CLINICAL AND LABORATORY ANALYSIS OF THE RETT SYNDROME: REPORT OF 20 CASES

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BARZEGAR MOHAMMAD; SHOARAN MARYAM

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Title

CLINICAL AND LABORATORY ANALYSIS OF THE RETT SYNDROME: REPORT OF 20 CASES

Author(s)

BARZEGAR MOHAMMAD | SHOARAN MARYAM | Issue Writer Certificate

Keywords

RETT SYNDROMEQ3

NEURODEGENERATIVEQ3

CLINICALQ2

AUTISTIC BEHAVIORQ3

Abstract

Background and Objectives: RETT SYNDROME (RS) is a rare progressive NEURODEGENERATIVE disorder characterized by: exclusive occurrence in females, AUTISTIC BEHAVIOR, dementia, loss of purposeful use of hands, stereotypic hand movement, and seizures. Diagnosis of RS is based on CLINICAL criteria. It should be differentiated from idiopathic mental retardation, cerebral palsy and autism.Materials and Methods: In this report twenty female children, who fulfilled the CLINICAL criteria of classic RETT SYNDROME and who were referred to our child-neurology department between 2003-2008, were studied. Genetic studies were not available in our center.Results: Patients' age, age of diagnosis and age of disease onset were: (4.75±3.17) years, (3.90±2.36) years and (10.95±3.52) months respectively. There was a significant delay between the presumptive ages of onset and age of diagnosis, only 1 (5%) of patients was properly diagnosed before referring to our department. CLINICAL characteristics of our patients were: normal development until age 6 months (90%), loss of hand skills (100%), hand stereotypes (95%), breathing irregularities (30%), electroencephalogram abnormalities (100%), seizure (70%), autistic features (100%) and teeth grinding (50%).Family history was negative in all patients.Conclusion: RETT SYNDROME is an under-diagnosed entity in our country, being familiarity with its manifestation and maintaining high index of suspicion is necessary for early diagnosis.

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APA: Copy

BARZEGAR, MOHAMMAD, & SHOARAN, MARYAM. (2010). CLINICAL AND LABORATORY ANALYSIS OF THE RETT SYNDROME: REPORT OF 20 CASES. MEDICAL JOURNAL OF TABRIZ UNIVERSITY OF MEDICAL SCIENCES, 32(5), 20-24. SID. https://sid.ir/paper/47114/en

Vancouver: Copy

BARZEGAR MOHAMMAD, SHOARAN MARYAM. CLINICAL AND LABORATORY ANALYSIS OF THE RETT SYNDROME: REPORT OF 20 CASES. MEDICAL JOURNAL OF TABRIZ UNIVERSITY OF MEDICAL SCIENCES[Internet]. 2010;32(5):20-24. Available from: https://sid.ir/paper/47114/en

IEEE: Copy

MOHAMMAD BARZEGAR, and MARYAM SHOARAN, “CLINICAL AND LABORATORY ANALYSIS OF THE RETT SYNDROME: REPORT OF 20 CASES,” MEDICAL JOURNAL OF TABRIZ UNIVERSITY OF MEDICAL SCIENCES, vol. 32, no. 5, pp. 20–24, 2010, [Online]. Available: https://sid.ir/paper/47114/en

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