Aetiology of severe mental retardation and further genetic analysis by high-resolution microarray in a population-based series of 6- to 17-year-old children

Acta Paediatrica, International Journal of Paediatrics

Volumn 101, Issue 1, 2012, Pages 85-91

  Lundvall, Mikael ^a   Rajaei, Saideh ^b   Erlandson, Anna ^b   Kyllerman, Mårten ^c  

^a HALMSTAD HOSPITAL   (Sweden)

^b UNIVERSITY OF GOTHENBURG   (Sweden)

^c QUEEN SILVIA CHILDREN'S HOSPITAL   (Sweden)

Author keywords

Aetiology; Clinical genetic studies; CNV; Severe mental retardation

Indexed keywords

ADOLESCENT; ARTICLE; CHILD; COMORBIDITY; DISEASE ASSOCIATION; DISEASE SEVERITY; DNA MICROARRAY; FEMALE; GENETIC ANALYSIS; HIGH RESOLUTION MICROARRAY; HUMAN; MAJOR CLINICAL STUDY; MALE; MENTAL DEFICIENCY; NEUROLOGIC DISEASE; PATHOGENESIS; PEDIATRIC HOSPITAL; PERINATAL PERIOD; POPULATION RESEARCH; PRENATAL DIAGNOSIS; PRESCHOOL CHILD; PREVALENCE; PRIORITY JOURNAL; SCHOOL CHILD; SEVERE MENTAL RETARDATION; SINGLE NUCLEOTIDE POLYMORPHISM; SWEDEN;

ADOLESCENT; CHILD; COHORT STUDIES; COMORBIDITY; FEMALE; HUMANS; INTELLECTUAL DISABILITY; MALE; MICROARRAY ANALYSIS; POLYMORPHISM, SINGLE NUCLEOTIDE; PREVALENCE; SEVERITY OF ILLNESS INDEX; SEX DISTRIBUTION; SWEDEN;

EID: 82955235178     PISSN: 08035253     EISSN: 16512227     Source Type: Journal    
DOI: 10.1111/j.1651-2227.2011.02417.x     Document Type: Article

References (30)

