Archives ofDisease in Childhood 1996;75:448-450

Developmental and behavioural characteristics ofcri du chat syndrome

KM Cornish, J Pigram

AbstractDevelopmental and behavioural charac-teristics were assessed in 27 children withcri du chat syndrome using the Society forthe Study of Behavioural Phenotypesquestionnaire, which gave information onprenatal and perinatal conditions,neurological problems, and developmen-tal and behavioural difficulties. The find-ings suggest that the behavioural profile ofchildren with cri du chat syndrome incor-porates selfinjurious behaviour, repetitivemovements, hypersensitivity to sound,clumsiness, and obsessive attachments toobjects. In terms of a developmentalprofile, children with cri du chat syn-drome were able to communicate theirneeds, socially interact with others, andhave some degree ofmobility.(Arch Dis Child 1996;75:448-450)

Keywords: cri du chat syndrome, learning disability,chromosome disorder, behavioural characteristics.

Room BS5b, Faculty ofMedicine, MedicalSchool, University ofNottingham, Queen'sMedical Centre,Nottingham NG7 2UHKM CornishJ Pigram

Correspondence to:Dr Cornish.

Accepted 7 June 1996

Identifying the behavioural phenotype of indi-viduals with genetically determined disordershas become a strong focus of research in recentyears. Behavioural profiles have now beenestablished for a number of syndromes includ-ing fragile X syndrome,' Noonan's syndrome,2Williams syndrome,' and Turner's syndrome.4These profiles can provide a useful indicator ofthe behavioural characteristics and problemsassociated with a given genetic disorder. Thepresent study describes the behavioural pheno-type of 27 children with cri du chat syndrome,a rare chromosome disorder that affectsapproximately one in 50 000 live births. Thesyndrome is caused by a loss of chromosomalmaterial from the critical region 5p (5p 12) andrepresents one of the most common deletionsyndromes in humans.5 The main clinicalcharacteristics include a distinctive, highpitched 'cat-like' cry6; a round or 'moon facies'with low set ears and asymmetrical facial con-tour5; and respiratory and cardiac abnormali-ties.'While identification of the clinical character-

istics of cri du chat syndrome were firstpublished over 30 years ago, few studies havesought to establish a cognitive and behaviouralprofile of this syndrome. Before 1980 the typi-cal portrayal of the syndrome was one ofprofound mental retardation, limited verbalabilities, and slow psychomotor development.8However, recent studies by Carlin and by Cor-nish have indicated that many children with cridu chat syndrome live at home, interactsocially, and develop some language and motorskills.9 10

The present study describes the develop-mental and behavioural profile of 27 childrenwith cri du chat syndrome. The study formspart of a larger study examining cognitive andadaptive functioning in such children. As far asthe authors are aware this is the first publishedstudy of the behavioural phenotype of cri duchat syndrome.

Patients and methodsPATIENTSThe participants were 27 children with cri duchat syndrome (mean chronological age: 8.3years; age range 4.0-16.0 years; mean mentalage: 4.8 years (age range 2.2-12.4 years); therewere 13 boys and 14 girls). Mental age wasmeasured using the British picture vocabularyscale."

Diagnosis had been established by chromo-somal analyses and physical phenotype. Par-ticipants were recruited via the UK cri du chatsyndrome association. All 27 of the familieswho were contacted participated in the study.

All the children in the sample were living inthe community, none was living in institutionalcare; 16.7% attended a mainstream schoolwith special needs provision; 37.5% attended aschool for mild-moderate learning disabilities;and 45.8% attended a school for severe learn-ing disabilities.

QUESTIONNAIREThe Society for the Study of Behavioural Phe-notypes questionnaire has been developed forthe purpose of obtaining cross syndrome dataand comprises four sections12:(1) Prenatal and perinatal conditions(2) Neurological problems, specifically epi-

lepsy(3) Developmental assessment, including vi-

sion, hearing, mobility, dexterity, feeding,continence, dressing, hygiene, and com-munication

(4) Behavioural domains, including feedingand drinking, sleep, social behaviour,movement activities, difficulties with lan-guage, unusual movements and interests,aggressive behaviour, and anxiety andmood.

