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%).