What constitutes cerebral p lsy? 7 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 MD FFPI-1M IAFPHM MFCCH FRACP FRACO(;. Ilirector. 'IMV Telethon Institute for Child I lealth Ilesearch. Perth, Western Australia.

'l'hr 1WV 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 contrib- utors (listed below) who 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 no 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 clini- cal 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 con- sensus 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 cri- teria, 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 chro- mosomal 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 diagnos- tic 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 preva- lence in different populations. Registers may also be used to identify subjects for collaborative studies. For these objec- tives aclear, valid, stable, and reproducible definition ofCP is essential. If children in whom the origin o f their motor tlisor- tler 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 infor- mation being clearly coded to enable their exclusion should the objectives require it.

In this paper we attempt t o define criteria for the inclu- sion and exclusion o f caseson a CY register and hope t o stim- ulate 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 consid- ered 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 on all cases held on 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 henwen 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 done so, and many progressive and

other syndromes not considered t o he 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 func- tional disability Some centres have chosen to collect nioder- ate 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 untlcrascer- tainctl and most likely t o include contentious borderline cases. Further discussion t o reach a consensus o n standard- ization of severity criteria is needed.

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 congcni- tal CNS anomalies. CP 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 con- tinue 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 de Imge and Sjiigrcn-larsson syndromes) (see Appendix A). Conversely, those which historically have been included. though now identifiable by modern techniques as a syn- drome with a known cause, should continue t o be inclutled (e.g. some partial trisomies and deletions. X-linked hydro- cephalus 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 to 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 neurodc- velopment;il disorder rather than a neurodegcnerativc o r neuronictabolic condition (Hagberg 1995).

As the phenotype varies between individuals with a par- ticular 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 syn- drome is easily recognizable clinically and has historically been included on 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 or 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.

Conditions which may be excluded

'There is disagreement about whether the rare casesof hypo- tonia in isolation (as distinct from dystonia) should be con- sidered 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.

I IYPOl' ( )S I,\

(; 1:s l i l . l ( . S I ' V I ) R ( ) , M I 3 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 O R l ) 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 \ \ i l l exclude many metabolic conditions such as glutaric aciduria and mito- chontlrial 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 regis- ter data t o a later age \vould be required to identify later pro- gression. Iknvever. motor damage which results from any single episode of metabolic decompensation is. in itself. sta- tic (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-vas- cular 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 rec- ognized syndrome or (particularly for hypotonia) to intel- lectual disability.

ENCIPHAl.0CEI.E

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

Conditions which are always excluded

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)).

NEIIHOL)IGENEHATIVE C:ONDITIONS

h't$HO.\Il~S(.L~I.;\H L)ISOHI)t

Appendix A Easily identifiable syndromes associated with motor impair- ment which historically have been excluded.

APPEN1)IX A 1 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~yelin abnormality, hydranencephaly/porencephaly, hydrocephalyAarge ven- tricles. lisxncephaly, intellectual deficit. seizures, spasici- ty/increased tendon .reflex.

defects.

Approximately one-third have intellectual deficit, micro- cephaly, spasticity and/or seizures.

hypcrtonicity.

Baller-Gcrold syndrome: Craniosynostosis with radial

Bloch-Sulzberger syndrome (incontinentia p ipent i ) :

Cornelia de Lange syndrome (dc 1:ange syndrome): Initial

de lnnge syndrome (see Cornelia de Imge syndrome) de Sanctis-Cacchione syndrome (xerodermic idiocy syn-

drome): Microcephaly. intellectual detick and detrriora- tion 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 per id) . 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

Klinefelter syndrome (XXY syndrome): Occasionally

Klippctl-Feil anomalad: Primary or secondary neurological

syndrome)

mild-moderate ataxia.

defects such as paraplegia, hemiplegia, cranial, or cervical nerve palsies.

due to vertebral segmentation abnormalities. Autosomal recessive.

