What constitutes

cerebral p lsy?

Nadia Badawi MSc MHCPI F H A Q Fellow in Neonatoloky,

King 1:tlwartl Memorial Hospital;
Linda Watson*, Research Assistant, Western Australian
Cerebral Palsy Register, 'Ilr\yrTelcthon Institute for Child
Health Research;
Beverly Petterson RSc(Hons) MSc PhD, Senior Research
Ofticer, Ilisability Services Commission;
Eve Blair PhD, Senior Hesearch Ofticcr, Western Australian
Cerebral Palsy Register. TVW'lelethon Institute for Child
Health Research;
Jennie Slee MBHS UCI1 DipObs COG FRACP, Fellow in
Clinic;il Genetics. Genetic Services of Westcrn Australia.
King Edward Memorial Hospital; Perth. Western Australia.
Eric Haan RMctlSc MBBS FRACP Clinical Geneticist, llcad,
South Australian Clinical Genetics Service, Women's and
Children's Hospital, North Adelaide, South Australia.
Fiona Stanley M D FFPI-1M IAFPHM MFCCH FRACP FRACO(;.
Ilirector. 'IMV Telethon Institute for Child I lealth Ilesearch.
Perth, Western Australia.
'l'hr 1 W V liilcthon Institute for Child Health Hcscarch is ;iHiliatcd
with l'rinccss X1:irgaret Hospital for (:hiltlrcn. Subiaco. Wstrrn
hiisrralia. antl Thr llniwrhity of \Vc+rcrn i\ustraliri. Nrtllancls.
\vrstern i\uwilia.

c~.'orrcs~~trrletrc~
t o secatrrl nrrtbor at I M V 'l'rlcthon Institute l o r
i:hi\d Hcalrh Research. P O Box 855. Wrsr I'cnh. \ksrcrn Australia
6872.

Cerebral palsy (CP) is a term of convenience applied to a

group of motor disorders of central origin defined by clinical
description. It is not a diagnosis in that its application infers
nothing about pathology. aetiology, or prognosis. It is an
umbrella term covering a wide range of cerebral disorders
which result in childhood motor impairment. The precise
inclusion criteria vary with the objectives for using the term.
For meaningful comparison of rates of CP, as performed by
and between CP registers, it is important that the rates should
be generated using the same criteria. As generally understood
there must be motor impairment, and this impairment must
stem from a malfunction of the brain (rather than spinal cord
or muscles). Furthermore, the brain malfunction must be
non-progressive and it must be manifest early in life. For the
purposes of comparisons of rates across time even when the
condition meets all the above criteria, it must not historically
have been excluded from the category of CP. This paper
addresses the problem of standardizing the inclusion criteria
for selecting people included on CP registers with particular
reference to this last criterion.

This paper incorporates the ideas of number o f contributors (listed below) w h o responded to o u r request for
feedback o n the draft manuscript. Further comments are
welcome.
'I'hc term cerebral palsy (CP) has been used for much o f
this century. but n o consensus definition was proposed
until that of the 1.ittlc Club in 1959 (Mac Keith et al. 1959).
At that time aetioloby antl pathology were unknown antl
only the clinical description was available for most cases.
Thus Mac Keith's and other definitions were based o n clinical description (Ralf antl lngram 1955, Minear 1956,
Kurland 1957. Bax 1964, Nelson antl Ellenberg 1978,
lngram 1984). This is still the case in the most recent consensus definition: 'an umbrella term covering a group of
non-progressive, but often changing, motor impairment
syndromes secondary t o lesions o r anomalies o f the brain
arising in the early stages of its development' (Mutch et al.
1992, p 549). Howevcr, the purely clinically descriptive
nature o f this grouping hiis sometimes been ignored and
some c1e;irly recognizable syndronies have not traditionally
been described as CY even when they meet the clinical criteria, because they already had ;I more inforni;rtive label:
e.g. trisomy 13. trisomy 18, o r Cornelia d e 1.ange syndrome.
With the advent of improved diagnostic tests such :IS chromosomal analyses, metabolic studies. and new imaging
techniques. it has been possible to identify previously
unknown causes in children classified as having Cl?
Whether o r not these cases with newly recognized diagnostic labels should continue to be included must depend o n
the object o f the classification. Aetiology may be irrelevant
for planning service provision and management but is very
relevant to studies seeking prcventable causes.
CP registers aini t o measure trends in prevalence over
time. and comparisons between registers compare prevalence in different populations. Registers may also be used to
identify subjects for collaborative studies. For these objectives aclear, valid, stable, and reproducible definition ofCP is
essential. If children in whom the origin o f their motor tlisortler is now explained are no longer classitied as having CP, the
measured rates o f CP will decrease but without any real
decrease in the prevalence o f the condition. We therefore
fee1 that CPtlatacollections shoulct continue t o include these
cases, with all available aetiological and pathological information being clearly coded t o enable their exclusion should
the objectives require it.
In this paper we attempt t o define criteria for the inclusion and exclusion o f caseson a CY register and hope t o stimulate further discussion.
The Western Australian Cerebral Palsy Kegister collects
data on all children in Western Australia who are dcscribctl as
having CP Those with a clearly documented cause occurring
after the neonatal period up t o the age of 5 years ;ire considered as a separate group and excluded from analyses carried
out to investigate antenatal and pcrinatal risk factors. This
group may bc excluded altogethcr from some registers.
Information o n all cases held o n the Western Australian OVA)
Register is updated to the age o f 5 years, an arbitrary cut-off
point which differs from some other registers. This age was
chosen as a balance h e n w e n completeness and xcuracy of
case ascertainment and timeliness o f reporting the data as
most cases will have come t o light by age 5 , signs that are
going to resolve will have d o n e so, and many progressive and

other syndromes not considered t o h e CP will have become

apparent. The WA Register includes a11 severity categories
- minimal, mild, moderate, and severe - minimal being
defined as the presence of neurological signs without functional disability Some centres have chosen to collect nioderate and severe cases only, and coniparisons bcnvcen
registers restricted t o these categories may be more reliable
since the mininial/niild group is most likely t o be untlcrascertainctl and most likely t o include contentious borderline
cases. Further discussion t o reach a consensus o n standardization of severity criteria is needed.

