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11. Rett syndrome: revised diagnostic criteria and nomenclature

Author

Neul, J. L., Kaufmann, W. E., Glaze, D. G., Christodoulou, J., Clarke, A. J., Bahi Buisson, N., Leonard, H., Bailey, M. E., Schanen, N. C., Zappella, M., Renieri, Alessandra, Huppke, P., Percy, A. K., Rettsearch, Consortium, and Mari, Francesca

Subjects
congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, Methyl-CpG-Binding Protein 2, MECP2 duplication syndrome, CDKL5, MEDLINE, Rett syndrome, Disease, Article, Developmental psychology, 03 medical and health sciences, 0302 clinical medicine, Terminology as Topic, medicine, Rett Syndrome, Animals, Humans, Atypical Rett syndrome, 030304 developmental biology, 0303 health sciences, business.industry, medicine.disease, 3. Good health, Clinical research, Neurology, Anticipation (genetics), Mutation, Neurology (clinical), business, 030217 neurology & neurosurgery
Abstract

Objective Rett syndrome (RTT) is a severe neurodevelopmental disease that affects approximately 1 in 10,000 live female births and is often caused by mutations in Methyl-CpG-binding protein 2 (MECP2). Despite distinct clinical features, the accumulation of clinical and molecular information in recent years has generated considerable confusion regarding the diagnosis of RTT. The purpose of this work was to revise and clarify 2002 consensus criteria for the diagnosis of RTT in anticipation of treatment trials. Method RettSearch members, representing the majority of the international clinical RTT specialists, participated in an iterative process to come to a consensus on a revised and simplified clinical diagnostic criteria for RTT. Results The clinical criteria required for the diagnosis of classic and atypical RTT were clarified and simplified. Guidelines for the diagnosis and molecular evaluation of specific variant forms of RTT were developed. Interpretation These revised criteria provide clarity regarding the key features required for the diagnosis of RTT and reinforce the concept that RTT is a clinical diagnosis based on distinct clinical criteria, independent of molecular findings. We recommend that these criteria and guidelines be utilized in any proposed clinical research.

Published
2010

14. Growth failure and outcome in Rett syndrome: Specific growth references

Author

Tarquinio, D. C., primary, Motil, K. J., additional, Hou, W., additional, Lee, H.-S., additional, Glaze, D. G., additional, Skinner, S. A., additional, Neul, J. L., additional, Annese, F., additional, McNair, L., additional, Barrish, J. O., additional, Geerts, S. P., additional, Lane, J. B., additional, and Percy, A. K., additional

Published
2012
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15. Clinical severity and quality of life in children and adolescents with Rett syndrome

Author

Lane, J. B., primary, Lee, H.- S., additional, Smith, L. W., additional, Cheng, P., additional, Percy, A. K., additional, Glaze, D. G., additional, Neul, J. L., additional, Motil, K. J., additional, Barrish, J. O., additional, Skinner, S. A., additional, Annese, F., additional, McNair, L., additional, Graham, J., additional, Khwaja, O., additional, Barnes, K., additional, and Krischer, J. P., additional

Published
2011
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16. Epilepsy and the natural history of Rett syndrome

Author

Glaze, D. G., primary, Percy, A. K., additional, Skinner, S., additional, Motil, K. J., additional, Neul, J. L., additional, Barrish, J. O., additional, Lane, J. B., additional, Geerts, S. P., additional, Annese, F., additional, Graham, J., additional, McNair, L., additional, and Lee, H. -S., additional

Published
2010
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33. Automated High-Accuracy Phase Measurement System

Author

Stein, S., Glaze, D., Levine, J., Gray, J., Hilliard, D., Howe, D., and Erb, L.A.

Subjects
Measurement, Accuracy, Automation, Oscillators, Frequency, Performance, Operating System, Data Recovery, Phase Modulation
Published
1983

41. Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome

Author

Potocki, L., Park, S-S., Kashork, C.D., Shaffer, L.G., Lupski, J.R., Glaze, D., Tan, D-X., and Reiter, R.J.

