Arch Dis Child: first published as 10.1136/adc.50.2.115 on 1 February 1975. Downloaded from

Archives of in Childhood, 1975, 50, 115.

Childhood organic neurological disease presenting as psychiatric disorder T. M. RIVINUS,* D. L. JAMISON,t and P. J. GRAHAM From the Departments of and Psychological Medicine, The Hospital for Sick Children, London

Rivinus, T. M., Jamison, D. L., and Graham, P. J. (1975). Archives of Disease in Childhood, 50, 115. Childhood organic neurological disease presenting as psychiatric disorder. Over a period of one year 12 children with complaints which had been diagnosed as due to a psychiatric disorder presented to a paediatric neurological unit where neurological disease was diagnosed. The group was characterized by behavioural symptoms such as deteriorating school performance, visual loss, and postural disturbance, which are unusual in children attending child psychiatric departments. It is suggested that where there is diagnostic uncertainty the presence of these physical symptoms calls for periodic neurological reassessment, and attention is drawn to the rare but serious disorders which may thus be diagnosed. Making an organic diagnosis, however, should not preclude psychosocial management of emotional reactions in these families.

There are many situations in which, though a where it is present. This paper provides data on a child complains of bodily symptoms, it would be number of children with neurological disorders copyright. inappropriate after adequate investigation to regard whose complaints had previously been thought to be the problem as anything other than a disorder of purely of a psychiatric nature. emotional life. Environmental leads certain The aims in reporting this study are first to individuals to become unusually aware of normal prevent or at least reduce the likelihood of similar body sensations. The physiological concomitants diagnostic errors in the future, and secondly to draw of anxiety may be experienced as uncomfortable attention to a number of rare neurological conditions

bodily sensations. Loss of sensory or motor which general practitioners, school health doctors, http://adc.bmj.com/ function, especially in the limbs, may occur as a child psychiatrists, and paediatricians might over- morbid response to an otherwise intolerable internal look. conflict or external stress. A child's complaint of physical discomfort, especially , may represent a Method communication where other methods of calling for In the 12 months between July 1972 and June 1973, 12 attention have failed. In all these situations a children were admitted to the neurological wards of The psychiatric approach aimed at understanding the life Hospital for Sick Children who had previously been situation of the child and family will be more diagnosed as from psychiatric disorder, but who on September 27, 2021 by guest. Protected rewarding than any attempt to deal with the problem on investigation were found to have neurological disorder. All of these were seen personally by either as a physical one with organic aetiology and needing T.M.R. or D.L.J. In none of these children was there physical treatment. any reasonable doubt that the original symptoms of Yet the knowledge that physical symptoms occur, cognitive or behaviour and emotional disorder indeed occur frequently, as a response to stress were due to the neurological disorder ultimately without any sinister somatic implications may diagnosed. clearly lead us mistakenly to miss physical illness Information on these children was obtained from hospital notes and from reports obtained from child Received 4 July 1974. psychiatrists and paediatricians who had seen them was tabulated in terms of Present addresses: *The Children's Hospital Medical Center, 300 previously. The information Longwood Avenue, Boston, Massachusetts, presenting symptoms, age at which these appeared, U.S.A. psychiatric diagnosis, the professional group of doctors t105 Barrack Road, Auckland 6, New Zealand. making the psychiatric d;agnosis, final neurological 115 Arch Dis Child: first published as 10.1136/adc.50.2.115 on 1 February 1975. Downloaded from

