Browsing by Author "Rodrigues, A.C."
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- Differential diagnosis of Autism Spectrum Disorder (ASD) by CNV detection – can early diagnosis be improved?Publication . Kwiatkowska, K.; Conceição, I.C.; Rodrigues, A.C.; Picanço, I.; Marques, I.; Melo, J.; Ferreira, S.; Café, C.; Almeida, J.; Mouga, S.; Oliveira, G.; Vicente, A.M.Autism Spectum Disorder (ASD) is an impairment in neurodevelopment that can be recognized in the first years of life. Symptoms are diverse and vary in severity, determining prognosis and influencing the integration in the community. ASD is characterized by difficulties in interpersonal interaction, verbal and nonverbal communication, and by uncommon interests, inappropriate and uncontrolled behaviors, and repetitive activities. Specific and early diagnosis allows early and effective intervention that improves learning, communication and social skills of autistic children.
- Expression Profile of Circulating miRNAs in Autism Spectrum DisordersPublication . Rodrigues, A.C.; Conceição, I.C.; Kwiatkowska, K.; Picanço, I.; Café, C.; Almeida, J.; Mouga, S.; Enguita, F.J.; Oliveira, G.; Vicente, A.M.Autism Spectrum Disorder (ASD) is a common disorder with an heterogeneous clinical presentation and unclear etiology. Rare, highly penetrant, variants explain approximately 20% of ASD genetic liability, while common genetic factors of low effect, which combine in affected individuals to reach a pathological threshold, have not yet been identified. Epigenetic factors may additionally modulate the effect of genetic variants. ASD overlaps with other Neurodevelopmental Disorders (NDD), both in clinical aspects and in causative genetic variants, frequently rendering specific diagnosis difficult1,5. Here we hypothesize that, while genetic variants overlap in a large extent between NDDs, epigenetic factors may regulate the expression, activity or function of genetic factors, leading to the characteristic phenotypic presentation that differentiates ASD from other NDDs. To test this hypothesis, we addressed the role of epigenetic factors in ASD, focusing on microRNAs (miRNAs). These small noncoding RNA molecules negatively regulate gene expression, influencing many biological processes and, because they are released from pathological tissues to plasma in disease situations, may constitute useful biomarkers. We thus profiled miRNAs in plasma from ASD patients and patients with other NDDs.
- Expression Profile of Circulating miRNAs in Autism Spectrum Disorders Population samplePublication . Conceição, I.C.; Rodrigues, A.C.; Kwiatkowska, K.; Picanço, I.; Café, C.; Almeida, J.; Mouga, S.; Enguita, F.J.; Oliveira, G.; Vicente, A.M.Autism Spectrum Disorder (ASD) is a common complex disorder, highly heterogeneous and with unclear etiology. While many different rare variants are known to be etiological factors for ASD, they don’t completely explain the genetic variance in this disorder, and common genetic variants could not, thus far, be identified. The possible contribution of epigenetic factors, such as deregulated miRNAs expression, should be addressed. miRNAs are small noncoding RNA molecules that negatively regulate gene expression via degradation or translational repression of their target messenger RNAs. miRNAs play critical roles in several biological processes, and are associated with human pathology. Recent studies have suggested that miRNAs in plasma and serum might be derived from circulating blood cells under healthy conditions, but might be released from pathological tissues during illness. The strong correlation between circulating and tissue miRNAs indicates that circulating miRNAs might be biomarkers for diseases, including central nervous system disorders. We are currently assessing miRNA profiles in plasma from ASD patients and patients with other neurodevelopmental disabilities (eg. psychomotor developmental delay, intellectual disability, etc).