448 Archives ofDisease in Childhood 1996;75:448-450 Developmental and behavioural characteristics of cri du chat syndrome Arch Dis Child: first published as 10.1136/adc.75.5.448 on 1 November 1996. Downloaded from

K M Cornish, J Pigram

Abstract The present study describes the develop- Developmental and behavioural charac- mental and behavioural profile of 27 children teristics were assessed in 27 children with with cri du chat syndrome. The study forms cri du chat syndrome using the Society for part of a larger study examining cognitive and the Study of Behavioural Phenotypes adaptive functioning in such children. As far as questionnaire, which gave information on the authors are aware this is the first published prenatal and perinatal conditions, study of the behavioural phenotype of cri du neurological problems, and developmen- chat syndrome. tal and behavioural difficulties. The find- ings suggest that the behavioural profile of Patients and methods children with cri du chat syndrome incor- PATIENTS porates selfinjurious behaviour, repetitive The participants were 27 children with cri du movements, hypersensitivity to sound, chat syndrome (mean chronological age: 8.3 clumsiness, and obsessive attachments to years; age range 4.0-16.0 years; mean mental objects. In terms of a developmental age: 4.8 years (age range 2.2-12.4 years); there profile, children with cri du chat syn- were 13 boys and 14 girls). Mental age was drome were able to communicate their measured using the British picture vocabulary needs, socially interact with others, and scale." have some degree ofmobility. Diagnosis had been established by chromo- (Arch Dis Child 1996;75:448-450) somal analyses and physical phenotype. Par- ticipants were recruited via the UK cri du chat Keywords: cri du chat syndrome, learning disability, chromosome disorder, behavioural characteristics. syndrome association. All 27 of the families who were contacted participated in the study. Identifying the behavioural phenotype of indi- All the children in the sample were living in viduals with genetically determined disorders the community, none was living in institutional has become a strong focus of research in recent care; 16.7% attended a mainstream school years. Behavioural profiles have now been with special needs provision; 37.5% attended a

established for a number of syndromes includ- school for mild-moderate learning disabilities; http://adc.bmj.com/ ing fragile X syndrome,' Noonan's syndrome,2 and 45.8% attended a school for severe learn- Williams syndrome,' and Turner's syndrome.4 ing disabilities. These profiles can provide a useful indicator of the behavioural characteristics and problems QUESTIONNAIRE associated with a given genetic disorder. The The Society for the Study of Behavioural Phe- present study describes the behavioural pheno- notypes questionnaire has been developed for type of 27 children with cri du chat syndrome, the purpose of obtaining cross syndrome data on September 27, 2021 by guest. Protected copyright. a rare chromosome disorder that affects and comprises four sections12: approximately one in 50 000 live births. The (1) Prenatal and perinatal conditions syndrome is caused by a loss of chromosomal (2) Neurological problems, specifically epi- material from the critical region 5p (5p 12) and lepsy represents one of the most common deletion (3) Developmental assessment, including vi- syndromes in humans.5 The main clinical sion, hearing, mobility, dexterity, feeding, characteristics include a distinctive, high continence, dressing, hygiene, and com- pitched 'cat-like' cry6; a round or 'moon facies' munication with low set ears and asymmetrical facial con- (4) Behavioural domains, including feeding tour5; and respiratory and cardiac abnormali- and drinking, sleep, social behaviour, ties.' movement activities, difficulties with lan- While identification of the clinical character- guage, unusual movements and interests, istics of cri du chat syndrome were first aggressive behaviour, and anxiety and Room BS5b, Faculty of published over 30 years ago, few studies have mood. Medicine, Medical sought to establish a cognitive and behavioural All 27 families were questioned during a semi- School, University of profile of this syndrome. Before 1980 the