Brain & Development 37 (2015) 367–369 www.elsevier.com/locate/braindev
Editorial
2014: Passing of the guard in International Child Neurology q ICNApedia, the website of the International Child Neurology Association (ICNA), reported recently the sad news of the passing this year of three pioneers in child neurology. Two were among the dwindling cohort of ICNA’s founders: Professor Yukio Fukuyama (1928–2014) and Dr. Masaya Segawa (1936–2014), both from Tokyo; the third was one of child neurology’s mentors, Dr. Heinz Prechtl (1927–2014) from the Netherlands, the clinical neuroscientist who did so much to open our eyes to the unsuspectedly complex behavioral repertoire of neonates. As their contemporary, who already as medical student in Switzerland had selected the then non-existent profession of child neurologist and had come to New York to pursue it, and later enthusiastically supported the creation of ICNA, allow me to share a few personal memories of Drs. Fukuyama and Segawa dating back to the 1975 First International Congress of Child Neurology in Toronto elegantly organized by ICNA’s founding president, Professor J. Stobo Prichard. My two Japanese colleagues epitomize, for all to see, the potentially fundamental contributions of the clinician–scientist, a currently endangered species whose— in some cases ground-breaking—discoveries derive from close observation of their living, behavioring patients. Today, clinical discoveries are likely to be eclipsed by the many important and welcome molecular biologic and functional neuroimaging discoveries that illuminate detailed pathophysiologic mechanisms of neurologic disorders and, hopefully, will lead to specific pharmacologic interventions, but without explaining the full clinical condition that impacts the life of the affected individual [1]. Dr. Fukuyama from the vantage-point of academe—The Tokyo Women’s Medical College, Dr. Segawa’s from the private practice of neurology, both had the eye of a clinical researcher for whom each successive patient provides the opportunity for a
q This article was partly reproduced from the International Child Neurology Association’s webpage ICNApedia on December 21, 2014 by courtesy of ICNA.
potentially new discovery illuminating brain function; each of them made ground-breaking contributions. Dr. Fukuyama was the uncontested father of Asian child neurology, first in Japan by founding the Japanese Society in 1961, then as a founder in 1983 and later president of the Asian and Oceanian Association of Child Neurology which spans the world from Istanbul to New Zealand. Until almost the nineties many American child neurologists turned up their noses at static encephalopathies and intellectual disability, leaving affected children’s care to developmental pediatricians better versed in remedial education and other mitigating interventions, but often with scant knowledge of the nervous system. This choice contrasts with Dr. Fukuyama’s who, in the seventies, organized bi-yearly multi-disciplinary symposia addressing research and therapies for developmentally handicapped children. Unlike some of his Western counterparts, Dr. Fukuyama had a soft voice and deprecating demeanor, at least at ICNA Board meetings, even during his years as ICNA president. This modest persona was deceptive as it belied his incredible energy and organizational skills. He had chaired the first Japanese child neurology meeting in 1961 with an attendance of hundreds, started publication of the Japanese child neurology journal No to Hattatsu in 1969 and of the international journal Brain and Development in 1979. Today what child neurologists worldwide are most likely to know Dr. Fukuyama for is his description in 1960 of Fukuyama muscular dystrophy [2], perhaps the first recognized muscle/brain disease, under continuous genetic investigation to this day. Most are also aware of his multiple contributions to childhood epilepsy, in particular infantile spasms, and to many other neurologic disorders of children. My first encounter with Dr. Segawa was the five abstracts he submitted to the Program Committee of the first International Child Neurology Congress in 1975. What was the Committee to do with such a prolific member whose name was new to me and whose contributions accounted for some 15% of free submissions? Dr. Prichard solved the dilemma by organizing not only topical platform symposia anchored by an invited
http://dx.doi.org/10.1016/j.braindev.2015.01.005 0387-7604/Ó 2015 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.
