Diagnostic evaluation of developmental delay/mental retardation: An overview

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics - Tập 117C Số 1 - Trang 3-14 - 2003
Agatino Battaglia1,2,3, John C. Carey4
1Dr. Agatino Battaglia is adjunct professor of pediatric neurology at the University of Pisa, Division of Pediatric Neurology and Psychiatry, Department of Procreative Medicine and Pediatrics
2Stella Maris Clinical Research Institute for Child and Adolescent Neurology and Psychiatry, via dei Giacinti, 2, 56018 Calambrone (Pisa), Italy.
3adjunct professor of pediatrics at the University of Utah Health Sciences Center, Division of Medical Genetics, Department of Pediatrics. He is board certified in clinical pediatrics and in neurology. He is director of the Clinical Neurophysiology Service, head of the Center for the Study of Congenital Malformation Syndromes, and director of Research in Neuropsychiatric Genetics at the Stella Maris Clinical Research Institute for Child and Adolescent Neuropsychiatry, Calambrone (Pisa), Italy. He has a strong research interest in clinical neurophysiology, clinical dysmorphology, and neuropsychiatric genetics. He currently holds a grant of the Italian Ministry of Health devoted to studying the genetics and neurobiology of autism.
4Dr. John C. Carey is a clinical geneticist, professor of pediatrics at the University of Utah Health Sciences Center, Division of Medical Genetics, Department of Pediatrics, Salt Lake City, Utah. He is the editor in chief of the American Journal of Medical Genetics.

Tóm tắt

AbstractMental retardation (MR) is one of the few clinically important disorders for which the etiopathogenesis is still poorly understood. It is a condition of great concern for public health and society. MR is currently defined as a significant impairment of cognitive and adaptive functions, with onset before age 18 years. It may become evident during infancy or early childhood as developmental delay (DD), but it is best diagnosed during the school years. MR is estimated to occur in 1–10% of the population, and research on its etiology has always been a challenge in medicine. The etiopathogenesis encompasses so many different entities that the attending physician can sometimes feel a “virtual panic,” starting a wide‐range diagnostic evaluation. The Consensus Conference of the American College of Medical Genetics has recently established guidelines regarding the evaluation of patients with MR [Curry et al.,1997], emphasizing the high diagnostic utility of cytogenetic studies and neuroimaging in certain clinical settings. However, since then there has been substantial progress in molecular cytogenetics and neuroimaging techniques, the use of which has allowed recognition and definition of new disorders, thus increasing the diagnostic yield. This review will focus on the most appropriate investigations shown to be, at present, necessary to define the etiology of DD/MR, in the context of recommendations for the clinical evaluation of the patient with undiagnosed MR. © 2003 Wiley‐Liss, Inc.

Từ khóa


Tài liệu tham khảo

Achenbach TM, 1991, Manual for the child behavior checklist/4‐18 and 1991 profile

Allen WP, 1996, Mental retardation in South Carolina VII. Inborn errors of metabolism, Proc Greenwood Genet Ctr, 15, 76

American Psychiatric Association, 1995, Diagnostic and statistical manual of mental disorders (DSM‐IV), 39

10.1086/324342

10.1038/13810

10.1002/ajmg.10029

10.1002/(SICI)1096-8628(19980518)77:3<198::AID-AJMG4>3.0.CO;2-M

ASHG/ACMG Report, 1996, Diagnostic testing for Prader‐Willi and Angelman syndrome: report of the ASHG/ACMG test and technology transfer committee, Am J Hum Genet, 58, 1085

10.1002/ajmg.10159

10.1002/ajmg.c.10017

10.1016/0013-4694(96)88347-7

10.1212/WNL.48.4.1081

10.1002/(SICI)1096-8628(19990101)82:1<60::AID-AJMG12>3.0.CO;2-4

Battaglia A, 2001, Wolf‐Hirschhorn (4p‐) syndrome, Adv Pediatr, 48, 75, 10.1016/S0065-3101(23)00074-9

Battaglia A, 2001, 1p deletion syndrome: a common, important and often missed cause of developmental delay/mental retardation, Am J Hum Genet, 69, 193

