Mental Retardation or Developmental Disability ( ) 2% Paradoxical Disability (Prevalence ) Down Syndrome Down Syndrome ( ) Folate PKU Phenylk

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1 Levels of Support Optimal Functioning 2003, Vol.1, No.1 43

2 Mental Retardation or Developmental Disability ( ) 2% Paradoxical Disability (Prevalence ) Down Syndrome Down Syndrome ( ) Folate PKU Phenylketonuria , Vol.1, No.1

3 (Definitions and Classification) ICD-9 ICD-10 The International Classification of Diseases (D Diagnostic and Statistical Manual-IV) American Association on Mental Retardation I.Q. Level of Impairment Support Optimal Functioning Disability Intermittent Support Handicap Limited Support Extensive Support Pervasive Support 2003, Vol.1, No.1 45

4 Etiology Cytogenetics Molecular Genetics ( ) ( (Mild) IQ: ( ) (3-5 per 1,000 Children) 50% (Mild) ( Incidence and Prevalence) True Incidence X- ( ) ( ) , Vol.1, No.1

5 Severity a.icd-9 Code b.icd-10code c. IQ Range 1) Mild F Moderate F Severe F Profound F73 9 < > 5 Unspecified F79 9 a. WHO International Classification of Disease 9 th edition, 1980 b. WHO International Classification of Disease 10 th edition, 1992 c. Precise IQ Cut-Points-AAMD, DSM-IV, APA, U.S.A. (Selected Causes of Chromosomal Anomalies Mental Retardation) Down Syndrome X- X-Linked Mental Retardation 2003, Vol.1, No.1 47

F73 9 < 20-25 > 5 Unspecified 319 00 F79 9 a. WHO International Classification of Disease 9 th edition, 1980 b.

6 X Autosomal Genetic Causes PKU, Phenylketonuria (Nutritional Prophase Causes) (Iodine Deficiency) Folate Deficiency Premature Birth Infection Environmental Toxins Metaphase Trauma Anaphase Telophase Xue C.S., Lin T.K., 1995 Meiosis Mitosis Trisomies Non-disjunction Anaphase Meiosis n Mitosis Down Syndrome XXX XXY Trisomies , Vol.1, No.1

Trauma Anaphase Telophase Xue C.S., Lin T.K.

7 X XXY XXX XXY Klinefelter s 48XXYY 48XXXY 47XXY Syndrome XYY XY/XXY (Klinefelter s Syndrome) 30% XXX Major Categories of Known Causes of Mental Retardation Causal 1. Chromosomal 2. Single Gene 3. Hormonal 4. Specific Nutritional 5. Deficiency/Dietary, Prenatal 6. Infection/Prenatal 7. Perinatal 8. Postnatal 9. Toxic Exposure Prenatal Postnatal 10., Traumatic Brain Injury, Anoxia Perinatal Postnatal 1 Specific Examples Down Syndrome Cri-du-chat(1) PKU X Fragile X Syndrome Hypothyroidism Iodine Folate PKU Rubella Toxoplasmosis Syphilis Human Immunodeficiency Virus Measles encephalitis Ionizing Radiation Fetal Alcohol Syndrome Lead Poison Lead Poison Prolonged Obstructed Labor Premature Birth. Motor Vehicle Collision Fall Near Drowning. B 5 Cri-du-chat Cat s Cry Syndrome. 2 Toxoplasmosis 2003, Vol.1, No.1 49

, Traumatic Brain Injury, Anoxia Perinatal Postnatal 1 Specific Examples Down Syndrome Cri-du-chat(1) PKU X Fragile X Syndrome Hypothyroidism Iodine Folate PKU Rubella Toxoplasmosis Syphilis Human

8 (Down Syndrome) 1960 (Genome 32 ) Trisomies Meiosis Mosaicism Transmission of a Cryptic Trisomy ( ) Amniocentesis , Vol.1, No.1

Cryptic Trisomy21 6 1960 35 35 ( ) 35 20 24 1550

9 Chorionic Villus Triple-Analyte Screening (Unconjugated Estriol Levels in Maternal Serum) C 18 H 28 O 3 First Trimester Triple Analyte - -fetoprotein 70,000 Trihydroxyestrin( XY ) (Chorionic Gonadotropin) (Ultra Sound) A 70 B A Amniotic Fluid Autosomal Trisomies Amniotic Fluid ml. 2003, Vol.1, No.1 51

