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Arch Dis Child: first published as 10.1136/adc.34.175.228 on 1 June 1959. Downloaded from

CONGENITAL ANOMALIES ASSOCIATED WITH CEREBRAL PALSY AND MENTAL RETARDATION BY RONALD S. ILLINGWORTH From the Department of Child Health, the University of Sheffield and the Children's Hospital, Sheffield (RECEIVED FOR PUBLICATION DECEMBER l 5, 1958) In the past 12 years 800 children with mental should be significantly different from any larger retardation or with cerebral palsy have been seen series elsewhere. in the Children's Hospital, Sheffield, by the Depart- For the purposes of the study, cases of pre-natal ment of Child Health. While looking through or natal origin have been separated from those of punch-card summaries of these cases, it became post-natal origin. Tables 1 and 2 show the aetio- obvious that there was a much higher incidence of logical factors in the two groups of children, as far associated congenital anomalies in children with as they could be ascertained. There were some mental retardation without cerebral palsy than in children in whom the correct category was uncertain. those with cerebral palsy whether retarded or not. The defect in the so-called acute infantile hemiplegia, In view of the fact that in many ways there is a close similarity between the aetiological factors of the two TABLE 1 conditions, it was felt that an analysis of the AETIOLOGICAL TYPES OF CEREBRAL PALSY* associated anomalies and their incidence in the two Pre-natal or Natal (278) copyright. groups would be of interest. This paper analyses, Simple or non-specific (including spastic forms, athetosis, ataxia, tremor, rigidity and mixed forms). 266 therefore, the incidence and nature of associated Sturge-Weber syndrome 4 congenital anomalies in the two of Cerebral angioma 4 groups children. Schilder's disease 4 Pelizaeus-Merzbacher syndrome Friedreich's ataxia 1 Von Willebrand's syndrome with cerebral haemorrhage and Method of Study hemiplegia Post-natal Origin (22) The study is based on 300 children with cerebral Sequelae of pyogenic 4

Encephalitis or post-infectious encephalomyelitis 1 1 http://adc.bmj.com/ palsy (excluding ), and 500 children Trauma. 2 with mental retardation without cerebral palsy. They Cerebral vein thrombosis 3 Malignant are all consecutive cases, and constitute all the Fallot's tetralogy with cerebral vein thrombosis l children seen with these conditions by the Depart- ment of Child Health in the past 12 years. They * Excluding hydrocephalus. include all cases in which the diagnosis of mental TABLE 2 retardation or of cerebral palsy was made and AETIOLOGICAL TYPES OF MENTAL RETARDATION* indexed, and therefore are not in any way selected. on September 24, 2021 by guest. Protected They include all degrees of severity, from the most Pre-natal or Natal (465) Mongolism without congenital cardiac lesion (some with trivial symptomless cerebral palsy and the most other defects) ...... 63 Mongolism with congenital cardiac lesion (some with other trivial degree of mental retardation, even including defects) 16 those children who are commonly considered to be Simple or non-specific. 362 Phenylketonuria 5 in the normal range of intelligence (e.g. with an I.Q. Gargoylism 2 3 of 90 or 95), to the most severely incapacitated idiots Akinetic seizures with hypsarrhythmia developing in a with a level of intelligence so low that it was unscor- previously clinically normal child. 14 Post-natal Conditions (22) able. Many of those with a trivial degree of mental Sequelae of encephalitis 10 Post-infectious or post-immunization encephalomyelitis 8 retardation formed part of another study on the Pyogenic meningitis .. 2 predictive value of developmental tests in infancy Trauma. Cerebral vein thrombosis l (Illingworth, 1959). They may not necessarily be Uncertain Category (13) Degenerative conditions of the (including two of Von representative of mentally retarded children and Bogaert's syndrome). 13 those with cerebral palsy as a whole, but it is difficult to think of any reason why the series to be discussed * Excluding cerebral palsy. 228 Arch Dis Child: first published as 10.1136/adc.34.175.228 on 1 June 1959. Downloaded from CONGENITAL ANOMALIES 229 for instance, and in children who developed nor- and retrolental fibroplasia, have not been included. mally for five or six months and then suddenly The list includes 19 children, one with a cleft palate, deteriorated with a simultaneous development of five with serious eye conditions, and one with con- akinetic seizures ('hypsarrhythmia') was thought genital heart disease. Details of these children likely to be of pre-natal origin. As it happens, none cannot be given here, because space will not permit. of these children in either group had any associated In contrast to Table 3, Table 4 shows the in- anomalies. cidence of associated anomalies in the 386 children For the purposes of this study, I have included only those children in whom the defect was thought TABLE 3 to be of pre-natal or natal origin. Mongolism being CEREBRAL PALSY: ASSOCIATED CONDITIONS OR SYNDROMES IN PRE-NATAL OR NATAL FORMS (19) a separate entity, and the associated anomalies found in mongolism being well known, the 79 Pierre Robin syndrome with , abnormal , examples of this condition are not analysed separ- congenital pyloric stenosis and spastic quadriplegia.. Cataract, hepatosplenomegaly, spastic quadriplegia and con- ately, except only for the incidence of congenital vulsions. Congenital heart disease with transposition of the viscera, heart lesions (16 in 79 children). This is, therefore, athetosis and convulsions a study of 278 children with cerebral palsy and 386 Optic atrophy with , mental deficiency and athetosis Optic atrophy (including two with convulsions) 6 children with mental retardation. Retinal changes with convulsions, hemiplegia and mental 1 deficiency 21 Aplastic or hypoplastic anaemia. 3 Results Lipoidosis with a mixed form of cerebral palsy and con- vulsions The incidence of associated congenital anomalies Steatorrhoea with athetosis and mental deficiency Precocious puberty with convulsions, mental deficiency and in the 278 children with cerebral palsy is shown in hemiplegia Precocious puberty, spastic quadriplegia, retrolental fibroplasia Table 3. Defects of hearing and defects of vision, and convulsions. other than cataract, optic atrophy, choroidoretinitis