All 27 families were questioned during a semi-structured interview when their child partici-pated in an extensive neuropsychological studycarried out by the authors.

ResultsPRENATAL AND PERINATAL CONDITIONSOf the 27 mothers, 10 (37.0%) reported thepresence of an abnormality during theirpregnancy; 12 (44.4%) reported that their

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Cri du chat syndrome

Table 1 Summary of the developmental characteristics ofchildren with cri du chat syndrome (n=27)

Assessment No (%)

Vision/hearingWears glasses 4 (14.8)Wears a hearing aid 0

MobilityCan sit without support 23 (85.2)Walks steadily and normally 5 (18.5)Walks, but not as steadily as other children 10 (37.0)Walks, but activity limited 7 (26.0)No independent walking 5 (18.5)

DexterityGross hand movements 25 (92.6)Fine hand movements 18 (65.4)

FeedingFeeds him/herself:Not at all 1 (3.7)Finger feeds 19 (70.4)Spoon feeds 5 (18.5)Uses knife and fork 2 (7.4)Drinks from an ordinary cup 19 (70.4)

Continence and hygieneToilet trained 7 (25.9)Washes self totally 8 (29.6)

DressingAbility to dress him/herself:

Completely 8 (29.6)With little help 13 (48.1)A lot of help 5 (18.5)Not at all 1 (3.7)

Ability to comunicateHow he/she makes needs known:Does not indicate needs 5 (18.5)Uses non-verbal method 13 (48.1)Uses formal sign or symbol system 2 (7.4)Uses speech 7 (25.9)

baby had had difficulties during the delivery;and, over half of the children in the sample 14(51.8%) needed special care facilities directlyafter the birth.

NEUROLOGICAL PROBLEMSNone of parents in the sample reported thattheir child had had fits or epilepsy.

DEVELOPMENTAL PROFILETable 1 provides a summary of the develop-mental profile.Abnormal vision was present in only four

(14.8%) children and there was no reportedincidence of abnormal hearing. While themajority of all children in the sample had somedegree of mobility, in that 23 (85.2%) could sitwithout support, the ability to walk steadilyand normally was severely impaired with onlyfive (18.5%) children able to walk competently.While gross motor skills (for example, waving)were achieved in 25 (92.6%) of the children,only 18 (65.4%) were competent in fine motorskills (that is, holding a pencil). Twenty six(96.2%) children could feed themselves tovarying degrees and 19 (70.4%) could drinkfrom an ordinary cup. However, fewer than athird of children were toilet trained (seven;25.9%) and only eight (29.6%) were able towash and dress themselves completely at thetime of the assessment. The ability to usespeech to communicate needs was evident infewer than a third (seven; 25.9%) of thechildren, although 15 (55.5%) were able tocommunicate their needs using either non-verbal methods, 13 (48.1%), or formal signs,two (7.4%). Five (18.5%) however wereunable to communicate their needs using anyof the above methods.

Table 2 Summary of the behavioural characteristics ofchildren with cri du chat syndrome (n=27)

Assessment No (%)

FeedingNormal intake offood 19 (70.4)Eating less than normal 3 (11.1)Eating more than normal 5 (18.5)Pica 11 (40.7)Faddy eating 3 (11.1)

SleepRegular sleeping pattern 20 (74.1)

Social behaviourNormal interest in others 10 (37.0)Too friendly with strangers 13 (48.1)Unusual eye contact 12 (44.4)Facial grimacing 9 (33.3)

Activity levelUnderactive 6 (22.2)Normally active 14 (51.8)Overactive 2 (7.4)Clumsy 19 (70.3)Creates chaos aimlessly 13 (48.1)

CommunicationEcholalia 14 (51.8)

Unusual movement and interestsRepetitive movements 19 (70.3)Peculiar object attachment 14 (51.8)Unusual reaction to light/sound/smell 22 (81.4)

Aggressive/self injurious behaviourPhysically aggressive towards:

Family members 9 (33.3)Non-family members 5 (18.5)Self injurious behaviour 19 (70.3)Stubborn 16 (59.2)Deliberately destroys tiings 9 (33.3)

