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Background: Infants with Rett syndrome (RTT) may have subtle anomalies in their prelinguistic vocalisations but the detection of these is difficult, since their conspicuous vocalisations are often interspersed with inconspicuous ones.
Aims And Methods: Extending a previous study with predominantly non-parents, the present study sampled parents of children with RTT and aimed to examine their gestalt perception of prelinguistic vocalisations.
Methods And Procedure: Parents (n = 76) of female children with RTT listened to vocalisation recordings from RTT and typically developing (TD) infants, including an inconspicuous vocalisation from a RTT girl. For each recording, parents indicated if the vocalisation was produced by a RTT or a TD child.
Results: Overall correct to incorrect identification rate was 2:1, which was comparable to that of the previous study. Intriguingly, parents of RTT children seemed to be sensitive to features characterising the vocalisations of RTT infants, which has especially influenced their perception of the inconspicuous vocalisation from a RTT girl.
Conclusions And Implications: These results invite further research on the potential characterising differences between vocalisations from TD infants and infants with divergent neurodevelopment.
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http://dx.doi.org/10.1016/j.ridd.2023.104515 | DOI Listing |
Int Dent J
September 2025
Department of Periodontology, Peking University School and Hospital of Stomatology, National Center of Stomatology, National Clinical Research Center for Oral Diseases, National Engineering Research Center of Oral Biomaterials and Digital Medical Devices, Beijing Key Laboratory of Digital Stomatolog
Introduction And Aims: Free gingival grafting (FGG) is a common procedure in periodontal and implant therapy to augment keratinized tissue and improve esthetic outcomes. However, the effects of graft dimensions and residual tissue thickness (RTT) on palatal donor site healing remain poorly characterized, lacking standardized 3-dimensional analysis. This study aimed to quantify how these factors influence 3-dimensional tissue recovery over 6 months, with thickness recovery rate as the primary outcome.
View Article and Find Full Text PDFOrphanet J Rare Dis
September 2025
Unit of Child Neuropsychiatry, IRCCS Istituto Giannina Gaslini, Epicare Network for Rare Disease, Genoa, Italy.
Background: Rett Syndrome (RTT) is a rare, and severe neurodevelopmental disorder that primarily affects females and is primarily (> 96%) due to pathogenic loss-of-function genetic variants of methyl-CpG-binding protein 2 (MECP2). Despite the rarity of the syndrome, sporadic twin cases have been reported. The descriptions have often focused on the phenotype, emphasizing differences or similarities.
View Article and Find Full Text PDFBMC Med Res Methodol
September 2025
Department of Statistics, University of Pretoria, Pretoria, South Africa.
Background: Joint modeling is widely used in medical research to properly analyze longitudinal biomarkers and survival outcomes simultaneously and to guide appropriate interventions in public health. However, such models become increasingly complex and computationally intensive when accounting for multiple features of these outcomes. The need for computationally efficient methods in joint modeling of competing risks survival outcomes and longitudinal biomarkers is particularly critical in clinical and epidemiological settings, where prompt decision-making is essential.
View Article and Find Full Text PDFJCEM Case Rep
October 2025
Department of Pediatrics, Rhode Island Hospital/Hasbro Children's, Brown University Health, The Warren Alpert Medical School of Brown University, Providence, RI 02903, USA.
Individuals with Noonan syndrome (NS) are predisposed to hematologic cancers, solid tumors, and low-grade gliomas. We report an 8-year-old girl originally referred at age 14 months for short stature, developmental delay, and failure to thrive who was subsequently found to have pathogenetic variants both in and Family history included a maternal half-sister with NS and a mother carrying the mutation. Familial single-gene testing showed a heterozygous pathogenic variant in (c.
View Article and Find Full Text PDFTech Innov Patient Support Radiat Oncol
September 2025
Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Introduction: Prospective studies on reirradiation are limited, with most available data being retrospective, resulting in challenges in standardising protocols, interpreting outcomes, and facilitating informed patient decisions. Advanced radiotherapy planning and delivery have increased treatment possibilities for complex cases, including reirradiation. However, considerable gaps and variability in reirradiation image-guided radiotherapy (IGRT) and treatment delivery exist.
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