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Communication Strategies With Caregivers Following the Diagnosis of Rett Syndrome

  • Authors: Shannon Standridge, DO, MPH
  • CME / CE Released: 11/14/2023
  • Valid for credit through: 11/14/2024, 11:59 PM EST
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  • Credits Available

    Physicians - maximum of 0.25 AMA PRA Category 1 Credit(s)™

    Nurses - 0.25 ANCC Contact Hour(s) (0 contact hours are in the area of pharmacology)

    IPCE - 0.25 Interprofessional Continuing Education (IPCE) credit

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Target Audience and Goal Statement

This activity is intended for neurologists, pediatricians, and other clinicians who treat patients with Rett syndrome.

The goal of this activity is for learners to be better able to communicate with parents regarding the prognosis of Rett syndrome and approach to management following its diagnosis.

Upon completion of this activity, participants will:

  • Have increased knowledge regarding the
    • Nature of ongoing symptoms that clinicians should share with parents after their child is diagnosed with Rett syndrome
  • Have greater competence related to
    • Communicating with parents regarding the development of a comprehensive treatment plan after their child is diagnosed with Rett syndrome
  • Demonstrate greater confidence in their ability to
    • Speak with parents regarding the initial treatment plan for the management of Rett syndrome


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  • Shannon Standridge, DO, MPH

    Professor of Pediatrics and Child Neurology
    University of Cincinnati College of Medicine
    Director, Vinaya Rett Syndrome and Related Spectrum Disorders Clinic
    Cincinnati Children’s Hospital Medical Center
    Cincinnati, Ohio


    Shannon Standridge, DO, MPH, has the following relevant financial relationships:
    Consultant or advisor for: ACADIA Pharmaceuticals Inc.; Zogenix, Inc. (former)
    Speaker or member of speakers bureau for: Greenwich Pharmaceuticals (former)


  • Pakinam Aboulsaoud, PharmD

    Senior Medical Education Director, Medscape, LLC


    Pakinam Aboulsaoud, PharmD, has no relevant financial relationships.

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  • Leigh Schmidt, MSN, RN, CNE, CHCP

    Associate Director, Accreditation and Compliance, Medscape, LLC


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Communication Strategies With Caregivers Following the Diagnosis of Rett Syndrome

Authors: Shannon Standridge, DO, MPHFaculty and Disclosures

CME / CE Released: 11/14/2023

Valid for credit through: 11/14/2024, 11:59 PM EST


Activity Transcript

Julia and Frank, parents of Theresa who is almost 2 years old, are presenting to their daughter’s doctor with concerns of loss of acquired skills, loss of interest in surroundings, and repetitive hand movements.

Dr Park: Hello Julia and Frank. I’m glad you could come in today. I wanted to talk to you more about your concerns you had with your daughter, Theresa.

Julia: Yes, thank you, Dr Park. We wanted to meet with you as quickly as possible to find out what’s going on with Theresa. She’s almost 2 years old, after all.

Doctor Park: Of course. Let’s continue to talk a bit more about your growing concerns since the last time we spoke.

Frank: As we mentioned before at her 12- and 15-month-old visits, when Theresa was just a baby, she seemed fine. She was holding her bottle, rolling over and came to sitting basically on time. But as you know, then she started to slow down and didn’t crawl or feed herself until almost her first birthday. And it seemed like it took a long time for Theresa to say “dada.”

Julia: We noticed that we had to do more for Theresa compared to her older sister when she was that age, and that is why we were discussing it with you. But then after her last 15-month-old checkup, she just stopped doing things. Now Theresa can’t even sit up by herself anymore and she won’t hold her bottle or finger feed herself anymore; Frank and I have to feed her. And we’ve noticed that Theresa is constantly moving her hands. She does it all day long and won’t even stop to play with toys or to try to feed herself. We were hoping things would start to get better, but in the last several days, Theresa doesn’t even appear to notice us or be interested in us anymore.

Frank: Another issue is sleep. Theresa has started crying out in her sleep during the night. It’s awful – she’ll scream for hours and there’s nothing we can do to help calm her down.

Dr Park: I see. When we met last time, I suggested we run some tests to try and pinpoint what might be happening. I have the results, and I think I know more about Theresa’s condition.

Frank and Julia: Ok.