typi- structured interview when their child partici- Nottingham, Queen's cal portrayal of the syndrome was one of pated in an extensive neuropsychological study Medical Centre, carried out by the authors. Nottingham NG7 2UH profound mental retardation, limited verbal K M Cornish abilities, and slow psychomotor development.8 J Pigram However, recent studies by Carlin and by Cor- Results nish have indicated that many children with cri PRENATAL AND PERINATAL CONDITIONS Correspondence to: du chat live at interact Dr Cornish. syndrome home, Of the 27 mothers, 10 (37.0%) reported the socially, and develop some language and motor presence of an abnormality during their Accepted 7 June 1996 skills.9 10 pregnancy; 12 (44.4%) reported that their Cri du chat syndrome 449

Table 1 Summary of the developmental characteristics of Table 2 Summary of the behavioural characteristics of children with cri du chat syndrome (n=27) children with cri du chat syndrome (n=27) Arch Dis Child: first published as 10.1136/adc.75.5.448 on 1 November 1996. Downloaded from Assessment No (%) Assessment No (%) Vision/hearing Feeding Wears glasses 4 (14.8) Normal intake offood 19 (70.4) Wears a hearing aid 0 Eating less than normal 3 (11.1) Mobility Eating more than normal 5 (18.5) Can sit without support 23 (85.2) Pica 11 (40.7) Walks steadily and normally 5 (18.5) Faddy eating 3 (11.1) Walks, but not as steadily as other children 10 (37.0) Sleep Walks, but activity limited 7 (26.0) Regular sleeping pattern 20 (74.1) No independent walking 5 (18.5) Social behaviour Dexterity Normal interest in others 10 (37.0) Gross hand movements 25 (92.6) Too friendly with strangers 13 (48.1) Fine hand movements 18 (65.4) Unusual eye contact 12 (44.4) Feeding Facial grimacing 9 (33.3) Feeds him/herself: Activity level Not at all 1 (3.7) Underactive 6 (22.2) Finger feeds 19 (70.4) Normally active 14 (51.8) Spoon feeds 5 (18.5) Overactive 2 (7.4) Uses knife and fork 2 (7.4) Clumsy 19 (70.3) Drinks from an ordinary cup 19 (70.4) Creates chaos aimlessly 13 (48.1) Continence and hygiene Communication Toilet trained 7 (25.9) Echolalia 14 (51.8) Washes self totally 8 (29.6) Unusual movement and interests Dressing Repetitive movements 19 (70.3) Ability to dress him/herself: Peculiar object attachment 14 (51.8) Completely 8 (29.6) Unusual reaction to light/sound/smell 22 (81.4) With little help 13 (48.1) Aggressive/self injurious behaviour A lot ofhelp 5 (18.5) Physically aggressive towards: Not at all 1 (3.7) Family members 9 (33.3) Ability to comunicate Non-family members 5 (18.5) How he/she makes needs known: Self injurious behaviour 19 (70.3) Does not indicate needs 5 (18.5) Stubborn 16 (59.2) Uses non-verbal method 13 (48.1) Deliberately destroys tiings 9 (33.3) Uses formal sign or symbol system 2 (7.4) Anxiety/mood Uses speech 7 (25.9) Excessively happy 18 (66.6) Excessively unhappy 4 (14.8) Often fearful 4 (14.8) Irritable 10 (37.0) baby had had difficulties during the delivery; Serious temper tantrums 9 (33.3) and, over half of the children in the sample 14 (51.8%) needed special care facilities directly after the birth. BEHAVIOURAL PROFILE Table 2 provides a summary of the behavioural NEUROLOGICAL PROBLEMS profile. None of parents in the sample reported that There was one characteristic that occurred their child had had fits or in more than 75% of the group and nine char- epilepsy. http://adc.bmj.com/ acteristics that occurred in more than 50% of DEVELOPMENTAL PROFILE the group: hypersensitivity to sensory stimuli Table 1 provides a summary of the develop- (81.4%), self injurious behaviour (70.3%), mental profile. repetitive movements (70.3%), clumsy Abnormal vision was present in only four (70.3%), excessively happy (66.6%), stubborn (14.8%) children and there was no reported (59.2%), object attachments (51.8%), echola- incidence of abnormal hearing. While the lia (51.8%), and normally active (51.8%). majority of all children in the sample had some on September 27, 2021 by guest. Protected copyright. degree of mobility, in that 23 (85.2%) could sit Discussion without support, the ability to walk steadily The data presented here outline a profile of and normally was severely impaired with only developmental and behavioural characteristics five (18.5%) children able to walk