Rett Syndrome

Abstract

We will provide a comprehensive literature review on the topic of Rett syndrome, a low-incidence brain disorder occurring almost exclusively in girls. We will identify the developmental stages as well as the communication, social-emotional, and life skills needs associated with the symptoms. We will also highlight the relevant assessment tools practitioners should use. Attendees will walk away with a set of best practices and resources around school, family, and community interventions.

Background

Rett syndrome is a rare non-inherited genetic neurological disorder that occurs primarily in girls and more rarely in boys. Children with Rett syndrome have severe impairments. These impairments affect every aspect of a child’s life. The first step in this journey begins with identifying trusted information. The information found here is reliable and current.

Rett syndrome is an X-linked, low-incidence, progressive neurodevelopmental disorder occurring almost exclusively in girls. It occurs in about 1 in 10,000 to 1 in 22,000 live female births (National Institutes of Health [NIH], 2014). It is the second leading cause of intellectual disabilities in females (Temudo, 2010; Isaias et al., 2014).

There is usually no family history of the disorder, and neither parent is a carrier (Chew & Lyon, 1989). Neuropathology and brain imaging research along with the clinical signs of the disorder point to a disruption in neuronal circuits. Studies demonstrate that individuals have an abnormal expression of a protein called MECP2 which appears during development in the process of synapse formation (Johnson et al., 2005; Lyst & Bird, 2015). MECP2 mutations are said to account for 90 to 95 percent of all cases of Rett syndrome (Killian et al., 2015).

Clinical features include “developmental regression, loss of acquired motor and language skills, acquiring of stereotyped hand movements, muscle hypotonia, autonomic dysfunctions, and severe cognitive impairment” (Feldman et al., 2015).

Developmental Features

Gestation and birth are usually uneventful for children with Rett syndrome. Furthermore, development follows the pattern of typical development until the first six months, followed by a developmental plateau, and later, a rapid regression in language and motor skills (NIH, 2014).

Overall, 80 to 90 percent of individuals with Rett syndrome are thought to have growth impairments. Individuals with Rett syndrome are born with a normal head circumference, but growth then decelerates from 5 months to 4 years. Individuals with Rett syndrome often experience breathing difficulties and vasomotor disturbances. Many have epleptic seizures as well.

Psychomotor development is normal for the first six months; during the second half of the child’s first year, psychomotor problems such as an inability to crawl or walk appear. Many children with Rett syndrome are never able to walk independently (Temudo, 2010). Children with Rett syndrome show an impairment in the temporal lobe related to anticipatory postural adjustment; in other words, these children experience a diminished impulse to move forward (Isaias, 2014). Additionally, at a median age of 10 months, individuals lose hand functions such as pincer grip and self-feeding skills and begin to develop hand stereotypies. In general, those with earlier regression are less likely to learn to walk and talk (Lee et al., 2014).

Children with Rett syndrome begin to lose their acquired speech and language skills at around 18 months and are described by their families as “going quiet” or getting “less vocal” (Lee et al., 2014). However, Marschik and colleagues (2014) explain that for individuals with Rett syndrome, there is a more typical profile for language development for children aged 9 to 24 months and also a preserved speech variant (PSV). In the typical profile, individuals show a pattern of significantly decreased vocalizations and gestures, while those with the PSV show a more stagnated pattern across the time period. Vocalizations and gestures are observed to perform functions of gaining attention or answering, but not making choices or requesting information. Nonverbal forms of communication (e.g. moving closer, reaching) are more common than vocationalizations (Bartl-Pokorny et al., 2013).

At a median age of 15 months, many girls with Rett experience social withdrawal and diminished eye contact, and many tend to have episodes of inconsolable crying. Some girls with Rett syndrome also struggle with sleep disturbances and vomiting (Lee et al., 2014).

Children with Rett syndrome tend to experience puberty earlier than the general population and reach menarche later than average (Killian et al., 2015). Studies on aging for people with Rett syndrome are scarce; in a 5-year longitudinal study, Halbach and colleagues (2013) found that an adult woman with RTT has a more or less stable condition involving a slow decline in gross motor functioning, stable cognitive functioning, less autonomic and epleptic symptoms and good general health.

