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Innovation and Research

Gillette’s Focused Rett Syndrome Research Earns National Attention

Family of three sit on a bench with daughter in the middle

Gillette Children’s is one of just 14 U.S. hospitals designated as a Clinical Research Center of Excellence by the Rett Syndrome Foundation. Gillette clinical research in Rett syndrome promotes the highest standards of care and partners with the University of Minnesota to provide evidence-based medicine.  

To qualify as a Center of Excellence, clinics had to demonstrate how they met the following requirements established by IRSF’s Medical Advisory Board: 

A physician director with expertise in Rett syndrome care 

  • Health care services that meet the unique needs of individuals with Rett 
  • Involvement in clinical trials 
  • Increase understanding of Rett syndrome by contributing to a clinical registry 

What is Rett Syndrome? 

Rett syndrome is a rare neurodevelopmental disorder that affects the brain and developmental growth. It is caused by a gene mutation on the X chromosome. This mutation causes the brain to either make too little of an essential protein or make damaged protein that the body cannot use. Without this essential protein, the brain cannot develop normally. Although males can, in rare cases, have Rett syndrome, females are more likely to have Rett. Symptoms of Rett syndrome begin in childhood and affect areas such as muscle growth, walking and communication. In the early stages of Rett syndrome, infants usually have no symptoms during the first 6-12 months of life. At around 18 months development slows or stalls and children's stop gaining developmental skill, they might even lose skills they had achieved.  

Common Rett syndrome symptoms at early stage include:  

  • Difficulty crawling or walking 
  • Loss of, or decline in speech skills 
  • Loss of eye contact or visual interaction 
  • Seizures 

Experts believe the behavioral challenges linked to Rett syndrome might result from communication difficulties or an altered sensory system. 

Because of its symptoms, Rett syndrome often gets mistaken for autism, cerebral palsy or a developmental delay. And because signs of slowed head and brain growth can be subtle, Rett syndrome might go unnoticed until other delays become obvious. However, seizures and movements problems are common. Due to their immobility and muscle weakness, joint deformities and scoliosis might also arise. Because of this many children remain at this stage of their lives.  

At the later stages of Rett syndrome when the children enter their early teenage years the effects of Rett syndrome usually slows down. Their behavior might improve, alertness and attention span and nonverbal communication might also improve.  

Mother and daughter on bridge

Rett Syndrome Research 

The goals of Rett syndrome research at Gillette are to: 

  • Inform optimal clinical management of patients who have Rett syndrome. 
  • Develop reliable, sensitive outcome measures for clinical trials. 

Rett syndrome is often associated with involuntary dysfunction such as hyperventilation, breath holding, or cold hands and feet. Gillette’s goal is to improve scientific understanding of Rett syndrome. Specific goals include improving assessment by using non-invasive methods to measure the nervous system functions.  

Ongoing Studies Involving Involuntary Functions: 

  • Infrared thermal analysis and autonomic function in Rett syndrome. 
  • Characterization of diurnal salivary cortisol in Rett syndrome. 
  • Assessing sleep patterns in Rett syndrome. 

Repeated measures assessment of the stability of physiological biomarkers in Rett syndrome including heart rate, breathing, and temperature of the hands and feet. 

 Ongoing Studies Involving Pain Experience and Sensory Function: 

  • Characterizing pain experience and somatosensory function in Rett syndrome. 
  • Evaluating peripheral epidermal nerve fiber density in Rett syndrome. 
  • Assessing the function of pain pathways in Rett syndrome via heat-evoked potentials. 
  • Documenting inflammatory and anti-inflammatory biomarkers in the saliva of individuals with Rett syndrome. 

With continued research at Gillette, our center of excellence pledges to provide outstanding care for children and adults with Rett syndrome for current and future generations. 

Rett Care at Gillette Children’s 

If your child lives with the effects of Rett Syndrome, they will need the best support, including a team of experts who understand this complex condition. Our depth of Rett research means your care team at Gillette offers the latest knowledge and recommendations for providing Rett care. Gillette’s goal is to give your child an opportunity to live a life defined by their dreams, not their diagnosis.  

 

Our care teams at Gillette organize treatment programs around the complex conditions that accompany Rett syndrome. Meaning at every stage you and your child will work with internationally recognized experts in a family-centered environment. When choosing Gillette, you have access to:  

One of the region’s largest teams of complex pediatrics, pediatric rehabilitation medicine specialists, pediatric orthopedics, neurologists and neurosurgeons. 

Our close collaboration with groups such as the International Rett Syndrome Foundation and the Midwest Rett Syndrome Research Association. 

One of just 14 U.S. hospitals designated a Clinical Research Center of Excellence by the Rett Syndrome Foundation. 

Typically, girls and women who have Rett syndrome needs primary care services. Health care providers at Gillette work with primary care doctors and gynecologists in the community to meet the head-to-toe health care needs of children and teens who have Rett syndrome.  

With continued research at Gillette, our center of excellence pledges to provide outstanding care for children and adults with Rett syndrome for current and future generations. 

family of three walking on side walk pushing daughter in wheelchair