How is Rett Syndrome diagnosed?

Rett Syndrome is a rare genetic disorder that primarily affects girls and leads to severe physical and cognitive impairments. Diagnosing Rett Syndrome can be a complex process that involves a combination of clinical evaluation, medical history analysis, genetic testing, and the exclusion of other similar conditions.

Clinical Evaluation

The first step in diagnosing Rett Syndrome is a thorough clinical evaluation by a healthcare professional experienced in neurodevelopmental disorders. The evaluation typically includes a detailed examination of the child's medical history, developmental milestones, and current symptoms. The healthcare provider will assess various aspects such as motor skills, language development, social interaction, and behavior patterns.

Diagnostic Criteria

The diagnosis of Rett Syndrome is based on specific diagnostic criteria established by the American Academy of Pediatrics. These criteria include:

• Normal development during the first six months of life: Infants with Rett Syndrome usually show typical development in the early months.


• Loss of purposeful hand skills: A significant regression in hand skills is observed, such as the ability to grasp objects or purposefully use hands.


• Loss of spoken language: A loss of previously acquired spoken language or severe impairment in expressive language skills.


• Development of repetitive hand movements: The emergence of repetitive hand movements, such as hand-wringing, hand-washing, or hand mouthing.


• Loss of social engagement: A decrease in social interaction and withdrawal from previously enjoyed social activities.


• Presence of characteristic gait abnormalities: The development of abnormal walking patterns, such as toe-walking or stiff-legged gait.

Genetic Testing

Once the clinical evaluation suggests the possibility of Rett Syndrome, genetic testing is typically performed to confirm the diagnosis. The most common genetic cause of Rett Syndrome is a mutation in the MECP2 gene, which can be identified through a genetic test. This test involves analyzing a blood sample to look for specific genetic changes or mutations in the MECP2 gene.

Exclusion of Other Conditions

Since Rett Syndrome shares some similarities with other neurodevelopmental disorders, it is crucial to exclude other potential causes before confirming the diagnosis. The healthcare provider may order additional tests or consultations with specialists to rule out conditions that may present with similar symptoms, such as autism spectrum disorder, cerebral palsy, or metabolic disorders.

Follow-Up and Monitoring

After a diagnosis of Rett Syndrome is made, regular follow-up appointments with healthcare professionals are essential to monitor the child's condition and manage symptoms. These appointments may involve assessments of physical abilities, cognitive function, communication skills, and behavior. Ongoing support and interventions can help improve the quality of life for individuals with Rett Syndrome and their families.

In conclusion, diagnosing Rett Syndrome involves a comprehensive approach that combines clinical evaluation, adherence to specific diagnostic criteria, genetic testing, and the exclusion of other similar conditions. Early diagnosis is crucial for accessing appropriate medical care, support services, and interventions that can positively impact the lives of individuals with Rett Syndrome.

by Diseasemaps