Anxiety/moodExcessively happy 18 (66.6)Excessively unhappy 4 (14.8)Often fearful 4 (14.8)Irritable 10 (37.0)Serious temper tantrums 9 (33.3)

BEHAVIOURAL PROFILETable 2 provides a summary of the behaviouralprofile.There was one characteristic that occurred

in more than 75% of the group and nine char-acteristics that occurred in more than 50% ofthe group: hypersensitivity to sensory stimuli(81.4%), self injurious behaviour (70.3%),repetitive movements (70.3%), clumsy(70.3%), excessively happy (66.6%), stubborn(59.2%), object attachments (51.8%), echola-lia (51.8%), and normally active (51.8%).

DiscussionThe data presented here outline a profile ofdevelopmental and behavioural characteristicsin children with cri du chat syndrome.

DEVELOPMENTAL CHARACTERISTICSIn terms of development, the main weaknessesinvolved those skills that required mobility,dexterity, and verbal communication. Thisfinding was not unexpected and confirms thatreported in earlier studies.7 However, examin-ation of table 1 reveals that far from beingtotally immobile, maladroit and non-communicative, the majority of children hadacquired some degree of mobility, dexterity,and communication skill. For example, grosshand movements, in contrast to fine handmovements, were relatively unimpaired indi-cating an ability to use the hands for such tasksas waving or catching a rolling ball, if not fortasks that involve holding a pencil or puttingpegs into holes. In addition, lack of speech didnot appear to impede communication with

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450 Cornish, Pigram

more than two thirds of the children able tocommunicate their needs using non-verbalmethods. However, relatively few children usedformal sign language, which is suprising givenrecent evidence to indicate that over 50% ofchildren with cri du chat syndrome were ableto use sign language to communicate basicneeds.9 Lack of training in formal signlanguage may have contributed to its low usagein the present study. Early stimulation andintroduction to sign language are thereforecrucial if more effective communication is tobe attained.

BEHAVIOURAL CHARACTERISTICSThe behavioural profile for cri du chatsyndrome appears to be one of self injuriousbehaviour, repetitive movements, obsessiveattachment to objects, hypersensitivity tosensory stimuli, stubbornness, and clumsiness.Notably few children showed autistic charac-teristics (for example, gaze avoidance, socialisolation), feeding or sleep problems, or mooddisorders. What is particularly surprising, how-ever, is the relatively low incidence of hyperac-tivity reported in the present study. Thiscontrasts with an earlier finding by Wilkins et alwhich found that hyperactivity and restlessnesswere major problems in almost half of the 53children assessed in their study."3The extent to which these characteristics are

specific to cri du chat syndrome or shared withother syndrome groups is difficult to measurewithout first ensuring that all samples arematched by intellectual level, sex, age, socialclass, etc. However, in comparison to otherlearning disabled groups, the incidence ofrepetitive movements and self injurious behav-iours in cri du chat syndrome appears to behigher than the incidence reported in, forexample, Down's syndrome (K Cornish, JPigram, unpublished) or fragile X syndrome,'but is comparable with the incidence reportedin disorders such as Lesch-Nyhan syndrome.'4The high rate of hyperacusis reported in

children with cri du chat syndrome is also abehaviour common to Williams syndrome, with arecent survey by Udwin revealing an incidence ofover 90%.3 As in Williams syndrome, childrenwith cri du chat syndrome become distressed at awide range of sounds, including sudden noisesmade from aeroplanes, lawn mowers, a balloonbursting, thunder, etc. As yet, there is littdeevidence of specific auditory abnormalities toexplain this hypersensitivity in cri du chat or Wil-liams syndromes. However, early intervention totry and alleviate the distress caused by this condi-tion is essential if the individual is to adjust intoadulthood.The high rate of clumsiness reported in chil-

dren with cri du chat syndrome is hardlysurprising given the restrictions imposed uponthem by their lack of mobility and is prevalentin most syndromes where motor delay is adominant feature (for example, Lesch-Nyhansyndrome). In contrast, an obsessional attach-ment to objects, which was present in over halfof the children with cri du chat syndrome, iscomparatively rare in other syndrome groups.The exceptions to this are Lowe's syndrome