70,000 Trihydroxyestrin( XY ) (Chorionic Gonadotropin) (Ultra Sound) A 70 B A

10 Hypogonadism 2 5 Duodenal Obstruction Frequenc Cataracts Childhood Leukemia Seizures Alzheimer s Disease and Dementia Hypothyroidism Epidemiologic Characteristics of Severe and Mild Mental Retardation ( ), Range Prevalence in Childhood (per 1000) Severe Mild / Mental Retardation by Maureen S. Durkin & Schupf, Nicole Zena A. Stein, and Mervyn W. Susser, in Public Health & Preventive Medicine, p , , Vol.1, No.1

5-5.0 2.5-40.0 2. 5.0-25.0 3. 4. 85 1/3 5. 6. 50 7. 8. 9. 10. 1.1 1.4 1 1.1 1.8 1 11. 30 12. Mental Retardation by Maureen S.

11 Mental Retardation A B. C. 18 D. 317 Mild Moderate Severe Profound Unspecified DSM-IV-TR American Psychiatric Association Washington, D.C., 2000 Prevention of and Mental Accepted by the World Health Retardation Organization Pollutants 4 the Joint Commission of the International 5 Association for the Scientific Study of Mental Deficiency and the International 6 League of Parents of Retarded Children 2003, Vol.1, No.1 53

, 2000 Prevention of and Mental Accepted by the World Health Retardation Organization 1 2 3 Pollutants 4 the Joint

12 11 Toxemia 12 Respiratory Distress Syndrome Hypoglycemia Community Services Anoxia , Vol.1, No.1

13 Edition, , NASW Press, Washington, DC. Lee I.C Developmental Disabilities and Social Work, In He-Ji Book, Modern Social Work A Helping Profession, , Publishing Co. Stoudemire A Human Behavior An Introduction for Medical Students-In J.B. Lippincott, Mental Retardation,216-18, Co. Philadelphia. Wallace R.B., Doebbeling B.N., Last J.M. 1998, Public Health & Preventive Medicine, In Maureen S. Durkin, Nicole Schupf, Zena A. Stein, and Mervyn W. Susser, Appleton & Lange, Stamford, Connecticut, Mental Retardation, Xue C.S., Lin T. K., 1995 Central English-Chinese Medical Dictionary. Central Book Publishing Co., Taipei, Birch H.G. Richardson etc 1970 Mental Zaman S.S., Khan N.Z., etc. 1992, Sub-normality in the Community A Childhood Disabilities in Bangladesh, Clinical and Epidemiologic Study, Dhaka Protibondhi Foundation. Baltimore Williams & Wilkins. Edwards Richard L., etc Developmental Disabilities, Encyclopedia of Social Work, 19 th 2003, Vol.1, No.1 55

Durkin, Nicole Schupf, Zena A. Stein, and Mervyn W. Susser, Appleton & Lange, Stamford, Connecticut, Mental Retardation, 1049-58. Xue C.S., Lin T. K., 1995 Central English-Chinese Medical Dictionary.

14 Mental Retardation and Down Syndrome Isaiah C. Lee Dean, College of Human Ecology and Director, Mentally Developmental Professional Study Center, Shih-Chien University. Professor - Emeritus Social Work, California State University, Long Beach Correspondence: No. 70, Dajr St., Jungshan Chiu, Taipei City, Taiwan iclee@mail.usc.edu.tw Abstract This paper is to present the basic concepts and definitions of Mental Retardation and Down Syndrome from the perspectives of public health and preventive medicine. The classification of mental retardation was briefly discussed in regard to the classifications of International Classification of Diseases and Diagnostic and Statistical Manual DSM-IV. The incidence and prevalence of mental retardation are discussed between the developed and developing countries. Their characteristics are also presented in this paper. The Epidemiologic characteristics of severe and mild mental retardation are compared. The severe nature of Down Syndrome in mental retardation and its prevention as well as community services to prevent mental retardation are also discussed. Key Words: Analyte and Gonadotropin, Down Syndrome, Genome, Mental Retardation, Mosaicism , Vol.1, No.1

tw Abstract This paper is to present the basic concepts and definitions of Mental Retardation and Down Syndrome from the perspectives of public health and preventive medicine.

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( ) 2 P.2 P.3 P.5 P.11 P.19 P.21 P.23 P.27 P.33 P.34 ( ) 2 3 4 (Down Syndrome Trisomy) 21 21 47 21 1 46 ( 1 22, ),, 23, 46 ( 5 23 ),,21, 21, 3 21, 21 35 28 38 (35 ), 21 21 6 14 14/21 " " 46 47, 40% ( ) : 7 (I.Q.25