116 Rivinus, Jamison, and Graham diagnosis, and period of time between initial psychiatric were deteriorating school performance in 6 of the 12 and final neurological diagnoses. children, and disturbances of posture in 5. The remaining child had difficulty in seeing the blackboard at Patients. Among the 12 children there were 7 girls school. In a number of the children these symptoms and 5 boys. There are approximately 550 admissions (which are unusual among children seen in psychiatric per year to these wards, so that this group represented departments) were not prominent and in many were about 2% of the total. The age range of the 12 children overshadowed at the time of initial presentation by at the time of presenting symptoms was between 4 years commoner psychiatric symptoms such as aggressive 5 months and 10 years, with a mean age of 6 years 9 behaviour, temper tantrums, and symptoms of anxiety. months. A diagnosis of childhood or Psychological testing had been carried out in only a few childhood had previously been made in 2 of the children and no characteristic pattem of test children, conduct or behaviour disorder in 2 children, results had been noted. The psychiatric symptoms are emotional reaction or anxiety state in 4 children, and given in Table I in relation to final neurological hysterical reaction in 2 children. A psychiatrist, usually diagnosis. a child psychiatrist, had been involved in making the Psychiatric treatment was initiated in most cases, and psychiatric diagnosis in 10 cases, and an orthopaedic included the use of psychotropic , hypno- surgeon in 2 cases. Nearly all the children had seen suggestion, and analytically orientated psychotherapy. other consultants, usually paediatricians who had either Many of the children were living in stressful circum- concurred in the psychiatric diagnosis or been stances and various measures including parental responsible for making it in the first place. guidance, casework with parents, and environmental The behavioural symptoms which the children showed alterations were undertaken in an attempt to improve the and which led to a psychiatric diagnosis being made were symptoms. various, but the two main types of symptoms present Reconsideration of the psychiatric diagnosis occurred

BLE I Psychiatric features of the 12 patients studied

Age at Case psychiatric Sex Age at organic Psychiatric symptoms Psychiatric diagnosis Final neurological diagnosis no. diagnosis diagnosis copyright. (yr) (m) (yr) (m) 1 6 1 F 12 Walking with hunched Anxiety state Grade II astrocytoma of spinal shoulders and posturing cord of neck 2 7 M 9 7 Destructive; uninhibited Child psychosis Sex-linked diffuse cortical behaviour; flight of sclerosis with Addison's ideas; deteriorating disease school performance; inappropriate affect

3 10 F 14 Provocative behaviour with Behaviour disorder Congenital syphilis (tertiary http://adc.bmj.com/ considerable variability; phase) progressive loss of cognitive skills 4 5 7 M 6 5 Irritable; easily frustrated; Child psychosis Subacute sclerosing tantrums; deteriorating panencephalitis school performance 5 8 6 F 9 Destructive; aggressive; Metachromatic leucodystrophy deteriorating school performance 6 8 5 M 9 Anorexia; weight loss; pain Hysterical reaction Cystic astrocytoma of spinal

in the back cord on September 27, 2021 by guest. Protected 7 7 M 8 4 Aggressive and excitable Behaviour disorder Batten's disease behaviour; difficulty in seeing blackboard 8 7 9 F 8 8 Dragging left leg; hunching Anxiety state Osteoid-osteoma of L5 shoulders 9 10 7 F 14 10 Aggressive, destructive Behaviour disorder Degenerative CNS disease behaviour; loss of (idiopathic) cognitive skills 10 6 10 F 7 Pain in elbow, knees, Emotional disorder Polymyositis hands; difficulty climbing stairs 11 7 3 M 10 1 Unsteady gait; Anxiety state Friedreich's ataxia inco-ordination; tremor of hand 12 9 1 F 9 4 Limp left leg; fidgetiness Hysterical reaction Dystonia musculorum deformans Arch Dis Child: first published as 10.1136/adc.50.2.115 on 1 February 1975. Downloaded from