Social-emotional Needs

Studies show children with Rett syndrome may have difficulty engaging in social behavior (e.g., Kaufmann et al., 2012). In this study, increased age was found to be associated with greater clinical severity, which in turn predicted lower levels of socialization.

However, this does not indicate that individuals with Rett syndrome do not desire socialization. Eye-tracking research on girls with Rett syndrome demonstrates a preference for social stimuli, which indicates a mismatch between their high preference for socialization and their difficulty in this area (Djukic & McDermott, 2012). When eye-tracking was used to show differences in preference for social versus non-social stimuli between children with Rett syndrome and children with autism spectrum disorder, the results showed a much stronger social preference for children with Rett syndrome (Schwartzman et al., 2015). Surprisingly, this study also showed that children with Rett syndrome also had a stronger social preference than younger typically developing children. However, since these groups were not age-matched, this difference may not exist for same-aged children in both groups as typically developing children may show increased social preference as they age, while children with Rett syndrome may show a decreased social preference.

Still, this research identifies the desire that children with Rett syndrome have to socialize. To address this need, it is important to create accommodating environments for children with Rett syndrome to engage in meaningful social interactions (Evans & Meyer, 2001). Naturalistic observations of a teenage girl with Rett syndrome showed that intentional noticing of attempts for social interaction and using these moments for social interaction, significantly aided in increasing socialization. This suggests that the focus should be on contriving opportunities for socializing by adjusting the environment, rather than focusing on teaching social skills to children with Rett syndrome. However, this research may not be generalizable and much further investigation is needed in this area.

Mental health concerns also need to be addressed for individuals with Rett syndrome, although the literature in this area is limited. Anxiety and mood disorders have been found to be more common depending on the specific mutation (e.g., fear and anxiety was found to be more common for those with the R133C and R306C mutations and mood disorder symptomatology was found to be more common for individuals with the R294X mutation; Robertson et al., 2006). Research is needed on how to best address these mental health needs for individuals with Rett syndrome.

communication needs

Severe dyspraxia and severe cognitive disability prevent children from regaining speech skills after they are lost during the regression phase of Rett syndrome (Koppenhaver et al., 2001). Although some may retain a few single words, simple phrases, or even sentences, most of them typically rely on gestures, vocalizations and body positioning to communicate with others (Koppenhaver et al., 2001). Woodyatt et al. (1992) found that these nonverbal communication behaviors exhibited by the subjects in their study were preintentional and concluded that it was essential for teachers, practitioners and caregivers to recognize potentially communicative nonverbal behaviors, distinguish between these behaviors and specific RS associated behaviors that are neurologically based, and try to determine the intent of these behaviors when responding to them (Woodyatt et al., 1993; Hetzroni et al., 2006).

Other than recognizing and responding to their existing communication skills, individuals working with girls with RS can help them acquire nonverbal or alternative communication modes through the following strategies: teaching new forms of communication (e.g., using graphic symbols or speech-generating devices), increasing specific communication functions (e.g., requesting or initiations for interaction), and increasing participation in communication interactions (e.g., being more attentive to their communicative partners; Sigafoos et al., 2009). Positive outcomes were reported in many studies using these strategies. For example, Koppenhaver et al. (2001) found six girls with RS used a wider range of communication modes and exhibited more labeling behavior in the interactions during storybook reading after researchers introduced strategies including resting hand splints, augmentative communication systems (ACS) such as voice-output devices and symbols, and basic parent training on how to interpret the girls’ communicative attempts, create communicative opportunities for them, and evoke the use of ACS with various prompts. Elefant and colleagues (2004) reported that a subject’s communication choice making abilities were improved from being unable to choose objects to choosing from symbols as a result of the dual treatment program of music and physical therapy. Additionally, Van Acker and colleagues (1995) reported that after being trained to touch a dynamic symbol on a computer screen to request food and drink, all 3 subjects were able to discriminate the preferred items above chance levels when given opportunities to differentially request preferred versus non-preferred foods.

life-skillS Needs

There are also life skills needs related to the symptoms of Rett syndrome. Given difficulties with mobility (Temundo, 2010) and the potential need to use a wheelchair, there is a risk of illnesses related to living a sedentary lifestyle (US DHHS, 1996), such as coronary artery disease and stroke. Thus, one area of need is fitness programming (Lotan et al., 2004). Lotan and colleagues found that a treadmill exercise program for girls with Rett syndrome was effective for improving both physical fitness and functional abilities (e.g., ability to move up and down stairs).

