Background: Two intervention approaches are implemented in South Africa to alleviate the deleterious consequences of congenital or early onset hearing impairment on language acquisition and subsequent poor learning outcomes. Aim: This study investigated the learning outcomes of foundation phase learners with severe to profound hearing impairment…

Past research shows that individuals with Williams syndrome (WS) have heightened and prolonged eye contact. Using parent report measures, we examined not only the presence of eye contact but also its qualitative features. Study 1 included individuals with WS (n = 22, ages 6.0-36.3). Study 2 included children with different neurodevelopmental (ND)…

Background: Increasing attention is paid to the effectiveness of high-intensity speech intervention in children with a cleft (lip and) palate (CP±L). It is, however, unknown if high-intensity intervention is acceptable to the intervention recipients. Parents have an integral role in supporting their children with intervention highlighting the…

The goal of this study was to describe the provision of intervention services to children with congenital Zika syndrome (CZS) in a large health care institution located in Recife, Brazil, and family factors related to intervention involvement, through the lens of family-centered developmental--behavioral pediatric care principles. Caregivers (N =…

Fragile X syndrome (FXS) is characterized by variable neurobehavioral abnormalities, which leads to difficulties in developing and evaluating treatments and in determining accurate prognosis. We employed a pediatric cross-sectional sample (1,072 males, 338 females) from FORWARD, a clinic-based natural history study, to identify behavioral subtypes…

Individuals with fragile X syndrome (FXS) and their parents have a range of experiences navigating the crucial transition period between adolescence and adulthood. Semi structured interviews of 47 mothers of adolescents with FXS (mean child age = 15.89 years) were analyzed to identify mothers' changing expectations during the adolescent period and…

Previous studies have suggested that girls with Turner syndrome (TS) exhibit symptoms of social anxiety during interactions with others. However, few studies have quantified these behaviors during naturalistic face-to-face social encounters. In this study, we coded observational markers of social anxiety in prepubertal girls with TS and…

According to current accounts of social cognition, the emergence of verbal and non-verbal components of social perception might rely on the acquisition of different cognitive abilities. These components might be differently sensitive to the pattern of neuropsychological impairments in congenital neurodevelopmental disorders. Here, we explored the…

Purpose: This study compared the inter- and intrarater reliability of the percentage of consonants correct (PCC) metrics and the probe scoring system between an experienced and a less experienced rater and between two experienced raters. In addition, these outcome measures' ability to reflect changes following speech intervention was measured.…

Background: The status of the velopharyngeal mechanism can be inferred from perceptual ratings of specified speech parameters. Several studies have proposed the measure of an overall velopharyngeal composite score based on these perceptual ratings and have reported good validity. The Cleft Audit Protocol for Speech--Augmented (CAPS-A) is a…

Individuals with autism spectrum disorder present with difficulties in social communication, restricted interests or behaviors and other co-morbidities. About 2 to 10% of cases of autism have a genetic cause, and Fragile X Syndrome (FXS) is reported in 0 to 6.5% of individuals with autism. However, the FXS and premutation prevalence among Filipino…

Purpose: Cleft lip and/or palate (CLP) is a common birth defect, and after reconstructive surgery, about 50% of children at 5 years of age have speech deviations and are referred to speech-language therapy (SLT). The peer-reviewed evidence for the benefit of SLT has been uncertain. Our objective was to systematically review and meta-analytically…

Thirty-three children treated for congenital hyperinsulinism (CHI) (13 boys; 13 with focal forms of CHI, median age 10 months) entered the study. The mothers were requested to fill-in the Ages and Stages Questionnaire to estimate communication, gross motor, fine motor, problem solving and personal-social skills. Children with focal forms had…

To describe and analyze the changes in anthropometric parameters in children with congenital Zika syndrome (CZS) from birth to four years of age. This prospective study evaluated 117 children diagnosed with CZS. Anthropometric indices evaluated annually were classified with respect to presence of microcephaly and adequacy of weight-for-age,…

Educational attainment is closely associated with health. The objective is to explore the extent to which children and adolescents with congenital heart disease (CHD) are afforded the same educational and socialization opportunities as their healthy peers. We used a qualitative phenomenological design with convenience sampling. Data gathered 27…