Abstract

BackgroundSmith-Magenis syndrome (SMS) is a multiple congenital anomalies/mental retardation syndrome associated with a hemizygous deletion of chromosome 17, band p11.2. Characteristic features include neurobehavioural abnormalities such as aggressive and self-injurious behaviour and significant sleep disturbances. The majority of patients have a common deletion characterised at the molecular level. Physical mapping studies indicate that all patients with the common deletion are haploinsufficient for subunit 3 of the COP9 signalosome (COPS3), which is conserved from plants to humans, and in the plant Arabidopis thaliana regulates gene transcription in response to light. Haploinsufficiency of this gene is hypothesised to be potentially involved in the sleep disturbances seen in these patients. Melatonin is a hormone secreted by the pineal gland. SMS patients are reported to have fewer sleep disturbances when given a night time dose of this sleep inducing hormone.MethodsUrinary excretion of 6-sulphatoxymelatonin (aMT6s), the major hepatic metabolite of melatonin, in 19 SMS patients were measured in conjunction with 24 hour sleep studies in 28 SMS patients. Five of the 28 patients did not have the common SMS deletion. To investigate a potential correlation of COPS3 haploinsufficiency and disturbed melatonin excretion, we performed fluorescence in situ hybridisation (FISH) using two BACs containing coding exons of COPS3.ResultsAll SMS patients show significant sleep disturbances when assessed by objective criteria. Abnormalities in the circadian rhythm of aMT6s were observed in all but one SMS patient. Interestingly this patient did not have the common deletion. All patients studied, including the one patient with a normal melatonin rhythm, were haploinsufficient for COPS3.ConclusionsOur data indicate a disturbed circadian rhythm in melatonin and document the disturbed sleep pattern in Smith-Magenis syndrome. Our findings suggest that the abnormalities in the circadian rhythm of melatonin and altered sleep patterns could be secondary to aberrations in the production, secretion, distribution, or metabolism of melatonin; however, a direct role for COPS3 could not be established.

Published
2000

48. Recent Improvements in the Atomic Time Scales of the National Bureau of Standards

Author

NATIONAL BUREAU OF STANDARDS BOULDER CO TIME AND FREQUENCY DIV, Allan,D. W., Glaze,D. J., Gray,J. E., Jones,R. H., Levine,J., NATIONAL BUREAU OF STANDARDS BOULDER CO TIME AND FREQUENCY DIV, Allan,D. W., Glaze,D. J., Gray,J. E., Jones,R. H., and Levine,J.

Abstract

Coincident with the installation of a new measurement system, the national Bureau of Standards has also developed a new philosophy for the generation of both UTV(NBS) and atomic time, TA(NBS). Several benefits have resulted from this new direction. First, a more uniform UTC(NBS) scale was achieved in order to meet the increased requirements of our users. Second, improved synchronization of UTC(NBS) with UTC (Universal Time Coordinated) has been achieved. The frequency stability of UTC(NBS) is typically about 1 x 10 to the minus 14th power for averaging times of one day and longer and synchronism is now maintained to within about 1 microsecond of UTC indefinitely. Previously five microseconds was a realistic goal. Third, a new Kalman type algorithm with more robust performance is used to generate TA(NBS) totally independent of the generation of UTC(NBS). Fourth, a significantly improved working time and frequency reference is readily available. And fifth, a very stable frequency reference is obtained by using all of the clocks available in the NBS clock ensemble., This article is from 'Proceedings of the Annual Precise Time and Time Interval (PTTI) Applications and Planning Meeting (15th) Held at Washington, DC on 6-8 December 1983,' AD-A149 163, p29-40.

Published
1984

49. Performance of an Automated High Accuracy Phase Measurement System

Author

NATIONAL BUREAU OF STANDARDS BOULDER CO TIME AND FREQUENCY DIV, Stein,S., Glaze,D., Levine,J., Gray,J., Hilliard,D., NATIONAL BUREAU OF STANDARDS BOULDER CO TIME AND FREQUENCY DIV, Stein,S., Glaze,D., Levine,J., Gray,J., and Hilliard,D.

Abstract

A fully automated measurement system has been developed that combines many properties previously realized with separate techniques. This system is an extension of the dual mixer time difference technique, and maintains its important features: zero dead time, absolute phase different measurement, very high precision, the ability to measure oscillators of equal frequency and the ability to make measurements at the time of the operator's choice. For one set of design parameters, the theoretical resolution is 0.2 ps, the measurement noise is 2 ps rms and measurements may be made within 0.1 s of any selected time. The dual mixer technique has been extended by adding scalers which remove the cycle ambiguity experienced in previous realizations. In this respect, the system functions like a divider plus clock, storing the epoch of each device under test in hardware., This article is from the Proceedings of the Symposium on Frequency Control (36th Annual), 2-4 Jun 82, Philadelphia, PA., AD-A130 811, p314-320.

Published
1982

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