whose profile also includes repetitive move-ments and self injurious behaviour (althoughnot hyperacusis) (Z Dolinsky, paper presentedat Behavioural Phenotype Study Group Sym-posium, Welshpool, November 1990) and Wil-liams syndrome whose profile also includeshyperacusis (but not repetitive movements orself injurious behaviour).'5 The extent to whichthese obsessions persist into adulthood is notknown but the effects in childhood are suchthat they place significant restrictions uponemotional and cognitive development.While the present study has outlined a

number of behavioural problems associatedwith cri du chat syndrome there are still manyaspects of behaviour that are not as severelyimpaired and these need to be strengthenedand encouraged by parents and professionals.The major limitation appears to be in activitiesand behaviours that require motor skill and itmay well be the high incidence of some of thebehavioural problems in this syndrome resultsfrom its physical constraints.Our study has highlighted some of the devel-

opmental and behavioural aspects of cri duchat syndrome. In particular it has demon-strated the potential of children with thissyndrome to develop and maintain importantskills including ability to communicate needs,to socially interact with others, and to developsome degree of mobility. The extent to whichthese skills continue to develop in adulthood isnot yet known, although considering the sever-ity of the difficulties it is unlikely that adultswith the syndrome will be able to liveindependently. However, this more realisticand optimistic portrayal of the syndromeshould now enable parents and professionals todeal more effectively with the implications of adiagnosis of cri du chat syndrome in theirchild.

1 Dykens EM, Hodapp RM, Leckman JF. Behaviour anddevelopment in fragile-X syndrome. London: Sage Publica-tions, 1994.

2 Wood A, Massarano A, Super M, Harrington R. Behav-ioural aspects and psychiatric findings in Noonan'ssyndrome. Arch Dis Child 1995;72:153-5.

3 Udwin 0. A survey of adults with Williams syndrome andidiopathic infantile hypercalcaemia. Dev Med Child Neurol1990;32:129-41.

4 Rovet JF. The psychoeducational characteristics of childrenwith Turner's syndrome. Journal of Learning Disabilities1993;26:333-41.

5 Niebuhr E. Cytologic observations in 35 individuals with5p-karyotype. Hum Genet 1978;42:143-56.

6 Lejuene J, Lafourcade J, Berger R, et al. Trois cas de deletionpartielle du 13ras court d'un chromosome 5. CR Acad Sci(Paris) 1963;257:3098-102.

7 Wilkins LE, Brown JA, Nance W, Wolf B. Clinical heteroge-neity in 80 home-reared children with the cri-du-chat syn-drome. J Pediatr 1983;102:528-33.

8 Silber DL, Engle E, Merrill RE, So called 'cri du chat syn-drome'. American Journal of Mental Deficiency 1966;71:486-91.

9 Carlin ME. The improved prognosis in cri du chat (5p-)syndrome. In: Fraser WI, ed. Key issues in mental retardationresearch. London: Routledge, 1990.

10 Cornish K. The neuropsychological profile of cri du chatsyndrome without significant learning disability: a casestudy. Dev Med Child Neurol 1996 (in press).

11 Dunn L, Whetton C, Pintilie D. British picture vocabularyscale. Windsor: NFER, 1982.

12 O'Brien G. Behavioural phenotypes and their measurement.Den Med Child Neurol 1992-34:365-7.

13 Wilkins LE, Brown JA, Wolf B. Psychomotor developmentin 65 home-reared children with cri du chat syndrome. JPediatr 1980;97:401-5.

14 Anderson LT, Ernst M. Self-injury in Lesch-Nyhansyndrome. JfAutism Den Disord 1994;24:67-81.

15 Kenworthy L, Park T, Charnas LR. Cognitive andbehavioural profile of the oculocerebrorenal syndrome ofLowe. AmJffMed Genet 1993;46:297-303.

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doi: 10.1136/adc.75.5.448 1996 75: 448-450Arch Dis Child

 K M Cornish and J Pigram characteristics of cri du chat syndrome.Developmental and behavioural

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