syndrome face severe consequences. The majority of affected males do not survive beyond birth or early infancy. However, a rare subset of males possess a different genetic alteration leading to a less severe manifestation of Rett syndrome. Like their female counterparts, these males may survive into adulthood, yet they remain susceptible to various intellectual and developmental challenges.

Risk factors

Rett syndrome is a rare condition primarily caused by genetic mutations, which occur randomly without any identified risk factors. In a small number of cases, there may be some involvement of inherited factors, such as having close relatives affected by Rett syndrome, although this is extremely uncommon.