368
Editorial / Brain & Development 37 (2015) 367–369
speaker, but also at the time new-fangled topical poster sessions at which attendance and intermingling was guaranteed by tables spread with wines and tempting cheeses. It is to 1975 ICNA international attendees that Dr. Segawa presented the first report of dystonia with diurnal fluctuations, now DTY 5a or Segawa disease. Dr. Robert Ouvrier from Sydney Australia, later ICNA president and AOACN member, put it on the world map with his description of 3 cases in the 1978 Annals of Neurology [4] in which he credits Dr. Segawa with his 1976 princeps publication of 9 Japanese cases [3], likely those he told us about in Toronto. Identifying a dramatically treatable, formerly hopelessly disabling neurologic disorder: what a unique and magnificent contribution! I met Dr. Segawa often as he, like Dr. Fukuyama, faithfully attended every International Child Neurology Congress and many neurology meetings in the USA and elsewhere, often with his close colleague Dr. Yoshiko Nomura. It is no accident that he had been a long-time scholar of brainstem and sub-cortical nuclei and their neurotransmitters—in particular dopamine so miraculously effective in “his” disease—which also prompted long-standing novel hypotheses about the physiology of sleep and gait in autism [5]. He too was overly modest. With his charming violist wife, he was the guardian of his father’s ancestral Japanese house with paper walls, noiselessly sliding doors, a tea house, and a small stream bubbling through a shaded moss and bamboo garden. He invited me, and no doubt other visiting child neurologists, to this oasis of peace and silence sited beside his clinic, right in the middle of bustling Tokyo which, thankfully, escaped end-of-World War II American bombing. When I was in training and a fledgling teacher of child neurology, we were imbued with Dr. Prechtl from Groningen in the Netherlands’ observations of the complex behavioral repertoire of the newborn, and later the fetus. Trained in medicine in Austria, he came to his pioneering research influenced by the ethologic studies of his award-winning mentor, Nobelist Konrad Lorenz, famous for his discovery of maternal imprinting in newly-hatched goslings. Prechtl’s work in human neonates spawned groups of child neurologists specialized in neonatology in Paris, London, Canada, and elsewhere who insisted that babies are not insensate blobs and deserve respect and protection from pain. I learned from Dr. Prechtl—whom I never met—that the deployment of some complex coordinated innate behaviors depend on pre-programmed fetally-developed neural networks triggered by ubiquitous environmental experiences, and honed over weeks or months by repeated postnatal exposure. The birth of my son Peter provided the opportunity to share this exciting revelation with students when I brought him in at 4 weeks, while still on
maternity leave, to demonstrate to the 2nd year Einstein student class some of his behavioral prowess, including supported ambulation, but also attentive eye contact, and adaptation to cuddling. ICNA has been blessed from the start—and still is— with outstanding clinician-investigators [6]. May the deluge of unyielding computerized reports that dictate what they are to see not kill the desire of young doctors to observe and record what the clinic privileges them to observe on their own and share with colleagues around the world. As well known, many of the truly revolutionary scientific discoveries, from Galen to Lister, Semmelweiss, Pasteur, and others like our now lost colleagues Prechtl, Fukuyama and Segawa, were the gifts of individual patients to their astutely observing caring physician. These discoveries were neither the statistical products of meta-analyses of compiled international case series, nor the discovery of the nth mutation increasing slightly the risk of some behaviorally-defined syndrome. However important for research and treatment genetic and pathophysiologic discoveries may become, they will not supersede the careful synthetic eye of the informed and inquisitive clinician.
Financial or other support None.
Acknowledgment The author expresses her gratitude for permission to adapt this piece’s text from Webmaster of the International Child Neurology Association’s website ICNApedia where the original text was posted on December 21, 2014.
References [1] Rapin I. Classification of behaviorally defined disorders: biology versus the DSM. J Autism Dev Disord 2014;44:2661–6. [2] Fukuyama Y, Kawazura M, Haruna H. A peciliar form of congenital progressive muscular dystrophy. Report of five cases. Paediatr Univ Tokyo 1960;4:5–8. [3] Segawa M, Hosaka A, Miyagawa F, Nomura Y, Imai H. Hereditary progressive dystonia with marked diurnal fluctuation. Adv Neurol 1976;14:215–33. [4] Ouvrier RA. Progressive dystonia with marked diurnal fluctuation. Ann Neurol 1978;4:412–7. [5] Segawa M, Nomura Y. Pathophysiology of autism: evaluation of sleep and locomotion. In: Tuchman RF, Rapin I, editors. London, U.K.: Mac Keith Press; 2006. p. 248–64. [6] Rapin I. The International Child Neurology Association: the first 25 years. Brain Dev 1999;21:3–15.
Editorial / Brain & Development 37 (2015) 367–369
369
⇑
Isabelle Rapin Saul R. Korey Department of Neurology, Department of Pediatrics, and Rose F. Kennedy Center for Research on Intellectual and Developmental Disabilities, Albert Einstein College of Medicine, Bronx, NY, USA E-mail address: [email protected]
⇑ Address: 4905 Route 9G, Tivoli NY 12583, USA.
