DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY.
1978,20
J I . Orth, D. N., Island, D. P. (1969) ‘Light synchronization of the circadian rhythm in plasma cortisol
(17-OHCS) concentration in man.’ Joitrnal of‘Clinical Endocrinology and Metabolism, 29,479486. 12. Krieger. D. T., Rizzo, F. (1971) ’Circadian periodicity of plasma 1I-hydroxycorticosteroid levels in 8, 165-179. subjects with partial and absent light perception.’ Nertroendocrinolog~~, 13. Magee, K., Basinska, J.. Quarrington, B., Stancer, H. C. (1970) ‘Blindness and menarche.’Life Sciences, 9, 7-12. 14. Sans, L. J. (1977) ‘Ovulation symptoms and ovarian function in blind women.’ Ferfilifyand Sterilify, 28, 277-278. 15. Bellastella, A,, Colucci. C. F., D’Alessandro, B., Lo Cicero, M. (1977) ‘L-Dopa stimulated growth hormone release in the blind.’ Journal of Clinical Endocrinology and Metabolism, 44,194-195. 16. Reinberg. A., Lagoguey, M., Chauffournier, J. M., Cesselin, F. (1975) ‘Circannual and circadian rhythms in plasma testosterone in five healthy young Parisian males.’ Acfa Endocrinologica, 80,732-743. 17. Marshall, W. A,, Swan, A. V. (1971) ‘Seasonal variation in growth rates of normal and blind children.’ Hirman Biology, 43, 502-5 16. 18. Wurtman, R. J . , Moskowitz, M. A. (1977) ‘The pineal organ (Part l).’ New EnglandJorrrnalofMedicine. 296, 1329-1333. 19. Wurtman, R . J., Moskowitz, M. A. (1977) ‘The pineal organ (Part 2).’ New Englur~dJouri7alofMedicine, 296, 1383-1 386. 20. Anton-Tay, F.. Diaz. J. L., Fernandez-Guardiola. A. (1971) ‘On the effect nf melatonin upon the brain. Its possible therapeutic implications.’ Life Scienes, 10, 841-8
PAEDIATRIC NEUROLOGY BEFOREconsidering the needs of a speciality it is necessary to try and define it and, hopefully, to do so in the interests of those the speciality is supposed to help, rather than for the convenience of the professionals. It is usually accepted that neurology includes the study of disorders of the central nervous system, peripheral nervous system and muscles. It cannot be confined to rarities, althought these are of obvious importance, but in paediatrics must be concerned with the many acute and chronic conditions affecting these parts of the body, including epilepsy, cerebral palsy, mental handicap and learning disorders. Such neurological problems present one of the largest groups of diseases seen by paediatricians, but obviously the paediatric neurologist will only be involved in a small part of this work. just as only a fraction of the neurological disorders affecting adults are seen by neurologists working in this field. In any case, a variety of approaches is desirable since experts are always at a certain disadvantage and at danger of taking too narrow a view of life. The development of such expertise is bound to differ from one country to another, depending on individual needs and resources, and this is as it should be so long as there is a free exchange of ideas. Paediatric neurology overlaps a number of specialties apart from paediatrics itself, for example child psychiatry; and there are strong arguments for maintaining that the care of the handicapped is a speciality in its own right, although it is essential that the neurologist be involved in this work. The habilitationist has to be an expert in physical medicine, able to discuss problems with physiotherapists. occupational therapists, speech therapists, psychologists, teachers, social workers, parents and others. He will also have to have a detailed knowledge of paediatrics, and community paediatrics in particular. Such work, to be done adequately, needs a total involvement which may be impossible to maintain without specialisation. There is no reason b h y a paediatric neurologist should not specialise in the care and management of the mentally and physically handicapped child, but if he does the time involved is bound to curtail other activities. Paediatricians working in the community will spend a large part of their time dealing with neurological problems, and there is no clear-cut division between paediatric neurology and child psychiatry. M a n y doctors with different types of basic training will therefore be involved in helping
670
ANNOTATIONS
