e u r o p e a n j o u r n a l o f p a e d i a t r i c n e u r o l o g y 1 9 ( 2 0 1 5 ) 3 8 6 e3 8 7
Official Journal of the European Paediatric Neurology Society
Letter to the Editor
High prevalence of pathologic copy number variants detected by chromosomal microarray in Swiss-Italian children with autism spectrum disorders Dear Sir, We read with great interest the article of Battaglia et al. on chromosomal microarray studies among patients affected by autism spectrum disorders.1 These authors found pathologic copy number variants in 18 out of 78 (23%) patients with autism spectrum disorders.1 We would like to report our experience. Between January 2010 and December 2012, we used the Autism Diagnostic Observation ScheduleeGeneric2 to make the diagnosis of autism spectrum disorder in 21 children without dysmorphic features and normal brain magnetic resonance imaging, thyroid function tests and celiac disease serology. They were 3 female and 18 male subjects, ranging in age from 14 to 51, median 36 months. The patients underwent chromosomal microarray testing, according to our standard procedure.3 Pathological copy number variants were found in six (29%) of them (Table 1).
Table 1 e Pathologic copy number variants detected by chromosomal microarray testing in 6 male patients affected by autism spectrum disorder. Patient
Age at diagnosis (months)
1
24
2
30
3
24
4
36
5
14
6
36
Syndrome
Inheritance
6q26 microdeletion Not verified (PARK2 gene (parents not microdeletion) analyzed) 15q11.2 Maternally microduplication inherited 8q24.3 Maternal microduplication translocation between chromosome 4 and 8 15q11.2q13.1 Maternally inherited microduplication 2q37.3q37.3 Not verified (parents not microdeletion analyzed) 6q27 microdeletion De novo
In conclusion, our experience confirms the results of Battaglia et al.1 and suggests that, like in children with idiopathic intellectual disability,3e5 chromosomal microarray is a tremendously useful diagnostic tool in children presenting with autism spectrum disorders.
Declaration of conflicting interests The authors declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.
Funding and financial disclosure The authors received no financial support for the research, authorship or publication of this article.
references
1. Battaglia A, Doccini V, Bernardini L, Novelli A, Loddo S, Capalbo A, Filippi T, Carey JC. Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features. Eur J Paediatr Neurol 2013;17:589e99. 2. Lord C, Risi S, Lambrecht L, Cook Jr EH, Leventhal BL, DiLavore PC, Pickles A, Rutter M. The autism diagnostic observation schedule-generic: a standard measure of social and communication deficits associated with the spectrum of autism. J Autism Dev Disord 2000;30:205e23. 3. Capobianco S, Lava SA, Bianchetti MG, Martinet D, Belfiore M, Ramelli GP, Ferrarini A. Chromosomal microarray among children with intellectual disability: a useful diagnostic tool for the clinical geneticist. Dev Med Child Neurol 2014;56:290. € lu G, Volkan-Salancı B, C¸etinkaya A, Kiper PO, 4. Utine GE, Halilog lu K, Alanay Y, Aktas‚ D, Anlar B, Topc¸u M, Bodurog lu M. Etiological yield of SNP microarrays in Alikas‚ifog
e u r o p e a n j o u r n a l o f p a e d i a t r i c n e u r o l o g y 1 9 ( 2 0 1 5 ) 3 8 6 e3 8 7
idiopathic intellectual disability. Eur J Paediatr Neurol 2014;18: 327e37. M, Martı´nez F, Monfort S, Mayo S, Oltra S, Orellana C. 5. Rosello Phenotype profiling of patients with intellectual disability and copy number variations. Eur J Paediatr Neurol 2014;18: 558e66.
