Clinical genetic evaluation of the child with mental retardation or developmental delays

Pediatrics

Volumn 117, Issue 6, 2006, Pages 2304-2316

  Moeschler, John B ^f   Shevell, Michael ^e   Schaefer, G Bradley ^f   Bull, Marilyn J ^f   Enns, Gregory M ^f   Gruen, Jeffrey R ^f   Hersh, Joseph H ^f   Mendelsohn, Nancy J ^f   Saal, Howard M ^f   Goldberg, James D ^a   Hanson, James W ^b   Lloyd Puryear, Michele Ann ^c   Rasmussen, Sonja A ^d   Spire, Paul ^f  

^a AMERICAN COLLEGE OF OBSTETRICIANS AND GYNECOLOGISTS   (United States)

^b EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

^c HEALTH RESOURCES AND SERVICES ADMINISTRATION   (United States)

^d CENTERS FOR DISEASE CONTROL AND PREVENTION   (United States)

^e Child Neurology Society   (United States)

^f NONE

Author keywords

Central nervous system malformations; Chromosome; Developmental delay; Diagnostic evaluation; Dysmorphology; Fragile X; Inborn errors of metabolism; Medical genetics; Medical home; Mental retardation; Molecular genetics

Indexed keywords

ANAMNESIS; ARTICLE; CHILD DEVELOPMENT; CHROMOSOME ANALYSIS; CHROMOSOME REARRANGEMENT; COMPUTER ASSISTED TOMOGRAPHY; FAMILY COUNSELING; FLUORESCENCE IN SITU HYBRIDIZATION; FRAGILE X SYNDROME; GENETIC ANALYSIS; HUMAN; IMAGING; MENTAL DEFICIENCY; METABOLIC DISORDER; MOLECULAR GENETICS; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PEDIATRICIAN; PRIORITY JOURNAL; CHILD; DECISION TREE; DEVELOPMENTAL DISORDER; DIAGNOSTIC PROCEDURE; GENETICS; REVIEW;

CHILD; DECISION TREES; DEVELOPMENTAL DISABILITIES; HUMANS; MENTAL RETARDATION; MOLECULAR DIAGNOSTIC TECHNIQUES;

EID: 33745314874     PISSN: 00314005     EISSN: 02105721     Source Type: Journal    
DOI: 10.1542/peds.2006-1006     Document Type: Article

References (79)

