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| ID | Type | Description | Link |
|---|---|---|---|
| monteiro1 |
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| Name | Class |
|---|---|
| University of Sao Paulo | OTHER |
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The purpose of this study is to evaluate and determinate the functional abilities in Rett syndrome conforming to the established Pediatric Evaluation of Disability Inventory (PEDI).
Rett syndrome (RS) is a progressive neurological disturbance of genetic cause that affects females almost exclusively. It is caused by mutations, usually sporadic, of the MECP2 gene located in the X chromosome. In consequence to the serious cognitive and motor compromise, the RS patients have great difficulty in accomplishing day-to-day tasks. The objective of this work is to evaluate the functional abilities in RS to help therapists in theirs treatments programs.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| 64 | All Patients |
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Inclusion Criteria:
Exclusion Criteria:
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This study investigated only patients with Rett syndrome that matched the criteria for the classic form of the disease
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| Name | Affiliation | Role |
|---|---|---|
| Carlos BM Monteiro, PhD | Faculdades Metropolitanas Unidas | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Faculdades Metropolitanas Unidas | São Paulo | São Paulo | 04505-001 | Brazil |
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| Label | URL |
|---|---|
| alread published | View source |
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| ID | Term |
|---|---|
| D015518 | Rett Syndrome |
| D051346 | Mobility Limitation |
| ID | Term |
|---|---|
| D038901 | X-Linked Intellectual Disability |
| D008607 | Intellectual Disability |
| D019954 | Neurobehavioral Manifestations |
| D009461 | Neurologic Manifestations |
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| D009422 | Nervous System Diseases |
| D040181 | Genetic Diseases, X-Linked |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D020271 | Heredodegenerative Disorders, Nervous System |
| D012816 | Signs and Symptoms |
| D013568 | Pathological Conditions, Signs and Symptoms |