Early-onset seizure variant of Rett syndrome: Definition of the clinical diagnostic criteria

R. Artuso, M. A. Mencarelli, R. Polli, S. Sartori, F. Ariani, M. Pollazzon, A. Marozza, M. R. Cilio, N. Specchio, F. Vigevano, M. Vecchi, C. Boniver, B. Dalla Bernardina, A. Parmeggiani, S. Buoni, G. Hayek, F. Mari, A. Renieri, A. Murgia

Research output: Contribution to journalArticle

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Abstract

Background: Rett syndrome is a severe neurodevelopmental disorder affecting almost exclusively females. Among Rett clinical variants, the early-onset seizure variant describes girls with early onset epilepsy and it is caused by mutations in CDKL5. Methods: Four previously reported girls and five new cases with CDKL5 mutation, ranging from 14 months to 13 years, were evaluated by two clinical geneticists, classified using a severity score system based on the evaluation of 22 different clinical signs and compared with 128 classic Rett and 25 Zappella variant MECP2-mutated patients, evaluated by the same clinical geneticists. Clinical features were compared with previously described CDKL5 mutated patients. Both the statistical and the descriptive approach have been used to delineate clinical diagnostic criteria. Results: All girls present epilepsy with onset varying from 10 days to 3 months. Patients may present different type of seizures both at onset and during the whole course of the disease; multiple seizure types may also occur in the same individual. After treatment with antiepileptic drugs patients may experience a short seizure-free period but epilepsy progressively relapses. Typical stereotypic hand movements severely affecting the ability to grasp are present. Psychomotor development is severely impaired. In the majority of cases head circumference is within the normal range both at birth and at the time of clinical examination. Conclusion: For the practical clinical approach we propose to use six necessary and eight supportive diagnostic criteria. Epilepsy with onset between the first week and 5 months of life, hand stereotypies, as well as severe hypotonia, are included among the necessary criteria.

Original languageEnglish
Pages (from-to)17-24
Number of pages8
JournalBrain and Development
Volume32
Issue number1
DOIs
Publication statusPublished - Jan 2010

Fingerprint

Rett Syndrome
Epilepsy
Seizures
Hand
Mutation
Muscle Hypotonia
Aptitude
Anticonvulsants
Reference Values
Head
Parturition
Recurrence

Keywords

  • CDKL5
  • Diagnostic criteria
  • Early-onset seizure variant
  • Epilepsy
  • Rett syndrome

ASJC Scopus subject areas

  • Clinical Neurology
  • Developmental Neuroscience
  • Pediatrics, Perinatology, and Child Health

Cite this

Artuso, R., Mencarelli, M. A., Polli, R., Sartori, S., Ariani, F., Pollazzon, M., ... Murgia, A. (2010). Early-onset seizure variant of Rett syndrome: Definition of the clinical diagnostic criteria. Brain and Development, 32(1), 17-24. https://doi.org/10.1016/j.braindev.2009.02.004

Early-onset seizure variant of Rett syndrome : Definition of the clinical diagnostic criteria. / Artuso, R.; Mencarelli, M. A.; Polli, R.; Sartori, S.; Ariani, F.; Pollazzon, M.; Marozza, A.; Cilio, M. R.; Specchio, N.; Vigevano, F.; Vecchi, M.; Boniver, C.; Dalla Bernardina, B.; Parmeggiani, A.; Buoni, S.; Hayek, G.; Mari, F.; Renieri, A.; Murgia, A.

In: Brain and Development, Vol. 32, No. 1, 01.2010, p. 17-24.

Research output: Contribution to journalArticle

Artuso, R, Mencarelli, MA, Polli, R, Sartori, S, Ariani, F, Pollazzon, M, Marozza, A, Cilio, MR, Specchio, N, Vigevano, F, Vecchi, M, Boniver, C, Dalla Bernardina, B, Parmeggiani, A, Buoni, S, Hayek, G, Mari, F, Renieri, A & Murgia, A 2010, 'Early-onset seizure variant of Rett syndrome: Definition of the clinical diagnostic criteria', Brain and Development, vol. 32, no. 1, pp. 17-24. https://doi.org/10.1016/j.braindev.2009.02.004
Artuso, R. ; Mencarelli, M. A. ; Polli, R. ; Sartori, S. ; Ariani, F. ; Pollazzon, M. ; Marozza, A. ; Cilio, M. R. ; Specchio, N. ; Vigevano, F. ; Vecchi, M. ; Boniver, C. ; Dalla Bernardina, B. ; Parmeggiani, A. ; Buoni, S. ; Hayek, G. ; Mari, F. ; Renieri, A. ; Murgia, A. / Early-onset seizure variant of Rett syndrome : Definition of the clinical diagnostic criteria. In: Brain and Development. 2010 ; Vol. 32, No. 1. pp. 17-24.
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AU - Cilio, M. R.

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AU - Boniver, C.

AU - Dalla Bernardina, B.

AU - Parmeggiani, A.

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