Editorial
2014: Passing of the guard in International Child Neurology q ICNApedia, the website of the International Child Neurology Association (ICNA), reported recently the sad news of the passing this year of three pioneers in child neurology. Two were among the dwindling cohort of ICNA’s founders: Professor Yukio Fukuyama (1928–2014) and Dr. Masaya Segawa (1936–2014), both from Tokyo; the third was one of child neurology’s mentors, Dr. Heinz Prechtl (1927–2014) from the Netherlands, the clinical neuroscientist who did so much to open our eyes to the unsuspectedly complex behavioral repertoire of neonates. As their contemporary, who already as medical student in Switzerland had selected the then non-existent profession of child neurologist and had come to New York to pursue it, and later enthusiastically supported the creation of ICNA, allow me to share a few personal memories of Drs. Fukuyama and Segawa dating back to the 1975 First International Congress of Child Neurology in Toronto elegantly organized by ICNA’s founding president, Professor J. Stobo Prichard. My two Japanese colleagues epitomize, for all to see, the potentially fundamental contributions of the clinician–scientist, a currently endangered species whose— in some cases ground-breaking—discoveries derive from close observation of their living, behavioring patients. Today, clinical discoveries are likely to be eclipsed by the many important and welcome molecular biologic and functional neuroimaging discoveries that illuminate detailed pathophysiologic mechanisms of neurologic disorders and, hopefully, will lead to specific pharmacologic interventions, but without explaining the full clinical condition that impacts the life of the affected individual [1]. Dr. Fukuyama from the vantage-point of academe—The Tokyo Women’s Medical College, Dr. Segawa’s from the private practice of neurology, both had the eye of a clinical researcher for whom each successive patient provides the opportunity for a
q This article was partly reproduced from the International Child Neurology Association’s webpage ICNApedia on December 21, 2014 by courtesy of ICNA.
potentially new discovery illuminating brain function; each of them made ground-breaking contributions. Dr. Fukuyama was the uncontested father of Asian child neurology, first in Japan by founding the Japanese Society in 1961, then as a founder in 1983 and later president of the Asian and Oceanian Association of Child Neurology which spans the world from Istanbul to New Zealand. Until almost the nineties many American child neurologists turned up their noses at static encephalopathies and intellectual disability, leaving affected children’s care to developmental pediatricians better versed in remedial education and other mitigating interventions, but often with scant knowledge of the nervous system. This choice contrasts with Dr. Fukuyama’s who, in the seventies, organized bi-yearly multi-disciplinary symposia addressing research and therapies for developmentally handicapped children. Unlike some of his Western counterparts, Dr. Fukuyama had a soft voice and deprecating demeanor, at least at ICNA Board meetings, even during his years as ICNA president. This modest persona was deceptive as it belied his incredible energy and organizational skills. He had chaired the first Japanese child neurology meeting in 1961 with an attendance of hundreds, started publication of the Japanese child neurology journal No to Hattatsu in 1969 and of the international journal Brain and Development in 1979. Today what child neurologists worldwide are most likely to know Dr. Fukuyama for is his description in 1960 of Fukuyama muscular dystrophy [2], perhaps the first recognized muscle/brain disease, under continuous genetic investigation to this day. Most are also aware of his multiple contributions to childhood epilepsy, in particular infantile spasms, and to many other neurologic disorders of children. My first encounter with Dr. Segawa was the five abstracts he submitted to the Program Committee of the first International Child Neurology Congress in 1975. What was the Committee to do with such a prolific member whose name was new to me and whose contributions accounted for some 15% of free submissions? Dr. Prichard solved the dilemma by organizing not only topical platform symposia anchored by an invited
http://dx.doi.org/10.1016/j.braindev.2015.01.005 0387-7604/Ó 2015 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.
