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196
Niedermeyer et a1
INTRODUCTION
Clinical and research interest in children with Rett
syndrome has grown rapidly in the past few years. The
fundamental work of Rett (1966) and Hagberg (1983) has
shown clearly that seizures and EEG abnormalities are
prominent manifestations in most Rett syndrome patients.
This investigation is essentially limited to the EEG and
the character of its abnormalities.
METHOD and MATERIAL
This study is based upon 230 records obtained from
44 patients. Most of the patients were studied at the
Neurological Hospital Vienna-Rosenhugel (207 records, 35
patients). The remaining 23 records were obtained from
9 patients at the J.F. Kennedy Institute. The recordings
were performed while awake or in natural sleep. In one
patient, an ambulatory 24-hour-cassette EEG recording
was carried out.
Almost all of the patients had follow-up records
with a maximum of 12 tracings obtained in 2 patients.
The maximal follow-up period was 17 years.
RESULTS
We will limit ourselves to the most relevant
findings. Almost all of the records were unequivocally
abnormal. There was one patient (age 2 10/12 years )
with only one EEG tracing which was read as "within normal
limits of variability for age", but this was exceptional.
The most common abnormality consisted of a monotonous
type of rhythmical medium voltage slow activity, mostly
in the 3-5/sec range and of generalized character with no
distinct local maximum. It was present in waking state
and early drowsiness. This pattern was found in 30
patients (68.4%).
Spikes and sharp waves of diffuse, scattered or (more
seldom) bilateral-synchronous character were noted in 22
patients (50%).
It is important to note that most
patients had more than one type of abnormality. Slow
spike-wave complexes (1-2.5 complexes per second) were
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Pronounced
abnormalities were most often found
between age 3 to 10 years and tended to decline during
the second decade of life. This might also be true for
the accompanying epileptic seizure disorder which tended
to become less severe in older children and adolescents.
In the course of the disease, the appearance of
indistinctly defined low voltage records with mixed slow
and fast activity was noted. This development was clearly
demonstrable in 4 patients. In one patient, a burstsuppression pattern developed after age 2 years.
Sleep either augmented or attenuated the EEG
abnormalities. Physiological sleep patterns such as
spindles, vertex waves and K complexes were unusually
poorly developed or even absent. An ambulatory
24-hour-recording showed that NREM as well as REM stages
were rather ill defined; most commonly, presumable NREM
sleep was characterized by high voltage rhythmical
1.5-3/sec activity.
DISCUSSION
EEG studies in Rett syndrome have been rather sparse
in his first report.
Rett (1966) documented the
prominent role of rhythmical slow activity (mostly in
the theta range); this observation is fully confirmed by
our more recent data. Monotonous slowing of the EEG was
also stressed by Hagberg (1983) who noted a decrease of
voltage and progressive flattening between age 3 to 8
years. However, our data do not support this latter view;
according to our findings, a tendency toward low voltage
usually occurs in the second decade of life. On the other
hand, Hagberg (1983) found rather typical changes in sleep
with burst-suppression-like characteristics. Short and
nonperiodic slow bursts were emphasized by Rolando (1985).
Epileptic seizures are very common in Rett syndrome
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Niedermeyer et a1
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REFERENCES
Gastaut H, Roger J , Souayrol R, Tassinari CT, Dravet
C , Bernard R , Pinsard N and Saint-Jean M :
Childhood epileptic encephalopathy with diffuse slow
spike-waves (otherwise known as "petit ma1 variant")
or Lennox syndrome. Epilepsia (Amsterdam)
Hagberg B, Aicardi J, Dias K and Ramos 0 (1983):
A progressive syndrome of autism, dementia, ataxia
and loss of purposeful hand use in girls: Rett's
syndrome: Report of 35 cases. Ann Neurol 14:471-479
Lennox WG (1960): "Epilepsy and Related Disorders".
Boston: Little, Brown and Co.
Rett A (1966):" Ueber ein cerebral-atrophisches Syndrom
bei Hyperammonaemie" Vienna: Brueder Hollinek
Roland0 S (1985): Rett syndrome: report of eight cases.
Brain Dev 7:290-296
Trauner DA and Haas RH (1985): Electroencephalographic
abnormalities in Rett's syndrome. Ann Neurol 18:394
(abstract)
Edited by John M. Opitz and James F. Reynolds
Received for publication October 14, 1985; revision received December 2, 1985