Epidemiology of autism spectrum disorder in Portugal: prevalence, clinical characterization, and medical conditions.
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.
Oliveira
Guiomar
G
Centro de Desenvolvimento da Criança, Hospital Pediátrico de Coimbra, Coimbra, Portugal. guiomar@hpc.chc.min-saude.pt
Ataíde
Assunção
A
Marques
Carla
C
Miguel
Teresa S
TS
Coutinho
Ana Margarida
AM
Mota-Vieira
Luísa
L
Gonçalves
Esmeralda
E
Lopes
Nazaré Mendes
NM
Rodrigues
Vitor
V
Carmona da Mota
Henrique
H
Vicente
Astrid Moura
AM
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
D051860:Fragile X Messenger Ribonucleoprotein 1; C497683:FMR1 protein, human