Individuals with Rett syndrome also benefit from programs addressing functional hand use and self-feeding skills. In Piazza and colleagues’ (1993) research, self-feeding was considered to be a starting point for improving functional hand use as caregivers indicated this need, food provides reinforcement, and teaching this skill can center around meal times and increase family interaction. Bumin and colleagues (2003) also increased self-feeding and functional hand use in their case study of an 11-year-old girl with a hydrotherapy intervention in a swimming pool. More research is needed to expand on these studies to examine the mechanisms of addressing life skill areas of need for children with Rett syndrome.

Assessment

The main criteria for Rett syndrome are 1) partial or complete loss of acquired purposeful hand skills, 2) partial or complete loss of acquired spoken language, 3) gait abnormalities: impaired or absence of ability to walk, and 4) hand wringing/squeezing/clapping/tapping, mouthing, and washing/rubbing uncontrollably (rettsyndrome.org). Academic and cognitive assessments may be challenging due to both motor and communication impairments. Specific assessments for Rett syndrome have been created to identify a behavioral profile, clinical severity, and level of impairment. Other existing assessments are used to identify specific skill deficits that would benefit from intervention, including communication and motor coordination.

Rett Functional Evaluation Scale and the Rett Syndrome Gross Motor Scale

Lotan and colleagues (2012) used the Rett Functional Evaluation Scale (RFES) and the Rett Syndrome Gross Motor Scale (RSGMS) to examine some of the common motor functions associated with Rett syndrome. The RFES assesses broad motor functioning, specifically upright abilities ranging from kneeling to walking including the ability to sustain a position and the distance covered. The RSGMS examines the assistance required to perform gross motor skills. Both assessment tools could decipher between varying levels of clinical severity and motor impairment (Roidi et al., 2019). Fabio and colleagues (2014) used The Rett Assessment Rating Scale (RARS), which is closely related to the Childhood Autism Rating Scale (CARS), the Gilliam Autism Rating Scale (GARS), and the Asperger Syndrome Diagnostic Scale (ASDS), to decipher between the many different forms of Rett syndrome. Similar to the RFES and the RSGMS, this scale is used to determine the degree of severity as well as a behavioral profile associated with this specific mutation of Rett syndrome.

Other researchers are leveraging pre-existing tools typically used with other motor and communication disorders to assess children with Rett syndrome. Vignoli and colleagues (2010) used both the RARS and the Vineland Adaptive Behavior Scales (VABS) to assess varying symptoms associated with RS. The VABS can be included to look at different domains: communication, daily living, socialization, play, and motor skills. For example, Titlestad and Eldevik (2019) used the VABS and the Assessment of Basic Language and Learning Skills-Revised (ABLLSR) to assess the effectiveness of their behavioral intervention, specifically targeting motor function, daily living, socialization, and communication.

Observation and informal interviews with parents and teachers are also effective tools of assessment when working with a child with Rett syndrome. An observation of classroom activities ranging from free play to structured scaffolded learning can offer a wealth of insight into a child’s academic skills let alone their basic daily functioning. An interview with parents and teachers can shed light on factors, including a child’s motivation and alternate forms of communication, that might not be self-evident upon first glance. Children with Rett syndrome have typically struggled to interface with the world around them due to these extreme motor and communicative impairments. Uncovering true skill sets while providing challenging environments may offer a new perspective for both child and caregiver alike that involves a more engaged life with opportunities for learning, academic success, and employment.

School-Based Interventions

Rett syndrome leads to severe impairments often impacting most to all aspects of life ranging from ability to speak, walk, eat, and breathe (rettsyndrome.org). These deficits can be felt by a child in a variety of ways – a loss of independence, control over one’s environment, and communication with the environment around you. Therefore, the interventions for a child with Rett syndrome typically focus on very basic functioning. With certain interventions, a child with Rett syndrome is often then able to communicate with their loved ones, make choices that might not have been possible before, and constructively engage with the world around them (Stasolla et al., 2015).

