RSE and Rett Syndrome Associations from all over the world were present at the 7th World Rett Syndrome Congress in New Orleans

RSE and Rett Syndrome Associations from all over the world were present at the 7th World Rett Syndrome Congress in New Orleans.

Rett Syndrome Europe was present at the 7th World Rett Syndrome Congress hosted by IRSF, International Rett Syndrome Foundation, in New Orleans.

RSE was represented by Martine Gaudy, RSE Secretary and Thomas Bertrand, representative of the French Rett Syndrome Association on the board of RSE.

Both attended the family sessions, and the scientific sessions. Martine Gaudy gave a keynote address at the Tribute Reception to the families, on behalf of Rett Syndrome Europe and as past host of the previous Congress ( download pdf document Address World Conference on Rett Syndrome)

Many parents associations from Europe were present : France, Netherlands, Denmark, Norway, Sweden, Russia and many of them, if not present, supported the presence of scientists from their country. Representatives of Canada, Australia and Mexico were also present.

The sessions for families and caregivers, and those dedicated to clinical and basic research, attended mainly by clinicians and scientists, were all of great value and showed there is a very active research and a large concern towards improving the quality of care for those affected by Rett Syndrome.



7th World Rett Syndrome Congress


A Good Night’s Sleep for the Whole Family: Managing Sleep Problems in Rett Syndrome Goals for this session include how to recognize what are age appropriate sleeps habits; identify causes of sleep disruption; sleep problems versus learned behaviors; how families can move toward appropriate sleep habits. We will discuss the frequency, types, and impact on the child and the family of sleep problems in Rett syndrome; the diagnosis of sleep problems including questionnaires, actigraphy and sleep studies with an emphasis of when a sleep study is indicated and what information does it provide; the treatment of sleep problems including behavioral management and medications; addressing other medical problems that impact on sleep; with emphasis on insomnia and sleep related breathing problems. Finally, we will discuss promoting “good sleep” with emphasis on sleep hygiene and steps to improve sleep.

Apraxia and Communication Children with Rett Syndrome face a variety of challenges to communication and learning. Severe apraxia makes it difficult for
them to move their bodies according to their intents. Neurologically driven hand wringing and mouthing stereotypes often make these children appear severely cognitively impaired. How does apraxia affect motor skills, nonverbal communication, and verbal skills for children with Rett Syndrome? Where do you start? How do you
tap into the child’s communicative intent? Strategies
for reading subtle non-verbal communication and then helping the child develop a more reliable, and clear means of communication will be explored.

Beyond Emergent Literacy—Let’s Teach Them To Read! This fast-paced session will focus on the 4 blocks of a Balanced Literacy Program and include extensive video of girls with Rett Syndrome learning to read. Procedures and strategies will be delineated for teaching decoding skills (Word Block) and silent reading with comprehension (Guided Reading). Video of sessions will be shared in which a variety of communication devices are integrated into the read-alouds (Self-Selected Block) to support the acquisition of comprehension skills and communication. Various computer programs will be modeled to demonstrate active and engaged writing (Writing Block) through the use of Classroom Suite and Clicker. Come along and learn the reading possibilities for individuals with Rett Syndrome. Teachers, administrators and Speech Therapists will gain valuable knowledge to take back to their classrooms to make an immediate impact. Parents will be delighted to see the possibilities for their children no matter their age!

Bringing You Protected Tomorrows: Your Journey Through an Eight Step Special Needs Planning Process As family members of a person with a disability, we so often tend to view life in light of the challenges presented to us. Bringing You Protected Tomorrows looks at our lives in a whole new light, as Mary Anne Ehlert provides a passionate glimpse of her life with her sister, Marcia. The presentation will be uplifting
and entertaining, as well as provide a good basic understanding of some important facts. Participants will develop the foundation for their family’s own personal Eight Step Future Care PlanTM. Some topics of discussion include: how to create a map of the future; how to prepare legally and financially; how to incorporate and maximize government benefits; how to prepare for transition; and how to communicate your Future Care PlanTM to your family.

