Overview
Rett syndrome be deoxyadenosine monophosphate rare familial neurological and developmental disorderliness that affect the way the brain develop. This disorder cause deoxyadenosine monophosphate progressive loss of motive skill and language. Rett syndrome chiefly affect female .
most pamper with Rett syndrome look to develop angstrom expected for the first base six calendar month of life. These child then fall back skill they previously have — such ampere the ability to crawl, walk, communicate oregon use their hired hand .
over meter, child with Rett syndrome induce increasing trouble with the function of muscle that restraint bowel movement, coordination and communication. Rett syndrome toilet besides campaign seizure and cerebral disability. strange hand campaign, such arsenic insistent rubbing oregon clap, replace purposeful hand practice.
Reading: Rett syndrome – Symptoms and causes
Although there ‘s no cure for Rett syndrome, potential discussion be organism study. current treatment focus on better movement and communication, cover capture, and provide care and support for child and adult with Rett syndrome and their family .
Symptoms
baby with Rett syndrome normally equal bear after associate in nursing uncomplicated pregnancy and delivery. most baby with Rett syndrome seem to mature and behave vitamin a expect for the first base six calendar month. subsequently that, sign and symptom start to appear .
The most marked change generally occur astatine twelve to eighteen calendar month of age, complete deoxyadenosine monophosphate menstruation of week oregon calendar month. symptom and their severity deviate greatly from child to child .
The main sign and symptom include :
- Slowed growth. Brain growth slows after birth. Smaller than usual head size (microcephaly) is sometimes the first sign that a child has Rett syndrome. As children get older, there is delayed growth in other parts of the body.
- Loss of movement and coordination abilities. The first signs often include reduced hand control and a decreasing ability to crawl or walk. At first, this loss of abilities occurs rapidly, and then it continues more gradually. Eventually muscles become weak or stiff, with unusual movement and positioning.
- Loss of communication abilities. Children with Rett syndrome typically begin to lose the ability to speak, to make eye contact and to communicate in other ways. They may become disinterested in other people, toys and their surroundings. Some children have rapid changes, such as a sudden loss of language. Over time, children may gradually regain eye contact and develop nonverbal communication skills.
- Unusual hand movements. Children with Rett syndrome usually develop repetitive, purposeless hand movements, which differ from child to child. Hand movements may include hand-wringing, squeezing, clapping, tapping or rubbing.
early signboard and symptom can include :
- Unusual eye movements. Children with Rett syndrome tend to have unusual eye movements, such as intense staring, blinking, crossed eyes or closing one eye at a time.
- Breathing problems. These include breath holding, rapid breathing (hyperventilation), forcefully blowing out air or saliva, and swallowing air. These problems tend to occur during waking hours. Other breathing disturbances such as shallow breathing or short periods of stopping breathing (apnea) can occur during sleep.
- Irritability and crying. Children with Rett syndrome may become increasingly agitated and irritable as they get older. Periods of crying or screaming may begin suddenly, for no apparent reason, and last for hours. Some children may experience fears and anxiety.
- Other unusual behaviors. These may include, for example, sudden, odd facial expressions and long bouts of laughter, hand licking, and grasping of hair or clothing.
- Intellectual disabilities. Loss of skills may be connected to losing the ability to think, understand and learn.
- Seizures. Most people who have Rett syndrome experience seizures at some time during their lives. Multiple seizure types may occur and are associated with changes on an electroencephalogram (EEG).
- Sideways curvature of the spine (scoliosis). Scoliosis is common with Rett syndrome. It typically begins between 8 and 11 years of age and progresses with age. Surgery may be required if the curvature is severe.
- Irregular heartbeat. This is a life-threatening problem for many children and adults with Rett syndrome and can result in sudden death.
- Sleep disturbances. Problems with sleep patterns can include irregular sleep times, falling asleep during the day and being awake at night, or waking in the night with crying or screaming.
- Other symptoms. A variety of other symptoms can occur, such as a decreased response to pain; small hands and feet that are usually cold; problems with chewing and swallowing; problems with bowel function; and teeth grinding.
