Abstract
To clarify the relationship between the degree of developmental disturbance and the
severity of epilepsy in Angelman syndrome, we investigated 11 patients and measured
both clinical outcomes and EEG parameters. Seven patients were followed up until after
8 years of age. Eight patients were found to have 15q11–q13 deletions.
All patients experienced epileptic seizures and all but one displayed nonconvulsive
status epilepticus (NCSE) during the period of observation. Epileptic seizures, including
NCSE, disappeared by around 8 years of age. In addition, specific epileptic discharges,
as measured by EEG, tended to subside with age. Although development seemed almost
normal or only slightly delayed during the first 6 months of life, all patients eventually
developed severe retardation. Two patients displayed very severe retardation and were
unable to comprehend language or walk independently at the last follow-up. Only one
patient was able to speak a few meaningful words. In one of the most severely affected
patients, who showed the earliest onset of seizures and NCSE, it is possible that
the repetitive bouts of NCSE might be responsible for the severe developmental outcome.
However, the other patient with particularly severe retardation did not experience
NCSE, while the patient with the most favorable outcome had repetitive episodes of
NCSE.
Therefore, we conclude that the severity of developmental disturbance in Angelman
syndrome is not necessarily related to the degree of epilepsy. However, intensive
therapy for NCSE might still be justified because there are some patients in whom
NCSE results in a transient and sometimes permanent decline in mental and motor functioning.
Keywords
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Article info
Publication history
Accepted:
September 3,
2003
Received in revised form:
September 1,
2003
Received:
July 14,
2003
Footnotes
☆The paper is based on the lecture given at the 6th annual meeting of the Infantile Seizure Society, Tokyo, March 15–16, 2003.
Identification
Copyright
© 2004 Elsevier B.V. Published by Elsevier Inc. All rights reserved.
