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1. |
Preamble to the workshop on rett syndrome |
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American Journal of Medical Genetics,
Volume 25,
Issue S1,
1986,
Page 1-20
Hugo W. Moser,
John M. Opitz,
James F. Reynolds,
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PDF (966KB)
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ISSN:0148-7299
DOI:10.1002/ajmg.1320250502
出版商:Wiley Subscription Services, Inc., A Wiley Company
年代:1986
数据来源: WILEY
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2. |
History and general overview |
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American Journal of Medical Genetics,
Volume 25,
Issue S1,
1986,
Page 21-25
Andreas Rett,
John M. Opitz,
James F. Reynolds,
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PDF (256KB)
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摘要:
AbstractThe syndrome under discussion probably has a much longer history than we know. The first description of 20 years ago noted only the similarities of behavior and neurological, psychological, and social symptoms of the affected patients. The publication by B. Hagberg in the US drew worldwide attention to the syndrome. Since the development of the child proceeds unremarkably during the first year of life parents find it particularly difficult to understand and to cope with the subsequent arrest of motor, language and intellectual development. The present lack of a causally effective treatment does not relieve us from the task to do all we can to preserve existing capabilities and functions. Experience tells us that the gaze of the affected children, which seems very intense and is accompanied by hypomimia or amimia, is the focus of any possibility for social contact. Parents often report on their visual contact with the child which should spur greater efforts to work on that phenomenon.
ISSN:0148-7299
DOI:10.1002/ajmg.1320250503
出版商:Wiley Subscription Services, Inc., A Wiley Company
年代:1986
数据来源: WILEY
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3. |
Rett syndrome: Some comments on terminology and diagnosis |
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American Journal of Medical Genetics,
Volume 25,
Issue S1,
1986,
Page 27-37
John M. Opitz,
John M. Opitz,
James F. Reynolds,
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PDF (617KB)
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ISSN:0148-7299
DOI:10.1002/ajmg.1320250504
出版商:Wiley Subscription Services, Inc., A Wiley Company
年代:1986
数据来源: WILEY
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4. |
Rett syndrome bibliography |
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American Journal of Medical Genetics,
Volume 25,
Issue S1,
1986,
Page 39-46
Mary C. Holt,
John M. Opitz,
James F. Reynolds,
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PDF (464KB)
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ISSN:0148-7299
DOI:10.1002/ajmg.1320250505
出版商:Wiley Subscription Services, Inc., A Wiley Company
年代:1986
数据来源: WILEY
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5. |
Rett Syndrome: A suggested staging system for describing impairment profile with increasing age towards adolescence |
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American Journal of Medical Genetics,
Volume 25,
Issue S1,
1986,
Page 47-59
Bengt Hagberg,
Ingegerd Witt‐Engerström,
John M. Opitz,
James F. Reynolds,
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PDF (502KB)
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摘要:
AbstractA four‐stage construction is presented for illustrating the characteristic clinical pattern and profile over the years in the average, ‘classical’ Rett Syndrome (RS) patient. The staging system was applied and evaluated in the 29 Swedish RS cases who now have passed age 13 (median 18). We also discuss the diagnostic pitfalls we have met and the conditions that need to be considered in the differential diag
ISSN:0148-7299
DOI:10.1002/ajmg.1320250506
出版商:Wiley Subscription Services, Inc., A Wiley Company
年代:1986
数据来源: WILEY
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6. |
Rett syndrome ‐ natural history in 70 cases |
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American Journal of Medical Genetics,
Volume 25,
Issue S1,
1986,
Page 61-72
Sakkubai Naidu,
Mary Murphy,
Hugo W. Moser,
Andreas Rett,
John M. Opitz,
James F. Reynolds,
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PDF (572KB)
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摘要:
AbstractWe evaluated, at our institute, 70 females with Rett syndrome between 2 ½ to 34 ½ years old. This provided an opportunity of observing the natural history of this condition. The evolution of a subacute encephalopathy of very early onset, maximizing in the second year of 1ife, with slow recovery and devastating sequelae, was recognized. The hyperorality, visual auditory and tactile agnosia with aphasia and seizures resembled symptoms described in human Kluver Bucy syndrome. Over interpretation of behavioral abnormalities as seizures was common. Scoliosis was not a necessary concomitant of age. A consistent biochemical or neurophysiological abnormality was not detectable in understanding the cause and pathogenesis of this disease process. Life span appears to be unaffected though life tables have not yet been establishe