368
Editorial / Brain & Development 37 (2015) 367–369
speaker, but also at the time new-fangled topical poster sessions at which attendance and intermingling was guaranteed by tables spread with wines and tempting cheeses. It is to 1975 ICNA international attendees that Dr. Segawa presented the first report of dystonia with diurnal fluctuations, now DTY 5a or Segawa disease. Dr. Robert Ouvrier from Sydney Australia, later ICNA president and AOACN member, put it on the world map with his description of 3 cases in the 1978 Annals of Neurology [4] in which he credits Dr. Segawa with his 1976 princeps publication of 9 Japanese cases [3], likely those he told us about in Toronto. Identifying a dramatically treatable, formerly hopelessly disabling neurologic disorder: what a unique and magnificent contribution! I met Dr. Segawa often as he, like Dr. Fukuyama, faithfully attended every International Child Neurology Congress and many neurology meetings in the USA and elsewhere, often with his close colleague Dr. Yoshiko Nomura. It is no accident that he had been a long-time scholar of brainstem and sub-cortical nuclei and their neurotransmitters—in particular dopamine so miraculously effective in “his” disease—which also prompted long-standing novel hypotheses about the physiology of sleep and gait in autism [5]. He too was overly modest. With his charming violist wife, he was the guardian of his father’s ancestral Japanese house with paper walls, noiselessly sliding doors, a tea house, and a small stream bubbling through a shaded moss and bamboo garden. He invited me, and no doubt other visiting child neurologists, to this oasis of peace and silence sited beside his clinic, right in the middle of bustling Tokyo which, thankfully, escaped end-of-World War II American bombing. When I was in training and a fledgling teacher of child neurology, we were imbued with Dr. Prechtl from Groningen in the Netherlands’ observations of the complex behavioral repertoire of the newborn, and later the fetus. Trained in medicine in Austria, he came to his pioneering research influenced by the ethologic studies of his award-winning mentor, Nobelist Konrad Lorenz, famous for his discovery of maternal imprinting in newly-hatched goslings. Prechtl’s work in human neonates spawned groups of child neurologists specialized in neonatology in Paris, London, Canada, and elsewhere who insisted that babies are not insensate blobs and deserve respect and protection from pain. I learned from Dr. Prechtl—whom I never met—that the deployment of some complex coordinated innate behaviors depend on pre-programmed fetally-developed neural networks triggered by ubiquitous environmental experiences, and honed over weeks or months by repeated postnatal exposure. The birth of my son Peter provided the opportunity to share this exciting revelation with students when I brought him in at 4 weeks, while still on
maternity leave, to demonstrate to the 2nd year Einstein student class some of his behavioral prowess, including supported ambulation, but also attentive eye contact, and adaptation to cuddling. ICNA has been blessed from the start—and still is— with outstanding clinician-investigators [6]. May the deluge of unyielding computerized reports that dictate what they are to see not kill the desire of young doctors to observe and record what the clinic privileges them to observe on their own and share with colleagues around the world. As well known, many of the truly revolutionary scientific discoveries, from Galen to Lister, Semmelweiss, Pasteur, and others like our now lost colleagues Prechtl, Fukuyama and Segawa, were the gifts of individual patients to their astutely observing caring physician. These discoveries were neither the statistical products of meta-analyses of compiled international case series, nor the discovery of the nth mutation increasing slightly the risk of some behaviorally-defined syndrome. However important for research and treatment genetic and pathophysiologic discoveries may become, they will not supersede the careful synthetic eye of the informed and inquisitive clinician.
Financial or other support None.
Acknowledgment The author expresses her gratitude for permission to adapt this piece’s text from Webmaster of the International Child Neurology Association’s website ICNApedia where the original text was posted on December 21, 2014.
References [1] Rapin I. Classification of behaviorally defined disorders: biology versus the DSM. J Autism Dev Disord 2014;44:2661–6. [2] Fukuyama Y, Kawazura M, Haruna H. A peciliar form of congenital progressive muscular dystrophy. Report of five cases. Paediatr Univ Tokyo 1960;4:5–8. [3] Segawa M, Hosaka A, Miyagawa F, Nomura Y, Imai H. Hereditary progressive dystonia with marked diurnal fluctuation. Adv Neurol 1976;14:215–33. [4] Ouvrier RA. Progressive dystonia with marked diurnal fluctuation. Ann Neurol 1978;4:412–7. [5] Segawa M, Nomura Y. Pathophysiology of autism: evaluation of sleep and locomotion. In: Tuchman RF, Rapin I, editors. London, U.K.: Mac Keith Press; 2006. p. 248–64. [6] Rapin I. The International Child Neurology Association: the first 25 years. Brain Dev 1999;21:3–15.
Editorial / Brain & Development 37 (2015) 367–369
369
⇑
Isabelle Rapin Saul R. Korey Department of Neurology, Department of Pediatrics, and Rose F. Kennedy Center for Research on Intellectual and Developmental Disabilities, Albert Einstein College of Medicine, Bronx, NY, USA E-mail address: [email protected]
⇑ Address: 4905 Route 9G, Tivoli NY 12583, USA.