Conditions which may be excluded

Underlying principles of exclusion and inclusion

I'eople with a motor impairment. manifest early in life and
the result o f a static cerebral patholog: arc canhidates for
the description o f having CP The patholohy is typically thc
result o f vascular accidents, hypoxia. infections, o r congcnital CNS anomalies. C P is often associated with hydrocephalus
(Hagberg :ind I iagberg 1989).
Cases which have been excluded historically (during the
period o f data collection o f CP registers going back to about
1960 but before the advent o f genetic testing) should continue to bc exclutled. 'l'hcse have motor disorders typically
;issociated with recognizable syndromes which do not
require recently tlevelopctl chromosomal o r metabolic
studies to be detected (e.g. Irisomy 13, trisomy 18. Cornelia
d e Imge and Sjiigrcn-larsson syndromes) (see Appendix A).
Conversely, those which historically have been included.
though now identifiable by modern techniques as a syndrome with a known cause, should continue t o be inclutled
(e.g.some partial trisomies and deletions. X-linked hydrocephalus syndrome) (see Appendix B). The example o f R e t t
syndrome is not straightforward. Before this syndrome
became widely recognized in the mid 1980s. sonit: cases
would have been classified as Ct? Following review of such
cases o n the WA Register. it was decided t o exclude them o n
the grounds that it was a progressive disorder. While this
may be true in typical Rctt syndrome, regression may not be
;I feature in atypical cases. It is now thought t o he a neurodcvelopment;il disorder rather than a neurodegcnerativc o r
neuronictabolic condition (Hagberg 1995).
As the phenotype varies between individuals with a particular syndrome, and registers may differ about which t o
include. unique antl consistent coding o f syndromes and
causcs is esscntial t o achieve consistency in case selection
for collaborativc studies. For example, Angelman syndrome is easily recognizable clinically and has historically
been included o n the Swedish Cerebral Palsy Kegister
because its typic:il manifestation (ataxia of cerebral origin,
sometimes with hypcrreflexia) meets CP criteria well. while
it has been excluded by other registers. For comparisons
over tinie within registers, each must retain their original
criteria. but for comparisons behveen registers ;igreement
must be reached.
Syndromes which are o r may be associated with motor
impairment are listed in thc attached appendices by their
inclusion,'exclusion status according t o criteria presented
here. The list may be somewhat idiosyncratic in that these
syndromes were selected because they have come t o the
attention o f the WA Register in potential registrants. Further
discussion regarding these syndromes and any addition;tl
examples is invited.

(; 1:s l i l . l ( . S I ' V I ) R ( ) , M I 3

I IYPOl'( )S I,\

'There is disagreement about whether the rare casesof hypotonia in isolation (as distinct from dystonia) should be considered as CP I lypotonia associated with intellectual
disability is common antl is not tnditionally classitird as CP
I f only those c;\scs o f isolated hypotonia with hyperretlexia
\\.ere included. almost all hypotonic cases associated with
intellectual disability would be exclutled. tlo\vcver this
solution tends t o be over-inclusive in the preterni group.
especially at early ages.

Some genetic syndromes such. as familial spastic panplegi;i

(Appleton et al. 1991) meet the criteria for CP and shoultl be
included. Other chromosomaligenetic anomalies that are
easily recognizable (e.g. by typical dysmorphisms) and are
associated with motor impairment (e.g. hypertonicity in
Cornelia dc I.ange syndrome or trisomies 13 arid 18) have
traditionally been cxcludcd from <;I1 registers. Ho\wver. if
the observed type or degree of motor disorder is not a typical component of the syndrome. antl hence cannot be considered a part o f the syndrome. the c a w should he included
(e.g. spastic cliplegin in a child with Sotos syndrome. or spastic hemiplegia in a child with Down syndrome). As nientioned ;ibove. disagreements may arise where clinically
recognizable syndromes have historically been included.
For the purposes o f temporal comparisons of rates. those
chromosomal anomalies which would not previously have
been identified without the useof modern kanotyping techniques should continue to be included in C P data collections. klo\vever. the aetiology should be coded to provide
the means t o exclude all chromosomal anomalies from studies attempting to elucidate other pre- and perinatal causes.
\!l3,\l3ol.l(:

l)l>ORl)I.R>

New inborn errors o f metabolism are being discovered n+fh

increasing frequency. Inherent in the detinition ofCP is that
it is a non-progressive condition. and this \\ill exclude many
metabolic conditions such as glutaric aciduria and mitochontlrial disorders which may initially be considered t o
meet the criteria for CP Sonic of these disorders can remain
stable u p to the age of 5 years, and routine updatingof register data t o a later age \vould be required t o identify later progression. Iknvever. motor damage which results from any
single episode of metabolic decompensation is. in itself. static (e.g. maple syrup urine disease). 1:urthermore. in some
people the metabolic condition may be asymptomatic and
will remain undiagnosed. with the nwtor disorder being the
onlyobvious defect. Such cases should be included.
S Y N I ) R O S l I ~ \t'l'l II \ A S C L L\\R l)EFI:(;l'>

