Music teaching and the promotion of phonological awareness in 5- and 6-year-old children

UIDB/00693/2020 UIDP/00693/2020This paper discusses the relationship between music and language and presents evidence on how this connection can promote pre-reading skills. These skills are essential for students’ school success and reading acquisition. In the last decade, several researchers have investigated the relationship between music lessons and the development of language skills. It has been found that participation in music lessons in the preschool period is associated with increased phonological awareness in children with typical language development (Patscheke et al., 2016; Vidal et al., 2020). Some authors argue that music training can be used in interventions to overcome atypical language development (Pitt et al., 2017). Music perception has been pointed as a predictor of reading skills, particularly rhythm perception through beat synchronization (Bolduc, 2009) and rhythmic discrimination (Moritz et al., 2013). Furthermore, Hallam (2018) explored this topic with 11- and 12-year-old children and found that an intervention based on rhythmic activities can improve reading skills of low proficient readers. In this context, we examine Goswami's (2011) Temporal Sampling Theory, that argues that rhythmic abilities are especially correlated with the processing of speech. Finally, we analyze studies carried out with 5- and 6-year-old children in several countries (United States of America, Canada, Spain, and Germany). These studies’ methodologies are mostly experimental, with various configurations of intervention and control groups and different sample sizes. The research design is essentially longitudinal, with various time periods, always with intervention and pre-and post-testing of rhythmic and/or tonal abilities and phonological awareness. Moreover, nonverbal intelligence and socioeconomic background have been used as controlled variables in several studies. The results emerging from those investigations might contribute to establish new educational guidelines and new curricular paradigms. In this context, it would be important to establish a professional network with those who intervene with children with linguistic impairment and the music teachers. The preschool music teacher might become an important agent in signaling atypical linguistic developments, as well as a valuable partner in the elaboration of interdisciplinary programs for overcoming atypical linguistic developments. In Portugal, there is a lack of studies addressing the relationship between music lessons and the development of phonological awareness in preschool children. Thus, we hope that this review may contribute to the emergence of new research in this field of study.publishersversionpublishe

0 serviço educativo como dinâmica e processo de renovação de públicos em Ponta Delgada

Trabalho de projecto apresentado para o cumprimento dos requisitos necessários à obtenção do grau de mestre em Práticas Culturais para Município

Unraveling the genetic background of individuals with a clinical familial hypercholesterolemia phenotype

Familial hypercholesterolemia (FH) is a common genetic disorder of lipid metabolism caused by pathogenic/likely pathogenic variants in LDLR, APOB, and PCSK9 genes. Variants in FH-phenocopy genes (LDLRAP1, APOE, LIPA, ABCG5, and ABCG8), polygenic hypercholesterolemia, and hyperlipoprotein (a) [Lp(a)] can also mimic a clinical FH phenotype. We aim to present a new diagnostic tool to unravel the genetic background of clinical FH phenotype. Biochemical and genetic study was performed in 1,005 individuals with clinical diagnosis of FH, referred to the Portuguese FH Study. A next-generation sequencing panel, covering eight genes and eight SNPs to determine LDL-C polygenic risk score and LPA genetic score, was validated, and used in this study. FH was genetically confirmed in 417 index cases: 408 heterozygotes and 9 homozygotes. Cascade screening increased the identification to 1,000 FH individuals, including 11 homozygotes. FH-negative individuals (phenotype positive and genotype negative) have Lp(a) >50 mg/dl (30%), high polygenic risk score (16%), other monogenic lipid metabolism disorders (1%), and heterozygous pathogenic variants in FH-phenocopy genes (2%). Heterozygous variants of uncertain significance were identified in primary genes (12%) and phenocopy genes (7%). Overall, 42% of our cohort was genetically confirmed with FH. In the remaining individuals, other causes for high LDL-C were identified in 68%. Hyper-Lp(a) or polygenic hypercholesterolemia may be the cause of the clinical FH phenotype in almost half of FH-negative individuals. A small part has pathogenic variants in ABCG5/ABCG8 in heterozygosity that can cause hypercholesterolemia and should be further investigated. This extended next-generation sequencing panel identifies individuals with FH and FH-phenocopies, allowing to personalize each person’s treatment according to the affected pathway