Care Concerns for the Rett Adult: A Family Panel and Discussion What do you do when your child with Rett Syndrome is now too old to go to school? What are the living options? What are some good care options? What activities can be arranged? How does one plan for future care? These and other questions about caring for the Rett adult will be addressed by a panel of three parents of adults with Rett Syndrome who are in the midst of answering these questions for themselves. Each panel member will have 10 minutes for presentation, allowing time for questions or sharing of insights from the audience.

CDKL5 Family Meeting Mutations in the x-linked CDKL5 (cyclin-dependent kinase-like 5) gene have been identified in patients with Rett syndrome, with the predominate features of generally intractable early-onset seizures and severe neuro-developmental impairment. Overall, the characteristics of CDKL5 are similar to Rett Syndrome, however most patients diagnosed with a CDKL5 mutation do not have a MeCP2 mutation, and the emerging clinical picture is that of an epileptic encephalopathy. This satellite conference will focus on issues specific to children affected by CDKL5, including research updates, seizures, CVI, physical and speech therapies, and advocacy. This conference is designed to supplement the IRSF family conference program. Target Audience: families of children with a known CDKL5 diagnosis; families of children with clinical Rett Syndrome who do not have a MeCP2 mutation, or who have prevalent seizures; all others interested in learning more about CDKL5 and current research.

“Charting the Course” for Those Living with Rett Syndrome. The Natural History of Rett syndrome:
An Update on Recent Progress In reviewing the history of Rett syndrome (RTT), the evolution of our thinking has taken fascinating turns, not least the expanded phenotypic expression of MECP2 mutations among individuals with mutations in the gene, MECP2 (methyl- CpG-binding protein 2). These include individuals with RTT, 95% of whom have MECP2 mutations, but also those who lack the core features of RTT and still others with duplications of this gene. The Rare Disease RTT Natural History Study has contributed significantly to this evolution and provided important longitudinal perspectives on growth, epilepsy, scoliosis, GI issues, puberty, quality of life, and survival. As such, current attitudes regarding prognosis differ dramatically from 1983 when RTT was first well-known to the world-wide medical community. As laboratory-based advances
are translated into rational therapies, these and future longitudinal insights will represent important guideposts for the formulation and conduct of clinical trials in this unique neurodevelopmental disorder.

Crackerbarrel Breakout Sessions: Conference Hopes and Expectations are informal chat groups. There
won’t be any crackers, but it’s guaranteed to be a barrel of friendship and warmth. Gather in groups by your child’s age, or your relationship to the conference, to discuss hopes and expectations for the meetings. This is a wonderful time to meet others in a casual atmosphere to talk things over.

Dad’s Only Panel Dads are special people to begin with; however, a dad to a Rett Angel is even more special. This “dads only” session will provide an opportunity for you to interact with other dads in a very honest and genuine way allowing you to learn more about Rett syndrome, your daughter and yourself. Come join the camaraderie and leave with a few new friends.

Databases: Importance of family and patient contributions to our collective understanding of Rett syndrome This session will discuss the importance of national and international data collections in helping to increase our understanding of Rett syndrome. There will be a particular focus on InterRett, the IRSF Phenotype Database to which families have made and continue to make a major contribution.

Research topics in which InterRett data have specifically been involved cover a broad range of issues including: comparisons of clinical outcomes among those with different types of mutations in the MECP2 gene; analysis of characteristics influencing time of diagnosis; guidelines for the management of scoliosis; and the link between MECP2 mutation and sensitivity to pain. Examples of what we have learned from InterRett and other databases about these and other outcome such as epilepsy, growth and fractures will be shared.

Finally there will be a demonstration of both how families can view output from InterRett and how they can register and participate in this project.

