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Endemic Cretinism in the Jimi Valley of New Guinea Presents a Wide-Spectrum with Abnormalities of Hearing and Speech, Mental Deficiency, a Diplegia and Strabismus

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Endemic Cretinism in the Jimi Valley of New Guinea Presents a Wide-Spectrum with Abnormalities of Hearing and Speech, Mental Deficiency, a Diplegia and Strabismus ENDEMIC CRETINISM in the JIMI VALLEY of NEW GUINEA - P.O.D. Pharoah, KB., B.S., B.Sc. STATEMENT In 1966, discussions were held between Professor B.S. Hetzel, Dr. I.H. Buttfield and myself and the decision was made to set up a controlled trial on the effectiveness of iodised oil in the prevention of endemic cretinism. Subsequently a patrol to the Jimi valley was made in August 1966 by Dr. Buttfield in association with Mr. M.D. Brown of the Department of District Administration. On this patrol, the census was conducted and Dr. Buttfield determined the goitre gradings and supervised the administration of iodised oil. All subsequent field work and collection of samples described in this thesis was carried out by me. Laboratory investigations, were performed at the Institute of Nuclear Medicine, the Middlesex Hospital, London, Prince Henry's Hospital, Melbourne, Laboratory Services Pty. Ltd., Melbourne and the Queen Elizabeth Hospital, Adelaide. None of the material has been incorporated in any other thesis or been presented for the purpose of obtaining any other degree. Some of the experimental data has been published in Proceedings of the 6th. International Thyroid Congress 1970, Lancet 1, 308, 1971., Papua New Guinea Medical Journal 14, 115, 1971., Papua New Guinea Institute of Human Biology Monograph Series No. 2, 109, 1971. P.O.D. Pharoah. M.B., B.S., B.Sc. June 1972. CONTENTS Acknowledgements Index of tables Index of figures Chapter One Historical Introduction 1 Terminology Endemic cretinism and hypothyroidism Endemic cretinism and endemic goitre Chapter Two The Syndrome of Endemic Cretinism 10 Definition Cretinism in Europe Cretinism in Asia Cretinism in the Americas Cretinism in Africa Discussion Chapter Three The Jimi valley and its Inhabitants 22 Introduction Geography History The People Housing Agriculture Animal Husbandry Diet Languages Health Services Educational Services Missions Economic Development Politics Chapter Four Methodology 33 Chapter Five Endemic cretinism in the Jimi valley 39 Introduction Methods Results Neurological abnormalities Growth and Dentition Endocrinology Discussion Mental Retardation Deaf-mutism Growth Serum T4 and T3 Electrocardiography Summary Chapter Six The Relation between Cretinism and Endemic goitre 52 Introduction Methods Results Goitre rates Prevalence of cretinism Goitre prevalence in women who have borne children Goitre prevalence in cretins Correlation between goitre and cretin prevalence rates Discussion Summary Chapter Seven Endemic Cretinism and Iodine Deficiency 62 Introduction Methods Results Conclusion Chapter Eight The Recent Onset of Endemic Cretinism in the Jimi valley 68 Introduction Methods Results Ecological change consequent upon European contact Traditional salt and the pax sauna Salt preparation Salt analysis Discussion Summary Chapter Nine Maternal Thyroid Function and Cretinism 78 Introduction Methods Results Thyroid binding proteins TBG and TBPA Serum T4 Serum TSH Infant Mortality and the Maternal Serum T4 Discussion Summary Chapter Ten The Pathogenesis of Endemic Cretinism 86 Maternal hypothyroidism and endemic cretinism Foetal hypothyroidism and endemic cretinism Elemental deficiencies and endemic cretinism Pendred's syndrome and endemic cretinism Maternal rubella and endemic cretinism Protein malnutrition and endemic cretinism Summary Chapter Eleven Recapitulation and Conclusions 9S' Summary Appendix Glossary of Abbreviations References ACKNOWLEDGEMENTS The work described in this thesis was carried out while the author was employed by the Department of Public Health and later while on secondment to the Institute of Human Biology. I am indebted to Dr. R.F.R. Scragg, then Director of Public Health, who allowed my secondment and provided financial assistance to the Institute of Human Biology in order' that I may concentrate on the problem of endemic goitre and cretinism. I also wish to express my thanks to many others without whose help this project could not have been carried out: To Dr. R.W. Hornabrook and Professor B.S. Hetzel who supervised the work and offered valuable advice. To Professor E.S. Williams, Drs. Y. Patel, P. Davoren and M. Wellby who performed the laboratory investigations. To Professor J.B. Stanbury for the determination of iodine content in the salt-water samples. To Dr. I.H. Buttfield who carried out the initial patrol instituting the trial of iodised oil and generously made all the census records available to me. To Mr. Raus Roga and others who accompanied and assisted me on numerous patrols. To the staff of the Anglican mission, Koinambe, the