RESUMO
BACKGROUND: An extremely heterogeneous neuropsychological phenotype has been reported in Sotos Syndrome (SoS), including socio-communicative and behavioral difficulties referred to Autism Spectrum Disorder (ASD). Nonetheless, to date, only few data are available on the topic. AIM: To investigate ASD symptoms within a sample of children with SoS in comparison to a matched control group of individuals with idiopathic ASD. METHODS: A convenience sample of SoS (n = 33, age: 9.8 ± 4.1) and ASD (n = 33, age: 9.9 ± 4.1), was included. Autistic symptoms' assessment was performed through the administration of the Autism Diagnostic Observation Schedule-Second Edition- ADOS-2, the Social Responsiveness Scale -SRS and the Social Communication Questionnaire-SCQ. RESULTS: 72.7% of SoS children presented mild to moderate levels of ASD symptoms as measured by the ADOS-2. Oneway ANOVA analysis showed that SoS individuals presenting lower IQ demonstrated higher ASD symptom's level (p = 0.01). No statistically significant differences emerged between the SoS and ASD groups within the SRS total score domain (p = 0.95). CONCLUSIONS AND IMPLICATIONS: Our results support the evidence for an increased risk for ASD in SoS, suggesting that the ASD symptoms' assessment should be regularly performed in SoS children, with subsequent important implications in terms of therapeutic strategies and later outcome.
Assuntos
Transtorno do Espectro Autista , Transtorno Autístico , Síndrome de Sotos , Criança , Humanos , Pré-Escolar , Adolescente , Transtorno do Espectro Autista/diagnóstico , Transtorno do Espectro Autista/psicologia , Transtorno Autístico/diagnóstico , Estudos de Casos e Controles , Projetos de PesquisaRESUMO
Multiple Sclerosis (MS) is a chronic pathological condition representing one of the main causes of neurological disability in the female young population. MS, as an immune disorder, could impact fetus development, and, considering the need for and the possibility of pharmacological treatment during pregnancy, the possible influence of medication on developmental trajectories represents a topic of great interest. We provide an overview of the available literature on the influence of maternal Multiple Sclerosis on offspring cognitive and behavioral development. A study was conducted on Pubmed, Medline and Google Scholar, considering empirical studies and reviews exclusively in the English language. Maternal MS appears not to be associated with emotional and behavioral problems, as evaluated through retrospective studies. However, a specific cognitive and behavioral phenotype, through the administration of standardized instruments, has not been delineated yet. Available studies on the topic are characterized by poor methodology and do not lead to conclusions. This overview highlights implications for further longitudinal studies which should delineate offspring developmental trajectories, taking into consideration maternal confounding factors and the exposure to pharmacological treatment in pregnancy.
RESUMO
The latest research is attempting to define whether there may be an association between maternal Perinatal Depression (PD), the use of psychotropic medications during pregnancy, and a higher risk of neurodevelopmental disorders in children, including Autism Spectrum Disorder (ASD). A better understanding of the relation between PD and ASD is a key element to develop early interventions. This study has been developed in the context of the SOS MOOD project. Its aim is to evaluate the possible impact of maternal PD on the child's cognitive and behavioral phenotype with a focus on ASD. Women included in the project were screened during pregnancy (1st, 2nd trimester) for PD-categorized as affected or not-and if necessary were prescribed pharmacological therapy; offspring of both groups of women underwent at a mean age of 43 months a standardized neuropsychiatric evaluation of developmental and cognitive skills, behavioral problems, autism symptoms and parental stress. Preliminary results on 59 women and 59 children do not suggest significant long-term effects of maternal PD on offspring's development and behavior. Nonetheless further studies on wider samples are necessary in order to confirm such results and disentangle the role of possible confounding factors associated to the maternal illness.