Battaglia A, 2002, GeneReviews: genetic disease online reviews at GeneTests‐GeneClinics [Database online]

10.1002/(SICI)1096-8628(19990507)84:1<76::AID-AJMG16>3.0.CO;2-F

10.1002/1531-8249(200004)47:4<511::AID-ANA15>3.0.CO;2-N

10.1093/hmg/9.9.1377

10.1002/ajmg.10160

10.1002/ajmg.1320550122

10.1176/jnp.7.3.361

10.1111/j.1469-7610.1994.tb02300.x

Bourgeois M, 1977, Cytogenetic survey of 600 mentally retarded hospitalized patients, Encephale, 3, 361

10.1086/301624

10.1002/ajmg.1320560414

10.1093/hmg/9.7.1119

Cheng SD, 1994, Cytogenetic and molecular characterization of inverted duplicated chromosomes 15 from 11 patients, Am J Hum Genet, 55, 753

Cook EH, 1997, Autism or atypical autism in maternally but not paternally derived proximal 15q duplication, Am J Hum Genet, 60, 928

Cora T, 2000, Chromosomal abnormalities in mentally retarded children in the Konya region‐Turkey, Genet Couns, 11, 53

10.1002/(SICI)1096-8628(19970502)70:1<74::AID-AJMG14>3.0.CO;2-U

10.1093/hmg/10.9.941

10.1136/bmj.1.5177.897

Curry CJ, 1996, Diagnostic yield of genetic evaluations in developmental delay/mental retardation, Clin Res, 44, 130A

10.1002/(SICI)1096-8628(19971112)72:4<468::AID-AJMG18>3.0.CO;2-P

10.1038/sj.ejhg.5200473

10.1136/jmg.38.3.145

10.1002/ajmg.1320520117

10.1111/j.1469-8749.1988.tb14554.x

10.1002/ajmg.1298

10.1177/088307389801300907

10.1111/j.1399-0004.1998.tb04288.x

10.1002/(SICI)1096-8628(19960111)61:2<182::AID-AJMG17>3.0.CO;2-Q

10.1002/ajmg.1320550309

10.1136/jmg.34.4.314

10.1136/jmg.38.2.121

10.1002/ana.410400109

10.1002/1531-8249(200001)47:1<117::AID-ANA20>3.0.CO;2-A

10.1212/WNL.52.8.1694

10.1111/j.1651-2227.1977.tb07910.x

10.1055/s-0028-1091525

Harden A, 1982, Ceroid lipofuscinosis (Batten's disease)

10.1086/302703

10.3346/jkms.1999.14.4.377

10.1136/jmg.36.10.782

10.1046/j.1365-2788.1998.00104.x

10.1002/(SICI)1096-8628(20000103)90:1<60::AID-AJMG11>3.0.CO;2-P

10.1093/hmg/9.9.1369

10.1136/jmg.38.3.171

10.1086/323765

10.1203/00006450-198002000-00117

10.1002/ajmg.1320360116

10.1002/ajmg.c.10018

10.1002/(SICI)1098-1004(200004)15:4<382::AID-HUMU16>3.0.CO;2-8

10.1002/1096-8628(20010801)102:2<125::AID-AJMG1439>3.0.CO;2-0

10.1034/j.1399-0004.2002.610507.x

10.1136/jmg.37.6.401

10.1159/000484724

10.1016/S0140-6736(99)03070-6

Kodama Y, 1982, Cytogenetic and dermatoglyphic studies on severely handicapped patients in an institution, Acta Med Okayama, 36, 383

10.1093/hmg/1.6.417

10.1002/ajmg.1320010109

10.1002/ajmg.10093

Lehrke RG, 1968, Sex‐linked mental retardation and verbal disability. PhD dissertation, University of Wisconsin, Madison, WI

10.1002/(SICI)1096-8628(19971112)72:4<451::AID-AJMG15>3.0.CO;2-Q

10.1136/adc.57.5.381

Lurie IW, 1994, Phenotypic variability of del(2) (q22‐q23): report of a case with a review of the literature, Genet Couns, 5, 11