Nazarene mission Tsingoropa and the patrol post at Tabibuga who provided accommodation, stored samples and helped in many other ways. To the staff of the Institute of Human Biology who assisted with typing and the preparation of Figures and Tables. To Mr. M. Davis who arranged the printing of this thesis. To my wife and children who accepted my frequent absences from home with unfailing good humour. Last but not least, to the people of the Jimi valley for their co-operation, particularly to the women who often walked long distances to bring their children to me for examination. INDEX OF TABLES Table 1. Regional variations in endemic cretinism. Table 2. Neurological abnormalities in endemic cretins. Table 3. E.C.G. voltages in cretins. Table 4. Serum thyroxine in cretins and normal female adults. Table 5. Village goitre rates. Table 6. Village visible goitre rates. Table 7. Prevalence of cretinism. Table 8. Goitre rates in trial and control populations. Table 9. Mortality of children born to iodine-supplemented and control women. Table 10. Classification of affected children in the iodised oil trial. Table 11. Eruption of deciduous teeth. Table 12. Annual incidence of cretinism. Table 13. Salt water analysis. Table 14. Events in the Jimi Table 15. Serum P.B.I. in iodine deficient areas. Table 16. Serum thyroid-binding proteins in non-pregnant and in treated and untreated pregnant women. Table 17. Serum thyroxine in treated and untreated pregnant women. INDEX OF FIGURES Figure 1. Classification of cretinism. Figure 2. Map. Papua New Guinea and West Irian. Figure 3. Map. Languages of the Jimi valley. Figure 4. Map. The middle Jimi valley. Figure 5. Gathering of people during a survey. Figure 6. Severe head-lag in a cretinous infant. Figure 7. Normal child sitting erect. Figure 8. Cretin showing kyphotic spine. Figure 9. Standing posture in a cretin. Figure 10. Cretinous infant with a strabismus. Figure 11. Growth curve of cretins (males). Figure 12. Growth curve of cretins (females). Figure 13. Serum thyroxine levels in cretins and normal female adults. Figure 14. Serum triiodothyronine levels in cretins. Figure 15. Ages of cretins born since the trial in 1966. Figure 16. Eruption of deciduous teeth. Figure 17. Annual incidence of cretinism. Figure 18. The salt pool at Sangen. Figure 19. Serum thyroxine in pregnancy. Figure 20. Serum TSH in pregnant and non-pregnant women. Figure 21. Correlation between serum thyroxine and TSH. CHAFER ONE HISTORICAL INTRODUCTION Terminology Endemic cretinism in New Guinea is a congenital syndrome of neurological damage in which the salient features are deaf-mutism, mental retardation, a diplegia and strabismus. It closely resembles the syndrome described from other areas of the world such as the Andes (Dodge et al., 1969) and the nervous type of cretinism described by McCarrison (1908) from the Himalayas. In its symptomatology it differs from sporadic cretinism in that the majority of cases are not hypothyroid. The term cretin was first recorded in Diderot's Encyclopedie 1754 referring to "an imbecile who was deaf and dumb with a goitre hanging down to the waist". Earlier Platter (1602) had given a clinical description of the disease stating that - "many infants are wont to be afflicted: who besides their innate simplemindedness, the head is now and then misformed, the tongue immense and tumid, dumb a struma often at the throat, they show a deformed appearance and seated in solemn stateliness, staring and a stick resting be- tween their hands, their bodies twisted variously, their eyes wide apart, they show immoderate laughter and wonder at unknown things". De Quervain and Wegelin (1936) discuss the possible derivation of the term cretin. The most likely origin is from "Christianus" or "Crestin" in the south-eastern French dialect, the afflicted person being referred to as a "pauvre chretien" or "bon chretien" because of their harmlessness or innocence. Other possible derivations include "Cretira" from the Rhaeto - romanic language as a colloquialism for an unfortunate creature, or from the Latin "creta" in reference to the chalk-like pallor of the skin. Endemic cretinism and hypothyroidism There is today considerable confusion over the concept of cretinism. Initially the term was used in reference to a condition peculiar to the Alps and the Pyrenees in which the salient features were mental and physical retardation and deaf-mutism. - 2 Subsequently, in Europe, the term was used in a wider sense to encompass the whole spectrum of mental retardation. Benda (1946) noted that many "cretins" in Swiss institutions would merely have been categorised as mental defectives in the U.S.A. In contrast to the cretin of the European authors, cretinism in the English speaking countries has come to be equated with hypothyroidism. The Encyclopaedia Britannica (Landau 1966) describes cretinism as "a condition resulting from the failure of the thyroid gland to secrete its hormone from
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