Cases with motor impairnittnt secondary to a cerebro-vascular insult resulting from a vascular defect should be
included in the detinition even where these defects are part
o f a particular syndrome. Infarcts do not necessarily result
from such defects but can occur pre- o r postnatally (e.g.see
Appendix C). if insults are recurrent the disorder may be
described as progressive. but this is not always thc case, and
deterioration resulting from repeated insult is not the usual
meaning of progressive. On balance we think it is best to
include these conditions.

Careful consideration (ideally. examination by an expert

panel) is needed for cases where the severity of the motor
impairment is greater than can be attributed either to a recognized syndrome or (particularly for hypotonia) to intellectual disability.
ENCIPHAl.0CEI.E

Although neural-tube defects of the spine are always excluded (see below), motor disorders resulting from encephalocele are included in some CP data collections.

Conditions which are always excluded

NEIIHOL)IGENEHATIVE C:ONDITIONS

A. these conditions are progressive, they are excluded by

definition. However, it may not he obvious initially that the
motor disability is progressive, and it is important to review
a child's condition at least to the age of 5 years, by which

time most progressive disorders will have been diagnosed

(Huj$es and Ncwton 1992) (see Appendix I)).
h't$HO.\Il~S(.L~I.;\H L)ISOHI)t<HS

These conditions have never been classified as CP.Examples

include the myopathies, the muscular dystrophies, and neuropath ies.

such disagreements will involve only a small number of

cases, and prevalence will not he signihcantty affected. For
collaborations between registers, syndromes and conditions associated with a motor disorder need to be coded in
the same way, using a comprehensive coding scheme t o
allow a unique code for each disorder. Thus, even where
inclusionkxclusion criteria differ, registers would have the
capacity to match their case composition for collaborative
studies. While this may be easier for new registers t o implement, we believe it is worthwhile for ongoing registers to
clearly define their inclusion/exclusion criteria, review their
cases, and insert the additional codes where relevant.
\Ve have taken this opportunity to recommend a standardized coding scheme for syndromes associated with Cl? As
none of the available databases (landon Dysmorphology
Database, McKusick. POSSUM [PicturesofStandad Syndromes
and Undiagnosed Malformations I) are all-inclusive with
regard to the list of syndromes compiled for this paper. the
numbering system for POSSUM ('l'he Murdoch lnstitute for
Research into Birth Defects 1996) appears to best suit our
purposes. These four-digit numbers are listed in the margin
of the 'Index t o Appendices A-D'. \mere numbers are not
given, an in-house code will need to be allocated as these
syndromes are not included in the POSSUM system (c.g.
moyamoya disease. Troyer syndrome, and so on).

S t I ' H A L - ' I t i H E l ) t ! F E ( X O F T H E SPINE

hfotor problems caused by myelocele or meningocele are

always excluded. A s mentioned above, those due t o an

lLI.\lOIJRS

Acktr o11~I~~dgettreti
Is
U'e would like to thank the following people for their valuable
contributionsto this work:Profcsor Eva Albrrman. London, U K
(SE'iharnes and N E Th:imes Cercbnl Palsy Registers);
Dr DB Appleton, Brisbanc, Australia; I)r N w l French, Penh.
Australia; Dr Gudrun and Professor Bengt Hagberg, Gotcborg.
Swcden (Cerebral Palsy Register of SW Swcden);Dr Ann Johnson,
Oxford. l i K (Oxford Registcr of Iiarly Childhood Impairments);Dr
Karl Kuban. Boston, USA; DrAlan I.cviton, Boston, USA; DrJim
McGill, Brisbane. Austrdlia; Dr Philip Montgomery, Penh. Australia;

Motor problems caused by brain tumours are cxcluded

Dr Karin Nclson. Maryland, USA: Dr POI) Pharoah. I.ivcrpool. UK

en&phalocele, because this is a cerebral lesion, are included in some registers if they meet the criteria for Cl? Paralysis
due to spina bifida is not classified as CP; however, cases
with--amotor disorder of cerebral origin separate from a
coinciding spina bitida have been described and should be
included.

Conclusions
'l'he concept of CP as a separate entity is perhaps becoming
outdated for aetiological objectives with the advent of techniques that enable a better understanding of the patholoby
underlying clinically recognizable patterns. For example,
MRl scanning ha5 demonstrated pathological connections
between some motor impairments and impairments in cognition, vision, and epilepsy. If different impairments arise
from the same pathology the case for considering motor
impairment separately is weakened. For some objectives all
abnormal neurological signs occurring in early childhood
need to be considered together. These could be subclassified by the clinical descriptions of all impairments and by
aetiology where this is known to enable inclusion and exclusion as warranted by the objectives o f case selection. The
separation of motor impairment remains useful for service
provision and management, and because the distinctive
term 'cerebral palsy' is well recognized and has unique
advantages as a keyword for searching databases, it should
not be abandoned.
The suggestions in this paper are intended to improve
interobserver agreement in applying the term CP for the
purposes of registers. Some disagreement will remain about
which syndromes 10 include or exclude on a CP register, but

522 Deiwlopmerital Afedicine& Child Neurology 1998.40:520-527

(Cercbnl Yilsy Register of thc Merscy Rcgion); Dr Dinah

Reddihough, Meibourne. Australil (VictorianCerchnl Palsy
Register); Dr Peter Silberstein, Perth. Australia; Dr Katrina Williams.
Sydney,Austnlil. We would also like to thank Dr Athel Hockey who
originally cstablishcd the principlcs for including/excluding
syndromes for t h e Western Australian <:erebra1Palsy Register.