Childhood organic neurological disease presenting as psychiatric disorder 117 for a number of reasons. The onset of epileptic handicap in childhood is also more frequently was important in 3 children, and increased loss of power encountered in the general population (Rutter, in the limbs and loss of visual function prompted Tizard, and Whitmore, 1970b). Nevertheless, reconsideration in 4 cases. In some of the remaining children, though the symptoms had not changed, there can be no doubt that inappropriate psychiatric parental pressure for a further opinion, or diagnostic labelling can result in unnecessary distress, and the doubts in the psychiatric team were mainly responsible question arises how much of the diagnostic for re-evaluation of the situation. A paediatrician reflected in the cases described above requested re-evaluation in 6 children, a general could have been avoided. practitioner in 2, a psychiatrist in 2, an orthopaedic Perhaps the most important point to make is that surgeon in one. In Case 12 a paediatric neurologist who the symptoms with which these children presented had originally concurred in the psychiatric diagnosis kept were unusual in child psychiatric practice. the case under review and eventually altered his diagnosis in the light of findings on examination. Although failure to make progress in school is The age range of the children at the time of final common enough, actual deterioration in academic neurological diagnosis was between 6 years 5 months and performance-reading, writing, and number work- 14 years 10 months. The period of time elapsing is infrequently encountered. Deterioration of these between the original psychiatric diagnosis and final skills can occur for purely psychiatric reasons, but neurological diagnosis ranged from 2 to 71 months with a such an explanation should not be readily accepted. mean of 21 months, so that the diagnostic delay involved Regression in other areas of behaviour, encopresis, cannot be regarded as trivial. enuresis, and general reversion to an immature The neurological diagnoses are listed in Table II pattern of social and emotional behaviour with indi ating the circumstances leading to neurological referral, the examination and investigation findings, and clinging and reduced frustration tolerance are, by subsequent management and outcome. contrast, common in child psychiatric practice, and Although 5 or possibly 6 of the 12 conditions are after appropriate physical examination can more genetically determined, only in the family with readily be accepted purely as stress reactions. The Addison-Schilder's disease was there a positive family fact that apart from these unusual symptoms the history, there having been unrecognized affected cases children with disorders in this group showed a among the mother's male sibs. A history of repeated of conduct and emotional is in line variety symptoms copyright. miscarriages affecting the mother of the girl with with the findings of others that there is no congenital syphilis was in retrospect relevant to the diagnosis. characteristic behavioural syndrome diagnostic of It will be seen that the final neurological diagnoses, (Rutter, Graham, and Yule, 1970a). though not in general uncommon in specialist paediatric Symptom variability is often taken to be suggestive neurological practice, would not be encountered except of psychiatric illness at the diagnostic stage. occasionally by general practitioners, child psychiatrists, Variability was in fact very common in these cases or even consultant paediatricians. Most of the and therefore should not be taken as a sign that

conditions diagnosed were not treatable except in a neurological disorder is absent. http://adc.bmj.com/ palliative sense, and 8 ofthe 12 children were found to be Loss of function of the limbs or reduction in suffering from which will, in all probability, visual acuity are not frequently seen by child result in death before they reach adult life. In the hereditary conditions genetic counselling was obviously psychiatrists, and though they may represent highly relevant. manifestations of hysterical reactions, caution is again necessary in making this diagnosis. Caplan (1970) followed up 28 children diagnosed in a child Discussion psychiatric department as suffering from 'conversion Published reports of diagnostic error appear hysteria', 13 (46%) of whom were later found to on September 27, 2021 by guest. Protected infrequently for obvious reasons. Yet the study of have proven organic illnesses to explain their mistaken diagnosis is important, for it should enable symptoms. Similarly, Harcourt and Hopkins us to avoid pitfalls into which others have fallen. (1972) recently described a number of children The children reported here were originally in whom tapetoretinal degeneration, possibly diagnosed as having a psychiatric disorder but later representing Batten's disease (Wilson, 1972a), were found to have neurological disease. Most presented as a disturbance of behaviour reactive to doctors would probably regard missing a physical frustration occurring with diminished visual acuity. problem in this way as somehow more blameworthy Our own observations add weight to the clinical than misdiagnosing, and therefore mistreating, a impression that hysterical reaction is rare in psychiatric disorder. Such an attitude has little prepubertal children. justification, for psychiatric disability is just as 'real' Although abnormal neurological or other physical as physical disability, and indeed as a cause of signs may not have been present at the time of Arch Dis Child: first published as 10.1136/adc.50.2.115 on 1 February 1975. Downloaded from 118 Rivinus, Jamison, and Graham TABLE II Neurological features