Assistive technology is crucial in empowering a child with Rett syndrome on basic communication and mobility. Twenty years ago, computer-based interactive symbol identification was a significant step promoting better communication. Hetzroni and colleagues (2002) found children with Rett syndrome were able to learn the meaning of a variety of different symbols which could then be used in other generalized settings by programming a computer with these symbols. These researchers focused specifically on different modes of selection – using eye-gaze, body posture, and nose and head movements. For a population that struggles with basic motor coordination, a child pointing to a symbol or using a switch might be a high expectation. However, a child with the use of these other modes of selection can now better make selections and communicate externally.

Augmentative and alternative communication devices have also improved communication skills. Bartolotta and colleagues (2011) examined the use of eye gaze systems to circumvent motor coordination issues. With electronic eye gaze systems digital technology, eye blinks became a tool to communicate externally. These eye blinks bypassed a deficit in motor coordination which prohibited consistent communication thus augmenting communication capability.

Basic computer-based interactive symbol identification and eye-gaze systems have been upgraded to a picture exchange communication system (PECS), including sensors, photocells, and a personal computer with personalized interfaces (Stasolla et al., 2014). Through PECS, a child learns to use picture symbols to communicate, starting with basic one-word responses building to basic phrases. The authors also discussed the effectiveness of vocal output communication aids (VOCA). The VOCA generates speech that would coincide with basic nonverbal commands. A child with Rett syndrome could now use this picture system and this vocal output to communicate better with their families, their educators, and the environment around them. Stasolla and colleagues found these technological advances improved adaptive responses, which led to improving self-control of their environmental stimuli by acknowledging preferred stimuli. With more say and choice, happiness increased and opportunities to constructively engage socially, academically, and occupationally should likely avail themselves. With these advances, a frustrated child with Rett syndrome who was isolating and engaging in misunderstood stereotyped behaviors could now develop basic communication skills.

Technology is not the only intervention for a child with Rett syndrome. A study in Israel focused on using conductive education, which is typically used with children with motor disorders, to improve gross motor functions. Lotan and colleagues (2012) found that they could promote better engagement by adjusting learning opportunities and processes, improving motivation, and practicing goal directed activities. A teacher and child created a partnership that would facilitate a strong learning environment for active participation. By creating routines and a safe nurturing environment for all types of activities from learning activities to play to potty training with consistent mediation, learning could occur. This study highlighted an educational method that improved gross motor function.

There is growing evidence that early behavioral interventions are successful for young children with Rett syndrome. Titlestad and Eldevik (2019) researched the effectiveness of a behavioral intervention on twins with Rett syndrome across communication, daily living skills, socialization, and motor skills. After an extensive intervention period, 18 months of 30-35 hours per week, the researchers found improvements in communication and self-help. These improvements seemed to offset known regressions that tend to occur with Rett syndrome but were not on par with same-aged peers.

Medical and alternative interventions

There is no medical or pharmaceutical cure specifically for Rett syndrome. However, medications or surgeries can be used to treat symptoms associated with Rett syndrome. For example, lamotrigine (LTG), sodium valproate (VPA) and carbamazepine (CBZ) can be used as drugs of first choice to treat epilepsy (Pintaudi, 2015). The use of bisphosphonates is recommended if individuals with Rett syndrome meet the International Society for Clinical Densitometry criterion for osteoporosis in children (Jefferson et al., 2016). L-carnitine may be effective to treat mitochondrial carnitine deficiency (Plioplys et al., 1993). Antireflux agents can help treat gastroesophageal reflux (GER).

Sedative-hypnotic agents can help treat sleep disturbances. Propranolol is used to reduce autonomic tone although caution should be used as paradoxical hypertension is possible (Medscape, 2020). Treatment such as scoliosis surgery can benefit their sitting posture, chest episodes, and digestion of food (Kerr et al., 2003). Besides medications and surgical treatment, many alternative interventions such as animal assisted therapy, music therapy, massage therapy, and hydrotherapy may also help children with RS more actively engage in movement and social and recreational enrichment (Mayo Clinic; Pizzamiglio, 2008).