1. American Academy of Pediatrics, Committee on Children With Disabilities. Developmental surveillance and screening in infants and young children. Pediatrics. 2001;108:192-196
2. Shevell M, Ashwal S, Donley D, et al. Practice parameter: evaluation of the child with global developmental delay - report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. Neurology. 2003;60:367-380
3. Curry CJ, Stevenson RE, Aughton D, et al. Evaluation of mental retardation: recommendations of a consensus conference - American College of Medical Genetics. Am J Med Genet. 1997;72:468-477
4. van Karnebeek CD, Jansweijer MC, Leenders AG, Offringa M, Hennekam RC. Diagnostic investigations in individuals with mental retardation: a systematic literature review of their usefulness. Eur J Hum Genet. 2005;13:6-25
5. van Karnebeek CDM, Scheper FY, Abeling NG, et al. Aetiology of mental retardation or borderline cognitive delay in 281 children referred to a tertiary care center: a prospective study. In: van Karnebeek CDM, ed. Mental Retardation: Diagnostic Studies on Aetiology [doctoral thesis]. Amsterdam, Netherlands: Department of Pediatrics/Emma Children's Hospital and Department of Clinical Genetics, Academic Medical Centre, University of Amsterdam; 2002:75-108
6. Accardo P, Capute A. Mental retardation. In: McMillan JA, DeAngelis CD, Feigin RD, et al, eds. Principles and Practice of Pediatrics. Philadelphia, PA: Lippincott; 1995:673-679
7. Majnemer A, Shevell MI. Diagnostic yield of the neurologic assessment of the developmentally delayed child. J Pediatr. 1995;127:193-199
8. Schroeder S, Gerry M, Gertz G, Velasquez F. Final Project Report: Usage of the Term "Mental Retardation": Language, Image and Public Education. Lawrence, KS: University of Kansas; 2001:1-216
9. American Association on Mental Retardation. Mental Retardation: Definition, Classification, and Systems of Supports. 10th ed. Washington, DC: American Association on Mental Retardation; 2002
10. McLaren J, Bryson SE. Review of recent epidemiological studies of mental retardation: prevalence, associated disorders, and etiology. Am J Ment Retard. 1987;92:243-254
11. Stevenson RE, Massey PS, Schroer RJ, McDermott S, Richter B. Preventable fraction of mental retardation: analysis based on individuals with severe mental retardation. Ment Retard. 1996;34:182-188
12. Centers for Disease Control and Prevention. State-specific rates of mental retardation: United States 1993. MMWR Morb Mortal Wkly Rep. 1996;45:61-65
13. Simeonsson RJ, Sharp MC. Developmental delays. In: Hoekelman RA, Friedman SB, Nelson NM, et al, eds. Primary Pediatric Care. St Louis, MO: Mosby-Year Book; 1992:867-870
14. Blackman JA. Developmental screening: infants, toddlers and preschoolers. In: Developmental-Behavioral Pediatrics. 2nd ed. Philadelphia, PA: WB Saunders; 1992:617-623
15. American Academy of Pediatrics, Medical Home Initiatives for Children With Special Needs Project Advisory Committee. The medical home. Pediatrics. 2004;113:1545-1547
16. Bundey S, Webb TP, Thake A, Todd J. A community study of severe mental retardation in the West Midlands and the importance of the fragile X chromosome in its aetiology. J Med Genet. 1985;22:258-266
17. Hennekam RC. Abnormal mental development. In: Tindall B, ed. Bailliere's Clinical Pediatrics. London, England: Bailliere Tindal; 1998:317-322
18. Hunter AG. Outcome of the routine assessment of patients with mental retardation in a genetics clinic. Am J Med Genet. 2000;90:60-68
19. Schaefer GB, Bodensteiner JB. Evaluation of the child with idiopathic mental retardation. Pediatr Clin North Am. 1992;39:929-943
20. Teen LN, Bawle EV, Majkowski M, Thomas RL. Evaluating children with developmental delay: quality and cost of diagnostic work-ups [abstract 36]. Presented at: the Annual Meeting of the American College of Medical Genetics; March 7, 2004; Orlando, FL
21. Shevell MI. The evaluation of the child with a global developmental delay. Semin Pediatr Neurol. 1998;5:21-26
22. Shevell MI, Majnemer A, Rosenbaum P, Abrahamowicz M. Etiologic yield of subspecialists' evaluation of young children with global developmental delay. J Pediatr. 2000;136:593-598
23. Rosenbaum PL. Prevention of psychosocial problems in children with chronic illness. CMAJ. 1988;139:293-295
24. Yeargin-Allsopp M, Boyle C. Overview: the epidemiology of neurodevelopmental disorders. Ment Retard Dev Disabil Res Rev. 2002;8:113-116