Case Reason for reconsideration Signs at tim.e of neurological Relevant investigations Neurological diagnosis no. of case diagnosis and outcome ~~-- I- I 1 Progression of postural Kyphoscoliosis; upper motor Spine x-rays: widened canal Grade II astrocytoma of cord; symptoms neurone signs in legs; lower from C2-T8; air laminectomy; motor neurone and sensory myelogram: expanded cord; decompression of cord; signs in left arm biopsy radiotherapy; improvement of symptoms; discharged 2 Onset of uncontrollable focal Focal seizures; speech loss; Serum sodium: low; Sex-linked diffuse cortical seizures, loss of speech; papilloedema; bilateral Synacthen test: impaired (2 sclerosis with Addison's incoherence of thinking upper motor neurone signs; younger 'normal' brothers disease; rapid deterioration; dry skin had impaired response to died 2 m later. Synacthen at this time) 3 Progressive deterioration of Disorientated; hyperactive; Positive serum, CSF, Congenital syphilis (tertiary school performance; lethargic; dilated left fixed Wassermann, VDRL; phase); penicillin ; bizarre behaviour; admitted pupil; left homonymous paretic Lange CSF; neurological signs and with drowsiness, , hemianopia; bilateral upper Treponema pallidum behaviour improved; ataxia, and focal fits motor neurone signs; identified from diagnostic continuing iritis with pathologically brisk tap of anterior chamber of cataracts and corneal reflexes; extensor plantar eye scarring responses; bilateral corneal opacities; iritis, uveitis 4 Progressive loss of skills, Inattentive; ataxic; mild left EEG: large periodic stereo- Subacute sclerosing school performance; loss of hemiparesis with left typed complexes at 8-12 s panencephalitis; progressive use of left hand, ataxia, and homonymous hemianopia intervals; paretic Lange deterioration dysarthria; ?papilloedema CSF; raised serum; measles antibody titres 5 Progressive loss of skills; Labile personality; facial Urine for intracellular Metachromatic aggressive, destructive grimacing; dysarthria; metachromatic granules leucodystrophy; progressive behaviour; left-sided ataxic gait; increased tone ( + ); leucocyte deterioration; no response ataxia; weakness; double and tendon reflexes arylsulphatase A activity: to vitamin A-deficient diet incontinence low 6 Parental pressure for second Weight loss, back stiffness; Spine x-rays: eroded pedicles; Cystic astrocytoma of spinal

opinion torticollis; no neurological myelogram: space- cord; radiotherapy; copyright. deficit occupying lesion of spinal torticollis improved, cord; exploratory regained weight laminectomy 7 Deteriorating vision Drop attacks; reduced visual Electroretinogram: reduced Batten's disease; registered as acuity; attenuated retinal responses; rectal biopsy: blind; now in mental arteries; abnormal retinal neuronal storage subnormality hospital pigmentation; optic atrophy 8 Persisting disability Kyphoscoliosis; limp; Further spine films: sclerotic Osteoid-osteoma; surgical limitation raising left leg; lesion L5 lamina resection of lesion; depressed left knee jerk improvement resulted 9 Onset focal fits aged 13 yr Focal fitting; ; Electroretinogram: abnormal Degenerative CNS disease, http://adc.bmj.com/ 3 m; slow progress at dysmetria; pathologically type unknown; school; persisting unusual brisk reflexes; bizarre anticonvulsants; day behaviour behaviour admission to training centre 10 Referral to exclude organic Generalized lympho- Serum creatine Acute polymyositis; steroid condition before psychiatric adenopathy; waddling gait; phosphokinase: raised; therapy; slow improvement referral papular rash; reduced electromyogram: myopathic power of proximal muscles; changes; muscle biopsy; depressed tendon reflexes myopathic 11 Finding of heart murmur by Cerebellar ataxia; positive Electrocardiogram: right Friedreich's ataxia; change to GP Romberg; depressed knee ventricular hypertrophy; school for physically and ankle reflexes; extensor electromyogram: handicapped; deterioration plantars; kyphoscoliosis; dennervation; on September 27, 2021 by guest. Protected cardiac murmur conduction: slowed 12 Kept under review by Dystonic posturing left arm None Dystonia musculorum paediatric neurologist and leg; wasted left leg deformans; stereotaxic muscles with short-lived success