Appendix A
Easily identifiable syndromes associated with motor impairment which historically have been excluded.
APPEN1)IX

A1

Syndromes associated with motor impairments other than

isolated hypotonia, historically excluded:
Angelman syndrome (Happy puppet syndrome)*:Ataxia
and jerky a m movements, hypotonia and occasionally
hyperre tlexia.
Apert syndrome (acrocephalosyndactyly): Craniosynostosis,
occasionally intellectual deficit.
Atelencephaly: Agenesisihypoplasia of corpus callr)sum,
cerebral atrophyh~yelinabnormality,
hydranencephaly/porencephaly,hydrocephalyAargeventricles. lisxncephaly, intellectual deficit. seizures, spasicity/increased tendon .reflex.
Baller-Gcrold syndrome: Craniosynostosis with radial
defects.
Bloch-Sulzberger syndrome (incontinentia p i p e n t i ) :
Approximately one-third have intellectual deficit, microcephaly, spasticity and/or seizures.
Cornelia de Lange syndrome (dc 1:ange syndrome): Initial
hypcrtonicity.
de lnnge syndrome (see Cornelia de I m g e syndrome)
de Sanctis-Cacchione syndrome (xerodermic idiocy syndrome): Microcephaly. intellectual detick and detrrioration with cercbral conical and cerebellar 'atrophy' and
abnornial EEG. Variable spasticity, incoohnation.
seizures. Hypothalamic dysfunction.
Edward syndrome (trisomy 18 syndrome): Inwllectud
deficit, hypertonicity (after neonatal p e r i d ) . Occasionally
facial pals): paucity of myelination, microgyria, cerebellar
hypoplasia, defect o f corpus callosum, hydrocephalus,
niyelomeningocoele.
Happy puppet syndrome (see Angelman syndrome)"
lncontinentia pigmenti syndrome (see Bloch-Sulzberger
syndrome)
Klinefelter syndrome (XXY syndrome): Occasionally
mild-moderate ataxia.
Klippctl-Feil anomalad: Primary or secondary neurological
defects such as paraplegia, hemiplegia, cranial, or cervical
nerve palsies.
l a w n syndrome: Multiple joint dislocation. quadriplegia
due to vertebral segmentation abnormalities. Autosomal
recessive.
Laurence-Moon syndrome: Ataxia, intelIectuaI deficit, spasticity/increased tendon reflex.
Lenz microphthalmia: Microcephaly. intellectual deficit,
spasticityhncreased tendon reflex.
MarshallTSmithsyndrome: Motor and intellectual deficit,
hypotonia, occasionally brain abnormalities, e.g. macrogyria, cerebral atrophy, absent corpus callosum.
Multiple sulfatase deficiency: Ataxia, hydrocephalyAarge
ventricles, hypertonia, intellectual deficit. seizures, spasticityfincreased tendon reflex.
Neu-Laxova syndrome: Microcephaly,lissencephaly,absence
ofcorpus callosum, cerebral atrophy, occasional hydranencephaly.
Oculo-dento-digital syndrome: Neurological dysfunction,
including hyperactive deep tendon reflexes, ataxia.

Oculo-encephalo-hepato-renal syndrome: Ataxia, cerebellar

abnormalities, extnpyramidal disorder. hydrocephaly,'
large ventricles, intellectual deficit. seizures, spasticity/
increased tendon reflex.
Olivopontoneocerebellarhypoplasia: Cerebellar abnormalities, cerebral atrophy/myelin abnormality. cxtrapynmidal
disorder. joint contractures. intellectud deficit. microcephaly, seizures, spasticityfincreased tendon reflex.
ttemors.
Oro-facio-digital syndrome type 111: Intellectual deficit, variable CNS abnormalities; occasionally hydrocephalus.
seizures, brain malformations.
Patau syndrome (trisomy 13 syndrome):
I~oloprosencephaly-type
defect with varying degrees o f
incomplete development o f forebrain and olfactory and
optic nerves: seizures, severe intellectual deficit. .
Sometimes hypertonia. hypotonia. agenesis of corpus callosum, hydrocephalus, fusion.of basal ganglia, certtbellar
hypoplasia, myelomcningocele.
Rhizomelic chondrodysplasia punctata: Intellectual deficit
with or without spasticity, microcephaly.
Hubinstein-'IBybi syndrome: Absence o f corpus callosum,
intellectual deficit, seizures.
Sjiigren-lnrsson syndrome: Intellectual deficit and sputicity, especially of the lower limbs.
'liisomy 13 syndrome (see Patau syndrome)
Trisomy 18syndrome (see Edward syndrome)
'Iiisorny 2Op syndrome: Mild-moderate intdkcrual dcticit.
hypotonia. poor coordination, ataxia. tremor.
von llippel-Lindau syndrome: Cerebellar haemangioblastoma, most commonly in conical area o f cerebellum,
occasionally in spinal cord or elsewhere in brain. Ataxia.
Xerodermic idiocy syndrome (see de Sanctis-Cacchione
syndrome)
W s y n d r o m e (see Klinefelter syndrome)
N o t historically excludcd from a11 ccrcbrA palsy rcgistcrs
APPEN1)IS