competently. in children with cri du chat syndrome. While gross motor skills (for example, waving) were achieved in 25 (92.6%) of the children, DEVELOPMENTAL CHARACTERISTICS only 18 (65.4%) were competent in fine motor In terms of development, the main weaknesses skills (that is, holding a pencil). Twenty six involved those skills that required mobility, (96.2%) children could feed themselves to dexterity, and verbal communication. This varying degrees and 19 (70.4%) could drink finding was not unexpected and confirms that from an ordinary cup. However, fewer than a reported in earlier studies.7 However, examin- third of children were toilet trained (seven; ation of table 1 reveals that far from being 25.9%) and only eight (29.6%) were able to totally immobile, maladroit and non- wash and dress themselves completely at the communicative, the majority of children had time of the assessment. The ability to use acquired some degree of mobility, dexterity, speech to communicate needs was evident in and communication skill. For example, gross fewer than a third (seven; 25.9%) of the hand movements, in contrast to fine hand children, although 15 (55.5%) were able to movements, were relatively unimpaired indi- communicate their needs using either non- cating an ability to use the hands for such tasks verbal methods, 13 (48.1%), or formal signs, as waving or catching a rolling ball, if not for two (7.4%). Five (18.5%) however were tasks that involve holding a pencil or putting unable to communicate their needs using any pegs into holes. In addition, lack of speech did of the above methods. not appear to impede communication with 450 Cornish, Pigram

more than two thirds of the children able to whose profile also includes repetitive move- communicate their needs using non-verbal ments and self injurious behaviour (although methods. However, relatively few children used not hyperacusis) (Z Dolinsky, paper presented Arch Dis Child: first published as 10.1136/adc.75.5.448 on 1 November 1996. Downloaded from formal sign language, which is suprising given at Behavioural Phenotype Study Group Sym- recent evidence to indicate that over 50% of posium, Welshpool, November 1990) and Wil- children with cri du chat syndrome were able liams syndrome whose profile also includes to use sign language to communicate basic hyperacusis (but not repetitive movements or needs.9 Lack of training in formal sign selfinjurious behaviour).'5 The extent to which language may have contributed to its low usage these obsessions persist into adulthood is not in the present study. Early stimulation and known but the effects in childhood are such introduction to sign language are therefore that they place significant restrictions upon crucial if more effective communication is to emotional and cognitive development. be attained. While the present study has outlined a number of behavioural problems associated BEHAVIOURAL CHARACTERISTICS with cri du chat syndrome there are still many The behavioural profile for cri du chat aspects of behaviour that are not as severely syndrome appears to be one of self injurious impaired and these need to be strengthened behaviour, repetitive movements, obsessive and encouraged by parents and professionals. attachment to objects, hypersensitivity to The major limitation appears to be in activities sensory stimuli, stubbornness, and clumsiness. and behaviours that require motor skill and it Notably few children showed autistic charac- may well be the high incidence of some of the teristics (for example, gaze avoidance, social behavioural problems in this syndrome results isolation), feeding or sleep problems, or mood from its physical constraints. disorders. What is particularly surprising, how- Our study has highlighted some ofthe devel- ever, is the relatively low incidence of hyperac- opmental and behavioural aspects of cri du tivity reported in the present study. This chat syndrome. In particular it has demon- contrasts with an earlier finding by Wilkins et al strated the potential of children with this which found that hyperactivity and restlessness syndrome to develop and maintain important were major problems in almost half of the 53 skills including ability to communicate needs, children assessed in their study."3 to socially interact