Dr Park: The behaviors you’ve described, and the timing of when they’ve occurred, coupled with the results of the genetic testing, lead me to believe that Theresa has a condition called Rett syndrome. This is a rare genetic disorder that happens almost exclusively in girls. It is caused by a genetic abnormality on the X chromosome in a specific gene called the MECP2 gene.

Julia: But what does that mean? What will happen to Theresa? I mean, she’s so little. And is there a cure for.. what was it called? Rett syndrome?

Dr Park: I’m afraid not, Julia. Her condition may lead to some challenges later on regarding speech, learning, using her hands, mood, and movement. And this is why we will work together to manage Theresa’s symptoms.

Frank: But will she be this way forever? I mean.. will she always have trouble with sleeping, crying, and not be able to do things for herself?

Dr Park: I can tell you that although the condition will cause developmental challenges for Theresa, like the ones she’s having now, we don’t expect that she will continue to lose more and more skills. However, along with the skills she has lost, Theresa is likely to develop other symptoms and medical concerns commonly experienced in Rett syndrome.

Frank: What can we do to help her?

Dr Park: There are options. I know this may be very overwhelming for you both, so let’s talk some more now, and we can make some follow-up appointments for later to speak further, ok? An important thing I want to share with you is that with now knowing her diagnosis, we will be able to start to arrange appropriate therapies and medical services and to better observe for any additional specific Rett syndrome-related changes as she ages.

Shannon Standridge, DO, MPH: Hi, I am Dr Shannon Standridge and I am a pediatric neurologist at Cincinnati Children's Hospital Medical Center and I'm the medical director of the Vinea Rett Syndrome and Related Disorders Clinic. Welcome to this program titled Communication Strategies With Caregivers Following the Diagnosis of Rett Syndrome. Rett syndrome is a severe developmental disorder that is estimated to affect 1 in 20,000 to 1 in 40,000 people worldwide. This condition is one of the leading causes of developmental and intellectual impairment in girls aged 18 years or younger.

While MECP2 mutations are the cause of Rett syndrome, around 5% of individuals with typical Rett do not have an identified mutation in the MECP2 gene. MECP2 alterations can be found in both females and males and can occur in 95% to 97% of individuals with typical Rett syndrome and up to 75% of individuals with atypical Rett syndrome. Because MECP2 alteration is neither necessary nor sufficient to diagnose Rett syndrome, the syndrome must be a clinical diagnosis. Individuals with Rett syndrome generally have a normal early postnatal development for the first 6 months of life. Then typically between 6 to 18 months of age, they begin to have a slower developmental process, a stagnation full of delays. Then between 1 and 4 years of age, they experience a period of developmental regression followed by recovery or stabilization eventually, as well as the onset of repetitive purposeless hand movements.

The core diagnostic features of Rett syndrome are the loss of expressive language, the loss of functional hand use, impairment in ambulation, and presence of stereotypic hand movements. Individuals may also present with atypical Rett syndrome, provided that they have a period of regression also followed by recovery or stabilization and 2 or more of the 4 main diagnostic criteria. As well as having 5 of the 11 supportive criteria, which happen to be breathing disturbances when awake, bruxism when awake, impaired sleep pattern, abnormal muscle tone, peripheral vasomotor disturbances, scoliosis or kyphosis, growth retardation, small, cold, hands and feet, inappropriate laughing and/or screaming spells, diminished response to pain, and intense eye communication or referred to as eye pointing. Let's turn back to the office visit where Dr Park will further describe Rett syndrome to the parents.

Dr Park: So I wanted to talk to you a little about Rett syndrome, and what we’re seeing with Theresa. It is important to keep in mind that some children are more severely affected than others and that not all children experience all the known features associated with the condition. Children with Rett syndrome typically go through different stages of the condition, but there is often overlap of these symptoms. In the beginning, children show some developmental delays, like you saw with Theresa.

Dr Park: During the second stage, or regression stage, the child starts to lose some of the skills they previously gained, such as sitting up or holding objects.

Frank: Yes, we definitely saw that happen recently with Theresa.