Diagnosis and Classification of Rett Syndrome: DSM- 5 and Other Systems Rett syndrome (RTT) was first described in the English-speaking medical literature in 1983. Since this publication, several diagnostic criteria have been released. The most recent, in December 2010, refines the clinical features of RTT and their relationship with MECP2 mutations. In 1994, the Diagnostic and Statistical Manual of Mental Disorders, 4th Edition (DSM- IV), the main system for classifying psychiatric disorders, included RTT as a subtype of Pervasive Developmental Disorders (i.e. autism spectrum disorders). Since the beginning, the inclusion has been controversial since severe autistic symptoms are only present in RTT during the period of regression in early childhood. The revision of DSM-IV, currently in process (DSM-5), has merged all subtypes of autistic disorders into the single diagnosis of autism spectrum disorder. This has led to the elimination of RTT or any other genetic disorder as a unique type of autism spectrum disorder. Nevertheless, a girl with RTT and severe autistic symptoms could still be diagnosed as having autism spectrum disorder associated with RTT,

Despite the progress in diagnosis and classification of RTT, the disorder does not have its unique ICD code (International Statistical Classification of Diseases and Related Health Problems), the World Health Organization system for diagnosing all types of diseases. This situation creates many clinical and public health problems, since the ICD system is used around the world and does not specifically record RTT. The diagnostic and classification issues described above will be discussed in detail during the presentation.

Emotion and Behavior in Rett Syndrome Individuals with Rett syndrome (RTT) undergo changing patterns
of disturbed behaviors. Certain well recognized patterns are observed in phase two; between 18 months to 3 years, manifesting as irritability, poor sleep, crying, social withdrawal, and loss of language and hand use. Following this phase a significant proportion develop behavioral disturbances around ages 5-10 years. The most disruptive behaviors are screaming, hair pulling, biting, hitting, pacing, anxiety, inattentiveness and hyperactivity. In pre-teens, teens, and young women 10-20 years of age; moodiness, sleeplessness, poor appetite, loss of weight, loss of interest in activities they enjoyed previously, unexplained crying and signs resembling depression are noted and change with maturity. These behaviors not only interfere with therapeutic and educational interventions but are a major challenge for care
givers and clinicians. Discussion will focus on possible biological underpinnings for these behaviors and some management strategies.

From Mind to Molecules: The Neurobiology of Rett Syndrome The brain is the most complex organ in the human body. When the molecules that regulate how a brain forms do not function properly, diseases such as Rett Syndrome result. This session will address some of the basic concepts to better understand the dysfunction occurring in patients with Rett Syndrome in the whole brain as well as individual brain cells. While we will walk through some Neurobiology 101, we will also cover the highlights in the current literature that may bring us closer to understanding and treating Rett Syndrome.

Genetics: Beyond the Basics After a brief review of the basics of genetics, we will discuss interpretation of MECP2 mutations and explore how genetic knowledge

Grandparents Only Panel Grandparents are unique when it comes to Rett syndrome; they are doubly affected as they at times see their own children struggling as well as their grandchildren. This “grandparents only” session provides a forum for you to express your concerns, thoughts and questions. Come join in this session and leave with more knowledge on Rett syndrome and how to best serve as special grandparent.

Integration in the Elementary and Middle School Environment – A Success Story! The possibilities for your own child are easier to imagine if you see how someone else has done it. This session is a real telling of Ellie, a 13-yr old with classic Rett syndrome. Ellie is fully- included in her typical suburban Missouri school with modified curriculum. We will look very practically at how her teacher, classmates, and parents support her, teach her, and learn from her.

Interventions and Therapies in Rett Syndrome. Early Not Late: By One and All Interventions and therapies should be ingrained in the rationale that Rett Syndrome is not a degenerative disease. Each individual has the potential to develop new skills. The changing pattern of tone and movement and the evolving character of emotion and behavior should all be considered in the treatment and management of RTT. Experience shows that latent skills in the person may be overlooked if professionals working with them are not informed or
do not believe in their untapped abilities. Hopefully
this presentation will provide sufficient and convincing evidence to show that Rett syndrome is unique in that the immature brain has much potential to learn if exposed to stimulating and learning experiences early, consistently and continuously. There is no one parameter that can be measured but functional development needs to be addressed at different ages. Outcomes may also be based on Genotype/Phenotypes.

