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Investigation of Families with Two or More Mentally Defective Siblings: Clinical Observations

Investigation of Families with Two or More Mentally Defective Siblings: Clinical Observations Abstract The genetic control of metabolic processes and the close association between certain metabolic and mental defects have recently been reviewed.1,2 Within an institution for the mentally defective, however, only 2% to 3% of the patients have known biochemical abnormalities which account for their defects, while some 60% to 70% are clinically diagnosed as "familial" or "undifferentiated," indicating that the etiology of the mental defect is unknown. Many genetically determined biochemical abnormalities associated with mental defect have been first described in siblings. There were two defective brothers among the first group of patients with phenylketonuria described by Fölling3; Baron and co-workers described Hartnup disease in two sibs in one family4; Allan recently described aminoaciduria with mental deficiency in a brother and a sister5; "maple syrup" urine disease was first noted in four sibs in one family,6 and Bigler recently described an abnormality of lipoproteins in two References 1. Childs, B., and Sidbury, J. B.: A Survey of Genetics as It Applies to Problems in Medicine , Pediatrics 20:177, 1957. 2. Wright, S. W.; Tarjan, G.; Lippman, R. W., and Perry, T. L.: Etiologic Factors in Mental Deficiency: Errors of Metabolism That May Lead to Mental Deficiency , A. M. A. J. Dis. Child . 95: 541, 1958.Crossref 3. Fölling, A.: Ueber Ausscheidung von Phenylbrenztraubensäure in den Harn als Stoffwechselanomalie in Verbindung mit Imbezillität , Ztschr. Physiol. Chem. 227:169, 1935.Crossref 4. Baron, D. N.; Dent, C. E.; Harris, H.; Hart, E. W., and Jepson, J. B.: Hereditary Pellagra-like Skin Rash with Temporary Cerebellar Ataxia, Constant Renal Amino-Aciduria, and Other Bizarre Biochemical Features , Lancet 2:421, 1956.Crossref 5. Allan, J. D.; Cusworth, D. C.; Dent, C. E., and Wilson, V. K.: A Disease, Probably Hereditary, Characterised by Severe Mental Deficiency and a Constant Gross Abnormality of Aminoacid Metabolism , Lancet 1:182, 1958.Crossref 6. Menkes, J. H.; Hurst, P. L., and Craig, J. M.: A New Syndrome: Progressive Familial Infantile Cerebral Dysfunction Associated with an Unusual Urinary Substance , Pediatrics 14:462, 1954. 7. Bigler, J. A.; Mais, R., and Hsia, D. Y-Y.: A New Inborn Error of Fatty Acid Metabolism, read before the American Pediatric Society, Atlantic City, N. J., May 8-9, 1958. 8. Wilson, S. A. K.: Neurology , Ed. 2, London, Butterworth & Co., Ltd., 1954. 9. Jervis, G. A.: Phenylpyruvic Oligophrenia (Phenylketonuria) , A. Res. Nerv. & Ment. Dis., Proc. 33:259, 1954. 10. Penrose, L. S.: Biology of Mental Defect , New York, Grune & Stratton, Inc., 1949. 11. Jervis, G. A.: Genetics of Phenylpyruvic Oligophrenia , J. Ment. Sc. 85:719, 1939. 12. Wright, S. W., and Tarjan, G.: Phenylketonuria , A. M. A. J. Dis. Child . 93:405, 1957. 13. McKusick, V. A.: Heritable Disorders of Connective Tissue , St. Louis, The C. V. Mosby Company, 1956. 14. van Creveld, S.: The Lipoidoses , Advances Pediat. 6:190, 1953. 15. Ewing, J. A.: The Association of Oligophrenia and Dyskeratoses , Am. J. Ment. Deficiency 60:98, 1955. 16. Wright, S. W., and Perry, T. L.: Unpublished data. 17. Sarason, S. B., and Gladwin, T.: Psychological and Cultural Problems in Mental Subnormality: A Review of Research , Am. J. Ment. Deficiency 62:1115, 1958. 18. Lippman, R. W.; Wright, S. W., and Perry, T. L.: The Biochemical Basis of Mental Dys function: I. Mental Disease (Dysmentia) , Metabolism 6:495, 1957. 19. Lippman, R. W.; Wright, S. W., and Perry, T. L.: The Biochemical Basis of Mental Dysfunction: II. Mental Deficiency (Amentia) , Metabolism 7:274, 1958. 20. Penrose, L. S.: Clinical and Genetic Study of 1,280 Cases of Mental Defect: Special Report Series 229 , Medical Research Council, London, Her Majesty's Stationery Office, 1938. 21. Masland, R. L.: The Prevention of Mental Retardation: A Survey of Research , Am. J. Ment. Deficiency 62:991, 1958. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png A.M.A. Journal of Diseases of Children American Medical Association

Investigation of Families with Two or More Mentally Defective Siblings: Clinical Observations

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References (23)