psychiatric diagnosis, the need for periodic reassess- urine examination for intracellular metachromatic ment is raised by this group of cases. By the time material (Case 5), syphilis serology (Case 3), of neurological diagnosis only one child had no neurophysiological studies (Cases 4, 7, 9), serum abnormal neurological signs apart from torticollis creatine phosphokinase (Case 10), a blood film for and abnormal back stiffness. Investigations of vacuolated lymphocytes (Case 7), and repeated relative simplicity, e.g. blood electrolytes (Case 2), spinal x-rays (Cases 1, 6, 8), were omitted which Arch Dis Child: first published as 10.1136/adc.50.2.115 on 1 February 1975. Downloaded from

Childhood organic neurological disease presenting as psychiatric disorder 119 were of diagnostic importance. The relative rarity reactions to the new situation. This is not an of the conditions listed together with the welter of inevitable consequence. A brother of one of these complex and expensive laboratory investigations children refused to go to school partly as an available (reviewed by Wilson, 1972b) emphasizes emotional reaction to his sib's fatal illness, and it was the necessity for referring children who present with possible to treat this problem psychiatrically despite unusual psychiatric symptoms to centres where a the previous misdiagnosis. full paediatric neurological assessment can be Finally, it should be mentioned that these cases undertaken. illustrate the need for close working co-operation Periodic re-evaluation is often not a straight- between general practitioners, school medical forward procedure, as in many of the children we officers, paediatricians, and child psychiatrists. have described the psychiatric diagnosis was a Misdiagnosis, with its attendant consequences of tentative one made only after the child had been increased family distress, is less likely where doctors seen by a number of consultants in different in different disciplines are not working in isolation, specialities who had failed to make a physical but are able to share their expertise and learn respect diagnosis. Eventually, a child psychiatrist's for each other's skills. opinion would be sought and often he would be in doubt. He might then suggest treating the child We are grateful to Drs. E. Brett and J. Wilson for psychiatrically without any great conviction of the allowing us to publish details of patients who have been presence of a psychiatric disorder. Such diagnostic under their care. uncertainty must obviously be very stressful for the child and family involved, and, where psychiatric REFERENCES treatment is in progress, a periodic physical Caplan, H. L. (1970). Hysterical 'conversion' symptoms in childhood. Unpublished M.Phil. Thesis. University of examination must inevitably affect the motivation of London. the family to co-operate in such treatment. Never- Harcourt, B., and Hopkins, D. (1972). Tapetoretinal degeneration in childhood presenting as a disturbance of behaviour. British theless, in these unusual situations where diagnostic MedicalJournal, 1, 202. doubt exists, it seems important to bear in and Rutter, M., Graham, P., and Yul-, W. (1970a). Neuropsychiatric Study in Childhood; A Study of a Small Community. periodically test for the possibility of an organic Heinemann, London. copyright. disorder. Rutter, M., Tizard, J., and Whitmore, K. (1970b). Education, Helping parents and children to cope with Health and Behaviour. Longmans, London. Wilson, J. (1972a). Tapetoretinal degeneration. British Medical diagnostic uncertainty is one of the main Journal, 1, 443. responsibilities of medical and social work staff Wilson, J. (1972b). Invettigation of of the central . Archives of Disease in Childhood, 47, involved in managing cases such as those described. 163. One danger is that at the time the neurological diagnosis is made, the parents, having seen an Correspondence to Professor P. J. Graham, Depart- organic problem treated as an emotional one, deny ment of Psychological Medicine, The Hospital for Sick http://adc.bmj.com/ all their own and their other children's emotional Children, Great Ormond Street, London WC1N 3JH. on September 27, 2021 by guest. Protected