Motor, linguistic, personal and social aspects of children with Down syndrome

AbstractA global developmental delay is expected from Down syndrome, affecting motor, cognitive, linguistic and personal-social skills. However, not always these delays are proportional; different conditions occur due to several intrinsic and extrinsic variables that must be controlled to form groups of greater homogeneity.Objective To enhance personal-social, fine motor-adaptive, gross motor and linguistic skills among children with Down syndrome and compare them with typically developing children, matched for gender, socioeconomic status and mental age, while controlling some variables that interfere with the global development.Methods The ethical aspects were fulfilled (Case No. 040/2009). The following inclusion criteria were considered: participants without a history of prematurity, very low birth weight, congenital hypothyroidism, significant hearing and vision problems, and signs of Autism Spectrum Disorder. After the inclusion criteria were considered, 40 children participated in the study, of which 20 had Down syndrome (experimental group - EG), these being of both genders and with chronological ages ranging from 38 to 63 months, and the other 20 being typically developing children (control group - CG), matching the EG in terms of gender, socioeconomic status and mental age, with this age ranging from 13 to 50 months. The evaluation consisted in applying the Denver Developmental Screening Test II, a test that assesses areas such as personal-social, fine motor-adaptive, linguistic and gross motor development. The results were subjected to statistical analysis using Student’s t-test.Results A statistically significant difference was verified between the groups for the language and fine motor-adaptive areas.Conclusion Children with Down syndrome showed lower performance in language and fine motor skills when compared with typically developing children. There was no statistically significant difference in gross motor and personal-social areas. It is worth mentioning the importance of controlling the variables to deal with more homogeneous groups

Habilidades comunicativas e lexicais de crianças com Síndrome de Down: reflexões para inclusão escolar

Resumo: OBJETIVO: verificar o desempenho comunicativo e lexical expressivo de crianças com Síndrome de Down e refletir sobre como a compreensão de fatores interferentes no processo de aprendizagem pode contribuir para uma melhor adaptação dessas crianças no ambiente escolar. MÉTODOS: a amostra proposta foi de 60 crianças, porém, após análise dos critérios de inclusão, participaram 20 crianças, 10 com Síndrome de Down e 10 com neurodesenvolvimento típico, de idade entre 36 a 62 meses, pareadas quanto ao gênero, idade cronológica e nível socioeconômico. Procedimentos: entrevista com familiares, Observação do Comportamento Comunicativo e Teste de Linguagem Infantil ABFW-Vocabulário Parte B. A análise dos dados foi realizada por meio de estatística descritiva e aplicação do Teste "t" Student (p≤ 0,05). RESULTADOS: indicaram diferença estatisticamente significante para produção de palavras e frases, narrativa, tempo de atenção, designação verbal usual e não designação. Para processos de substituição a análise estatística não acusou diferença estatisticamente significante. Apenas para profissões e locais, nesta categoria, houve diferença estatisticamente significante entre os grupos. Como são avaliados nove campos conceituais, este dado não interferiu na análise estatística da somatória dos valores de todos os campos. CONCLUSÃO: o desempenho comunicativo e lexical expressivo de crianças com Síndrome de Down é inferior quando comparado com crianças com neurodesenvolvimento típico. A escola tem importante papel em proporcionar um ambiente estimulador, por meio de práticas pedagógicas adequadas às necessidades de aprendizagem destas crianças

Polymorphisms and haplotypes of TOLLIP and MUC5B are associated with susceptibility and survival in patients with fibrotic hypersensitivity pneumonitis

Introduction and Objectives: Hypersensitivity pneumonitis (HP) is an interstitial lung disease with diverse clinical features that can present a fibrotic phenotype similar to idiopathic pulmonary fibrosis (IPF) in genetically predisposed individuals. While several single nucleotide polymorphisms (SNPs) have been associated with IPF, the genetic factors contributing to fibrotic HP (fHP) remain poorly understood. This study investigated the association of MUC5B and TOLLIP variants with susceptibility, clinical presentation and survival in Portuguese patients with fHP. Material and Methods: A case-control study was undertaken with 97 fHP patients and 112 controls. Six SNPs residing in the MUC5B and TOLLIP genes and their haplotypes were analyzed. Associations with risk, survival, and clinical, radiographic, and pathological features of fHP were probed through comparisons among patients and controls. Results: MUC5B rs35705950 and three neighboring TOLLIP variants (rs3750920, rs111521887, and rs5743894) were associated with increased susceptibility to fHP. Minor allele frequencies were greater among fHP patients than in controls (40.7% vs 12.1%, P<0.0001; 52.6% vs 40.2%, P = 0.011; 22.7% vs 13.4%, P = 0.013; and 23.2% vs 12.9%, P = 0.006, respectively). Haplotypes formed by these variants were also linked to fHP susceptibility. Moreover, carriers of a specific haplotype (G-T-G-C) had a significant decrease in survival (adjusted hazard ratio 6.92, 95% CI 1.73–27.64, P = 0.006). Additional associations were found between TOLLIP rs111521887 and rs5743894 variants and decreased lung function at baseline, and the MUC5B SNP and radiographic features, further highlighting the influence of genetic factors in fHP. Conclusion: These findings suggest that TOLLIP and MUC5B variants and haplotypes may serve as valuable tools for risk assessment and prognosis in fibrotic hypersensitivity pneumonitis, potentially contributing to its patient stratification, and offer insights into the genetic factors influencing the clinical course of the condition. © 2024 Sociedade Portuguesa de PneumologiaFunding text 1: We are indebted to Instituto de Saúde Pública da Universidade do Porto (ISPUP) for providing samples from the EPIPorto cohort to be used as controls; we thank the cohort management and all participants. We are grateful to Catarina Teixeira Antunes and Joana Filipa Amorim Reis for assistance in the genotyping.; Funding text 2: This work was supported by the Portuguese Society of Pulmonology (SPP) (SPP/Bolsa Novartis 2012 grant); Boehringer-Ingelheim (Unrestricted Research Grant); Fundação para a Ciência e a Tecnologia, I.P. (PTDC/MEC-RES/0158/2020 grant); and Fundação Amélia de Mello and D. José de Mello. ; Funding text 3: JCR is funded by Fundação para a Ciência e a Tecnologia through the Stimulus for Scientific Employment Individual Support (2020.01350.CEECIND)