Dr Park: I believe Theresa might be entering into the third stage of the condition, called the plateau phase. Here, we usually do not see any further regression, and often some of the symptoms developed in the second stage can improve, such as decreased crying, increasing interest in people and things again, improved communication and interaction. But it is often during this stage that other changes occur, such as seizures or the onset or worsening of irregular breathing and other medical concerns such as constipation.

Julia: So you mean her sleep issues and crying spells might get better? How long will she be at this stage? And is there a next stage?

Dr Park: I’m afraid it’s difficult to predict how long Theresa may stay in this stage. Many people with Rett syndrome spend most of their life in stage 3, but we cannot say for sure how long this will be.

Frank: But there is a stage after this one?

Dr Park: Yes, some individuals may progress to stage 4 of the condition, at which point they may experience worsening of their motor skills and become weaker overall and become more stiff. Reassuringly, seizures commonly improve with age and the individuals maintain their communication skills.

Frank: I understand. But... are there things we can do for Theresa now, to help her cope with her symptoms?

Dr Park: Oh yes! We will refer Theresa to physical and occupational therapy to begin strengthening and stretching exercises and start the work of helping her to regain her skills. You haven’t mentioned it yet, but I’d like to find out if Theresa is starting to show signs of gastrointestinal issues and if we need to consider treatments for reflux and constipation. We can also talk about some possible lifestyle modifications to help her with sleeping.

Julia: Oh my, this is indeed a lot to take in. Even as Frank and I learn more about this new diagnosis, I think it’s a good idea to discuss how we can start to help make Theresa’s life easier for her, I think that would help us feel better, too.

Dr Park: Of course. Let’s see what we can arrange for now, and we’ll continue to work together to help address Theresa’s specific symptoms. And remember, you can call us any time if you have any questions or need some advice. Ok?

Julia and Frank: Ok, thank you Dr Park.

Dr Standridge: Not every person experiences all symptoms of Rett syndrome and the severity and the age of the symptom onset varies between individuals. So treatment plans need to be tailored to the individual needs. Multi-system comorbidities are very common in individuals with Rett syndrome. Neurologic comorbidities, including irregular breathing patterns, epilepsy, and dysphasia occur in more than 90% of the individuals, while approximately 80% of the individuals experience scoliosis and 80% experience constipation with almost 60% having a low bone mineral mass and almost 18% to 20% with a prolonged QT interval. Issues with gastroenterology and nutrition occur in many individuals and may include dysmotility, constipation, reflux, poor weight gain, vitamin and mineral deficiencies, prolonged feeding times and chewing and swallowing difficulties, just to name a few. Seizures have been reported in 50% to 90% of the individuals with Rett syndrome, with many experiencing not only seizures but non-epileptic, paroxysmal events as well. Typically, seizures develop during the plateau stage of the disease and occur rarely in children less than 2 years of age.

The presence of seizures has also been associated with increased clinical disease severity and greater motor and communication impairment. While seizures are common, these need to be distinguished from what's often referred to as the Rett spells, the non-epileptic paroxysmal events. These can appear seizure-like and include twitching, jerking, head turning, breath holding, staring, hyperventilation, pupil dilatation, but they're not associated with typical discharges seen on the electroencephalogram (EEG). Once it's determined that the event is a seizure, treatment should begin with an anti-seizure medication. Often seizure logs and video evidence provided by the family can help clinicians in their diagnosis, but often video EEG is necessary and the most robust method for determining whether events are true seizures.

Let's turn back to the patient's case where the parents are returning for a follow-up visit about 6 months later and see what happens next.

Dr Park: Hello, Julia and Frank, it’s good to see you again.

Julia and Frank: Hello, Dr Park.

Dr Park: It was good to see Theresa, too, at her check-up the other day, and I wanted to take a moment to ask you both: how has she been doing at home?

Frank: Well, we’ve definitely had some ups and downs.

Julia: Some things are getting better, but other symptoms don’t seem to be changing at all.

Dr Park: Can you perhaps give me some examples?

Frank: Well, her constipation has definitely been getting better since we started treatment. She now is back to having a stool almost daily and the consistency is softer.

Julia: We are still having trouble with sleep, though. We’ve made some changes to her bedroom to encourage her to sleep better, but it doesn’t seem to be working, yet. She’s also still wringing her hands quite a bit. On a positive note, though, she is having fewer moments where she cries uncontrollably. This seems to be lessening some, like you said might happen.