children with neurological disorders, but the very magnitude of the problems suggests that, in Britain at least, insufficient resources have so far been given to paediatric neurology itself, particularly as far as teaching and research are concerned. There are many acute neurological problems-such as infections of the nervous system, status epilepticus and metabolic disorders-which demand prompt attention if life-long handicap and possible death are to be avoided; and in most paediatric centres these can be adequately dealt with. The same cannot be said of the services for children with chronic neurological disabilities, and more time and effort in teaching, research and the commitment of services must be given to this speciality if improvement is to be assured. It is no accident that so many of the voluntary societies and charitable institutions operate in this field. Parents have been dissatisfied with the help given to their child and have banded together to act as a pressure group; and there can be no doubt that the doctor must also be in the forefront of those demanding better services. Paediatric neurology should not be regarded as a super-speciality, but very much as a part of paediatrics. Paediatric neurology must have three main bases. It must include all that is understood by the term ‘neurology’, which is not just an accumulation of facts related to conditions which are often rare, but a way of thought, and a discipline in the old sense of the word, influencing the approach to a patient’s problems. This is the real need for adequate training in neurology, which more often than not will have to be obtained in a neurological department devoted mainly to adult disorders. It must also include a detailed knowledge of developmental paediatrics, as only then can delay and defects of development and learning be adequately assessed. Finally, as already stated, paediatric neurology must be closely involved in the care of the handicapped child. In the past, neurologists have been criticised for being interested only in diagnosis and not in the possibilities for treatment. This is particularly unjustified in the case of paediatric neurology. Apart from all the acute problems in which prevention and treatment are of vital importance if morbidity and mortality are to be reduced, it must again be emphasised that the paediatric neurologist has to contribute to the management and treatment of children with long-term neurological handicaps. If there is only a commitment to diagnosis and assessment, and not to treatment, there are valid grounds for criticism. On the other hand, neurologists must avoid the arrogance of supposing that they have all the answers, and must admit the need for help from a number of other experts. The paediatric neurologist must work as a member of a team, based on an assessment centre, the other members including other medical specialists, physiotherapists, psychologists, social workers, speech therapists and teachers. Help from these other disciplines is as important in the more chronic neurological problems as are the contributions of the biochemist, pathologist and radiologist in coping with the acute ones. If it is accepted that paediatric neurology does constitute such a large part of paediatrics, it is desirable that there should be specialisation within this field, as there is in adult neurology. For example, some paediatric neurologists will have a particular interest in epilepsy, some in muscle disorders, some in metabolic diseases and some in learning disabilities. If paediatric neurology is a widely-based speciality, it must follow that many of the paediatric problems of this day and age are neurological, and that they overlap the social and educational fields to a special degree. In order to help the development of paediatric neurology, it should be recognised as a speciality in its own right, with its own training and career structure. It is a rapidly developing field and it can profit by support from both paediatrics and neurology. If it remains a sub-speciality of paediatrics, as is the case at 671
DEVELOPMENTAL MEDICINE AND CHILD
NEUROLOGY. 1978, 20
present in the United Kingdom, there is more difficulty in attracting people from other specialities, such as neurology, to work in this field. Several decades ago it was considered by many that neurologists working among adults were undesirable and that all that was needed were physicians with neurological leanings. This is no longer acceptable, so it seems illogical that the same should not apply in paediatrics. In fact it is essential that it does apply if the advances so obviously needed are to be made. NEILGORDON Booth Hall Children's Hospital, Charlestown Road, Blackley. Manchester M9 2AA. (The viewi expressed here are the author's, and not necessarily those of this journal. Ed.)
