Rett Syndrome | Rett Syndrome Symptoms And Treatment

Rett Syndrome

Rett syndrome is a neurological and developmental disorder that occurs in females.

There are abnormal sleep patterns and sleep disturbances in a person suffering with rett syndrome.

Infants with rett syndrome grow and develop normally at first, but then stop developing and even lose skills and abilities.

Rett syndrome is a genetic disorder. It is caused by faulty or mutated gene, but not limited to the X chromosome.

Rett syndrome symptoms:

  • Loss of hand movements such as grasping with fingers, reaching for things or touching things.
  • Problems with sleep, specifically disrupted sleep patterns at night and increase in total and daytime sleep.
  • Cardiac or heart problems such as problem with rhythm of heart beat.
  • Seizures
  • Constipation
  • Loss of speech
  • Balance and coordination problem including ability to walk
  • Breathing problems such as hyperventilation, breath holding or apnea
  • Breathing problems become worse with stress
  • Anxiety and social behavioral problems
  • Intellectual disability
  • Several language development problems
  • Shaky, unsteady toe walking
  • Poor circulation that can lead to cold and bluish arms and legs

Child’s development will be normal in the beginning, but it will become abnormal suddenly. Prenatal and perinatal development appears normal. The head circumference is normal at birth. Psychomotor development appears to be normal until six months old.

After the normal development period, head growth becomes abnormal between 5 and 48 months. The child loses already acquired hand movements between 5 to 30 months. The child also loses interest in social environment. Trunk movements are poorly coordinated.

Women with rett syndrome are incapable of living independently and require constant care throughout their lives. Girls with rett syndrome have trouble with the physical mechanics of eating, so they often are shorter and weigh less than other children of their age.

Some girls are fed through tubes into their stomachs to maintain proper nutrition.

Rett syndrome treatment:

There is no cure for rett syndrome but treatment options are there. Treatment is concentrated on relief of symptoms, compensation of disabilities and for good quality of life. Physical therapy includes improving mobility, balance, and reduces deformed back and limbs.

Occupational therapy includes improving the use of hands and reducing stereotypic hand movements. Speech language therapy includes helping patients use non-verbal ways of communication and improve social interaction.

Getting enough nutrients and maintaining an adequate weight result in improved growth, interaction and attentiveness.

Coping with rett syndrome:

Children with rett syndrome need help with daily tasks such as walking, eating and toileting. The families may feel stressful and exhausting by this constant care. Many families facing problem with rett syndrome take help from outside caregivers so that they can have a break.

If your child has rett syndrome, you have to learn everything about the disorder and seek support from health care provider, family and community to help your child cope with the syndrome.

If the syndrome is controlled, you can have normal sleep patterns and there will be less or no sleep disturbances.

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