ISSN:0148-7299
DOI:10.1002/ajmg.1320250507
出版商:Wiley Subscription Services, Inc., A Wiley Company
年代:1986
数据来源: WILEY
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7. |
Rett syndrome ‐ observational study of 33 families |
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American Journal of Medical Genetics,
Volume 25,
Issue S1,
1986,
Page 73-76
Mary Murphy,
Sakkubai Naidu,
Hugo W. Moser,
John M. Opitz,
James F. Reynolds,
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PDF (153KB)
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摘要:
AbstractPedigree data was obtained from thirty‐three families, each with a case of Rett syndrome. No attempt was made to interpret the finding
ISSN:0148-7299
DOI:10.1002/ajmg.1320250508
出版商:Wiley Subscription Services, Inc., A Wiley Company
年代:1986
数据来源: WILEY
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8. |
A study of the natural history of rett syndrome in 23 girls |
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American Journal of Medical Genetics,
Volume 25,
Issue S1,
1986,
Page 77-83
Alison M Kerr,
J B P Stephenson,
John M. Opitz,
James F. Reynolds,
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PDF (321KB)
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摘要:
AbstractWe have studied 23 patients with Rett syndrome with particular reference to the character and natural history of the clinical disorder.We found a prevalence of 0.8 per 10,000 girls 0–14 years in the region from which cases came. We consider that the disorder of tone, posture and movement is extra‐pyramidal in nature and suggest that the gradual emergence of its fully developed pattern leads to the familiar regression in skills on presentation. We have not found proof of dementia at this stage but rather of severe mental handi
ISSN:0148-7299
DOI:10.1002/ajmg.1320250509
出版商:Wiley Subscription Services, Inc., A Wiley Company
年代:1986
数据来源: WILEY
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9. |
Rett syndrome at an institution for the developmentally disabled |
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American Journal of Medical Genetics,
Volume 25,
Issue S1,
1986,
Page 85-97
William N. Adkins,
John M. Opitz,
James F. Reynolds,
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PDF (652KB)
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摘要:
AbstractRett syndrome (RS) is a condition apparently limited to females characterized by normal early development followed by the abrupt loss of acquired function and beginning autistic behavior in late infancy. Manifestations in RS include decelerating head growth, unusual “hand‐wringing” movements, gait apraxia, neuromuscular tone disturbance, and seizures. No biochemical, hematologic, cytologic, or cytogenetic procedures have been shown to confirm the diagnosis of RS. With the exception of one family with 2 affected half‐sisters, all cases have been sporadic.Six profoundly retarded residents of Central Wisconsin Center have manifestations of RS. Three are microcephalic and 3 have head circumferences at or below the 10th centile. All have seizures or abnormal EEG findings and all were ascertained on the basis of characteristic hand movements. No case of precocious puberty was observed. Two patients had severe scoliosis which was surgically
ISSN:0148-7299
DOI:10.1002/ajmg.1320250510
出版商:Wiley Subscription Services, Inc., A Wiley Company
年代:1986
数据来源: WILEY
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10. |
Rett syndrome: Studies of 13 affected girls |
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American Journal of Medical Genetics,
Volume 25,
Issue S1,
1986,
Page 99-109
Sarojini S. Budden,
John M. Opitz,
James F. Reynolds,
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PDF (436KB)
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摘要:
AbstractThis is a presentation and discussion of clinical and laboratory data obtained on 13 girls with Rett syndrome, a progressive neurological disorder. The condition is thought to be far more prevalent than earlier reported. Family history in one patient showed presence of abnormal hand movements, increasing spasticity and psychomotor retardation in a paternal great grandaunt who died at 7 years.In the absence of chromosomal or biochemical markers, the characteristic disorder of hand movements can be used to distinguish this entity from other mental retardation, cerebral palsy and autism conditions. This report addresses the uniformity of clinical expression and highlights the differences between autism and Rett syndrome. Precocious puberty and respiratory alkalosis were not found in our patients. Feeding disorders were commonly present, and are often difficult to manage. The importance of diagnosis is emphasized as it influences long term management.
ISSN:0148-7299
DOI:10.1002/ajmg.1320250511
出版商:Wiley Subscription Services, Inc., A Wiley Company
年代:1986
数据来源: WILEY
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