TABLE 4 MENTAL RETARDATION WITHOUT CEREBRAL PALSY, ASSOCIATED CONDITIONS OR SYNDROMES IN PRE-NATAL OR NATAL FORMS, EXCLUDING MONGOLISM copyright.

Cardiovascular Anomalies (4) Congenital Obliteration ofBile Ducts .1. I Congenital heart disease alone 4 Steatorrhoea (including one with convulsions). 3 Cranial Anomalies (13) Amino-aciduria with Convulsions (includes one with ) 4 Ichthyosis.1 Craniostenosis .. .. 2 Miscellaneous Syndromes (27) Abnormalshape (excludingmicrocephaly, simple asymmetry, Micrognathia, talipes, divarication of the recti, incurving little and flat occiput) 5 Frontal hyperostosis 1 Micrognathia, optic atrophy, congenital heart disease, talipes, Abnormal shape, with abnormally small interpupillary , torticollis, congenital abnormality of cervical distance spine, branchial fistula, , cranial abnor-

Facial Anomaly (1) mality, convulsions http://adc.bmj.com/ Beaked nose and peculiar facies Micrognathia, permanent facial palsy, severe Ocular Anomalies (16) Cleft palate, syndactyly, incurved little finger, epicanthus Optic atrophy (includes two with convulsions) 9 Linear naevi, choroidoretinitis, , optic atrophy, Retrolental fibroplasia craniostenosis, prolonged middle finger Choroidoretinitis with convulsions. Linear and diffuse pigmented naevi, of foot, Bilateral cataract splenomegaly, optic atrophy, frontal hyperostosis, congenital Congenital nystagmus dermal sinus, hypertrophied middle finger of each Buphthalmos Optic atrophy with congenital dislocation of and convulsions Cerebromacular degeneration with convulsions Optic atrophy with and convulsions Coloboma with convulsions. Optic atrophy with deafness and convulsions Skeletal Anomalies (7) Optic atrophy, enophthalmus, congenital heart disease, hypotonia Chondrodystrophy and convulsions Congenital stippled epiphyses Optic atrophy, congenital heart disease, extensive naevoid forma- on September 24, 2021 by guest. Protected Gross dwarfism. tion, congenital defect of kidney Congenital fusion of radius and ulna Cataract, congenital heart disease and hypospadias Congenital absence of radius Congenital of the right internal rectus muscle of the eye, Congenital dislocation of hip with talipes Syndactyly Severe strabismus with high arched palate and convulsions Musculoskeletal and Neuromuscularu.. (9) Choroidal degeneration with deafness Congenital hypotonia (includes one with convulsions) Spasmus nutans Congenital facial diplegia (Mobius syndrome) Rubella syndrome (cataract and congenital heart disease) with Congenital bulbar palsy ichthyosis Myasthenia gravis , hypertelorism, congenital intestinal obstruction Myopathy Arachnodactyly and deafness Cleft Palate (7) Lobster hand Alone (includes two with convulsions) 6 Hypotonia, deafness and deformity of the ears With micrognathia (Pierre Robin syndrome) 1 Hypotonia, steatorrhoea, strabismus, hepatic dysfunction, peculiar Deafness (severe). facies Anaemia (3) Congenital heart disease with megalencephaly Hypoplastic Congenital insensitivity to pain with anhydrosis and convulsions Cyclic neutropenia Klippel-Feil syndrome with meningocoele and kyphoscoliosis Congenital Laryngeal Stridor 2 Mandibulo-facial , optic atrophy, hairy mole of forehead, Toxoplasmosis 2 low hair line, accessory nipples, convulsions Complete Aphasia (age 10) Congenital dislocation of hip and abnormal skull Arch Dis Child: first published as 10.1136/adc.34.175.228 on 1 June 1959. Downloaded from 230 ARCHIVES OF DISEASE IN CHILDHOOD with mental retardation, giving details of those have an I.Q. ofover 100 (the figure given by Dunsdon anomalies in 103 children. Minor defects, such as (1952) being 8%) while 50% have an I.Q.of less than abnormalities of the ears, or minor degrees of 70 (Illingworth, 1958). Nevertheless, 16 of the 19 strabismus, have been excluded. Deafness is only examples of associated anomalies