1. Fernell E,. Aetiological factors and prevalence of severe mental retardation in children in a Swedish municipality: the possible role of consanguinity. Dev Med Child Neurol 1998; 40: 608-11. (Pubitemid 28416778)
2. Gustavson KH, Hagberg B, Hagberg G, Sars K,. Severe mental retardation in a Swedish county. II. Etiologic and pathogenetic aspects of children born 1959-1970. Neuropadiatrie 1977; 8: 293-304. (Pubitemid 8174210)
3. Gustavson KH, Hagberg B, Hagberg G, Sars K,. Severe mental retardation in a Swedish county. I. Epidemiology, gestational age, birth weight and associated CNS handicaps in children born 1959-70. Acta Paediatr Scand 1977; 66: 373-9. (Pubitemid 8085693)
4. Gustavson KH, Holmgren G, Jonsell R, Son Blomquist HK,. Severe mental retardation in children in a northern Swedish county. J Ment Defic Res 1977; 21: 161-80. (Pubitemid 8188721)
5. Hagberg B, Kyllerman M,. Epidemiology of mental retardation-a Swedish survey. Brain Dev 1983; 5: 441-9. (Pubitemid 14216645)
6. Stromme P,. Aetiology in severe and mild mental retardation: a population-based study of Norwegian children. Dev Med Child Neurol 2000; 42: 76-86. (Pubitemid 30083899)
7. Matilainen R, Airaksinen E, Mononen T, Launiala K, Kääriä inen R,. A population-based study on the causes of mild and severe mental retardation. Acta Paediatr 1995; 84: 261-6.
8. Pakkanen M, Lindblom B, Olausson PO, Rosén M,. Great regional differences in quality of obstetrical care. Lakartidningen 2004; 101: 3320-2.
9. Blomquist HK, Gustavson KH, Holmgren G,. Mild mental retardation in children in a northern Swedish county. J Ment Defic Res 1981; 25: 169-86. (Pubitemid 13045689)
10. Wellesley D, Hockey A, Stanley F,. The aetiology of intellectual disability in Western Australia: a community-based study. Dev Med Child Neurol 1991; 33: 963-73.
11. Giarelli E, Wiggins LD, Rice CE, Levy SE, Kirby RS, Pinto-Martin J, et al., Sex differences in the evaluation and diagnosis of autism spectrum disorders among children. Disabil Health J 2010; 3: 107-16.
12. Freitag CM,. The genetics of autistic disorders and its clinical relevance: a review of the literature. Mol Psychiatry 2007; 12: 2-22. (Pubitemid 44973659)
13. Shen Y, Dies KA, Holm IA, Bridgemohan C, Sobeih MM, Caronna EB, et al., Clinical genetic testing for patients with autism spectrum disorders. Pediatrics 2010; 125: e727-35.
14. Neul JL, Kaufmann WE, Glaze DG, Christodoulou J, Clarke AJ, Bahi-Buisson N, et al., Rett syndrome: revised diagnostic criteria and nomenclature. Ann Neurol 2010; 68: 944-50.
15. Steffenburg S, Gillberg CL, Steffenburg U, Kyllerman M,. Autism in Angelman syndrome: a population-based study. Pediatr Neurol 1996; 14: 131-6. (Pubitemid 26104417)
16. Cardoso C, Boys A, Parrini E, Mignon-Ravix C, McMahon JM, Khantane S, et al., Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion. Neurology 2009; 72: 784-92.
17. Engels H, Wohlleber E, Zink A, Hoyer J, Ludwig KU, Brockschmidt FF, et al., A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients. Eur J Hum Genet 2009; 17: 1592-9.
18. Yatsenko SA, Kruer MC, Bader PI, Corzo D, Schuette J, Keegan CE, et al., Identification of critical regions for clinical features of distal 10q deletion syndrome. Clin Genet 2009; 76: 54-62.
19. Courtens W, Wuyts W, Rooms L, Pera SB, Wauters J,. A subterminal deletion of the long arm of chromosome 10: a clinical report and review. Am J Med Genet A 2006; 140: 402-9. (Pubitemid 43227658)
20. Irving M, Hanson H, Turnpenny P, Brewer C, Ogilvie CM, Davies A, et al., Deletion of the distal long arm of chromosome 10; is there a characteristic phenotype? A report of 15 de novo and familial cases Am J Med Genet A 2003; 123A: 153-63. (Pubitemid 37429597)
21. Oskarsdottir S, Belfrage M, Sandstedt E, Viggedal G, Uvebrant P,. Disabilities and cognition in children and adolescents with 22q11 deletion syndrome. Dev Med Child Neurol 2005; 47: 177-84. (Pubitemid 40277823)
22. McDonald-McGinn DM, Tonnesen MK, Laufer-Cahana A, Finucane B, Driscoll DA, Emanuel BS, et al., Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: cast a wide FISHing net!. Genet Med 2001; 3: 23-9.
23. Rosenberg C, Knijnenburg J, Bakker E, Vianna-Morgante AM, Sloos W, Otto PA, et al., Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parents. J Med Genet 2006; 43: 180-6. (Pubitemid 43259635)
24. Thuresson AC, Bondeson ML, Edeby C, Ellis P, Langford C, Dumanski JP, et al., Whole-genome array-CGH for detection of submicroscopic chromosomal imbalances in children with mental retardation. Cytogenet Genome Res 2007; 118: 1-7. (Pubitemid 47492005)
25. Tyson C, Harvard C, Locker R, Friedman JM, Langlois S, Lewis ME, et al., Submicroscopic deletions and duplications in individuals with intellectual disability detected by array-CGH. Am J Med Genet A 2005; 139: 173-85. (Pubitemid 41740587)
26. Manning M, Hudgins L,. Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities. Genet Med 2010; 12: 742-5.
27. Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, et al., Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet 2010; 86: 749-64.
28. Schoumans J, Ruivenkamp C, Holmberg E, Kyllerman M, Anderlid BM, Nordenskjöld M,. Detection of chromosomal imbalances in children with idiopathic mental retardation by array based comparative genomic hybridisation (array-CGH). J Med Genet 2005; 42: 699-705. (Pubitemid 41306060)
29. Wincent J, Anderlid B-M, Lagerberg M, Nordenskjold M, Schoumans J,. High-resolution molecular karyotyping in patients with developmental delay and/or multiple congenital anomalies in a clinical setting. Clin Genet 2011; 79: 147-57.
30. Vissers LE, de Vries BB, Veltman JA,. Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis. J Med Genet 2010; 47: 289-97.