,\2
'

Syndromes in which hypotonia in association with

intellectual disability can be a feature. historically
excluded:
18p-syndrome: Hypotonia, mild microcephaly. intellectual
deficit.
.
Carpenter syndrome: Intellectual deficit, brachycephaly.
Cerebro-hepato-renal syndrome (Zellweger syndrome):
Hypotonia, variable seizures. b n i n malformations.
Cohen syndrome: Intellectual deficit, microcephaly, persisting hypotonia and weakness.
Cri-du-chat syndrome: Intellectual deficit, microcephaly,
hypotonia.
Down syndrome (trisomy 2 1 syndrome): Intellectual deficit,
hypotonia.
Dubowitz syndrome: Mild-moderate intellectual deficit,
mild microcephaly.
Joubert syndrome: Partial agenesis of cerebellar vermis.
Pitt-Hopkins syndrome: Intellectual deficit, hypotonia,
microcephaly, epilepsy, facial dysmorphisms.
Prader-Willi syndrome: Hypotonia - severe in early infancy,
intellectual deficit.
Schwachman syndrome (Schwachman-Diamond syndrome): Hypotonia, decreased IQ.

What Constitutes Cerebral Palsy? Nadia tkzdaurietaf. 523

'liisorny 2 1 syndrome (see Down syndromk)

Williams syndrome: Mild neurological dysfunction. intellectual deficit. mild microcephaly.
Zellweger syndrome (see cercbro-hcpato-renal syndrome)

Appendix B
Syndromes sometimes (but not alw;iys) associated with ;I
motor impairment. which historically have k e n included:
Absent septum pellucidum: I iydranencep1i;ilyiporenccphaly, migration abnormalityiheterotopia, seizures.
spasticity/increased tendon reflex.
Allan-Herndon syndrome: Severe intellecJual deficit.
dyxinhria, at;Lxi;i, athetoid movements. muscle hypoplasia, spastic pardplegia with hyperretlexia.
Arginase deficiency: At~xia.cerebral atrophylmyelin ;ibnormalit): dementia. extrapyramidal disorder, intellectual
clcticit. microcephalp seizures.sp;isticirylincr~icscdtcndon reflex.
Behr syndrome: Intellectual deficit with optic atrophy, at;Luia. spasticity and posterior column loss. N o t pogressise.
Congenital rubella syndrome: consequence of maternal
infection resulting in various developmental abnormalitics such as cardiac and ocular'lcsions. deafness, microcephaly, intellectual deficit.
Corpus striatuni syndrome (neuronal ccroid lipofuscinosis; also Vogt's disease): Frequently associatctl with
birth trauma, characterized by bilateral athctosis. walking difficulties, spasmodic outbursts of laughing or crying, speech disorders, excessive niyclination o f the
nerve fibers o f the corpus srintum giving it a msrh1t.d
appearance.
fnclemic cretinism (fetal iodine deficiency): Intellectual
deficit, spastic diplegia. deafness, strabismus, nystagmus.
Fetal cytomcgalovirus infection (ChW): Microccphdy, intcllectual deficit. seizures. spasticityi'incrcased tendon reflex.
Fetal iodine deficiency (see endemic cretinism)
Fetal methyl mercury poisoning (Minamata disease):
Microcephaly aberrant muscle tone. deafness, blindness.
Fryns syndrome: Cerchral atrophy/myelin ahnormality.
hypotonia, joint contractures, intellectual dcficit. microcephaly, seizures. spasticity/increasetl tendon reflex.
Lysosonial storage disorder (Salla disease): Ataxia common,
cerebrdl atrophyimyelin abnormality, dementia, hypertonia, intellectual deticit. seizures. spasticity/incrr;iscd tcndon reflex.
Microcephaly-chorioretinop;lthy: Hypertonia, intellectual
deficit, seizures. spasticiryiincrcased tendon retlcx.
Autosomal recessive syndrome.
1Microccphaly-intracranialcalcification: Cerebral atrophy/
myelin abnormality, lissencephaly, intellectual deficit,
seizures, spasticity/inrreased tendon retlex.
Minamata disease (see fetal methyl mercury poisoning)
Mxmmd ceroid lipofuscinosis (we corpus striatum syndrome)
Oculo-renal-cerebellar syndrome: Cerebellar abnormalities,
intellectual deficit, spasticity/increascd tendon reflex.
Hett syndrome: Neurodevelopmental disorder occurring
exclusively in females. Autistic behaviour, ataxia, dementia, seizures. loss of purposeful use of the hands. cerebr;il
atrophy.
Salla disease (see Iysosomal storage disorder)

Schinzel-Giedion syndrome: Profound intellectual deticir,

seizures, opisthotonus, spasticity.
Smith-Iemli-Opitz syndrome:Variable altered muscle tone
(may be hypotonic in early infancy with tendency to
become hypertonic with time), intellectual deficit, seizzres.
Sulphite oxidase deficiency: Neonatal seizures, spasticity,
intellectual deficit, dislocated lenses. Motor disorder likrly to be staiic; condition underdiagnosed.
'liisomy 4p syndrome: I Iypertonia during infancy followed
by hypotonia, seizures.
'lioyer syndrome (familial spastic diplegia)
Vogt's disease (see corpus striatum syndrome)
X-linked hydrocephalus syndrome: Intellectual deficit ;ind
sp;isticity, especially o f the lower limbs.
X-linked microcephaly: Microcephaly, spasticity (diplegia o r
quadriplegia), epilepsy sometimes intellectual tlcticit
and tleafncss.