Laurence-Moon syndrome: Ataxia, intelIectuaI deficit, spas- ticity/increased tendon reflex.

Lenz microphthalmia: Microcephaly. intellectual deficit, spasticityhncreased tendon reflex.

MarshallTSmith syndrome: Motor and intellectual deficit, hypotonia, occasionally brain abnormalities, e.g. macro- gyria, cerebral atrophy, absent corpus callosum.

ventricles, hypertonia, intellectual deficit. seizures, spas- ticityfincreased tendon reflex.

Neu-Laxova syndrome: Microcephaly, lissencephaly, absence ofcorpus callosum, cerebral atrophy, occasional hydranen- cephaly.

Oculo-dento-digital syndrome: Neurological dysfunction, including hyperactive deep tendon reflexes, ataxia.

l a w n syndrome: Multiple joint dislocation. quadriplegia

Multiple sulfatase deficiency: Ataxia, hydrocephalyAarge

Oculo-encephalo-hepato-renal syndrome: Ataxia, cerebellar abnormalities, extnpyramidal disorder. hydrocephaly,' large ventricles, intellectual deficit. seizures, spasticity/ increased tendon reflex.

Olivopontoneocerebellar hypoplasia: Cerebellar abnormali- ties, cerebral atrophy/myelin abnormality. cxtrapynmidal disorder. joint contractures. intellectud deficit. micro- cephaly, seizures, spasticityfincreased tendon reflex. ttemors.

Oro-facio-digital syndrome type 111: Intellectual deficit, vari- able CNS abnormalities; occasionally hydrocephalus. seizures, brain malformations.

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 cal- losum, 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 sputici- ty, especially of the lower limbs.

'liisomy 13 syndrome (see Patau syndrome) Trisomy 18 syndrome (see Edward syndrome) 'Iiisorny 2Op syndrome: Mild-moderate intdkcrual dcticit.

hypotonia. poor coordination, ataxia. tremor. von llippel-Lindau syndrome: Cerebellar haemangioblas-

toma, 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)

Patau syndrome (trisomy 13 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. bnin malformations.

Cohen syndrome: Intellectual deficit, microcephaly, persist- ing 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,

Prader-Willi syndrome: Hypotonia - severe in early infancy,

Schwachman syndrome (Schwachman-Diamond syn-

'

microcephaly, epilepsy, facial dysmorphisms.

intellectual deficit.

drome): Hypotonia, decreased IQ.

What Constitutes Cerebral Palsy? Nadia tkzdaurietaf. 523

'liisorny 2 1 syndrome (see Down syndromk) Williams syndrome: Mild neurological dysfunction. intellec-

Zellweger syndrome (see cercbro-hcpato-renal syndrome) tual deficit. mild microcephaly.

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;ilyiporen-

ccphaly, migration abnormalityiheterotopia, seizures. spasticity/increased tendon reflex.

dyxinhria, at;Lxi;i, athetoid movements. muscle hypopla- sia, spastic pardplegia with hyperretlexia.

Arginase deficiency: At~xia. cerebral atrophylmyelin ;ibnor- malit): dementia. extrapyramidal disorder, intellectual clcticit. microcephalp seizures. sp;isticirylincr~icscd tcn- don reflex.

Behr syndrome: Intellectual deficit with optic atrophy, at;Lu- ia. spasticity and posterior column loss. N o t pogressise.

Congenital rubella syndrome: consequence of maternal infection resulting in various developmental abnormali- tics such as cardiac and ocular'lcsions. deafness, micro- cephaly, intellectual deficit.

nosis; also Vogt's disease): Frequently associatctl with birth trauma, characterized by bilateral athctosis. walk- ing difficulties, spasmodic outbursts of laughing or cry- ing, speech disorders, excessive niyclination o f the nerve fibers o f the corpus srintum giving it a msrh1t.d appearance.

deficit, spastic diplegia. deafness, strabismus, nystagmus.

lectual deficit. seizures. spasticityi'incrcased tendon reflex.