iPad Worskshop: “APPy Tyme” – APPsolutely APPropriate APPs Do you own an iPad? Do you want to own an iPad but need to know why you need one? Attend this session and our panel of experts will explain why an iPad is an appropriate tool (including adaptive devices) and will show you numerous apps that will engage
your child and support communication and meaningful, interactive learning. There will be APP demonstrations and we will lead you through a fun, hands-on activity. You will leave ready to create exciting customized activities to use at home! To truly benefit from the workshop, we encourage attendees to bring their personal, FULLY Charged iPad with the latest Operating System installed to the session and to download Sonic Pic (APP available on iTunes APP store). The goal of this workshop is to introduce attendees to appropriate APPs for communication, literacy, interactive play and leisure, including switch-accessible APPs, and to create and customize an APP. Target Audience: Parents, Educators, and Clinicians (iPad specific).

“Light Tech” Communication part 1 Children with Rett Syndrome need a variety of means to communicate according to their specific abilities, sensory state and motor control throughout the day. Their communication ‘toolbox’ may involve a combination of “light tech” and “high tech” strategies. Severe Apraxia makes moving according to intent challenging and variable for these children. Communication is enhanced through use of a collection of multiple modality tools that are flexible and can be called upon in a variety of different situations.

This session will look at a variety of “light tech” communication strategies such as: teaching a yes/no response and a means of partner-assisted pointing, creating co-planned sequenced social scripts, reading subtle cues, and providing an environment for learning a visual language system.

“Light Tech” Communication part 2 “High tech” systems, such as those accessed by eye-pointing, are becoming more widely available to children with Rett Syndrome. While this is a wonderful and very powerful technology for these individuals, it cannot serve as the only means that a child has to communicate. Every child needs to be able to have a ‘voice’ at any time during the day or night, to be able to communicate what she wants to say, when she wants to say it, wherever she happens to be. Portability, need for power, unreliability of technology, an operational learning curve, positioning of equipment and the child, necessitates a “light tech” communication system to be used as a backup and/or a primary means of communication as one part of her multi-modality communication system.

This session will take a brief look at (Pragmatic Organization Dynamic Display) communication books, created by Gayle Porter (Melbourne, Australia). PODD
is a vocabulary organization system that spans the range of language levels and Access methods. PODD is also
a collection of strategies for teaching a visual language for communication, based upon typical language development. In its “light tech” form, PODD is ‘partner powered’ allowing for recognizing and the child’s subtle and variable motor skills while putting the focus on interaction and social engagement.

Meaningful Access: An Occupational Approach
to Increasing Independence for Children with
Rett Syndrome “I am looking, I am interested, I am trying.” This is how a mother describes her daughter’s frustrations to me. She believes her daughter is saying “I know, I want, I understand, but…I can’t!” What can we do to help children with Rett Syndrome access the world? What does “access” really mean? When many activities seem so challenging, where do we start? This session will help answer these questions by following a three- part, child-centered model: Occupations (meaningful, daily activities); Preferences (sensory-based); and Environments & Barriers. We will also watch short video clips of access treatment ideas. Target audience: Parents, clinicians, educators, therapists.

Music and Music Therapy – What Can it Afford Individuals with Rett Syndrome? There are many different ways of utilizing music and music therapy when working with individuals with RS. In this presentation I will attempt to describe and show several approaches in music and music therapy and how these are used
as tools to develop communication, cognition and emotional expression; including musical improvisation (vocal and instrumental) and pre-composed music and songs. In addition, I will discuss how these approaches can be used in individual music therapy, group music therapy, inclusion music programs, co-therapy and working within a multi-disciplinary evaluation team. The presentation will discuss the ecological concept of ‘affordance’, which is more than just how useful and effective music can be for individuals with RS but also how its potential and usefulness is reciprocal and relates to their current needs or purpose. The presentation will be accompanied by video material.

Nutrition and Gastroenterology (GI) Tweets for Rett Syndrome An overview of common nutrition and GI issues to watch for in Rett syndrome, including under-nutrition, over-nutrition, poor bone mineralization, gastrostomy button care, swallowing difficulties, GERD, gas bloating, and constipation, along with general nutrition guidelines and tips for feeding, as well as recommended treatments and interventions.