Appendix C
Syndromes which produce secondary motor impairment
d u e t o vascular o r metabolic defects are included. I f the
causes o f such motor inipairmcnr arc recurrent, the syndrome may he described ;is progressive, though i t is not
(legcnerative and should be included:
(;lutaryl-coenzyme A dehydrogenase deficiency: Encephalitis
following normal development. 'Progressive' tlystonia.
1 lomocystinuria syndrome: Neurological defect, especially
spasticity, often asymmetric - presum;ibly the consequcnce o f vascular thrombosis.
Maple syrup urine disease:A genetic aminoacidop;ithy d u e
t o an enzyme deticicnc-y causing severe kctoacitlosis and
producing death in about 50%o f newborn infants.
seizures. coma. physical. and mental dis;ibility
MethylmaIonic ;icidaemia
Moyamoya disease: Cerehtal ischaemia clue t o occlusion
and small haemorrhages from nipturc of an ahnorm;il
network ofvesscls at the base o f the brain, causing neurological disability.
Partial NADH dchytlrogenase tleficienc-y: Sp;isticity tleveloping ;ithetoid movements about age 5. 'progressive' loss o f
motor skills, cerebral dyshinction.
Sturge-\\'cber syndrome: Cerebral haemangiomata with
secondary cerebral cortical atrophy; seizures. paresis.
intellectual deficit.

Appendix D
Progressive and neuromuscular disorders, excluded by dcfinition:
Albright's hereditary osteotlystrophy: Hypocalcaemia 1e;iding to seizures.
Alexander's disease: I Iydroccphaly/large ventricles. intellcctual defici t, dementia, seizures. spasticity/incrc;tsed tendon reflex.
AlUpcr's disease (poliodystrophia cercbri): Degenerative.
Amyoplasia congenita (see arthrogryposis)
Anhrogryposis (classical, arthrogryposis multiplex congenita, myodystrophia fetalis deformans. aniyoplasia congenita): Neuromuscular.
Ataxia-telangiectasia (I.ouis-Bar syndrome): Degenerative.
Progressivearaxia, intellectual deficit.

( h a v a n syndrome: Rare spongy degeneration of the

brain. Onset within first few months of life; death usually before age 3 years though protracted type known.
Early hypotonia, poor head control, poor suck, spasticity. optic ;itrophy, seizures developing, intel1ectu;il
deficit.
Carbohydrate-deficient glycoprotein syndrome: Early hypotonia and developmental retardation followed by ataxia,
muscular atrophy, dysequiIibrium/dyskinesia, arcflexin.
contrxturcs. kyphoscoliosis.toe-walking, pinching
grasp. retinitis pignientosa. intellectual dcticit.
(:erebro-t~ulo-facio-skeletrrlsyndrome (COFS):
Generalized hypotonia with hypo- o r aref1exi;i. microcephaly. Apparently degenerative.
Cockaync syndrome: Senile-like changes from infancy intellectual deficit, weakness with peripheral neuropathy.
Fucositlosis: Cerebral atrophyimyclin abnormality, joint
colitractures, intellectual deficit. seizures,
spasticityhcreased tendon reflex.
Globoitl cell Ieucodystrophy (see Krabbe's disease)
Glutaric acitluria type I: Ataxia, cerebral atrophyjmyelin
abncwmality, cxtrapyraniirlal disorder.
hydroccphalyhge ventricles, hypotonia, intellectual
deficit, seizures, spasticiry/increasetl tendon retlcx.
I Iallcrvorden-Spatz syndrome: Cerebral atrophy!myclin
abnorniality, dcmentirr. extrapyramidal disorder. nystagnius. pons/mctluIl;i~ha~al
ganglia abnormality, seizures.
spasticity!increascd tendon rcllex.
Hunter syndrome (mucopo1ysacch;iridosis type 11): Mental
antl neurological deterioration :it;ipproximatcly 2 to 5
years of age, progressing to severe intellcctual deficit,
aggressive hyperactive hehavictur and spasticity.
Hurler syndrome (mucopolysaccharidosis type I):
Progressive niental and physical deterioration.
Krabbe's disease (globoid cell Ieucodystrophy):
Uegencrative. I.ysosom;il storage disease beginning in
infancy with irritability antl rigidity progressing t o
seizures, quadriplegia, blindness. deafncs~.and progressive ment;il deterioration.
Leigh's disease (subacute necrotizing encrphalomyclopathy): Degeneration ofgrey matter, slow or :wrested development. hypotonia, seizures, abnormal movements.
<lementi;i, death usually occurring bcfore age 3 years.
I.esch-Nyhan syndrome: Abnormal gait. extrapyramidal tlisorder. intellectual deficit. spasticity/increawd tendon
reflex.
I.ouis-Bar syndrome (see ;it;Lxia-telangiectasia)
NlarincsctrSjiigren syndromc: Ikgenerativc. Intellectual
deficit. cerebellar ataxia, \veakness with o r without hypotonix
Menkes syndrome: Severe degenerative. tlypenonia.
seizures. irritability. intracerebral hacniorrhages.
Morquio syndrome (niucolipitlosis type rv): Degenerative.
Main features arc intellectual deficit, clouding of corneas;
hypenonia, hypotonia. extrapyramitlal disorder may be
present.
Mucolipidosis typc IV (see Morquio syndrome)
Mucopolysaccharidosis type I (see Hurler syndrome)
Mucopolysaccharidosis type I1 (see Hunter syndrome)
Mucopolysaccharidosis typc 111 (see Sanfilippo syndrome)
Myodystrophia fetalis deformans (anhrogryposis):
Neuromuscular.