25. Cassel EJ. The nature of suffering and the goals of medicine. N Engl J Med. 1982;306:639-645
26. Aase JM. Diagnostic Dysmorphology. 3rd ed. New York, NY: Plenum Medical Book Co; 1990:32-34
27. Marden PM, Smith DW, McDonald MJ. Congenital anomalies in the newborn infant, including minor variations: a study of 4412 babies by surface examination for anomalies and buccal smear for sex chromatin. J Pediatr. 1964;64:357-371
28. Opitz JM. Invited editorial comment: study of minor anomalies in childhood malignancy. Eur J Pediatr. 1985;144:252-254
29. Smith DW, Bostian KE. Congenital anomalies associated with idiopathic mental retardation. J Pediatr. 1964;65:189-196
30. Battaglia A, Carey JC. Diagnostic evaluation of developmental delay/mental retardation: an overview. Am J Med Genet C Semin Med Genet. 2003;117:3-14
31. van Karnebeek CD, Koevoets C, Sluijter S, et al. Prospective screening for subtelomeric rearrangements in children with mental retardation of unknown aetiology: the Amsterdam experience. J Med Genet. 2002;39:546-553
32. McDonald A. Severely retarded children in Quebec: prevalence, causes, and care. Am J Ment Defic. 1973;78:205-215
33. Hagberg B, Hagberg G, Lewerth A, Lindberg U. Mild mental retardation in Swedish school children. II. Etiologic and pathogenetic aspects. Acta Paediatr Scand. 1981;70:445-452
34. Stromme P. Aetiology in severe and mild mental retardation: a population-based study of Norwegian children. Dev Med Child Neurol. 2000;42:76-86
35. Schreppers-Tijdink GA, Curfs LM, Wiegers A, Kleczkowska A, Fryns JP. A systematic cytogenetic study of a population of 1170 mentally retarded and/or behaviourally disturbed patients including fragile X-screening. The Hondsberg experience. J Genet Hum. 1988;36:425-446
36. Graham SM, Selikowitz M. Chromosome testing in children with developmental delay in whom the aetiology is not evident clinically. J Paediatr Child Health. 1993;29:360-362
37. Bacino CA, Kashork CD, Davino NA, Shaffer LG. Detection of a cryptic translocation in a family with mental retardation using FISH and telomere region-specific probes. Am J Med Genet. 2000;92:250-255
38. Flint J, Wilkie AO, Buckle VJ, Winter RM, Holland AJ, McDermid HE. The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation. Nat Genet. 1995;9:132-140
39. Joyce CA, Dennis NR, Cooper S, Browne CE. Subtelomeric rearrangements: results from a study of selected and unselected probands with idiopathic mental retardation and control individuals by using high-resolution G-banding and FISH. Hum Genet. 2001;109:440-451
40. Knight SJ, Flint J. Perfect endings: a review of subtelomeric probes and their use in clinical diagnosis. J Med Genet. 2000;37:401-409
41. Knight SJ, Regan R, Nicod A, et al. Subtle chromosomal rearrangements in children with unexplained mental retardation. Lancet. 1999;354:1676-1681
42. Riegel M, Baumer A, Jamar M, et al. Submicroscopic terminal deletions and duplications in retarded patients with unclassified malformation syndromes. Hum Genet. 2001;109:286-294
43. Rosenberg MJ, Killoran C, Dziadzio L, et al. Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformations. Hum Genet. 2001;109:311-318
44. Slavotinek A, Rosenberg M, Knight S, et al. Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosome telomeres. J Med Genet. 1999;36:405-411
45. Biesecker LG. The end of the beginning of chromosome ends. Am J Med Genet. 2002;107:263-266
46. de Vries BB, White SM, Knight SJ, et al. Clinical studies on submicroscopic subtelomeric rearrangements: a checklist. J Med Genet. 2001;38:145-150
47. Albertson DG, Pinkel D. Genomic microarrays in human genetic disease and cancer. Hum Mol Genet. 2003;12(spec No. 2):R145-R152
48. de Vries BB, van den Ouweland AM, Mohkamsing S, et al. Screening and diagnosis for the fragile X syndrome among the mentally retarded: an epidemiological and psychological survey. Collaborative Fragile X Study Group. Am J Hum Genet. 1997;61:660-667
49. de Vries BB, Mohkamsing S, van den Ouweland AM, et al. Screening for the fragile X syndrome among the mentally retarded: a clinical study. The Collaborative Fragile X Study Group. J Med Genet. 1999;36:467-470
50. Arvio M, Peippo M, Simola KO. Applicability of a checklist for clinical screening of the fragile X syndrome. Clin Genet. 1997;52:211-215
51. Turner G, Robinson H, Laing S, et al. Population screening for fragile X. Lancet. 1992;339:1210-1213