Agencies

Launched to fund research toward a cure for Rett Syndrome and related MECP2 disorders.

Works to accelerate full spectrum research to cure Rett syndrome and empower families with information, knowledge, and connectivity.

Focuses on advocacy and raising awareness about Rett syndrome.

To empower and support families affected by Rett Syndrome.

To educate and enrich the lives of those with Rett Syndrome as well as those who teach and support them.

To help eradicate the disorder through research targeted donor outreach.

Family Resources

National

National, non-profit organization committed to helping individuals with disabilities, their families, and the professionals who serve them.

Promotes and protects the human rights of people with intellectual and developmental disabilities and actively supports their full inclusion and participation in the community throughout their lifetimes.

Provides practical advice, emotional support and the most up-to-date educational information for families of children and adults with disabilities and special healthcare needs as well as to the physicians, allied healthcare professionals and educated professionals who are involved in their care and development.

LOCAL

The Dream Factory

Largest children’s wish-granting organization that does not limit its mission to children who have life-threatening illness.

Biobanking of Rett Syndrome and Related Disorders

Goal is to advance understanding of the natural history of Rett syndrome (RTT), RTT-related disorders including CDKL5, FOXG1, and individuals with MECP2 mutations who do not have RTT.

Special Kids Network

Helps children with special health care needs and disabilities get the services and support they require in order to develop to their full potential.

Provide information on health care services and offer service coordination.

8 regional coordinators work in communities to identify service gaps and address the unique challenges of service systems.

Children's Hospital of Philadelphia

Has pediatric neurologists with advanced training and experience in treating the full spectrum of pediatric neurologic disorders.

Bibliotherapy

The Rett Syndrome by Kathy Hunter

Everything you ever wanted to know about Rett Syndrome and more from the best experts.

Living Like Livvy: A Mother’s Story About the Girl Who Refused to be Defined by Rett Syndrome by Andre Govier

This is a story of a little girl with an attitude, a mother's fight to get a correct diagnosis and support.

This is a book about ability - every child has potential and Sara maximizes the quality of each day of Livvy's life.

Understanding Rett Syndrome: A Practical Guide for Parents, Teachers, and Therapists by Barbo Lindberg

Describes the difficulties and challenges of girls and women with Rett Syndrome and proposes solutions that can help them in everyday life.

Just Like Me by Sarah Rose

An Educational Coloring Book About Rett Syndrome

Rett Syndrome: Therapeutic Intervention by Mier Lotan & Joav Merrick

This book examines the history of Rett Syndrome, as well as the considerable research being conducted in this particular field including a study which presents the reversal of Rett Syndrome signs in a mouse model in the laboratory of Adrian Birds.

Jocelyn’s Journey by Elizabeth Jones

The book shares the overwhelming journey and experience of Elizabeth caring for Jocelyn, who was diagnosed with Rett syndrome and how they overcame hurdles and found faith through adversity as a family.

Rett Syndrome (Clinics in Developmental Medicine) by Walter Kaufman

Aimed at clinicians and researchers. Presents a comprehensive overview of the disorder and examines the areas where gaps in knowledge are most significant.

Intended to be a guide for initial examination and in-depth study of the disorder.

Allows physicians approaching the disorder for the first time and a valuable reference resource for the specialist or researcher.

Keeping Katherine: A Mother's Journey to Acceptance by Susan Zimmermann

Tells the story of Susan Zimmermann’s life with her daughter Katherine, who has Rett syndrome.

Zimmermann chronicles her personal journey to accept the changed dynamic of her family; the strain of caring for a special needs child and the pressure it placed on her marriage, career, and relationship with her parents and the altered reality of her daughter's future.

Your Daughter Has Been Diagnosed with Rett Syndrome by Kim Isaac Greenblatt

For parents who just received a diagnosis of Rett Syndrome, their relatives, concerned friends and interested medical professionals.

The book explains firsthand reactions to the initial diagnosis as well as some coping mechanisms and suggestions for life strategies.

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