Evaluation of genomic factors and early childhood stimulation on intelligence in children from a Brazilian birth cohort: The primary role of independent factors.

Background: Childhood cognitive abilities are a predictor of health outcomes and adult income potential. Identifying factors associated with childhood intelligence and their interactions is essential in behavioral research. We assessed the impact of genetic variants and early child stimulation (ECS) on child intelligence and examined their possible interaction as potential modifiers of IQ in a population-based longitudinal study.

The contribution of whole-exome sequencing to intellectual disability diagnosis and knowledge of underlying molecular mechanisms: A systematic review and meta-analysis.

Whole-exome sequencing (WES) is useful for molecular diagnosis, family genetic counseling, and prognosis of intellectual disability (ID). However, ID molecular diagnosis ascertainment based on WES is highly dependent on de novo mutations (DNMs) and variants of uncertain significance (VUS). The quantification of DNM frequency in ID molecular diagnosis ascertainment and the biological mechanisms common to genes with VUS may provide objective information about WES use in ID diagnosis and etiology.

Medical care in clinical genetics: an experience of decentralization in southern Brazil.

Objective: To describe the population assisted in a genetics outpatient clinic, in a medium-sized town, with respect to diagnosis, type of inheritance, and local impact of genetic care.

Methods: Medical records and genetic consultation forms from 2006 to 2018 were reviewed. The variables analyzed were age, sex, origin, current residence, reason for consultation, professional who requested evaluation, final diagnosis, additional exams and their results.

List of priority congenital anomalies for surveillance under the Brazilian Live Birth Information System.

Objective: To define the list of priority congenital anomalies for improving their recording on the Brazilian Live Birth Information System (Sinasc).

Methods: Based on the International Statistical Classification of Diseases and Related Health Problems, Tenth Revision (ICD-10), international protocols and meetings with specialists, the list of priority anomalies was built considering two main criteria: being diagnosable at birth and having intervention available at different levels. The list was submitted for consideration by the Brazilian Medical Genetics and Genomics Society.

The D-score: a metric for interpreting the early development of infants and toddlers across global settings.

Introduction: Early childhood development can be described by an underlying latent construct. Global comparisons of children's development are hindered by the lack of a validated metric that is comparable across cultures and contexts, especially for children under age 3 years. We constructed and validated a new metric, the Developmental Score (D-score), using existing data from 16 longitudinal studies.

Congenital anomalies in Rio Grande do Sul State: a time series analysis.

Introduction: In Rio Grande do Sul Sate (Brazil), the incidence of congenital anomalies ranges from 10 to 15/1,000 live births. Identifying risk factors can change congenital anomalies frequency and neonatal mortality. This paper intends to analyze temporal variation of congenital anomalies in the State of Rio Grande do Sul, from 2005 to 2014, and to identify the factors associated with its occurrence.

Prevalence and Severity of Sleep Disturbances among Patients with Early Breast Cancer.

Context: Data regarding health-related quality of life in breast cancer patients in the Middle East are limited with fatigue and sleep disturbance being the most distressing symptoms reported by patients treated for early breast cancer.

Aims: The aim of this study was to examine the prevalence and incidence of insomnia among patients with early-stage breast cancer patients treated with chemotherapy.

Subjects And Methods: This was a prospective cohort study.

Effect of childhood nutrition counselling on intelligence in adolescence: a 15-year follow-up of a cluster-randomised trial.

Objective: The present study aimed to assess the effects of an early childhood nutrition counselling intervention on intelligence (as measured by the intelligence quotient (IQ)) at age 15-16 years.

Design: A single-blind, cluster-randomised trial.

Setting: In 1998, in Southern Brazil, mothers of children aged 18 months or younger were enrolled in a nutrition counselling intervention (n 424).

Intellectual Disability in a Birth Cohort: Prevalence, Etiology, and Determinants at the Age of 4 Years.

Background: Intellectual disability (ID), characterized by impairments in intellectual function and adaptive behavior, affects 1-3% of the population. Many studies investigated its etiology, but few are cohort studies in middle-income countries.

Aims: To estimate prevalence, etiology, and factors related to ID among children prospectively followed since birth in a Southern Brazilian city (Pelotas).

Genetic causes of intellectual disability in a birth cohort: a population-based study.

Intellectual disability affects approximately 1-3% of the population and can be caused by genetic and environmental factors. Although many studies have investigated the etiology of intellectual disability in different populations, few studies have been performed in middle-income countries. The present study estimated the prevalence of genetic causes related to intellectual disability in a cohort of children from a city in south Brazil who were followed from birth.

Risk factors for suspected developmental delay at age 2 years in a Brazilian birth cohort.

Many children are at risk of not achieving their full potential for development. Epidemiological studies have the advantage of being able to identify a number of associated factors potentially amenable to intervention. Our purpose was to identify risk factors for suspected developmental delay (SDD) at age 2 years among all children born in the city of Pelotas, Brazil, in 2004.

Natural history of suspected developmental delay between 12 and 24 months of age in the 2004 Pelotas birth cohort.

Aims: To describe the incidence and persistence of suspected developmental delay (SDD) between 12 and 24 months of age and associated factors in the 2004 Pelotas Birth Cohort.

Methods: A cohort of 4262 newborns, 3907 of whose were monitored from 12 to 24 months of life. SDD was established by Battelle Screening Developmental Inventory.