Understanding Rett Syndrome

Receiving the unexpected diagnosis that your child has Rett Syndrome can leave you overwhelmed with questions and in desperate need of reliable information. This guide was created to provide you with a better understanding of Rett Syndrome, the causes, the typical stages of development, and the multidisciplinary approaches that can significantly improve your child’s quality of life. Our goal is to empower you with knowledge, practical steps, and support as you begin your journey.

What is Rett Syndrome?

Rett Syndrome is a rare genetic neurological and developmental disorder. It is characterized by a period of apparently normal development in early infancy, followed by a slowdown of progress and then a regression, particularly in motor skills and speech. One of the most challenging aspects for families is witnessing this change. A child who was meeting milestones may begin to lose skills they once had. It is important to remember that this regression is a hallmark of the condition and not a reflection of your child’s potential or your parenting.

The Genetic Cause

Rett Syndrome is most often caused by a spontaneous mutation in the MECP2 gene, which is located on the X chromosome. This gene plays a vital role in brain development by producing a protein that is crucial for the function of mature nerve cells. When the MECP2 gene is mutated, this protein is either faulty or not produced in sufficient amounts, disrupting the normal development and function of the brain.

Because girls have two X chromosomes, they can often survive with one mutated copy of the gene, as the other healthy copy can still produce some of the necessary protein. Boys who have this mutation are typically affected much more severely, as they only have one X chromosome, and sadly, most do not survive past infancy.

The Stages and Symptoms

The journey with Rett Syndrome is often described in stages, reflecting the changes in a child’s abilities over time. While every child’s path is unique, understanding these general stages can help families anticipate changes and prepare.

Stage 1: Early Onset (6 to 18 months)

In the first stage, a baby’s development may seem to slow down. Parents might notice subtle signs, such as less eye contact, reduced interest in toys, or delays in gross motor skills like sitting or crawling. Head growth may also begin to slow. These early signs can be easy to miss, and many families feel they only make sense in hindsight.

Stage 2: The Regression or “Rapid Destructive” Stage (1 to 4 years)

This is often the most difficult stage for families. During this period, the child begins to lose previously acquired skills. This can happen quickly or gradually. The most noticeable losses are purposeful hand use and spoken language.

A defining characteristic of Rett Syndrome emerges during this stage: repetitive, involuntary hand movements. These can include hand-wringing, squeezing, clapping, or mouthing. Children may also experience breathing irregularities, such as holding their breath or hyperventilating. It is a period of significant change, but it’s also where the foundation for future support begins.

Stage 3: The Plateau or “Pseudo-Stationary” Stage (2 to 10 years)

After the regression, children often enter a plateau phase that can last for many years. While motor problems and apraxia (the inability to perform purposeful movements) persist, some improvements may be seen in other areas. A child’s mood, attention span, and communication skills may improve. Many girls remain in this stage for most of their lives, making it a critical time for building skills and establishing routines that support a high quality of life.

Stage 4: Late Motor Deterioration Stage (10+ years)

This stage can begin anytime after age 10 and is characterized by reduced mobility. Muscle weakness, rigidity, and scoliosis (curvature of the spine) can become more pronounced. However, cognition, communication, and hand skills generally do not decline further. With the right support, individuals can maintain their level of engagement and connection.

Key Challenges

Living with Rett Syndrome presents a unique set of challenges. At the core of our approach is the belief that every child can learn and make progress with the right individualized support.

• Apraxia and Loss of Purposeful Hand Use: Apraxia is a core feature, making it incredibly difficult for children to control their body movements. This affects everything from walking and talking to using their hands. Our therapeutic approach focuses on adaptive strategies and assistive technology to help your child communicate.
• Communication Difficulties: Though many individuals with Rett Syndrome lose the ability to speak, their receptive language (understanding) is often much stronger than their expressive language (speaking). We use a total communication approach, incorporating eye-gaze technology, picture exchange systems (PECS), and other forms of augmentative and alternative communication (AAC) to give your child a voice.
• Severe Cognitive Impairment: It was once believed that individuals with Rett Syndrome had severe intellectual disabilities. However, we now understand that their cognitive abilities are often masked by apraxia. Our individualized educational plans are designed to unlock your child’s learning potential, focusing on their unique strengths.
• Physical and Medical Needs: Seizures, scoliosis, breathing issues, and digestive problems are common. These require careful medical management and consistent therapeutic support.

