RETT SYNDROME

Rett syndrome is a rare inherited neurological and developmental illness that disrupts the brain’s development, resulting in progressive movement and verbal impairment. Mostly, this condition affects girls.

Many babies with Rett syndrome appear to develop appropriately for the first 6 to 18 months of their lives, then lose skills like crawling, walking, communicating, and using their hands. Furthermore, children with this condition develop issues in using muscles that control movement, coordination, and communication throughout time.

SYMPTOMS

Rett syndrome babies are usually born following the normal pregnancy and birth. For the first six months, most newborns with Rett syndrome appear to grow but also behave normally. Signs and symptoms begin to occur after then. However, the intensity of these symptoms varies widely from child to child.

Among the signs and symptoms of Rett syndrome are:

  • Sleep disturbances
  • Seizures
  • Irregular heartbeat
  • Cognitive disabilities
  • Abnormal curvature of the spine 
  • Slowed growth
  • Irritability and crying
  • Unusual eye movements
  • Breathing issues
  • Loss of communication skills
  • Abnormal hand movements
  • Loss of normal coordination and movement

DIAGNOSIS

Careful examination and diagnosis are made to detect Rett syndrome. The things being observed to those children with this condition are family history, development, and growth of the child. When there is a slowing of head growth or a loss of abilities or developmental milestones, the diagnosis is frequently explored.

Since Rett syndrome is so uncommon, your kid may undergo tests to see if other illnesses produce most of the same symptoms. These are some of the conditions:

  • Autism
  • Brain damage before birth (prenatal)
  • Problems in some areas like vision and hearing. 
  • Metabolic disorders, such as phenylketonuria (PKU)
  • Cerebral palsy
  • Other genetic disorders
  • Brain disorders caused by trauma or infection
  • Disorders that cause the brain or body to break down 

Depending on the signs and symptoms that your kid is experiencing, the tests that your child need will be decided. It is possible to do the following tests:

  • Genetic testing
  • Brain activity tests 
  • Eye and vision exams
  • MRI or CT Scans
  • Hearing tests
  • Urine tests
  • Blood tests

TREATMENT

Although there is no solution to Rett syndrome, treatments focus on alleviating symptoms and giving assistance, which may increase the patient’s ability to move, communicate, and interact socially. Treatment and assistance are frequently required throughout a child’s life, not only when they are older. 

Treatments for adults and children may include:

  • Support services
  • Nutritional support
  • Behavioral intervention
  • Regular medical care
  • Speech-language therapy
  • Medications
  • Physical therapy
  • Occupational therapy

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