Allan-Herndon syndrome: Severe intellecJual deficit.

Corpus striatuni syndrome (neuronal ccroid lipofusci-

fnclemic cretinism (fetal iodine deficiency): Intellectual

Fetal cytomcgalovirus infection (ChW): Microccphdy, intcl-

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. micro- cephaly, seizures. spasticity/increasetl tendon reflex.

Lysosonial storage disorder (Salla disease): Ataxia common, cerebrdl atrophyimyelin abnormality, dementia, hyperto- nia, intellectual deticit. seizures. spasticity/incrr;iscd tcn- don reflex.

Microcephaly-chorioretinop;lthy: Hypertonia, intellectual deficit, seizures. spasticiryiincrcased tendon retlcx. Autosomal recessive syndrome.

1Microccphaly-intracranial calcification: 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 syn-

drome) Oculo-renal-cerebellar syndrome: Cerebellar abnormalities,

intellectual deficit, spasticity/increascd tendon reflex. Hett syndrome: Neurodevelopmental disorder occurring

exclusively in females. Autistic behaviour, ataxia, demen- tia, seizures. loss of purposeful use of the hands. cerebr;il atrophy.

Salla disease (see Iysosomal storage disorder)

Schinzel-Giedion syndrome: Profound intellectual deticir,

Smith-Iemli-Opitz syndrome: Variable altered muscle tone seizures, opisthotonus, spasticity.

(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 l ikr- ly to be staiic; condition underdiagnosed.

by hypotonia, seizures. 'liisomy 4p syndrome: I Iypertonia during infancy followed

'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 due t o vascular o r metabolic defects are included. I f the causes o f such motor inipairmcnr arc recurrent, the syn- drome 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 conse- qucnce o f vascular thrombosis.

Maple syrup urine disease: A genetic aminoacidop;ithy due 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 neuro- logical disability.

Partial NADH dchytlrogenase tleficienc-y: Sp;isticity tlevelop- ing ;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 dcfi- nition: Albright's hereditary osteotlystrophy: Hypocalcaemia 1e;id-

ing to seizures. Alexander's disease: I Iydroccphaly/large ventricles. intellcc-

tual defici t, dementia, seizures. spasticity/incrc;tsed ten- don reflex.

AlUpcr's disease (poliodystrophia cercbri): Degenerative. Amyoplasia congenita (see arthrogryposis) Anhrogryposis (classical, arthrogryposis multiplex congeni-

ta, myodystrophia fetalis deformans. aniyoplasia congeni- ta): Neuromuscular.

Progressive araxia, intellectual deficit. Ataxia-telangiectasia (I.ouis-Bar syndrome): Degenerative.

( h a v a n syndrome: Rare spongy degeneration of the brain. Onset within first few months of life; death usu- ally before age 3 years though protracted type known. Early hypotonia, poor head control, poor suck, spastici- ty. optic ;itrophy, seizures developing, intel1ectu;il deficit.

Carbohydrate-deficient glycoprotein syndrome: Early hypo- tonia and developmental retardation followed by ataxia, muscular atrophy, dysequiIibrium/dyskinesia, arcflexin. contrxturcs. kyphoscoliosis. toe-walking, pinching grasp. retinitis pignientosa. intellectual dcticit.

Generalized hypotonia with hypo- o r aref1exi;i. micro- cephaly. Apparently degenerative.

Cockaync syndrome: Senile-like changes from infancy intel- lectual deficit, weakness with peripheral neuropathy.

Fucositlosis: Cerebral atrophyimyclin abnormality, joint colitractures, intellectual deficit. seizures, spasticityhcreased tendon reflex.

(:erebro-t~ulo-facio-skeletrrl syndrome (COFS):

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. nystag- nius. 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 progres- sive ment;il deterioration.

