From the Guidelines
Rett syndrome is a rare genetic neurological disorder that primarily affects girls and is characterized by normal early development followed by a regression in skills, particularly affecting language, coordination, and purposeful hand movements, caused by mutations in the MECP2 gene on the X chromosome, as noted in the study by 1.
Key Characteristics of Rett Syndrome
- Normal early development followed by regression in skills
- Loss of speech and motor skills
- Repetitive hand movements (hand wringing, clapping, or washing movements)
- Breathing irregularities
- Sleep problems
- Seizures
- Growth delays
- Intellectual disability
Diagnosis and Treatment
The diagnosis of Rett syndrome is based on clinical features and genetic testing, with the MECP2 gene mutation being the primary cause, as recommended by 1. Treatment focuses on managing symptoms through:
- Medications for seizures (such as valproic acid, carbamazepine, or levetiracetam)
- Physical therapy to improve mobility
- Occupational therapy for daily living skills
- Speech therapy for communication
- Nutritional support
- Regular monitoring by a multidisciplinary team is essential as symptoms can change over time, as emphasized by 1.
Prognosis
Despite significant disabilities, many individuals with Rett syndrome live into adulthood with appropriate supportive care, highlighting the importance of early diagnosis and intervention, as noted in the study by 1.
Important Considerations
- Genetic testing, including MECP2 mutation testing, is crucial for diagnosis, as recommended by 1.
- A multidisciplinary approach to care is essential for managing symptoms and improving quality of life, as emphasized by 1.
From the Research
Definition and Characteristics of Rett Syndrome
- Rett syndrome (RS) is a severe neurodevelopmental disorder that primarily affects females, with an incidence of 1:10000 female births 2.
- It is characterized by a period of normal development for the first 6-18 months, followed by the loss of fine and gross motor skills, social interaction, and the development of stereotypic hand movements 2, 3.
- The disorder can present in different forms, including classical, congenital, early onset seizure, preserved speech variant, and "forme fruste" 2.
Genetic Causes
- Mutations in the X-linked gene methyl-CpG-binding protein 2 (MECP2) are involved in most classical Rett syndrome patients 2, 4.
- Mutations in cyclin-dependent kinase like 5 (CDKL5) and FoxG1 genes have been identified in early onset seizure and congenital variants, respectively 2.
Clinical Features and Management
- Rett syndrome is characterized by severe cognitive, behavioral, and physical disabilities, with no known treatment beyond symptomatic management 5, 6.
- Management focuses on optimizing each patient's abilities, with a dynamic multidisciplinary approach that addresses epileptic and nonepileptic paroxysmal events, scoliosis, osteoporosis, and the development of effective communication strategies 2.
- Clinical trials are ongoing to develop neurobiologically-based treatments, with a focus on targeting general mechanisms and specific systems, such as growth factors and glutamate modulators 5.