Forkhead Box Protein G1 (FOXG1) testing in congenital variant of Rett Syndrome

Record ID 32012000116
English
Authors' recommendations: Rett syndrome (RTT) is a pervasive neurodevelopmental disorder with variations in clinical presentations, including classic, preserved speech, early seizure, and congenital types. In the classic form, which is found almost exclusively in females, growth and development initially appear normal. Starting between 6 and 18 months of age, development and purposeful movement regress, and growth of head and brain slows. Compulsive hand motions are typical, as are breathing and gait abnormalities and small, cold hands and feet. Seizures, spasticity, and scoliosis are frequently noted. The congenital variant of RTT, which is found in both females and males, has been diagnosed in only a small number of cases of RTT. Congenital RTT is similar to classic RTT, but is characterized by earlier onset, in the first months of life. The symptoms associated with congenital RTT, such as developmental regression and psychomotor delay, are typically more severe than those exhibited with classic RTT. Congenital RTT has been associated with abnormalities in the forkhead box G1 (FOXG1) gene. FOXG1 is located on chromosome 14 and encodes a protein that plays an important role in the development of the forebrain. There is currently no cure for RTT. Treatment is supportive and consists of medication to address seizures, breathing abnormalities, and motor rigidity; monitoring for development of scoliosis and heart abnormalities; physical therapy; equipment such as braces and splints; and use of a feeding tube to maintain adequate nutrition and help prevent aspiration of food. Natural history information available specifically pertaining to individuals with FOXG1 variants is limited; however, other patients with RTT survive until their 20s or 40s. Death is typically due to seizures, aspiration pneumonia, malnutrition, or accidental causes.
Details
Project Status: Completed
Year Published: 2012
URL for published report: http://www.hayesinc.com/hayes/crd/?crd=13356
English language abstract: An English language summary is available
Publication Type: Not Assigned
Country: United States
MeSH Terms
  • Humans
  • Rett Syndrome
  • Language Development Disorders
  • Forkhead Transcription Factors
Contact
Organisation Name: HAYES, Inc.
Contact Address: 157 S. Broad Street, Suite 200, Lansdale, PA 19446, USA. Tel: 215 855 0615; Fax: 215 855 5218
Contact Name: saleinfo@hayesinc.com
Contact Email: saleinfo@hayesinc.com
Copyright: 2011 Winifred S. Hayes, Inc
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