For Theresa Bartolotta, Ph.D., CCC-SLP, good things have come through community.
Bartolotta, a speech-language pathologist (SLP) with more than 40 years of clinical experience, discovered her passion for helping others in high school. She spent many Saturdays volunteering at a respite clinic for children with autism, opening her eyes to career opportunities within the field.
“I thought, I really want to work with people who have difficulty communicating,” she recalled. “I just felt a special calling to the work.”
This calling not only led Bartolotta to a robust career as an SLP, but it later helped her navigate her role as the mother of a child with Rett syndrome.
“It took almost a decade for my daughter, Lisa, to receive an official diagnosis,” Bartolotta said, referring to the ten years of research, doctor’s appointments, and heartache that her family endured before testing became available for Rett in 1999.
“The great value of giving this disorder a name came in that we could become a part of a community,” she said. “That there were other families going through this and together we could gain a much better understanding of what the future was going to look like for Lisa. How Rett would manifest as she aged. It helped us to be more proactive with her care.”
It also opened her eyes to the challenges that the Rett community faced. At the time of Lisa’s diagnosis, the outlook for the disorder was bleak. Early research on Rett was particularly discouraging as it talked only of regressions and severe disabilities.
However, Bartolotta encountered many parents and caregivers of Rett patients who found that their children’s communication abilities were often underestimated. Bartolotta shared these sentiments about her own daughter.
“Lisa was able to touch a computer monitor to communicate, and she liked doing that,” she said. “I saw a lot of communication potential in her, but everything I read suggested otherwise. That’s what drove me to study Rett syndrome. I became very active in my local parent’s association and ultimately published my dissertation on communication perceptions of the disorder.”
That work took Bartolotta to the 3rd European Rett Syndrome Conference in the Netherlands where she was asked to present her research.
“It was there that I first met fellow SLPs Gillian Townend, Ph.D., MRCSLT, from the Netherlands and Helena Wandin, Ph.D. from Sweden,” Bartolotta said. “We all shared the same concern that there was a lack of guidelines for best practices in developing communication skills for individuals with Rett syndrome. We had some great conversations at the conference, and we knew we wanted to work together somehow.”
So the three women, alongside Anna Urbanowicz, Ph.D., an occupational therapist from Australia, and academic researcher, Prof. Leopold Curfs, from the Maastricht University in the Netherlands put together a proposal to develop these guidelines with a focus on assessment and intervention for Rett syndrome patients. In 2016, the project was funded by an IRSF HeART grant and the team got to work.
A Collaborative Effort
Spanning three continents and four countries, the group met virtually to develop a robust communication survey that was translated into 16 languages and sent to parents and Rett professionals across 43 different countries. From these survey responses and a comprehensive literature review, the team pulled nearly 300 statements and recommendations for good communication practice which were then presented to an expert panel.
“We had 36 experts from a variety of professional fields – including assistive technology, occupational therapy, and special education – provide input as we developed the guidelines,” Bartolotta said, stressing the importance of the team’s holistic approach.
In all, more than 650 participants contributed in some way to the consensus-based guidelines.
“We reached people all across the globe,” Bartolotta said of the project, which was published as both an academic paper and handbook in 2020. “It was a completely collaborative effort.”
The Rett Syndrome Communication Guidelines handbook, which is available online, was designed to provide a common baseline for consistent, evidence-based information on the disorder for parents and professionals including therapists and educators. While it offers insight for any person requiring augmentative and alternative communication (AAC) options, Rett syndrome is the focus of the handbook, with special sections highlighting the features of the disorder that can impact communication and strategies to optimize engagement.
The handbook focuses heavily on assessment and intervention techniques, but Bartolotta advised that the sections are not meant to be followed as a step-by-step guide.
“Each Rett patient is unique so every parent or practitioner will use the handbook differently,” she said. “What is important to us is that the information is accurate and accessible. Now that we know that Rett patients have this larger capacity to learn and communicate, we wanted to broaden the guidelines. This is a place to start.”
Bartolotta’s goal is for every SLP to know what Rett syndrome is. She admits that she had never heard of Rett syndrome before having her daughter. As a niche disorder, she has her work cut out for her, but the guidelines have provided a global audience with a baseline. Currently, they have been translated into seven languages.
The team is still in the dissemination phase of the project where they are continuing to get the guidelines out and assessing the impact. Bartolotta says that she is hearing from families and clinicians that the guidelines have given them hope.
“Being able to present this research to Rett families across the globe who are frustrated and feel as though their child has so much communication potential is incredibly exciting,” she said. “These guidelines have provided a baseline for them. We aren’t just looking at the medical side of Rett; while that is certainly important, we are also looking at the everyday care. How can you improve someone’s quality of life on a daily basis? This is where we are really making an impact.”
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HIVE: Continuing the Conversation
The ripple effects of the Rett Syndrome Communication Guidelines handbook have inspired a larger conversation around communication in Rett. As technology advances and therapies are being tested and approved, parents and practitioners have questions that they need informed answers to.
The IRSF Communication Guidelines CE certification is available to parents and practitioners looking for strategies to help Rett individuals reach their full communication potential. To achieve the certification, participants will view three one-hour webinars (available online here) led by Bartolotta and take a brief post-webinar quiz after each course.
After completing all three courses and passing the associated quizzes, participants are invited to a private, online forum called HIVE, which is led by experts in the field. This forum provides ongoing mentorship, resources, and education about communication and Rett syndrome.
“We have recruited moderators for this forum very carefully,” Bartolotta said. “Everything that is presented is evidence-based. It’s a great place to go with questions.”
For more information about the IRSF Communication Guidelines CE certification, please visit rettsyndrome.org/for-communication-professionals.