CEREBELLAR ATAXIA IN INFANCY AND CHILDHOOD RELATED TO A DISTURBANCE OF PYRUVATE AND LACTATE METABOLISM C E R ~ U ~ Lataxia L A R is a common neurological problem in childhood. In an older child the signs are usually readily detectable, but in an infant or young child recognition may be much more difficult and sometimes the signs may be overlooked. The earliest evidence may be delay in motor development and hypotonia, but other indicative features may be misery, a tendency to be excessively clinging, and an unwillingness to be left unsupported. Because of the difficulty in recognizing the signs and symptoms of ataxia in the infant and young child, it follows that on the one hand the ataxia may not have begun as suddenly as suggested by the history, and on the other that a history of progressive ataxia may often be difficult to elicit. Nevertheless, it is important for genetic, prognostic (and sometimes therapeutic) reasons to be able to distinguish the inherently progressive and/or intermittent causes of ataxia from the non-progressive ones. The spino-cerebellar degenerations,' of which Friedreich's ataxia remains the preeminent example, have remained an ill-sorted, ill-understood group of inherited disorders without, hitherto. any consistent biochemical abnormality having been demonstrated. However, recent studies2 have shown convincing evidence of reduced activities of the pyruvate dehydrogenase and oxoglutarate dehydrogenase (z-ketoglutarate dehydrogenase) enzyme complexes (see Fig. 1) in cultured skin fibroblasts of patients with Friedreich's ataxia. The pyruvate dehydrogenase complex of enzymes consists of several distinct compon e n t ~but only three of them are involved in the oxidative decarboxylation of pyruvate: these are pyruvate decarboxylase, dihydrolipoyltransacetylase and dihydrolipoyl dehydrogenase. The last of these is also a component of the x-ketoglutarate dehydrogenase complex of enzymes which catalyses the oxidative decarboxylation of x-ketoglutarate within the tricarboxylic acid cycle, and it could be predicted theoretically that a deficiency of this enzyme would lead to a decreased activity of both the pyruvate and oxoglutarate dehydrogenaqe complexes. In practice, studies do suggest that there is a deficiency of dihydrolipoyl dehydrogenase (Iipoamide dehydrogenase) in the cultured cells of patients with Friedreich's atauia.' Deticiencre\ of these enzyme complexes are not confined to patients with Friedreich's 672
1978,20
J I . Orth, D. N., Island, D. P. (1969) ‘Light synchronization of the circadian rhythm in plasma cortisol
(17-OHCS) concentration in man.’ Joitrnal of‘Clinical Endocrinology and Metabolism, 29,479486. 12. Krieger. D. T., Rizzo, F. (1971) ’Circadian periodicity of plasma 1I-hydroxycorticosteroid levels in 8, 165-179. subjects with partial and absent light perception.’ Nertroendocrinolog~~, 13. Magee, K., Basinska, J.. Quarrington, B., Stancer, H. C. (1970) ‘Blindness and menarche.’Life Sciences, 9, 7-12. 14. Sans, L. J. (1977) ‘Ovulation symptoms and ovarian function in blind women.’ Ferfilifyand Sterilify, 28, 277-278. 15. Bellastella, A,, Colucci. C. F., D’Alessandro, B., Lo Cicero, M. (1977) ‘L-Dopa stimulated growth hormone release in the blind.’ Journal of Clinical Endocrinology and Metabolism, 44,194-195. 16. Reinberg. A., Lagoguey, M., Chauffournier, J. M., Cesselin, F. (1975) ‘Circannual and circadian rhythms in plasma testosterone in five healthy young Parisian males.’ Acfa Endocrinologica, 80,732-743. 17. Marshall, W. A,, Swan, A. V. (1971) ‘Seasonal variation in growth rates of normal and blind children.’ Hirman Biology, 43, 502-5 16. 18. Wurtman, R. J . , Moskowitz, M. A. (1977) ‘The pineal organ (Part l).’ New EnglandJorrrnalofMedicine. 296, 1329-1333. 19. Wurtman, R . J., Moskowitz, M. A. (1977) ‘The pineal organ (Part 2).’ New Englur~dJouri7alofMedicine, 296, 1383-1 386. 20. Anton-Tay, F.. Diaz. J. L., Fernandez-Guardiola. A. (1971) ‘On the effect nf melatonin upon the brain. Its possible therapeutic implications.’ Life Scienes, 10, 841-8
