{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,16]],"date-time":"2026-02-16T09:05:23Z","timestamp":1771232723965,"version":"3.50.1"},"reference-count":26,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2014,5,9]],"date-time":"2014-05-09T00:00:00Z","timestamp":1399593600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Children"],"abstract":"<jats:p>Autism is an etiologically heterogeneous developmental disorder for which the range of genetic investigations has expanded considerably over the past decade. Introduction of chromosomal microarray (CMA) to clinical practice has expanded the range of conditions which pediatricians are able to detect. This study reviewed the utilization, yield and cost of genetic investigations in a sample of children with pervasive developmental disorders (PDD) in an Australian metropolitan child development service. Six hundred and ninety eight patients with PDD were identified from the clinic population. One hundred and ten (15.7%) of the clinic population had undergone investigation with chromosomal microarray, 140 (20.0%) with karyotype (KT), and 167 (23.9%) with Fragile X testing (FRGX). Twelve (10.9%) CMA findings were reported, of which seven (6.3%) were felt to be the likely cause of the child\u2019s clinical features. Five (3.5%) KT findings were reported, of which four (2.9%) were felt to be the likely cause of the child\u2019s clinical features. Two patients (1.2%) were identified with Fragile X expansions. One fifth of the clinic\u2019s recent PDD population had undergone testing with CMA. CMA appears to have increased the diagnostic yield of the genetic investigation of autism, in line with internationally reported levels. Number needed to test (NNT) and cost per incremental diagnosis, were also in line with internationally reported levels.<\/jats:p>","DOI":"10.3390\/children1010021","type":"journal-article","created":{"date-parts":[[2014,5,12]],"date-time":"2014-05-12T02:21:53Z","timestamp":1399861313000},"page":"21-30","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Uptake and Diagnostic Yield of Chromosomal Microarray in  an Australian Child Development Clinic"],"prefix":"10.3390","volume":"1","author":[{"given":"Dylan","family":"Mordaunt","sequence":"first","affiliation":[{"name":"Mater Children's Hospital, Raymond Terrace, South Brisbane, QLD 4101, Australia"},{"name":"SA Pathology at the Women's and Children's Hospital, 72 King William Road, North Adelaide, SA 5006, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael","family":"Gabbett","sequence":"additional","affiliation":[{"name":"Genetic Health Queensland, Back Street, off Bramston Terrace, Herston, QLD 4029, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Melanie","family":"Waugh","sequence":"additional","affiliation":[{"name":"Mater Children's Hospital, Raymond Terrace, South Brisbane, QLD 4101, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karen","family":"O'Brien","sequence":"additional","affiliation":[{"name":"Mater Children's Hospital, Raymond Terrace, South Brisbane, QLD 4101, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Helen","family":"Heussler","sequence":"additional","affiliation":[{"name":"Mater Children's Hospital, Raymond Terrace, South Brisbane, QLD 4101, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2014,5,9]]},"reference":[{"key":"ref_1","unstructured":"Australian Government Department of Health and Ageing (2012). Medicare Benefits Schedule Book."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1016\/j.ejmg.2009.02.008","article-title":"Microduplication 22q11.2: A new chromosomal syndrome","volume":"52","author":"Portnoi","year":"2009","journal-title":"Eur. J. Med. Genet."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1097\/GIM.0b013e31816b5cc9","article-title":"Clinical genetics evaluation in identifying the etiology of autism spectrum disorders","volume":"10","author":"Schaefer","year":"2008","journal-title":"Genet. Med."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"749","DOI":"10.1016\/j.ajhg.2010.04.006","article-title":"Consensus statement: Chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies","volume":"86","author":"Miller","year":"2010","journal-title":"Am. J. Human Genet."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"542","DOI":"10.1166\/jbn.2009.1058","article-title":"Polyacrylamide gel-based microarray: A novel method applied to the association study between the polymorphisms of BDNF gene and autism","volume":"5","author":"Cheng","year":"2009","journal-title":"J. Biomed. Nanotechnol."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1177\/0883073807308698","article-title":"Autism and metabolic diseases","volume":"23","author":"Manzi","year":"2008","journal-title":"J. Child Neurol."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1097\/WCO.0b013e3282f82c2d","article-title":"Medical genetics diagnostic evaluation of the child with global developmental delay or intellectual disability","volume":"21","author":"Moeschler","year":"2008","journal-title":"Curr. Opin. Neurol."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"492","DOI":"10.1046\/j.1440-1754.2003.00201.x","article-title":"Investigating intellectual disability: A genetic perspective","volume":"39","author":"Poplawski","year":"2003","journal-title":"J. Paediatr. Child Health"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1097\/GIM.0b013e31815efdd7","article-title":"Genetics evaluation for the etiologic diagnosis of autism spectrum disorders","volume":"10","author":"Schaefer","year":"2008","journal-title":"Genet. Med."