title: Epidemiology of autism spectrum disorder in Portugal: prevalence, clinical characterization, and medical conditions.
abstract: The objective of this study was to estimate the prevalence of autistic spectrum disorder (ASD) and identify its clinical characterization, and medical conditions in a paediatric population in Portugal. A school survey was conducted in elementary schools, targeting 332,808 school-aged children in the mainland and 10,910 in the Azores islands. Referred children were directly assessed using the Diagnostic and Statistical Manual of Mental Disorders (4th edn), the Autism Diagnostic Interview-Revised, and the Childhood Autism Rating Scale. Clinical history and a laboratory investigation was performed. In parallel, a systematic multi-source search of children known to have autism was carried out in a restricted region. The global prevalence of ASD per 10,000 was 9.2 in mainland, and 15.6 in the Azores, with intriguing regional differences. A diversity of associated medical conditions was documented in 20%, with an unexpectedly high rate of mitochondrial respiratory chain disorders.
authors: Centro de Desenvolvimento da Criança, Hospital Pediátrico de Coimbra, Coimbra, Portugal. guiomar@hpc.chc.min-saude.pt
authors: Guiomar
authors: G
authors: Oliveira
authors: Assunção
authors: A
authors: Ataíde
authors: Carla
authors: C
authors: Marques
authors: Teresa S
authors: TS
authors: Miguel
authors: Ana Margarida
authors: AM
authors: Coutinho
authors: Luísa
authors: L
authors: Mota-Vieira
authors: Esmeralda
authors: E
authors: Gonçalves
authors: Nazaré Mendes
authors: NM
authors: Lopes
authors: Vitor
authors: V
authors: Rodrigues
authors: Henrique
authors: H
authors: Carmona da Mota
authors: Astrid Moura
authors: AM
authors: Vicente
mesh_terms: D001321:Autistic Disorder / Q000453:epidemiology* / Q000235:genetics; D002648:Child; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics; D005260:Female; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics; D017353:Gene Deletion; D006801:Humans; D017403:In Situ Hybridization; D007621:Karyotyping; D008297:Male; D008403:Mass Screening; D028361:Mitochondrial Diseases / Q000453:epidemiology / Q000503:physiopathology; D017354:Point Mutation / Q000235:genetics; D011174:Portugal / Q000453:epidemiology; D015995:Prevalence; D012720:Severity of Illness Index; D012959:Socioeconomic Factors; D011795:Surveys and Questionnaires
chemical_list: D051860:Fragile X Messenger Ribonucleoprotein 1; C497683:FMR1 protein, human