Leigh's disease (subacute necrotizing encrphalomyclopa- thy): Degeneration ofgrey matter, slow or :wrested devel- opment. hypotonia, seizures, abnormal movements.

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Ccrehro-wulcrhcio-s keletal 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) dc Sanctis-Cacchione syndrome (xerotlermic idiocy syndrome) Ilown syndrome (trisomy 2 1 syndrome) 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 (see Kmhhr'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~saccharitlosis tv-x 11) Hurler syndrome (mucopolysiicchariclosis type I) Incontinentia pignicnti syndrome (see Uloch-Subbcrger syndrome) J o u b m syndrome Klincfclter syndrome (XXT syndrome) 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 'ype IV (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 (an h r o w posis) Neurofibromatosis (von Reeklinghausen syndrome)

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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 Rct t syndromc Rhizomrlic chondrtdysplasia punctata Hubinstein-Taybi syndrome Salla disease (see lysosomal storage disordcr) Sanfilippo syndrome (mucopolysaccharitlosis

Schinzrl-Giedion syndrome Schnachman syndrome (Schwichman-1)ianiond syndrome) Sc hw a rtz sy n d romc Si:~litlosis type 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)

Trisomy 20p syndrome 'Irisomy 2 I (see Down syndrome) l'royer syndrome (familial spiutic tliplegia) Tuberous sclerosis Vogt's diseasc (we corpus siriatum syndrome) von I iippel-l.indau syndrome von Rccklinghausen syndrome (see neumfibromatosis) \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 de Sanctis-Cacchione syndrome) XXY syndrome (see Klinefelter syndrome) Zellweger syndrome (see cercbro-hepato-renal syndrome)

type 111)

somy 18 syndrome (we Edn.ard syndrome)

I

,

References Appleton RE, Farrell K, Dunn HG. (1991) Purc and complicated

forms of hcretlitaly spastic panplegia prescnting in childhood. Ikwefopnientd Aledicitie mid Cbifd Neitrology 33: 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.gy 6: 295-307.

Hagberg R. (1995) Rett syndrome: clinical peculiarities and biological mysteries. Actu Puediatricu 84.97 1-6.

- I Iaglxrg G . (1989) The changing panorama of infantile hydrocephalus and cerebral palsy over forty ycan - a Swedish survcv. Braiti mid I~eidr)p~irent 11: 368-73.

Hughes 1. Newon R. (1992) Gcnetic aspects of cercbnl palsy De~vfopitieiital jlledicitie 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.. editors. The Epidettiiofogy of tile Crrebrrtf Prrfsies. Cfitiics iti l~e~.rlopnieirtulrll~~dicitrc~ No. a?. 1.ondon: Spastics International Mrdicai Publications. p 1-1 1.

cpidcmiologic rcsexrch. hcrttwlogy 7: 64 1-54,

lMemorindum on ternminology and classification of ccrchnl palsy. Cerebral Palsy Uirlletiti 1: 27-3 j.

Kurland 12.. (1957) Definitions o f cercbrd palsy and their role in

I.ittle Club. (1959) Mac Keith RC, MacKrnzie ICK. Polani PE. editors.

Minear \VI.. ( 1956) A clnssificntion of cerebral palsy. fediafrics

Mutch L, Mbcrman E. flagberg U. Kodama K, Velitkovii: Pcrat M. (1992) Cerebral palsy cpidemiology: wherc are we now and where are we going? DeoeIopttie!ital Mc~liciti~~ mid Child hcvtrofog)~ 34: 547-55.

Nelson KB, liller~hcrgJH. ( 1978) t.:pidemiologyofccrebnl palsy, r\dtruirces in ~Vr.itn)k)gy 19: 421-35.

POSSUM Venion -4.5. (1996) The Murdwh Institute for Research into Uinh Defects. Flcmington R o d , Yarkvillc. Victoria 3052. Australia (Fax +61 39348 1591).

18: Hil-52.

What Constitutes Cerchd Palsy? hadia Baduufi et al. 527