Rett Syndrome Hannah Barrs

What exactly is Rett Syndrome?

Rett Syndrome (RTS) is a neurological disorder that is caused by an X chromosomal mutation that affects speech, muscular movement, behavior, and development in females.

information about rts
  • Rett Syndrome (RTS) is extremely rare, affecting less than 1,000 people in the United States per year.
  • Rett Syndrome has only become an eloquent diagnosis in the last 20-30 years.
  • Rett Syndrome is lifelong and incurable, but treatment is available for management, and patients tend to need assisted living for life. Independent living is rare.
  • Rett Syndrome is also not genetic, despite it being biologically created. Scientists and doctors believe it is a mutation on the X chromosome, but the single gene has yet to be identified.
  • Because it is a mutation on the X chromosome, it is not only more common in females, but it is fatal in males because they only have one X chromosome. Boys rarely live past birth, but the average girl's lifespan is 50-60 years.
This is Kirsty. She is 22 years old and has Rett Syndrome.
The Diagnosis and how it is obtained
  • The most common way parents know something is wrong with their child is through their child's behavior- physical and verbal. Usually parents can tell that something is off with their child in the first four years after birth, but if they don't in the first four years, it becomes very evident when speech and motor movements are used often, as the children starts school.
  • Doctors will start the process of diagnosis by doing a one-on-one consultation with the patient to rule out other possible conditions such as: Autism Spectrum Disorder, cerebral palsy, metabolic disorders, and prenatal brain disorders. If the doctor finds a growth disability or something of concern, then genetic testing MUST be done to determine if the child has Rett Syndrome since it is biological and an X chromosomal disorder.
  • Statistically, doctors can confirm Rett Syndrome in 80 percent of their cases.
This is Holly. She is 15 years old, and has Rett Syndrome. She lost her sight and ability to use her hands and legs due to RTS.
symptoms

Symptoms are as listed:

  • Slowed growth: typically the child exhibits normal growth for the first six months of life, but then slows. The brain grows very slowly, which causes microcephaly- having a head abnormally small.
  • Tense and irritable behavior: this usually occurs from microcephaly. Because the brain is smaller, the hypothalamus- which controls mood, anger, and libido- exhibits unbalanced mood and tense behavior. The smaller brain makes room for chemical imbalances in the brain, like serotonin, which can cause fits of screaming and also fits of laughter.
  • Slowed muscular movements and uncontrollable reflexes: it is common to see patients with Rett Syndrome constantly wring their hands and fidget their thumbs due to their slowed muscle growth. Another common issue from slowed muscle movements is the inability or difficulty to walk.
  • Language deficits and social skills: Rett Syndrome patients exhibit language deficits and can often be mute. Socially, they have extreme anxiety, most likely due to the fact that their brains are smaller, causing biological chemical imbalances. Doctors and parents usually notice this after the child reaches a year old and even all the way up to the age of four.
  • Respiratory issues: breathing difficulties in patients with RTS is common because they have smaller lungs. Having smaller lungs often means that the patient will hyperventilate in activity, causing a shortness of oxygen to the brain and seizures.
  • Blind and deafness: because the brain controls our senses, it is possible that the microcephaly can cause vision and hearing loss. This is less common, but has sadly been evident in many cases.
This is Tilda and Olive. They are both two year-old twins in this image, but Olive is the one with Rett Syndrome because they are fraternal twins.
TREATMENTS
  • Having Rett Syndrome is lifelong and incurable, but can be manageable by medications and therapy.
  • Standard medications like antiepilectic drugs for seizures, sedative-hypnotic drugs to treat sleep disturbances, antidepressants to control anxiety, depression, and mood swings, and nutritional supplements and daily vitamins. Cannabis treatments are new and rare for patients with RTS, but evolving and becoming more common in legal United States.
  • Multiple therapy types are necessary for patients with RTS, such as: physical therapy for walking and hand movements, speech therapy for language development and comprehension, occupational behavior which teaches basic living and work habits like how to feed themselves, and behavioral therapy to aide them with their mood and to teach their strategies in how to manage their emotions, which can be a challenge with most patients.
  • Most parents find it most manageable for their child with Rett Syndrome by hiring an aide that specializes in caring for patients with disorders like RTS and Autism Spectrum Disorder.
  • A balanced and nutritional diet is important to ensure that the patient is receiving all of the necessary and vital vitamins to help them grow properly, since growth is slowed and difficult.
Olive has been losing skills since she was a year old, and can walk using her walker for now, but with RTS, that is tentative. Symptoms that are like cerebral palsy take over, making the patient immobile.
  • Sources used to aide this webpage are as listed:
  • http://www.webmd.com/brain/autism/rett-syndrome#1
  • https://ghr.nlm.nih.gov/condition/rett-syndrome#resources
  • http://www.mayoclinic.org/diseases-conditions/rett-syndrome/basics/definition/con-20028086
Created By
Hannah Barrs
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