PAEDIATRIC NEUROLOGY BEFOREconsidering the needs of a speciality it is necessary to try and define it and, hopefully, to do so in the interests of those the speciality is supposed to help, rather than for the convenience of the professionals. It is usually accepted that neurology includes the study of disorders of the central nervous system, peripheral nervous system and muscles. It cannot be confined to rarities, althought these are of obvious importance, but in paediatrics must be concerned with the many acute and chronic conditions affecting these parts of the body, including epilepsy, cerebral palsy, mental handicap and learning disorders. Such neurological problems present one of the largest groups of diseases seen by paediatricians, but obviously the paediatric neurologist will only be involved in a small part of this work. just as only a fraction of the neurological disorders affecting adults are seen by neurologists working in this field. In any case, a variety of approaches is desirable since experts are always at a certain disadvantage and at danger of taking too narrow a view of life. The development of such expertise is bound to differ from one country to another, depending on individual needs and resources, and this is as it should be so long as there is a free exchange of ideas. Paediatric neurology overlaps a number of specialties apart from paediatrics itself, for example child psychiatry; and there are strong arguments for maintaining that the care of the handicapped is a speciality in its own right, although it is essential that the neurologist be involved in this work. The habilitationist has to be an expert in physical medicine, able to discuss problems with physiotherapists. occupational therapists, speech therapists, psychologists, teachers, social workers, parents and others. He will also have to have a detailed knowledge of paediatrics, and community paediatrics in particular. Such work, to be done adequately, needs a total involvement which may be impossible to maintain without specialisation. There is no reason b h y a paediatric neurologist should not specialise in the care and management of the mentally and physically handicapped child, but if he does the time involved is bound to curtail other activities. Paediatricians working in the community will spend a large part of their time dealing with neurological problems, and there is no clear-cut division between paediatric neurology and child psychiatry. M a n y doctors with different types of basic training will therefore be involved in helping
670
ANNOTATIONS
children with neurological disorders, but the very magnitude of the problems suggests that, in Britain at least, insufficient resources have so far been given to paediatric neurology itself, particularly as far as teaching and research are concerned. There are many acute neurological problems-such as infections of the nervous system, status epilepticus and metabolic disorders-which demand prompt attention if life-long handicap and possible death are to be avoided; and in most paediatric centres these can be adequately dealt with. The same cannot be said of the services for children with chronic neurological disabilities, and more time and effort in teaching, research and the commitment of services must be given to this speciality if improvement is to be assured. It is no accident that so many of the voluntary societies and charitable institutions operate in this field. Parents have been dissatisfied with the help given to their child and have banded together to act as a pressure group; and there can be no doubt that the doctor must also be in the forefront of those demanding better services. Paediatric neurology should not be regarded as a super-speciality, but very much as a part of paediatrics. Paediatric neurology must have three main bases. It must include all that is understood by the term ‘neurology’, which is not just an accumulation of facts related to conditions which are often rare, but a way of thought, and a discipline in the old sense of the word, influencing the approach to a patient’s problems. This is the real need for adequate training in neurology, which more often than not will have to be obtained in a neurological department devoted mainly to adult disorders. It must also include a detailed knowledge of developmental paediatrics, as only then can delay and defects of development and learning be adequately assessed. Finally, as already stated, paediatric neurology must be closely involved in the care of the handicapped child. In the past, neurologists have been criticised for being interested only in diagnosis and not in the possibilities for treatment. This is particularly unjustified in the case of paediatric neurology. Apart from all the acute problems in which prevention and treatment are of vital importance if morbidity and mortality are to be reduced, it must again be emphasised that the paediatric neurologist has to contribute to the management and treatment of children with long-term neurological handicaps. If there is only a commitment to diagnosis and assessment, and not to treatment, there are valid grounds for criticism. On the other hand, neurologists must avoid the arrogance of supposing that