Giorgia Pellanda Pediatric Department of Southern Switzerland, San Giovanni Hospital, 6500 Bellinzona, Switzerland Sebastiano A.G. Lava Pediatric Department of Southern Switzerland, San Giovanni Hospital, 6500 Bellinzona, Switzerland University Children's Hospital, Inselspital, 3010 Bern, Switzerland University of Bern, 3010 Bern, Switzerland
387
Alessandra Ferrarini Gian Paolo Ramelli* Pediatric Department of Southern Switzerland, San Giovanni Hospital, 6500 Bellinzona, Switzerland *Corresponding author. Tel.: þ41 91 811 91 95; fax: þ41 91 811 87 87. E-mail address: [email protected] (G.P. Ramelli) 1090-3798/ © 2015 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved. http://dx.doi.org/10.1016/j.ejpn.2015.01.009
Official Journal of the European Paediatric Neurology Society
Letter to the Editor
High prevalence of pathologic copy number variants detected by chromosomal microarray in Swiss-Italian children with autism spectrum disorders Dear Sir, We read with great interest the article of Battaglia et al. on chromosomal microarray studies among patients affected by autism spectrum disorders.1 These authors found pathologic copy number variants in 18 out of 78 (23%) patients with autism spectrum disorders.1 We would like to report our experience. Between January 2010 and December 2012, we used the Autism Diagnostic Observation ScheduleeGeneric2 to make the diagnosis of autism spectrum disorder in 21 children without dysmorphic features and normal brain magnetic resonance imaging, thyroid function tests and celiac disease serology. They were 3 female and 18 male subjects, ranging in age from 14 to 51, median 36 months. The patients underwent chromosomal microarray testing, according to our standard procedure.3 Pathological copy number variants were found in six (29%) of them (Table 1).
Table 1 e Pathologic copy number variants detected by chromosomal microarray testing in 6 male patients affected by autism spectrum disorder. Patient
Age at diagnosis (months)
1
24
2
30
3
24
4
36
5
14
6
36
Syndrome
Inheritance
6q26 microdeletion Not verified (PARK2 gene (parents not microdeletion) analyzed) 15q11.2 Maternally microduplication inherited 8q24.3 Maternal microduplication translocation between chromosome 4 and 8 15q11.2q13.1 Maternally inherited microduplication 2q37.3q37.3 Not verified (parents not microdeletion analyzed) 6q27 microdeletion De novo
In conclusion, our experience confirms the results of Battaglia et al.1 and suggests that, like in children with idiopathic intellectual disability,3e5 chromosomal microarray is a tremendously useful diagnostic tool in children presenting with autism spectrum disorders.
Declaration of conflicting interests The authors declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.
Funding and financial disclosure The authors received no financial support for the research, authorship or publication of this article.
references
1. Battaglia A, Doccini V, Bernardini L, Novelli A, Loddo S, Capalbo A, Filippi T, Carey JC. Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features. Eur J Paediatr Neurol 2013;17:589e99. 2. Lord C, Risi S, Lambrecht L, Cook Jr EH, Leventhal BL, DiLavore PC, Pickles A, Rutter M. The autism diagnostic observation schedule-generic: a standard measure of social and communication deficits associated with the spectrum of autism. J Autism Dev Disord 2000;30:205e23. 3. Capobianco S, Lava SA, Bianchetti MG, Martinet D, Belfiore M, Ramelli GP, Ferrarini A. Chromosomal microarray among children with intellectual disability: a useful diagnostic tool for the clinical geneticist. Dev Med Child Neurol 2014;56:290. € lu G, Volkan-Salancı B, C¸etinkaya A, Kiper PO, 4. Utine GE, Halilog lu K, Alanay Y, Aktas‚ D, Anlar B, Topc¸u M, Bodurog lu M. Etiological yield of SNP microarrays in Alikas‚ifog
e u r o p e a n j o u r n a l o f p a e d i a t r i c n e u r o l o g y 1 9 ( 2 0 1 5 ) 3 8 6 e3 8 7
idiopathic intellectual disability. Eur J Paediatr Neurol 2014;18: 327e37. M, Martı´nez F, Monfort S, Mayo S, Oltra S, Orellana C. 5. Rosello Phenotype profiling of patients with intellectual disability and copy number variations. Eur J Paediatr Neurol 2014;18: 558e66.
Giorgia Pellanda Pediatric Department of Southern Switzerland, San Giovanni Hospital, 6500 Bellinzona, Switzerland Sebastiano A.G. Lava Pediatric Department of Southern Switzerland, San Giovanni Hospital, 6500 Bellinzona, Switzerland University Children's Hospital, Inselspital, 3010 Bern, Switzerland University of Bern, 3010 Bern, Switzerland
387
Alessandra Ferrarini Gian Paolo Ramelli* Pediatric Department of Southern Switzerland, San Giovanni Hospital, 6500 Bellinzona, Switzerland *Corresponding author. Tel.: þ41 91 811 91 95; fax: þ41 91 811 87 87. E-mail address: [email protected] (G.P. Ramelli) 1090-3798/ © 2015 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved. http://dx.doi.org/10.1016/j.ejpn.2015.01.009