with others, and to develop The extent to which these characteristics are some degree of mobility. The extent to which specific to cri du chat syndrome or shared with these skills continue to develop in adulthood is other syndrome groups is difficult to measure not yet known, although considering the sever- without first ensuring that all samples are ity of the difficulties it is unlikely that adults matched by intellectual level, sex, age, social with the syndrome will be able to live class, etc. However, in comparison to other independently. However, this more realistic learning disabled groups, the incidence of and optimistic portrayal of the syndrome repetitive movements and self injurious behav- should now enable parents and professionals to

iours in cri du chat syndrome appears to be deal more effectively with the implications of a http://adc.bmj.com/ higher than the incidence reported in, for diagnosis of cri du chat syndrome in their example, Down's syndrome (K Cornish, J child. Pigram, unpublished) or fragile X syndrome,' but is comparable with the incidence reported 1 Dykens EM, Hodapp RM, Leckman JF. Behaviour and development in fragile-X syndrome. London: Sage Publica- in disorders such as Lesch-Nyhan syndrome.'4 tions, 1994. The high rate of hyperacusis reported in 2 Wood A, Massarano A, Super M, Harrington R. Behav- children with cri du chat syndrome is also a ioural aspects and psychiatric findings in Noonan's syndrome. Arch Dis Child 1995;72:153-5. on September 27, 2021 by guest. Protected copyright. behaviour common to Williams syndrome, with a 3 Udwin 0. A survey of adults with Williams syndrome and recent Udwin an incidence of idiopathic infantile hypercalcaemia. Dev Med Child Neurol survey by revealing 1990;32:129-41. over 90%.3 As in Williams syndrome, children 4 Rovet JF. The psychoeducational characteristics of children with cri du chat become distressed at a with Turner's syndrome. Journal of Learning Disabilities syndrome 1993;26:333-41. wide range of sounds, including sudden noises 5 Niebuhr E. Cytologic observations in 35 individuals with made from aeroplanes, lawn mowers, a balloon 5p-karyotype. Hum Genet 1978;42:143-56. 6 Lejuene J, Lafourcade J, Berger R, et al. Trois cas de deletion bursting, thunder, etc. As yet, there is littde partielle du 13ras court d'un chromosome 5. C R Acad Sci evidence of specific auditory abnormalities to (Paris) 1963;257:3098-102. 7 Wilkins LE, Brown JA, Nance W, Wolf B. Clinical heteroge- explain this hypersensitivity in cri du chat or Wil- neity in 80 home-reared children with the cri-du-chat syn- liams syndromes. However, early intervention to drome. J Pediatr 1983;102:528-33. 8 Silber DL, Engle E, Merrill RE, So called 'cri du chat syn- try and alleviate the distress caused by this condi- drome'. American Journal of Mental Deficiency 1966;71: tion is essential if the individual is to adjust into 486-91. 9 Carlin ME. The improved prognosis in cri du chat (5p-) adulthood. syndrome. In: Fraser WI, ed. Key issues in mental retardation The high rate of clumsiness reported in chil- research. London: Routledge, 1990. 10 Cornish K. The neuropsychological profile of cri du chat dren with cri du chat syndrome is hardly syndrome without significant learning disability: a case surprising given the restrictions imposed upon study. Dev Med Child Neurol 1996 (in press). 11 Dunn L, Whetton C, Pintilie D. British picture vocabulary them by their lack of mobility and is prevalent scale. Windsor: NFER, 1982. in most syndromes where motor delay is a 12 O'Brien G. Behavioural phenotypes and their measurement. Den Med Child Neurol 1992-34:365-7. dominant feature (for example, Lesch-Nyhan 13 Wilkins LE, Brown JA, Wolf B. Psychomotor development syndrome). In contrast, an obsessional attach- in 65 home-reared children with cri du chat syndrome. J Pediatr 1980;97:401-5. ment to objects, which was present in over half 14 Anderson LT, Ernst M. Self-injury in Lesch-Nyhan of the children with cri du chat syndrome, is syndrome. JfAutism Den Disord 1994;24:67-81. 15 Kenworthy L, Park T, Charnas LR. Cognitive and comparatively rare in other syndrome groups. behavioural profile of the oculocerebrorenal syndrome of The exceptions to this are Lowe's syndrome Lowe. AmJffMed Genet 1993;46:297-303.