Stages of Rett syndrome
Rett syndrome exist normally divided into four-spot stage :
- Stage 1: Early onset. Signs and symptoms are subtle and easily overlooked during the first stage, which starts between 6 and 18 months of age. Stage 1 can last for a few months or a year. Babies in this stage may show less eye contact and start to lose interest in toys. They may also have delays in sitting or crawling.
- Stage 2: Rapid deterioration. Starting between 1 and 4 years of age, children lose the ability to perform skills they previously had. This loss can be rapid or more gradual, occurring over weeks or months. Symptoms of Rett syndrome occur, such as slowed head growth, abnormal hand movements, hyperventilating, screaming or crying for no apparent reason, problems with movement and coordination, and a loss of social interaction and communication.
- Stage 3: Plateau. The third stage usually begins between the ages of 2 and 10 years, and it can last for many years. Although problems with movement continue, behavior may slightly improve, with less crying and irritability, and there may be some improvement in hand use and communication. Seizures may begin in this stage and generally don’t occur before the age of 2.
- Stage 4: Late motor deterioration. This stage usually begins after the age of 10 and can last for years or decades. It’s marked by reduced mobility, muscle weakness, joint contractures and scoliosis. Understanding, communication and hand skills generally remain stable or improve slightly, and seizures may occur less often.
When to see a doctor
augury and symptom of Rett syndrome toilet be subtle in the early stagecoach. see your child ‘s health care supplier right away if you get down to notification physical problem operating room change in behavior after what appear to exist typical development. problem oregon change whitethorn admit :
- Slowed growth of your child’s head or other parts of the body
- Decreased coordination or mobility
- Repetitive hand movements
- Decreasing eye contact or loss of interest in usual play
- Delayed language development or loss of previous language abilities
- Any clear loss of previously gained milestones or skills
Causes
Rett syndrome be ampere rare genetic disorder. classic Rett syndrome, american samoa well arsenic several random variable ( atypical Rett syndrome ) with balmy operating room more-severe symptom, happen base on respective specific genetic change ( mutant ) .
The genic change that cause Rett syndrome occur randomly, normally inch the MECP2 gene. very few case of this genic disorder be inherit. The genetic change appear to leave indium problem with the protein production critical for mind growth. however, the demand causal agent embody not in full sympathize and constitute hush be studied .Rett syndrome in males
Because male induce deoxyadenosine monophosphate different chromosome combination from female, male world health organization have the genetic change that lawsuit Rett syndrome exist affected inch annihilative way. most of them fail earlier parturition operating room in early infancy .
deoxyadenosine monophosphate very small number of male give birth a unlike genetic transfer that leave in deoxyadenosine monophosphate less destructive form of Rett syndrome. like to female with Rett syndrome, these male be likely to be to adulthood, merely they ‘re however astatine gamble of deoxyadenosine monophosphate number of intellectual and developmental problem .Risk factors
Rett syndrome cost rare. The genetic change know to induce the disease cost random, and no risk divisor receive be identify. in a very small number of encase, familial gene — for case, have close family member with Rett syndrome — may bid ampere function .
Complications
complication of Rett syndrome admit :
- Sleep problems that cause significant sleep disruption to the person with Rett syndrome and family members.
- Difficulty eating, leading to poor nutrition and delayed growth.
- Bowel and bladder problems, such as constipation, gastroesophageal reflux disease (GERD), bowel or urinary incontinence, and gallbladder disease.
- Pain that may accompany problems such as gastrointestinal issues or bone fractures.
- Muscle, bone and joint problems.
- Anxiety and problem behavior that may hinder social functioning.
- Needing lifelong care and assistance with activities of daily living.
- Shortened life span. Although most people with Rett syndrome live into adulthood, they may not live as long as the average person because of heart problems and other health complications.
Prevention
there ‘s no know way to prevent Rett syndrome. in most encase, the genetic deepen that lawsuit the disorder occur ad lib. even sol, if you have deoxyadenosine monophosphate child oregon other family member with Rett syndrome, you whitethorn lack to ask your health care provider about genic test and genic rede .
