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American Journal of Medical Genetics 24: 195-199 (1986)

RETT SYNDROME AND THE ELECTROENCEPHALOGRAM

E. Niedermeyer, A. Rett, H. Renner, M. Murphy


and S. Naidu
Abteilung fur entwicklungsgestorte Kinder,
Neurologisches der Stadt Wien - Rosenhugel,
Vienna, Austria (A.R., H.R)
The John F. Kennedy Institute for Handicapped
Children,Baltimore,Maryland (M.M., S.N., E.N.)
Department of Neurology, The Johns Hopkins
University School of Medicine and Hospital,
Baltimore, Maryland (E.N.)
ABSTRACT
The EEG is almost always abnormal in patients with
Rett syndrome. This is demonstrated in a study based
upon 230 EEG records obtained from 4 4 patients.
Rhythmical slowing (mostly 3-5/sec) represents the most
common EEG abnormality (30 patients). Diffuse, scattered
or bilateral-synchronous spikes or sharp waves were found
in 22 patients. Slow spike-wave complexes were present
in 9 patients. With advancing age, the EEG abnormalities
tend to decline and ill-defined low voltage records may
develop. These changes may parallel an intrinsic disease
course with an early active phase followed by a phase
of residual impairment.
Keywords: Rett syndrome, Electroencephalogram, Paroxysmal
EEG discharges, Lennox-Gastaut syndrome
Address reprint requests to Ernst Niedermeyer, M.D., Johns
Hopkins Hospital, 600 North Wolfe Street, Baltimore,
Maryland 21205
0 1986 Alan R. Liss, Inc.

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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

EEG in Rett Syndrome

197

detected in 9 patients (20.5%).


The slow spike-wave
activity tended to be more evident in the sleep portion
of the record. These complexes were either of
generalized character ( 4 patients) or locally accentuated
(5 patients); the local maximum was found over occipital,
central, parietal or temporal areas but not over frontal
regions

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

(70-80%) and, for this reason, the frequent occurrence


of paroxysmal EEG patterns comes as no surprise. A
correlation of the epileptic manifestations with certain
types of EEG abnormalities will be the topic of another
presentation.
Such an analysis is difficult since
epileptic seizures may emerge and eventually disappear
-- partly due to antiepileptic medication and partly due
to intrinisic trends in the c,ourse of the disease.
The occasional finding of slow spike-wave complexes
in Rett syndrome deserves special attention. The
epileptologically oriented electroencephalographer is
inclined to equate slow spike-wave complexes with the
Lennox-Gastaut syndrome which represents an exceptionally
severe epileptic seizure disorder of childhood (Lennox,
1960; Gastaut, 1966).
In this causally heterogeneous
condition, the slow spike-wave complex consistently shows
a .frontal maximum whereas, in Rett syndrome, atypical
localization of the complexes is noted. Multifocal
spike-waves were also reported by Trauner and Haas (1985).
The EEG abnormalities become less spectacular with
advancing age and especially during the second decade of
life. There is reason to presume that such a rise and
decline of EEG abnormality reflects intrinsic dynamics
in the course of the disease which may pass from an active
into a residual phase during which no further damage is
done to the central nervous system.
At present, there is no "EEG typical of the Rett
syndrome" but monotonous diffuse rhythmical slow acti-vity
(mosty 3-5/sec) appears to be particularly suggestive of
this diagnosis.
Atypically localized slow spike-waves (thus differring
from Lennox Gastaut syndrome) and highly unnormal sleep
patterns may also support the diagnosis of Rett syndrome.
Thus, our findings remain of preliminary character
and further work has to be done in this domain. Further
investigations should concentrate on epileptological EEG
correlates and also on the architecture of nocturnal sleep
stages (with the use of a specialized sleep laboratory).

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199

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

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