Partnerships in Care of Individuals with Rett syndrome: Integrating Medical Therapeutic and Educational Interventions Rett syndrome presents challenges for the individual and their family. The day
to day struggles presented by the disorder cannot be handled by one person. This interdisciplinary panel presentation will focus on the importance of a team approach in the management of Rett syndrome. Experts in medical, therapeutic and educational interventions will share strategies for involving parents and professionals in intense, focused interventions to maximize outcomes in Rett syndrome. The need for a comprehensive approach to medical management will be emphasized. The value of functional assessment and the role of adaptations and assistive technology. The need for a team approach in music, occupational, physical and speech therapies and strategies for successful implementation will be described. The panel will stress the involvement and collaboration of parents and professionals in development of functional and appropriate interventions for now and into the future.

Physical Therapy for Rett Syndrome: A 24/7 Activity Program Due to the physical challenges faced by the individual with Rett syndrome and her family, her rehabilitation program should support her throughout different daily activities, contexts and surroundings. Habilitative interventions to reverse physical impairments include exercise of various types and different physical modalities. Nevertheless, in the vast majority of cases, hands-on therapeutic intervention opportunities are available for the client through a minute part of her waking hours. Hence, a supplementary system is required in order to engulf the child with a comprehensive network of support. The “24/7 activity program” can support the therapeutic goals of the client, at a time when direct intervention is not supplied and assists in overcoming the child’s physical impairments. The presentation will give evidence and guidelines to incorporating an intensive program into the life of the person with Rett syndrome and her family.

Speech-Language Pathology: Partnering with Families, Teachers and Therapists to Maximize Communication This session will provide information on what is
currently known about communication in Rett syndrome and working with the speech-language pathologist to maximize communication opportunities for children with Rett syndrome. A brief review of the research on communication in Rett syndrome will be provided. The role of the speech-language pathologist in assessment of communication and development of intervention plans in conjunction with family members and other professionals will be discussed. Strategies to increase communicative behaviors in the classroom and home settings will be shared, including the use of a communication coaching model that can be implemented in a number of settings by multiple individuals. Attendees will leave the session with strategies to share with their child’s speech- language pathologist. Target audience: Parents, therapists, clinicians, educators.

“Ramping up” Eye Gaze Technology: Enhancing Communication and Literacy Learning for Girls with Rett Syndrome It is never too early or too late for a girl or woman with Rett Syndrome (RTT) to experience the true power of eye gaze technology! Girls of all ages are using eye gaze technology to communicate what is truly on their minds and in their hearts. This session will highlight the necessary components to include when programming an eye gaze system to support a girl’s social, language and literacy development. Modified layouts that are improving girls’ ease of access to vocabulary will be shared along with video examples showing how they are quickly learning to use these layouts to initiate and engage in conversations. In addition, literacy activities that can be accessed using eye gaze technology will be demonstrated. Videos of very young girls using optical head pointers will show how this tool can be used as an interim means of access while pursuing funding for eye gaze technology. Target Audience: Parents, Clinicians, Therapists and Educators.

Scoliosis and Orthopaedic Issues Altered muscle balance and difficulties with functional activities are often experienced by girls with Rett syndrome. These impose stresses on the musculoskeletal system which can be associated with the development of scoliosis
and other orthopaedic issues. This workshop will present and discuss information on the prevalence of and risk factors for scoliosis, how it is diagnosed and monitored, and how it is managed. Management will
be discussed in terms of physical activity, postural care and surgical strategies. Importantly, the workshop will provide family perspectives on treatment. Family and clinical perspectives will be integrated to identify the key messages for spinal health and participation in physical activities for girls and women with Rett syndrome. An overview of hip instability and the development of foot deformities will also be presented.