occurred in mentioned when it is severe. Cranial and facial children with cerebral palsy who had a low level of anomalies have only been mentioned when they are intelligence. very obvious. The list includes nine with congenital The high incidence of cleft palate and congenital heart disease, 30 with serious eye lesions, and eight heart disease in the mentally retarded group is of with cleft palate. The list concludes with 27 mixed interest. It was shown elsewhere that the mean I.Q. syndromes of considerable interest which will not of children with cleft palate is slightly lower than be further described here. that of the normal population (Illingworth and It will be seen that the incidence of associated Birch, 1956). Ireland, Witham and Harper (1955) congenital anomalies in children with cerebral palsy found that the incidence of congenital heart disease is 19 out of 278 children (6 8%), and that in children in 723 mental defectives in institutions was 2-35%, with mental retardation is 103 out of 386 children while the incidence in the series of retarded children (26 4%). described above (excluding mongols) was 9 in 372 Discussion (2 41%). Ireland et al. remarked that this incidence Studies of the ante-natal history of mothers who is seven times higher than that in the general have given birth to children with mental deficiency population, and that even when mongols were or cerebral palsy have shown that there are many excluded, the incidence was still several times higher features in common in the antecedents of these than that in the general population. conditions. In both groups of conditions there is a greater incidence of antepartum haemorrhage, Summary toxaemia, and other conditions leading to anoxia The incidence of associated congenital anomalies in the foetus, than is found in leading in an unselected group of 278 children with cerebral to the delivery of a normal foetus (Lilienfeld and palsy of pre-natal or natal origin is compared with Parkhurst, 1951; Pasamanick and Lilienfeld, 1955; that in 386 children with mental retardation of copyright. Lilienfeld and Pasamanick, 1955). Hence the pre-natal or natal origin, excluding mongols. observation that the incidence of associated The incidence of associated anomalies was 6- 8% anomalies is 6-8% in a group of 278 unselected in the children with cerebral palsy and 26- 4% in the children with cerebral palsy, as compared with one children with mental retardation alone. of 26-4% in 386 children with mental retardation, The high incidence of cleft palate and congenital indicates, as one would expect, that there are other heart disease in the mentally retarded group is noted. contributory factors, possibly largely genetic, which The implications of these findings are discussed. http://adc.bmj.com/ operate differently in the two groups. It may be argued that the two groups are not REFERENCES Dunsdon, M. I. (1952). The Educability of Cerebral Palsied strictly comparable in that while all the children in Children. Newnes Educational Publishing Co., London. Illingworth, R. S. (1958). Recent Advances in Cerebral Palsy. one group are mentally retarded, some of the Churchill, London. children in the cerebral palsy group are not. It has (1959). Arch. Dis. Childh. In the press. and Birch, L. B. (1956). Arch. Dis. Childh., 31, 300. already been explained, however, that children with Ireland, C. R., Witham, A. C. and Harper, H. T. (1955). New Engl. J. Med., 252, 117. only trivial degrees of mental retardation have been Lilienfeld, A. M. and Parkhurst, E. (1951). Amer. J. Hyg., 53, 262. included in the former group, while it is known that -and Pasamanick, B. (1955). Amer. J. Obst. Gynec., 70, 93. on September 24, 2021 by guest. Protected Pasamanick, B. and Lilienfeld, A. M. (1955). J. Amer. med. Ass., only a small number of children with cerebral palsy 159, 155.