they have all the answers, and must admit the need for help from a number of other experts. The paediatric neurologist must work as a member of a team, based on an assessment centre, the other members including other medical specialists, physiotherapists, psychologists, social workers, speech therapists and teachers. Help from these other disciplines is as important in the more chronic neurological problems as are the contributions of the biochemist, pathologist and radiologist in coping with the acute ones. If it is accepted that paediatric neurology does constitute such a large part of paediatrics, it is desirable that there should be specialisation within this field, as there is in adult neurology. For example, some paediatric neurologists will have a particular interest in epilepsy, some in muscle disorders, some in metabolic diseases and some in learning disabilities. If paediatric neurology is a widely-based speciality, it must follow that many of the paediatric problems of this day and age are neurological, and that they overlap the social and educational fields to a special degree. In order to help the development of paediatric neurology, it should be recognised as a speciality in its own right, with its own training and career structure. It is a rapidly developing field and it can profit by support from both paediatrics and neurology. If it remains a sub-speciality of paediatrics, as is the case at 671
DEVELOPMENTAL MEDICINE AND CHILD
NEUROLOGY. 1978, 20
present in the United Kingdom, there is more difficulty in attracting people from other specialities, such as neurology, to work in this field. Several decades ago it was considered by many that neurologists working among adults were undesirable and that all that was needed were physicians with neurological leanings. This is no longer acceptable, so it seems illogical that the same should not apply in paediatrics. In fact it is essential that it does apply if the advances so obviously needed are to be made. NEILGORDON Booth Hall Children's Hospital, Charlestown Road, Blackley. Manchester M9 2AA. (The viewi expressed here are the author's, and not necessarily those of this journal. Ed.)
CEREBELLAR ATAXIA IN INFANCY AND CHILDHOOD RELATED TO A DISTURBANCE OF PYRUVATE AND LACTATE METABOLISM C E R ~ U ~ Lataxia L A R is a common neurological problem in childhood. In an older child the signs are usually readily detectable, but in an infant or young child recognition may be much more difficult and sometimes the signs may be overlooked. The earliest evidence may be delay in motor development and hypotonia, but other indicative features may be misery, a tendency to be excessively clinging, and an unwillingness to be left unsupported. Because of the difficulty in recognizing the signs and symptoms of ataxia in the infant and young child, it follows that on the one hand the ataxia may not have begun as suddenly as suggested by the history, and on the other that a history of progressive ataxia may often be difficult to elicit. Nevertheless, it is important for genetic, prognostic (and sometimes therapeutic) reasons to be able to distinguish the inherently progressive and/or intermittent causes of ataxia from the non-progressive ones. The spino-cerebellar degenerations,' of which Friedreich's ataxia remains the preeminent example, have remained an ill-sorted, ill-understood group of inherited disorders without, hitherto. any consistent biochemical abnormality having been demonstrated. However, recent studies2 have shown convincing evidence of reduced activities of the pyruvate dehydrogenase and oxoglutarate dehydrogenase (z-ketoglutarate dehydrogenase) enzyme complexes (see Fig. 1) in cultured skin fibroblasts of patients with Friedreich's ataxia. The pyruvate dehydrogenase complex of enzymes consists of several distinct compon e n t ~but only three of them are involved in the oxidative decarboxylation of pyruvate: these are pyruvate decarboxylase, dihydrolipoyltransacetylase and dihydrolipoyl dehydrogenase. The last of these is also a component of the x-ketoglutarate dehydrogenase complex of enzymes which catalyses the oxidative decarboxylation of x-ketoglutarate within the tricarboxylic acid cycle, and it could be predicted theoretically that a deficiency of this enzyme would lead to a decreased activity of both the pyruvate and oxoglutarate dehydrogenaqe complexes. In practice, studies do suggest that there is a deficiency of dihydrolipoyl dehydrogenase (Iipoamide dehydrogenase) in the cultured cells of patients with Friedreich's atauia.' Deticiencre\ of these enzyme complexes are not confined to patients with Friedreich's 672