Speech-Language Pathology: Partnering with Families, Teachers and Therapists to Maximize Communication This session will provide information on what is
currently known about communication in Rett syndrome and working with the speech-language pathologist to maximize communication opportunities for children with Rett syndrome. A brief review of the research on communication in Rett syndrome will be provided. The role of the speech-language pathologist in assessment of communication and development of intervention plans in conjunction with family members and other professionals will be discussed. Strategies to increase communicative behaviors in the classroom and home settings will be shared, including the use of a communication coaching model that can be implemented in a number of settings by multiple individuals. Attendees will leave the session with strategies to share with their child’s speech- language pathologist.

Siblings Panel Don’t miss what has been referred to as one of the highlights of past conferences! The Siblings Panel, open to everyone, is a touching and meaningful session where siblings of individuals with Rett syndrome share their experiences and life’s lessons. Siblings, ranging in age, proudly share what it is like to have such a special sibling in an honest and heartfelt way.

Taking the Mystery Out of Seizures What is a Seizure? What is Epilepsy? How frequent are seizures in Rett syndrome? What is the relationship of seizures and
the MECP2 mutation, age and clinical severity? How are seizures diagnosed? Does my child need an EEG? Non seizures: when are these suspected and when is prolonged video-EEG indicated? What treatments are available for management of seizures? When are and which medications are indicated for the management of seizures? When medications fail, what other therapies are used? Can treatment for seizures ever be stopped? What should be done if my child has a seizure at school? These issues and more will be looked at, with ample time allowed for audience questions.

The Importance of Autonomic Problems in Rett Syndrome Many, if not all, people with Rett syndrome have a set of problems we consider to be problems with the autonomic nervous system, which controls basic bodily function that are not consciously controlled. Some of the features are changes in the pattern of breathing with fast breathing and breath holding, temperature control problems, and changes in the heart rhythm. These problems can dramatically impact the quality of life for people with Rett syndrome and their caregivers, and they can be potentially dangerous and even life-threatening. In this session, we will review and discuss these autonomic abnormalities and talk about potential ways to treat these problems.

Therapies for Rett Syndrome: Past and Current Clinical Trials, and Future Prospects Since the discovery that MECP2 gene mutations cause most cases of Rett syndrome (RTT), there have been intensive efforts to better understand the biology of this complex disorder, using a multipronged research approach, including cell culture experimentation, animal model research and human studies. Although a definitive cure is yet to be developed, the demonstration, in animal models of RTT at least, that many of the physical, motor and behavioral problems appear to be reversible, has fired enthusiasm for the development of targeted therapies. In this presentation I will review previous (some promising, others not so promising) and current therapeutic trials, and will describe some potentially exciting future directions of research into treatments of RTT.

Understanding Chromatin, Epigenetics and the MeCP2 protein This talk will explain what DNA, chromatin, and post translational modifications are. We will talk about the MeCP2 protein and its role in genome structure, the methods we use to study MeCP2 in our laboratory, what the crystal structure of protein is, and why it is important to know the structure of MeCP2. This discussion will include a talk about possible Rett syndrome therapies.

What Goes Right in Her Brain In this talk Dr. Djukic will illustrate the belief with which she runs the Rett Syndrome Center at Montefiore: that a child with Rett syndrome will be best served if approached not only as a patient but as a whole child. Like any other individual, those with Rett syndrome besides weaknesses have strengths and these strengths can be utilized in order to overcome weaknesses. Treatment of any individual symptom (seizures, irritability, apraxia…) is only a part of the broader picture. Dr Djukic will review these positive aspects from different standpoints including cellular/ microscopic, imaging/MRI, therapies (PT, OT), psychological/educational planning, and illustrate how they should be incorporated into the guidance that the physician provides to each family for treatment, education and research planning.

Womanhood in Rett Syndrome 2012: From Puberty to Menopause Women in this decade are thought to be maturing earlier and yet have many options with regard to choices and care. The same is true for women with Rett syndrome. This session gives up-to-date information about the maturation process from onset of puberty to menopause, findings of the Rett Syndrome Natural History Study as it relates to puberty and menarche,
the role that hormones play with seizures, options
for management of menstruation, and the rights of all persons regardless of ability to receive healthcare. Target audience: Parents, caregivers, health care professionals and anyone who wants to learn more about this subject.



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