Rett Syndrome - Epidemiology Forecast - 2034

Key Highlights

Rett syndrome is a rare neurodevelopmental condition that affects almost all areas of functioning, leading to severe challenges in communication, mobility, feeding, and breathing. This disorder is primarily caused by mutations in the MECP2 gene.

Rett syndrome occurs in two forms: the classic (typical) type, characterized by normal early development followed by regression with loss of motor and communication skills, and the variant (atypical) type, which presents with milder or variable features and delayed or atypical progression.

Symptoms may appear as early as 6 months of age, when parents notice missed developmental milestones and the loss of previously acquired skills.

Rett syndrome diagnosis is mainly clinical, based on regression, loss of hand use with stereotypies, and neurological or systemic features, with MECP2 testing providing supportive but not definitive evidence. Atypical forms may involve other genes such as CDKL5 or FOXG1.

Rett syndrome prognosis is influenced by the underlying MECP2 mutation, clinical severity, and associated complications.

In 2024, the 7MM reported close to 23,000 diagnosed prevalent cases of Rett Syndrome, underscoring the considerable impact of this rare neurodevelopmental disorder across these regions.

DelveInsight’s “Rett Syndrome– Epidemiology Forecast – 2034” report delivers an in-depth understanding of Rett Syndrome, historical and forecasted epidemiology of Rett syndrome in the United States, EU4 (Germany, France, Italy, and Spain) and the United Kingdom, and Japan.

Geography Covered

The United States

EU4 (Germany, France, Italy, and Spain) and the United Kingdom

Japan

Study Period: 2020–2034

Rett Syndrome Understanding

Rett Syndrome Overview

Rett syndrome is a rare neurodevelopmental disorder in which children develop normally at first, but later lose previously gained skills. The condition is mainly associated with mutations in the MECP2 gene and is classified into classic (typical) and variant (atypical) forms.

Rett syndrome predominantly affects females and typically presents after 7–18 months of normal development, when children begin to lose acquired skills such as purposeful hand use and communication. This regression is often accompanied by impaired motor control, repetitive hand movements, slowed head growth, autistic-like behaviors, breathing abnormalities, feeding difficulties, growth impairment, and seizures. Most cases are caused by MECP2 mutations on the X-chromosome, with severity varying widely depending on the mutation and X-chromosome inactivation, leading to diverse clinical outcomes even among individuals with the same mutation.

Rett Syndrome Diagnosis

Rett syndrome is diagnosed primarily through clinical observation of developmental regression, loss of purposeful hand use with stereotypic movements, and neurological or systemic features such as seizures and breathing abnormalities, with ongoing evaluations to track progression. Genetic testing, mainly for MECP2 mutations (and CDKL5 or FOXG1 in atypical cases), supports but does not replace clinical diagnosis, while specialized assessment tools help quantify motor, behavioral, and functional impairments.

Further details related to diagnosis are provided in the report…

Rett Syndrome Epidemiology

For the purpose of designing the patient-based model for Rett Syndrome, the report provides historical as well as forecasted epidemiology segmented by: diagnosed prevalent cases of Rett syndrome, gender-specific cases of Rett syndrome, age-specific cases of Rett syndrome, type-specific cases of Rett syndrome, clinical manifestation-specific cases of Rett syndrome, and mutation-specific cases of Rett syndrome, in the 7MM covering the United States, EU4 countries (Germany, France, Italy, and Spain) and the United Kingdom, and Japan, from 2020 to 2034.

In 2024, the United States reported an estimated 12,000 diagnosed prevalent cases of Rett Syndrome.

In 2024, type-specific analysis of Rett syndrome in the EU4 and the UK showed that classic/typical cases accounted for nearly 85% of the diagnosed population, while variant/atypical forms represented the remaining 15%, highlighting the clear predominance of the classic subtype.

In 2024, females accounted for approximately 90% of Rett Syndrome cases in the United States, while males comprised around 10%.

In 2024, about 40% of Rett Syndrome cases in Japan were in the non-adult population (under 18 years), while adults (18 years and older) accounted for roughly 60% of cases.

KOL Views

To gaze into the epidemiology insights of the real world, we take KOLs and SMEs’ opinions working in the domain through primary research to fill the data gaps and validate our secondary research on disease prevalence.