Publisher
American Medical Association
Copyright
Copyright © 1959 American Medical Association. All Rights Reserved.
ISSN
0096-6916
DOI
10.1001/archpedi.1959.02070010447010
Publisher site
See Article on Publisher Site

Abstract

Abstract The genetic control of metabolic processes and the close association between certain metabolic and mental defects have recently been reviewed.1,2 Within an institution for the mentally defective, however, only 2% to 3% of the patients have known biochemical abnormalities which account for their defects, while some 60% to 70% are clinically diagnosed as "familial" or "undifferentiated," indicating that the etiology of the mental defect is unknown. Many genetically determined biochemical abnormalities associated with mental defect have been first described in siblings. There were two defective brothers among the first group of patients with phenylketonuria described by Fölling3; Baron and co-workers described Hartnup disease in two sibs in one family4; Allan recently described aminoaciduria with mental deficiency in a brother and a sister5; "maple syrup" urine disease was first noted in four sibs in one family,6 and Bigler recently described an abnormality of lipoproteins in two References 1. Childs, B., and Sidbury, J. B.: A Survey of Genetics as It Applies to Problems in Medicine , Pediatrics 20:177, 1957. 2. Wright, S. W.; Tarjan, G.; Lippman, R. W., and Perry, T. L.: Etiologic Factors in Mental Deficiency: Errors of Metabolism That May Lead to Mental Deficiency , A. M. A. J. Dis. Child . 95: 541, 1958.Crossref 3. Fölling, A.: Ueber Ausscheidung von Phenylbrenztraubensäure in den Harn als Stoffwechselanomalie in Verbindung mit Imbezillität , Ztschr. Physiol. Chem. 227:169, 1935.Crossref 4. Baron, D. N.; Dent, C. E.; Harris, H.; Hart, E. W., and Jepson, J. B.: Hereditary Pellagra-like Skin Rash with Temporary Cerebellar Ataxia, Constant Renal Amino-Aciduria, and Other Bizarre Biochemical Features , Lancet 2:421, 1956.Crossref 5. Allan, J. D.; Cusworth, D. C.; Dent, C. E., and Wilson, V. K.: A Disease, Probably Hereditary, Characterised by Severe Mental Deficiency and a Constant Gross Abnormality of Aminoacid Metabolism , Lancet 1:182, 1958.Crossref 6. Menkes, J. H.; Hurst, P. L., and Craig, J. M.: A New Syndrome: Progressive Familial Infantile Cerebral Dysfunction Associated with an Unusual Urinary Substance , Pediatrics 14:462, 1954. 7. Bigler, J. A.; Mais, R., and Hsia, D. Y-Y.: A New Inborn Error of Fatty Acid Metabolism, read before the American Pediatric Society, Atlantic City, N. J., May 8-9, 1958. 8. Wilson, S. A. K.: Neurology , Ed. 2, London, Butterworth & Co., Ltd., 1954. 9. Jervis, G. A.: Phenylpyruvic Oligophrenia (Phenylketonuria) , A. Res. Nerv. & Ment. Dis., Proc. 33:259, 1954. 10. Penrose, L. S.: Biology of Mental Defect , New York, Grune & Stratton, Inc., 1949. 11. Jervis, G. A.: Genetics of Phenylpyruvic Oligophrenia , J. Ment. Sc. 85:719, 1939. 12. Wright, S. W., and Tarjan, G.: Phenylketonuria , A. M. A. J. Dis. Child . 93:405, 1957. 13. McKusick, V. A.: Heritable Disorders of Connective Tissue , St. Louis, The C. V. Mosby Company, 1956. 14. van Creveld, S.: The Lipoidoses , Advances Pediat. 6:190, 1953. 15. Ewing, J. A.: The Association of Oligophrenia and Dyskeratoses , Am. J. Ment. Deficiency 60:98, 1955. 16. Wright, S. W., and Perry, T. L.: Unpublished data. 17. Sarason, S. B., and Gladwin, T.: Psychological and Cultural Problems in Mental Subnormality: A Review of Research , Am. J. Ment. Deficiency 62:1115, 1958. 18. Lippman, R. W.; Wright, S. W., and Perry, T. L.: The Biochemical Basis of Mental Dys function: I. Mental Disease (Dysmentia) , Metabolism 6:495, 1957. 19. Lippman, R. W.; Wright, S. W., and Perry, T. L.: The Biochemical Basis of Mental Dysfunction: II. Mental Deficiency (Amentia) , Metabolism 7:274, 1958. 20. Penrose, L. S.: Clinical and Genetic Study of 1,280 Cases of Mental Defect: Special Report Series 229 , Medical Research Council, London, Her Majesty's Stationery Office, 1938. 21. Masland, R. L.: The Prevention of Mental Retardation: A Survey of Research , Am. J. Ment. Deficiency 62:991, 1958.

Journal

A.M.A. Journal of Diseases of ChildrenAmerican Medical Association

Published: Apr 1, 1959

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