10.1016/S0022-3476(95)70294-6

Maraschio P, 1988, The cytogenetics of mammalian autosomal rearrangements, 615

Martin RA, 1999, Maternal uniparental disomy of chromosome 14 confined to an interstitial segment (14q23‐14q24.2), J Med Genet, 36, 633

Massey PS, 1995, State‐specific rates of mental retardation—United States, 1993, MMWR, 45, 61

McLaren J, 1987, Review of recent epidemiological studies of mental retardation: prevalence, associated disorders, and etiology, Am J Mental Retard, 92, 243

10.1086/303078

10.1016/S0022-3476(81)80535-5

10.1002/(SICI)1096-8628(19990212)82:4<294::AID-AJMG4>3.0.CO;2-U

Moser HW, 1971, The nosology of mental retardation: including the report of a survey of 1378 mentally retarded individuals at the Walter E, Fernald State School. Birth Defects Orig Artic Ser, 7, 117

Moser HW, 1990, Principles and practice of medical genetics, 495

10.1136/jmg.35.8.617

10.1002/1096-8628(20010722)102:1<1::AID-AJMG1336>3.0.CO;2-U

Opitz JM, 1978, Diagnostic/genetic studies in severe mental retardation, Birth Defects Orig Artic Ser, 15, 1

Opitz JM, 1982, Proceedings, International Conference on Preventable Aspects of Genetic Morbidity, 117

10.1016/S0014-5793(00)01994-3

10.1093/brain/97.1.355

10.1002/ajmg.1320590302

Penrose LS, 1938, A clinical and genetic study of 1280 cases of mental defect. Special Report Series, Medical Research Council, No. 229

Phelan MC, 1996, Mental retardation in South Carolina III: chromosome aberrations, Proc Greenwood Genet Ctr, 15, 45

10.1002/1096-8628(20010615)101:2<91::AID-AJMG1340>3.0.CO;2-C

10.1097/00004583-199003000-00004

Polednak AP, 1974, Postmortem neuropathology in a mentally retarded population, Lancet, 26, 1126

10.1136/jmg.35.11.939

10.1111/j.1399-0004.1982.tb01441.x

10.1002/(SICI)1096-8628(19990129)82:3<249::AID-AJMG10>3.0.CO;2-8

10.1111/j.1399-0004.1998.tb03773.x

10.1159/000472386

Root S, 1997, Brain dysmorphology and developmental disabilities, Proc Greenwood Genet Ctr, 16, 224

10.1136/jmg.38.6.417

10.1073/pnas.89.11.4913

10.1086/320595

10.1002/(SICI)1096-8628(19980401)76:4<327::AID-AJMG8>3.0.CO;2-M

10.1016/0009-8981(96)06379-6

Simeonsson RJ, 1992, Primary pediatric care, 867

Slavotinek A, 1999, Monosomy 1p36, J Med Genet, 36, 657

Sparrow SS, 1984, Vineland adaptive behavior scales

Srsen S, 1989, Chromosomal aberrations in a group of mentally retarded persons, Cesk Psychiatr, 85, 9

Stevenson R, 1996, Mental retardation. Overview and historical perspective, Proc Greenwood Genet Ctr, 15, 19

10.1055/s-2008-1071504

10.1097/00004583-199311000-00022

10.1002/ajmg.a.10176

10.1136/jmg.39.8.546

Villard L, 1999, Evaluation of a mutation screening strategy for sporadic cases of ATR‐X syndrome, J Med Genet, 36, 183

10.1212/WNL.55.8.1188

10.1038/86860

10.1002/(SICI)1096-8628(19961111)65:4<259::AID-AJMG2>3.0.CO;2-K

Warkany J, 1971, Congenital malformations

10.1136/jmg.38.4.224

10.1002/ajmg.1316

Wuu KD, 1984, A cytogenetic survey of mentally retarded children in Taiwan: final report on the incidence of chromosome abnormalities. Proceedings of the National Science Council, Republic of China—Part B, Life Sci, 8, 83

10.1007/BF01910545

10.1136/jmg.37.4.250

10.1002/ajmg.c.10016

10.1086/324343

10.1002/ajmg.10085

10.1002/ajmg.10226

Thông tin
Thông tin xuất bản

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

Tập 117C Số 1

3-14

Thông tin tác giả