{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,10]],"date-time":"2026-01-10T22:54:02Z","timestamp":1768085642391,"version":"3.49.0"},"reference-count":48,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2006,1,17]],"date-time":"2006-01-17T00:00:00Z","timestamp":1137456000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt C"],"published-print":{"date-parts":[[2006,2,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Studies addressing etiologic yield in childhood developmental disabilities have mainly looked at individuals with developmental delay\/mental retardation. The few studies addressing the question of etiologic yield in patients with pervasive developmental disorders (PDDs) had a major drawback, in that the enrolled subjects were diagnosed as having the autistic spectrum disorders based only on history and clinical examination, and\/or on unspecified instruments. In addition, only some of these patients underwent a complete laboratory evaluation. To investigate the etiologic yield of PDDs, we undertook a large prospective study on subjects selected according to very strict criteria and diagnosed as having PDD based on the present \u201cgold standard\u201d (ADI\u2010R and ADOS\u2010G), and a clinical diagnosis made by a child psychiatrist. Eighty\u2010five (85) patients with PDD and their first degree relatives participated in this study. These patients were selected from a sample of 236 subjects who had received a clinical diagnosis of PDD at the Stella Maris Institute between March 2002 and 2005. Selection criteria for entering the study were: (1) a diagnosis of PDD (with exclusion of the Rett syndrome) confirmed after the administration of the ADI\u2010R (autism diagnostic interview\u2010revised) and the ADOS\u2010G (autism diagnostic observation schedule\u2010generic). In addition, a clinical diagnosis was made by the child psychiatrist, on the basis of presence or absence of DSM\u2010IV symptoms of autism; (2) chronological age between 4 and 18 years; (3) IQ&gt;30; (4) availability of both biologic parents. Patients, 65\/85 (76.5%), had autism, 18\/85 (21.2%) had PDD\u2010NOS, and the remaining 2\/85 (2.3%) had Asperger syndrome. Ages varied between 4 years 2 months and 12 years 5 months (mean 7.6 years), and there was a marked male preponderance (68\/85). All subjects underwent various laboratory studies and neuroimaging. With respect to possible etiologic determination, a detailed history and physical examination in this group of patients with PDD was informative in 10.5% (9\/85). HRB karyotype was diagnostic in one, and molecular fragile X studies in one child. Brain MRI was informative in two children (2.3%) with relative macrocrania but no neurological features; and EEG was helpful in one child, identifying a Landau\u2013Kleffner disorder. Audiometry and brainstem auditory evoked potentials (BAEPs) showed a bilateral sensorineural loss in another child. Metabolic evaluation gave normal results in all subjects. The results suggest an evaluation paradigm with reference to etiologic determination for individuals with PDDs that does not presently justify metabolic or neuroimaging on a screening basis. Recurrence risk, treatment implications, and significant and long\u2010lasting emotional relief for the parents suggest that serious consideration be given to clinical genetic examination, genetic testing, EEG study (during wakefulness and sleep), and audiometry, despite a relatively low yield. \u00a9 2006 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.c.30076","type":"journal-article","created":{"date-parts":[[2006,1,18]],"date-time":"2006-01-18T00:17:12Z","timestamp":1137543432000},"page":"3-7","source":"Crossref","is-referenced-by-count":35,"title":["Etiologic yield of autistic spectrum disorders: A prospective study"],"prefix":"10.1002","volume":"142C","author":[{"given":"Agatino","family":"Battaglia","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John C.","family":"Carey","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2006,1,17]]},"reference":[{"key":"e_1_2_6_2_1","first-page":"67","volume-title":"Diagnostic and statistical manual of mental disorders","author":"American Psychiatric Association","year":"1995"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1086\/342720"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30076"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.10015"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990101)82:1<60::AID-AJMG12>3.0.CO;2-4"},{"key":"e_1_2_6_7_1","doi-asserted-by":"crossref","first-page":"744","DOI":"10.1542\/peds.95.5.744","article-title":"Specification of the neurobehavioral phenotype in males with fragile X syndrome","volume":"95","author":"Baumgardner TL","year":"1995","journal-title":"Pediatrics"},{"key":"e_1_2_6_8_1","first-page":"231","volume-title":"Les syndromes epileptiques de l'enfant et de l'adolescent","author":"Beaumanoir A","year":"1992"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1176\/jnp.7.3.361"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0887-8994(00)00244-7"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1097\/00004703-199810000-00001"},{"key":"e_1_2_6_12_1","first-page":"252","article-title":"Behavioral profiles of autistic and nonautistic fragile X males","volume":"8","author":"Cohen AL","year":"1995","journal-title":"Dev Brain Dysfunct"},{"key":"e_1_2_6_13_1","first-page":"928","article-title":"Autism or atypical autism in maternally but not paternally derived proximal 15 duplication","volume":"60","author":"Cook EH","year":"1997","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19971112)72:4<468::AID-AJMG18>3.0.CO;2-P"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1017\/S0033291799008508"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1026004505764"},{"key":"e_1_2_6_17_1","first-page":"330","volume-title":"The biology of the autistic syndromes","author":"Gillberg C","year":"2000"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.52.8.1694"},{"key":"e_1_2_6_19_1","doi-asserted-by":"crossref","first-page":"3","DOI":"10.56021\/9780801868436","volume-title":"Fragile X syndrome. 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