Neurolibroniatosis (von Recklinghausen syndrome):

Progressive neuromuscular.
Pelizaeus-Merzbacher disease: Slowly progressive familial,
leucoenccphalopathy. Ataxia, tremor, choreoathctoid
movements. mental deterioration.
Sanfilippo syndrome (niucopolysaccharidosis type 111):
Limited movement/fledon deformity of elbow, macrocephaly, intellectual deficit, spxsticityhncreased tendon

retlcx.
Schwam syndrome: Myotonia. progressive from infancy.
Sialidosis type 2: Ataxia. dementia, intellectual deticit.
seizures, spasticityiincrcased tendon wflcx.
Spinal muscular atrophy (W'erdnig-Hoffman syndrome):
Progressive disease of motor cells of the spinal cord.
Subacute necrotizing t.ncephaloniyelopathy (see I.cigh's
disease)
Tuberous sclerosis: Ikgmerative. Gliomi-angioma lesions
in cortex and white matter. usually\vith seizures and
intellectual deticit; oftcn intracranial mineralization in
basal ganglia or periventricular region.
ifon Recklinghauscn syndrome (see neurofibroniatosis)
Weaver syndrome: Mild hypenonia, progressive spasticin;
occasionally hypotonia. Cyst in septuni pelluciduni, cerebral atrophy. enlargcd vessels and hypervscularization in
areas of middle and left posterior cerebral arteries.
\Y'crdnig-Hoffman syndrome (see spinal muscular atrophy)
\Y'olnian acid lipase deficiency: Intellcctual deficit, spasticityhncreascd tendon rellex.
Xerotlcrma pignientosa syndrome: Slowly progressive neurological abnornialities sometimes ass;xiated \vith nientat deterioration. Cerebral atrophy. Chorcoathetosis.
atzxia. anti spasticity

Index to appendices A-D

.S)*tulrmttt~

18p-syndrome
Ahsent septum pcllucidum
rU bright's hereditan. o~tcotlysrropliy
hlexandcr's disease
tUlan-t~krntlonsyndrome
Alpcr's disease (pnlitdysirnphi;i ccrcbri)

Amyoplasia congcnitn (see anhrogFposis)

hngclmans! ndromc (Happy puppet

syndrome)
Apcn syndrome (;irrorepli;ilosyntlartyly)
Arginasc delicicnq

Arthrngnposis (clissical. anhrojinposis

multiplex congcnitn. niyodystrophiafct31is
deformans.aniyoplnsia rnnjicnirn)
At;Luii-tc13ngicc-rnsin(l.oui+Bir >yntlromc)
Atclenccphdy
t)ailcr-Gcroiti syndrome
Behr syndrome

Bltx3-Subhcrgcr syndrome (ir1conrincnri:t

pigmrnti)
(:anwan syndrome

(:irhoh~ilr~te-<lcficicnt
glycoprotcin syndrome
Carpenter syndmmc
Cerebro-hepxro-rendsyndrome (Zcllwcgcr

syndrome)

What Constitutes Ccrebrd Pilsy? rVrtrlirt Budarc+et ul. 525

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Ccrehro-wulcrhcio-skeletal syndrome (COFS)

Cockayne syndrome
Cohen syndromc
Congenital ruhclla syndrome
Cornelia d e langc syndrome (de I.ange
syntlromc)
Corpus striaturn syndrome (ncuronal ccroid
lipofuscinosis, Vogt's disease)
Cri-du-chat syndronie
dc 1;tnge syndrome (see Cornelia de Lmge
syndromr)
d c Sanctis-Cacchione syndrome (xerotlermic
idiocy syndrome)
Ilown syndrome (trisomy 2 1syndrome)
Dubowirz syndrome
Eclward syndrome (rrisomy I8 syndrome)
Endemic cretinism (fetal iodine dcticicncy)
Fetal cyomcgalovirus infection (CMV)
Fctal iodine deficiency (see cndemic cretinism)
k t a l methyl mercu? poisoning (see Minimat:i
disease)
Fryns syndrome
I%m,sitlosis
Globoid cell Icurocfysrrophy (seeKmhhr's
disease)
Glutaric aciduria "pe 1
Glutaryl-coeqnie A dchytlrogenasc tlelicicncy
1-l;illcnordcn-Span syndrome
tkippy puppet syndrome (see Angclman
syndromc)
Homocvstinurii syndrome
Huntrrsyxlromc (mucopol~saccharitlosistv-x 11)
Hurler syndrome (mucopolysiicchariclosistype I)
Incontinentia pignicnti syndrome (see
Uloch-Subbcrger syndrome)
J o u b m syndrome
Klincfclter syndrome (XXTsyndrome)
Klippcl-Fcil anomalatl
Krabbe's disease
I x s e n syndrome
1.aursrice-Moon syndrome
Leigh's disease (subacute necrotizing
cncrpha1c)myrlopathy)
Lrnz microphthalmia
lrsch-N yhan syndrome
Louis-Bar syndrome (see at;ucia-tclan~iectasisia)
Lysosomal storage disorder (Salla disease)
Marinesco-Sjogren syndrome
Marshall-Smith syndrome
Menkcs syndrome
Micrtxcphaly-chorioretinopathy
Microcephaly-intncranial calcification
Minamata disease (see fetal methyl mercury
poisoning)
Morquio syndrome (mucolipidosis type 1V)
Moyamoya disease
IMucolipidosis 'ypeIV (see Morquio 3yndrome)
Mucopolysaccharidosis type I (see Hurler
syndrome)
Mucopolysaccharidosis type I I (see Hunter
syndrome)
Mucopolysaccharidosis type 111 (see Sanfilippo
syndrome)
Multiplc sulfatase deficiency
Myodystrophia fetalis deformans
(anh r o wposis)
Neurofibromatosis (von Reeklinghausen
syndrome)