DelveInsight’s analysts connected with 25+ KOLs to gather insights; however, interviews were conducted with 10+ KOLs in the 7MM. Centers such as the Rutgers University, Baylor College of Medicine, University of Bonn, University of Siena, and others were contacted. Their opinion helps understand and validate current disease prevalence, gender involved with the disease, diagnosis rate, and diagnostic criteria.

As per the KOLs from the US, Rett syndrome typically presents with an initial period of seemingly normal development during early infancy, after which children experience regression marked by the loss of purposeful hand use, impaired mobility, difficulties with balance and coordination, along with progressive decline in speech and social engagement, profoundly altering developmental trajectory.

As per the KOLs from Spain, Rett syndrome stands as one of the most recognized neurodevelopmental disorders in girls after Down syndrome, stemming from mutations on the X chromosome. The condition predominantly affects females, as males carrying such mutations often experience prenatal lethality. This genetic foundation underscores its distinct inheritance pattern and highlights its significance within pediatric neurology.

As per the KOLs from Japan, The absence of recent epidemiological studies on Rett syndrome creates a significant gap in understanding its true prevalence and distribution. Without updated data, effective resource allocation and informed policy planning for this rare neurodevelopmental disorder remain limited.

Scope of the Report

The report covers a segment of executive summary, descriptive overview of Rett syndrome, explaining its causes, signs and symptoms, and currently available diagnostic algorithms and guidelines.

Comprehensive insight has been provided into the epidemiology segments and forecasts, the future growth potential of diagnosis rate, disease progression, and diagnosis guidelines.

The report provides an edge for understanding trends, expert insights/KOL views, and patient journeys in the 7MM.

A detailed review of current challenges in establishing the diagnosis.

Rett Syndrome Report Insights

Patient Population

Country-wise Epidemiology Distribution

Total Diagnosed Prevalent Cases of Rett syndrome

Gender-specific Cases of Rett syndrome

Age-specific Diagnosed Prevalent Cases of Rett syndrome

Type-specific Diagnosed Prevalent Cases of Rett syndrome

Clinical Manifestation-specific cases of Rett syndrome

Mutation-specific Cases of Rett Syndrome

Rett Syndrome Report Key Strengths

10 years Forecast

The 7MM Coverage

Rett Syndrome Epidemiology Segmentation

Rett Syndrome Report Assessment

Current Diagnostic Practices Patient Segmentation

Epidemiology Insights

What are the disease risk, burdens, and unmet needs of Rett syndrome? What will be the growth opportunities across the 7MM concerning the patient population of Rett syndrome?

What is the historical and forecasted Rett syndrome patient pool in the United States, EU4 (Germany, France, Italy, and Spain) and the United Kingdom, and Japan?

Why is the diagnosed incidence cases of Rett syndrome in Japan lower than the US?

Which country has a high patient share for Rett syndrome?

Reasons to Buy

Insights on patient burden/disease, evolution in diagnosis, and factors contributing to the change in the epidemiology of the disease during the forecast years.

To understand the Rett syndrome prevalence cases in varying geographies over the coming years.

A detailed overview of diagnosed prevalent cases of Rett syndrome, gender-specific cases of Rett syndrome, age-specific cases of Rett syndrome, type-specific cases of Rett syndrome, clinical manifestation-specific cases of Rett syndrome, and mutation-specific cases of Rett syndrome based on diagnostic imaging modality and regional population differences, since variations in imaging sensitivity and demographic factors substantially influence detection rates.

To understand the perspective of key opinion leaders around the current challenges with establishing the diagnosis options.

Detailed insights on various factors hampering disease diagnosis and other existing diagnostic challenges.

Frequently Asked Questions

1. What is the forecast period covered in the report?

The Rett syndrome epidemiology report for the 7MM covers the forecast period from 2025 to 2034, providing a projection of epidemiology dynamics and trends during this timeframe.

2. How is epidemiological data collected and analyzed for forecasting purposes?

Epidemiological data is collected through surveys, clinical studies, health records, and other sources. It is then analyzed to calculate disease rates, identify trends, and project future disease burdens using mathematical models. Show more