The Power of a Multidisciplinary Team

There is no cure for Rett Syndrome, but a comprehensive, integrated approach can make a world of difference. We believe in partnering with families to create a seamless support system that addresses the whole child. Effective management involves a team of specialists working together:

• Physical Therapy (PT): Focuses on improving mobility, balance, and strength. PT helps manage scoliosis and joint stiffness, preserving mobility for as long as possible.
• Occupational Therapy (OT): Helps children develop skills for daily living. A key focus is on finding ways to use their hands more purposefully, even with apraxia, and adapting tasks to promote independence.
• Speech-Language Pathology (SLP): Our speech therapists are experts in AAC and PECS. They work to find the best communication system for your unique child, empowering them to express their wants, needs, and personality.
• Social Work (SW) and Behavioral Support (ABA): We provide emotional and behavioral support for the child, helping manage anxiety and challenging behaviors while building positive social interactions.

Comparing Rett Syndrome to Other Cognitive Disorders

When families first begin seeking answers for their child’s developmental differences, terms like Down Syndrome and other cognitive disorders often come up alongside Rett Syndrome. While there are similarities, including challenges with learning and communication, the causes, symptoms, and progression of these conditions are distinct—and understanding these differences can be reassuring as you navigate care options.

Rett Syndrome is caused by a specific genetic mutation on the X chromosome (the MECP2 gene), leading primarily to motor skill regression and speech loss after a period of typical development. In contrast, Down Syndrome is a chromosomal condition resulting from an extra copy of chromosome 21, present from birth, and is characterized by very individualized learning profiles, distinct physical features, and steady—but generally not regressive—development.

Other cognitive or neurodevelopmental disorders, such as Autism Spectrum Disorder (ASD) or Cerebral Palsy, each have their own unique origins and symptom patterns. For example, while some children with ASD may lose previously acquired skills (regression), others do not, and communication challenges can look very different from those seen in Rett Syndrome. Cerebral Palsy primarily impacts motor functions due to brain injury, not genetic mutations, and does not typically involve loss of skills after a period of normal development.

Recognizing these differences is important, and individualized approaches are essential to nurturing your child’s strengths and meeting their specific needs as they grow.

Raising Awareness

Every October, we come together as a global community for Rett Syndrome Awareness Month, a time dedicated to increasing understanding, supporting ongoing research, and honoring the resilience of individuals and families facing this rare neurological disorder. Mark your calendars for October 17–19, which is celebrated as the special “Go Purple” weekend by the International Rett Syndrome Foundation (IRSF).

October 17–19: “Go Purple” Weekend

During this dedicated weekend, you and your family can help amplify the message by:

• Wearing purple at school, work, or out in the community
• Lighting up your home or local buildings in purple
• Sharing stories, photos, and educational posts on social media with hashtags like #RettSyndromeAwareness and #GoPurple
• Organizing or joining events and fundraisers that support research and family resources

As the IRSF reminds us, there is no single “right” way to get involved. Whether you share your family’s journey, support a fundraiser, or simply start a conversation, you are making a meaningful difference and helping foster greater understanding.

Hope and Progress

While a Rett Syndrome diagnosis presents significant challenges, it is also a journey filled with love, resilience, and profound connection. Research is constantly advancing our understanding of the MECP2 gene, with promising developments in gene therapy and targeted treatments on the horizon. This research offers real, tangible hope for a future with even more effective therapies.

Today, we know more than ever about how to support individuals with Rett Syndrome. Through dedicated, individualized therapy and education, your child can lead a life filled with joy, connection, and continued progress. Your family’s journey is unique, and we are here to partner with you every step of the way, providing expert care and empathetic support as we work together to unlock your child’s full potential.