526 DevelopwietitalMedicineC CbildNerrmlogy 1998.40: 520-527

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Neu-Laxova syndrome
Neuronal cerebroitl lipofuscinosis (see corpus
striatum syndromc)
Oculo-dcnto-digital syndrome
Oculo-encephalo-hcpato-renal syndrome
Oculo-renal-cerebcllar syndromc
Oli~~opontonec~cercbeltar
hypoplxsia
Om-Etcio-digital syndrome type 111
h n i a l NAI)H dehydrogenase deficiency
Patau syndrome (trisomy 13 syndrome)
Pclizaeus-hlenbachrr disease
Pitt-I lopkins syndrome
Prader-Willi syndrome
R c t t syndromc
Rhizomrlic chondrtdysplasia punctata
Hubinstein-Taybi syndrome
Salla disease (see lysosomal storage disordcr)
Sanfilippo syndrome (mucopolysaccharitlosis
type 111)
Schinzrl-Giedion syndrome
Schnachman syndrome
(Schwichman-1)ianiond syndrome)
Schw a rtz syn d romc
Si:~litlosistype 2
Sjtigrcn-l.ansQn syndrome
Smith-Lemli-Opitz syndrome
Spinal muscular atrophy (Werdnig-Hoffman
syndrome)
Sturgc-\Veber syndrome
Suhacute nccrotizing cncephalomyclopathy
(see 1.eigh's disease)
Sulphitc oxidasc tlsficiency
l'risomy 4p syndrome
Trisomy 13 syndrome (see Patau syndrome)
somy 18 syndrome (we Edn.ard syndrome)
Trisomy 20p syndrome
'Irisomy 2 I (see Down syndrome)
l'royer syndrome (familial spiutic tliplegia)
Tuberous sclerosis
Vogt's diseasc ( w e corpus siriatum syndrome)
von I iippel-l.indau syndrome
von Rccklinghausen syndrome (see
neumfibromatosis)
I
\Yeaver syndrome
\\'erdnig-Hoffman syndrome (scc spinal
muscular atrophy)
Williams syndromc
Q'olman acid lipasc deticiency
X-linked hydrocephalus syndrome
X-linked mirrocrphaly
Xeroderma pigmentosa syndrome
Xcrodemic idiocy syndrome (see d e
Sanctis-Cacchione syndrome)
XXY syndrome (see Klinefelter syndrome)
Zellweger syndrome (see cercbro-hepato-renal
syndrome)

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forms of hcretlitaly spastic panplegia prescnting in childhood.
Ikwefopnientd Aledicitiemid CbifdNeitrology33:jQ4- 12.
Balf CL, Ingram TIS. ( 1955) Problems in the classification of
cerebnl palsy in childhood. British hler~icrr~Jolrnial2:
163-6.
B~J:
MCO. (1964) Terminology and classification ofccrebrd palh~.
Developttietitaf Mediciiie mid Child Ncitrofo.gy6: 295-307.
Hagberg R.(1995) Rett syndrome: clinical peculiarities and
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-I Iaglxrg G . (1989)The changing panorama of infantile
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11: 368-73.
Hughes 1. Newon R. (1992) Gcnetic aspects of cercbnl palsy
De~vfopitieiitaljlledicitie a r i d CbiId Nertroloy). 34: 80-6.
Ingram TTS. (1984) A historical review ofthe definition and
classification of the cerehrd palsies.In: Stanley F.Alkrman F..
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l~e~.rlopnieirtulrll~~dicitrc~
No. a?. 1.ondon: Spastics International
Mrdicai Publications. p 1-1 1.
Kurland 12.. (1957) Definitions o f cercbrd palsy and their role in
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lMemorindum o n ternminology and classification of ccrchnl
palsy. CerebralPalsy Uirlletiti 1: 27-3j.
Minear \VI.. ( 1956) A clnssificntion of cerebral palsy. fediafrics
18: Hil-52.
Mutch L, Mbcrman E. flagberg U. Kodama K, Velitkovii:Pcrat M.
(1992) Cerebral palsy cpidemiology: wherc are we now and
mid Child
where are we going?DeoeIopttie!italMc~liciti~~
hcvtrofog)~
34: 547-55.
Nelson KB, liller~hcrgJH.( 1978) t.:pidemiologyofccrebnlpalsy,

r\dtruirces in ~Vr.itn)k)gy
19: 421-35.
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What Constitutes Cerchd Palsy? hadia Baduufiet al.

527