52. Giangreco CA, Steele MW, Aston CE, Cummins JH, Wenger SL. A simplified six-item checklist for screening for fragile X syndrome in the pediatric population. J Pediatr. 1996;129:611-614
53. Mila M, Sanchez A, Badenas C, et al. Screening for FMR1 and FMR2 mutations in 222 individuals from Spanish special schools: identification of a case of FRAXE-associated mental retardation. Hum Genet. 1997;100:503-507
54. Hagerman RJ, Amiri K, Cronister A. Fragile X checklist. Am J Med Genet. 1991;38:283-287
55. Maddalena A, Richard CS, McGinniss MJ, et al. Technical standards and guidelines for fragile X: the first of a series of disease-specific supplements to the Standards and Guidelines for the Clinical Genetics Laboratories of the American College of Medical Genetics. Quality Assurance Subcommittee of the Laboratory Practice Committee. Genet Med. 2001;3:200-205
56. Jiang Y-H, Lev-Lehman E, Bressler J, Tsai TF, Beaudet AL. Genetics of Angelman syndrome. Am J Hum Genet. 1999;65:1-6
57. Zoghbi HY. Postnatal neurodevelopmental disorders: meeting at the synapse? Science. 2003;302:826-830
58. Couvert P, Bienvenu T, Aquaviva C, et al. MECP2 is highly mutated in X-linked mental retardation. Hum Mol Genet. 2001;10:941-946
59. Laumonnier F, Bonnet-Brilhout F, Gomot M, et al. X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family. Am J Med Genet. 2004;74:552-557
60. Schaefer GB, Bodensteiner JB. Radiological findings in developmental delay. Semin Pediatr Neurol. 1998;36:33-38
61. Moeschler JB, Bennett FC, Cromwell LD. Use of the CT scan in the medical evaluation of the mentally retarded child. J Pediatr. 1981;98:63-65
62. Lingam S, Read S, Holland IM, Wilson J, Brett EM, Hoare RD. Value of computerised tomography in children with non-specific mental subnormality. Arch Dis Child. 1982;57:381-383
63. Gabrielli O, Salvolini U, Coppa GV, et al. Magnetic resonance imaging in the malformative syndromes with mental retardation. Pediatr Radiol. 1990;21:16-19
64. Demaerel P, Kingsley DP, Kendall BE. Isolated neurodevelopmental delay in childhood: clinicoradiological correlation in 170 patients. Pediatr Radiol. 1993;23:29-33
65. Kjos BO, Umansky R, Barkovich AJ. Brain MR imaging in children with developmental retardation of unknown cause: results in 76 cases. AJNR Am J Neuroradiol. 1990;11:1035-1040
66. Bouhadiba Z, Dacher J, Monroc M, Vanhulle C, Menard JF, Kalifa G. MRI of the brain in the evaluation of children with developmental delay [in French]. J Radiol. 2000;81:870-873
67. Harbord MG, Finn JP, Hall-Craggs MA, Robb SA, Kendall BE, Boyd SG. Myelination patterns on magnetic resonance of children with developmental delay. Dev Med Child Neurol. 1990;32:295-303
68. Papavasiliou AS, Bazigou H, Paraskevoulakos E, Kotsalis C. Neurometabolic testing in developmental delay. J Child Neurol. 2000;15:620-622
69. Roschinger W, Olgemoller B, Fingerhut R, Liebl B, Roscher AA. Advances in analytical mass spectrometry to improve screening for inherited metabolic diseases. Eur J Pediatr. 2003;162(suppl 1):S67-S76
70. Filiano JJ, Bellimer SG, Kunz PL. Tandem mass spectrometry and newborn screening: pilot data and review. Pediatr Neurol. 2002;26:201-204
71. Clayton PT. Applications of mass spectrometry in the study of inborn errors of metabolism. J Inherit Metab Dis. 2001;24:139-150
72. Riegel M, Castellan C, Balmer D, Brecevic L, Schinzel A. Terminal deletion, del(1)(p36.3) detected through screening for terminal deletions in patients with unclassified malformation syndromes. Am J Med Genet. 1999;82:249-253
73. Slavotinek A, Shaffer LG, Shapira SK. Monosomy 1p36. J Med Genet. 1999;36:657-663
74. Faivre L, Morichon N, Viot G, et al. Prenatal diagnosis of a chromosome 1p36 deletion. Eur J Hum Genet. 1998;6(suppl 1):99
75. de Vries BB, Knight SJ, Homfray T, Smithson SF, Flint J, Winter RM. Submicroscopic subtelomere 1qter deletions: a recognizable phenotype? J Med Genet. 2001;38:175-178
76. Precht KS, Lese CM, Spiro RP, et al. Two 22q telomere deletions serendipitously detected by FISH. J Med Genet. 1998;35:939-942
77. Doheny KF, McDermid HE, Harum K, Thomas GH, Raymond GV. Cryptic terminal rearrangement of chromosome 22q13.32 detected by FISH in two unrelated patients. J Med Genet. 1997;34:640-644
78. de Vries BB, Bitner-Glindzicz M, Knight SJ, et al. A boy with a submicroscopic 22qter deletion, general overgrowth and features suggestive of FG syndrome. Clin Genet. 2000;58:483-487
79. Phelan MC, Rogers RC, Saul RA, et al. 22q12 deletion syndrome. Am J Med Genet. 2001;101:91-99