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Understanding, Recognizing, and Treating Rett Syndrome
1Oregon Health Sciences University in Portland, Ore.
Insights
Rett syndrome (RS) is a neurodevelopmental disorder affecting females, characterized by developmental regression and unique hand movements. Genetic factors are strongly implicated, though the exact cause remains unknown in most cases.
Area of Science:
- Neuroscience
- Genetics
- Developmental Biology
Background:
- Rett syndrome (RS) is a neurodevelopmental disorder, not a neurodegenerative disease.
- It primarily affects females worldwide, beginning in late infancy.
- RS presents with autistic behaviors, ataxia, and purposeless hand movements.
Purpose of the Study:
- To describe the unique characteristics of Rett syndrome.
- To highlight the diagnostic criteria and differential diagnosis.
- To outline the comprehensive management approach for RS.
Main Methods:
- Clinical observation and case history analysis.
- Differential diagnosis by exclusion of similar neurological and genetic disorders.
- Review of diagnostic indicators such as head growth deceleration and neurological regression.
Main Results:
- Rett syndrome is characterized by a distinct period of neurological deterioration followed by stabilization.
- Diagnostic support includes head growth deceleration, neurologic regression, and hand stereotypies.
- Over 90% of cases have unknown causes, but genetic factors are strongly suspected.
Conclusions:
- Rett syndrome is a unique neurodevelopmental disorder with a specific clinical profile.
- Accurate diagnosis requires differentiating it from other neurodevelopmental and genetic conditions.
- Multidisciplinary management is essential for affected individuals.
Abstract:
Formerly thought to be a neurodegenerative disease, Rett syndrome (RS) is a neurodevelopmental arrest of the brain that almost exclusively affects females and occurs in a variety of racial and ethnic groups worldwide. RS begins in late infancy and is characterized by autistic and dementia-like behavior, ataxia, and purposeless hand movements. Its cause and mode of transmission are unknown in over 90% of cases; however, there is strong and convincing evidence that genetic factors play a major role. The reported incidence varies, but in the US, as many as one quarter to one third of female children in mental wards/institutions may be affected. RS has been mistaken for numerous other conditions, including autism, cerebral palsy, and mental retardation, but the clinical picture is unique: No other condition has a period of rapid deterioration followed by apparent stabilization or even improvement in autistic features, eye contact, seizure activity, and hand stereotypies. The diagnosis is supported by deceleration of head growth, evidence of neurologic regression with associated neurologic signs, and purposeless hand stereotypies, with a clinical history of developmental regression. The differential diagnosis often involves ruling out syndromes with similar signs of neurodevelopmental arrest--for example, meningitis or encephalitis; chromosomal disorders such as Angelman's syndrome and Prader-Willi syndrome; metabolic disorders such as ornithine carbamoyltransferase deficiency; disorders of organic acids and amino acids; neurovisceral storage diseases; mitochondrial cytopathy; and Batten disease, or infantile neuronal ceroid lipofuscinosis. Management encompasses a comprehensive medical, therapeutic, educational, and psychosocial approach, best provided through a team in collaboration with the community agencies that serve families and children with special needs.