Dr Park: Ok, that is good news. And has she started seeing any of the different healthcare providers we discussed?

Frank: Yes, so far we’ve been in touch with the occupational and physical therapists, the gastroenterologist, and the dietician. And we have an appointment with the rehabilitation specialist next week to discuss possible equipment that can help Theresa. We’re also learning more about methods of communication with Theresa, and what that might look like in the future.

Dr Park: Ok, that sounds great. It’s important that Theresa sees these specialists so we can make sure that she stays as healthy and as comfortable as possible. We also want to make sure she’s getting the care she needs right now, while keeping an eye out for any other symptoms that might develop, and I want you to call me if Theresa starts showing any new symptoms, ok?

Julia: Yes, we will.

Dr Park: Have you had a chance to look at the information on the websites and support groups we spoke about last time?

Frank: Yes, they’ve been really helpful, and we’ve joined one of the support groups. It’s a relief to know that we can talk to other parents about our experiences. On that note we had a question for you, Dr Park.

Dr Park: Of course, please.

Julia: Well, we’ve been doing some research on Rett syndrome, and we saw that there is a possible treatment for the condition? Is that right?

Dr Park: That’s correct, Julia.

Frank: Do you think this might be an option for Theresa? Would it make her entirely better?

Dr Park: The treatment is not a cure for the condition, I’m afraid, Frank. But it can help improve the symptoms of Rett syndrome and could help improve Theresa’s quality of life. And yes, I think she might be a good candidate for treatment. Let’s discuss the details a bit more.

Dr Standridge: Caring for a child with a chronic disease represents a challenging dynamic role for parents and can have a substantial impact on the parents as well as all the other family members in the household. Caregivers' roles may change over time as the disease progresses through the different stages. With appropriate symptom-directed care, individuals with Rett syndrome can live longer and meaningful lives.

Management of Rett syndrome throughout life requires interactions of many specialist teams. These may include pulmonary, cardiology, gastroenterology, orthopedics, physical rehabilitative medicine specialists, along with sleep therapy, speech therapy, feeding therapy, occupational and physical therapy, augmentative communication therapy, and vision therapy. There are published guidelines that detail possible therapeutic approaches for the management of many of the different aspects of Rett syndrome that we've talked about today, including seizures, abnormal breathing, growth related concerns, constipation and reflux, behavioral issues, sleep abnormalities, development, and education. There are many different ways to treat symptoms, but some of the examples that are suggested in these published guidelines may include constipation treatment with laxatives such as polyethylene glycol, magnesium hydroxide, glycerin, or a bisacodyl suppository. Reflux may be managed by the use of a proton pump inhibitor or a histamine H2 blocker. Because there is an increased risk of fractures, individuals with Rett syndrome may require vitamin D and calcium supplementation to ensure age-appropriate dietary intake. And as we've already discussed, treatment with an anti-seizure medication may be necessary for those who experience seizures.

Treatments for spasticity to reduce tone to maintain function and prevent contractures may also be necessary for some individuals. To improve communication, interaction, and learning, speech-generated devices or alternative forms of communication are necessary in order to help individuals with Rett syndrome express themselves. Before 2023, there were no specific pharmacologic therapies available, so the management really focused on treatment for supportive care and symptomatic management tailored to the individual's needs.

Trofinetide was approved by the US FDA in March 2023 and is indicated specifically for use in patients ages 2 years and older. In the phase 3 LAVENDER trial that was conducted in 187 female patients, ages 5 to 20 years of age living in the United States, trofinetide showed improvements in both the caregiver-evaluated Rett Syndrome Behavioral Questionnaire and the clinician-evaluated Clinical Global Impression of Improvement. The most common side effects are diarrhea and vomiting. There are other emerging therapies. Blarcamesine, which is a sigma 1 receptor agonist and muscarinic receptor modulator, as well as ketamine and N-methyl-D-aspartate receptor modulator, may be an emerging therapy in the near future, along with 2 different gene therapy trials using slightly different therapeutic approaches. These include TSHA-102, which is in a phase 1, 2 trial, as well as NGN-401, also currently in phase 1, 2 trial.

Thank you for participating in this activity. Please continue on to the questions and complete the evaluation. Thank you for your time and your attention today.

This transcript has not been copyedited.

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