Risk of autism spectrum disorder in children with infantile epileptic spasms syndrome: a retrospective study in a single center in Brazil

Abstract Objective This study aimed to investigate the prevalence of autism spectrum disorder and its possible correlations with clinical characteristics in patients with infantile epileptic spasms syndrome in a single center in Brazil. Methods This retrospective cross-sectional study examined 53 children with the diagnosis of infantile epileptic spasms syndrome prior to an autism spectrum disorder assessment. Participants were divided into two groups based on the presence or absence of autism spectrum disorder. Available variables (sex, medications, median age at onset of infantile epileptic spasms syndrome, and presence of comorbidities) were compared using Mann-Whitney U or chi-square tests. Results Among the included patients, 12 (23 %) were diagnosed with autism spectrum disorder, corresponding to a relative risk of 0.29 (95 % confidence interval 0.174-0.492). The age at the first seizure ranged from 3 to 15 months, with a mean of 6.65 months. This age significantly differed between participants with autism spectrum disorder (10.58 months) and those without (5.43 months), p<0.001. Conclusion Children with infantile epileptic spasms syndrome have a higher risk of being diagnosed with autism spectrum disorder. Later age of onset and period of spasm occurrence might be predisposing risk factors.

Características perinatais de crianças com transtorno do espectro autista / Perinatal features of children with autism spectrum disorder

RESUMO Objetivo: Analisar características perinatais de crianças com transtorno do espectro autista (TEA). Métodos: Revisão retrospectiva dos prontuários medicos de 75 crianças com TEA, entre janeiro de 2008 e janeiro de 2015. Os critérios de inclusão foram o diagnóstico de TEA baseado no DSM-5 e o termo de consentimento assinado pelo responsável legal. O critério de exclusão foi ausência de todos os dados no prontuário médico. As variáveis analisadas foram: idade materna, prematuridade (idade gestacional menor que 37 semanas), baixo peso ao nascer (<2.500 g) e asfixia perinatal (Apgar menor que 7 no quinto minuto). Os dados foram avaliados por meio do teste de diferença entre as proporções (nível de significância de p<0,05). Resultados: Setenta e cinco pacientes foram incluídos no estudo. A idade materna variou de 21,4 a 38,6 anos (29,8±4,1 anos). O parto prematuro ocorreu em 14 (18,7%) pacientes, asfixia perinatal em 6 (8,0%) e baixo peso ao nascer em 32 (42,6%). As prevalências de prematuridade, asfixia perinatal e baixo peso ao nascer entre as crianças com TEA neste estudo foram maiores do que as prevalências gerais dessas condições entre todos os nascidos vivos em nosso país, região e estado, as quais são, respectivamente, 11,5, 2,3 e 8,5% no Brasil, 11,0; 2,2 e 8,5% na região Sul e 10,5, 2,0 e 8,4% no estado do Paraná. Conclusões: Nossos achados mostraram maior prevalência de prematuridade, baixo peso ao nascer e asfixia perinatal em crianças com TEA. Algumas limitações são o desenho retrospectivo do estudo e a amostra de pequeno tamanho. Grandes estudos prospectivos são necessários para esclarecer a possível associação entre intercorrências perinatais e TEA.

ABSTRACT Objective: To analyze perinatal features of children with autism spectrum disorder (ASD). Methods: Retrospective review of the medical records of 75 children with ASD, between January 2008 and January 2015. Inclusion criteria were diagnosis of ASD based on DSM-5 criteria, and the informed consent form signed by the person who is legally responsible. The exclusion criterion was missing on the medical record. The variables analyzed were maternal age, prematurity (gestational age under 37 weeks), low birth weight (<2,500 g), and perinatal asphyxia (5th minute Apgar score <7). Data were analyzed using the difference between proportions test, being significant p<0.05. Results: Seventy-five patients were included. Maternal age ranged from 21.4 to 38.6 years (29.8±4.1 years). Premature birth occurred in 14 (18.7%) patients, perinatal asphyxia in 6 (8.0%), and low birth weight in 32 (42.6%) patients. The prevalence of prematurity, low birth weight, and perinatal asphyxia among the children in our study was higher than the general prevalence of these conditions among all live births in our country, region, and state, which are, respectively, 11.5, 2.3, and 8.5% in Brazil; 11.0, 2.2, and 8.5% in Southern Brazil; and 10.5, 2.0, and 8.4% in the state of Paraná. Conclusions: Our findings show a higher prevalence of prematurity, low birth weight, and perinatal asphyxia among children with ASD. Some limitations are the retrospective study design, and the small sample size. Large prospective studies are needed to clarify the possible association between perinatal complications and ASD.