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1023\/A:1012217807469","article-title":"Birth order effects on nonverbal IQ scores in autism multiplex families","volume":"31","author":"Spiker","year":"2001","journal-title":"J. Autism Dev. Disord."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1258\/0969141041732175","article-title":"Number needed to screen: Lives saved over 20 years of follow-up in mammographic screening","volume":"11","author":"Tabar","year":"2004","journal-title":"J. Med. Screen."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"834","DOI":"10.1177\/0009922811406261","article-title":"Diagnostic yield of genetic testing in children diagnosed with autism spectrum disorders at a regional referral center","volume":"50","author":"Roesser","year":"2011","journal-title":"Clin. Pediatr."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1111\/j.1469-8749.2010.03826.x","article-title":"A \u201cglobal\u201d approach to global developmental delay and intellectual disability?","volume":"53","author":"Shevell","year":"2011","journal-title":"Dev. Med. Child Neurol."},{"key":"ref_14","doi-asserted-by":"crossref","unstructured":"Miller, D.T., Shen, Y., and Wu, B.L. (2012). Oligonucleotide microarrays for clinical diagnosis of copy number variation and zygosity status. Curr. Protoc. Human Genet., Chapter 8, Unit8 12.","DOI":"10.1002\/0471142905.hg0812s74"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"e66254","DOI":"10.1371\/journal.pone.0066254","article-title":"IL1RAPL1 associated with mental retardation and autism regulates the formation and stabilization of glutamatergic synapses of cortical neurons through rhoa signaling pathway","volume":"8","author":"Hayashi","year":"2013","journal-title":"PLoS One"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1016\/j.ejmg.2011.08.004","article-title":"IL1RAPL1 gene deletion as a cause of X-linked intellectual disability and dysmorphic features","volume":"55","author":"Youngs","year":"2012","journal-title":"Eur. J. Med. Genet."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"614","DOI":"10.1038\/sj.ejhg.5202006","article-title":"Familial deletion within NLGN4 associated with autism and Tourette syndrome","volume":"16","author":"Saldivar","year":"2008","journal-title":"Eur. J. Human Genet. (EJHG)"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"1037","DOI":"10.1038\/ng.422","article-title":"Foxc1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation","volume":"41","author":"Aldinger","year":"2009","journal-title":"Nat. Genet."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"368","DOI":"10.1016\/S0002-9394(02)02061-5","article-title":"A family with Axenfeld-Rieger syndrome and peters anomaly caused by a point mutation (Phe112Ser) in the FOXC1 gene","volume":"135","author":"Honkanen","year":"2003","journal-title":"Am. J. Ophthalmol."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"517","DOI":"10.1007\/s00439-011-0970-4","article-title":"Microdeletion\/microduplication of proximal 15q11.2 between BP1 and BP2: A susceptibility region for neurological dysfunction including developmental and language delay","volume":"130","author":"Burnside","year":"2011","journal-title":"Human Genet."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"R176","DOI":"10.1093\/hmg\/ddq366","article-title":"Phenotypic variability and genetic susceptibility to genomic disorders","volume":"19","author":"Girirajan","year":"2010","journal-title":"Human Mol. Genet."},{"key":"ref_22","doi-asserted-by":"crossref","unstructured":"Harvard, C., Strong, E., Mercier, E., Colnaghi, R., Alcantara, D., Chow, E., Martell, S., Tyson, C., Hrynchak, M., and McGillivray, B. (2011). Understanding the impact of 1q21.1 copy number variant. Orphanet J. Rare Dis., 6.","DOI":"10.1186\/1750-1172-6-54"},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"1109","DOI":"10.1002\/ajmg.a.33833","article-title":"Deletion of the immunoglobulin domain of IL1RAPL1 results in nonsyndromic X-linked intellectual disability associated with behavioral problems and mild dysmorphism","volume":"155A","author":"Franek","year":"2011","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"540","DOI":"10.1111\/j.1440-1754.2012.02479.x","article-title":"Public services for children with special needs: Discrimination by diagnosis","volume":"48","author":"Badawi","year":"2012","journal-title":"J. Paediatr. Child Health"},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"294","DOI":"10.1097\/GIM.0b013e31816b5cae","article-title":"Acmg recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007","volume":"10","author":"Richards","year":"2008","journal-title":"Genet. Med."},{"key":"ref_26","unstructured":"Galen Medical Pty. Ltd (2011). Mymbs App (Android OS), Galen Medical Pty. Ltd."}],"container-title":["Children"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2227-9067\/1\/1\/21\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T21:11:15Z","timestamp":1760217075000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2227-9067\/1\/1\/21"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,5,9]]},"references-count":26,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2014,6]]}},"alternative-id":["children1010021"],"URL":"https:\/\/doi.org\/10.3390\/children1010021","relation":{},"ISSN":["2227-9067"],"issn-type":[{"value":"2227-9067","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,5,9]]}}}