Background: Some data call into question the persistence of developmental language disorders (DLDs) identified during the preschool period. For this reason, speech-language pathologists (SLPs) often reassess children. However, it is unclear if the instability of the profiles documented in community sample studies is present in children referred to specialized clinics. Given the scarcity of SLP resources, is re-evaluating the language skills of these children a good use of clinical time?
Aim: To examine the stability of the findings from two SLP assessments in a sample of Canadian preschool children referred to a tertiary clinic between the ages of 2 and 6 years. It was hypothesized that children under the age of 4 years at first assessment and children with less severe initial deficits would show less stability of DLD diagnosis.
Methods & Procedures: The clinical files of children referred to an early childhood psychiatric clinic in Canada were reviewed. For 149 children with two SLPs assessment reports, persistence of language deficits was documented and tested with McNemar's statistics. Differences between preschoolers under the age of 4 versus 4 years and over, as well as between mildly and severely impaired children, were examined.
Outcomes & Results: High level of agreement (94%) and McNemar's test (p = 0.180) supported the stability of initial diagnosis. The stability for children assessed before the age of 4 (n = 64) was 100%, and was significantly different from older children's (n = 85) stability of 89% (Fisher's exact test, p = 0.01; bilateral). The stability for children with mild impairments (n = 18) was 78%, which was significantly lower than the stability (97%) in children with severe impairments (n = 114) (Fisher's exact test, p = 0.007; bilateral).
Conclusions & Implications: No instability of language status was observed in children assessed before 4 years of age, which could be related to the significant severity of the difficulties that children in this age group presented and be specific to this type of clinical sample. The great stability of language status observed in preschoolers referred to a specialized clinic suggests that clinicians should limit reassessments to devote available resources to intervention efforts.
What This Paper Adds: What is already known on this subject? Previous research that has demonstrated important instability in the classification of language impairment before 4 years of age gathered data mainly by screening the general population or was not based on a comprehensive clinical assessment. What this paper adds to existing knowledge? This study investigated the classification stability of DLD between two comprehensive SLP assessments in a clinical sample of Canadian preschoolers. The results indicate great stability of language status assessed before 4 years old in this population, suggesting that severity of impairments may trump the age factor in this group. What are the potential or actual clinical implications of this work? In the case of children referred to a specialized clinic, clinicians and policymakers should be aware that DLD diagnosis made before 4 years of age remains stable during preschool age, and that a best practice with this population would be to abandon unnecessary testing in favour of early intervention.
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http://dx.doi.org/10.1111/1460-6984.12776 | DOI Listing |
Rev Alerg Mex
December 2024
Departamento de Inmunología, Hospital Infantil de Especialidades de Chihuahua; Facultad de Medicina y Ciencias Biomédicas, Universidad Autónoma de Chihuahua.
Background: 22q11 deletion syndrome consists of a variable grouping of phenotypic features and immunological defects secondary to the loss of genetic material located in the 22q11.2 band. The 22q11 deletion spectrum encompasses different syndromes related to the same etiology and with overlapping anomalies, including DiGeorge syndrome, velocardiofacial syndrome, among others.
View Article and Find Full Text PDFJAMA Netw Open
January 2025
Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.
Importance: Administrative health data serve as promising data sources to study transgender health at a population level in the absence of self-reported gender identity.
Objective: To develop and validate case definitions identifying transgender adults in administrative data compared with the reference standard of self-reported gender identity in a universal health care setting.
Design, Setting, And Participants: In this cohort study conducted in Alberta, Canada, data from provincial administrative health data sources including inpatient hospitalizations, emergency department encounters, primary care visits, prescription drug dispensations, and the provincial health insurance registry were linked and used to develop 15 case definitions (9 for transgender women and 6 for transgender men).
Calcif Tissue Int
January 2025
Department of Endocrinology, Odense University Hospital, Odense, Denmark.
Osteogenesis imperfecta (OI) is a group of rare genetic disorders most commonly caused by reduced amount of biologically normal collagen type I, a structural component of the gastrointestinal tract and abdominal wall. The risk of gastrointestinal (GI) disease in individuals with OI is not well understood, despite GI complaints being frequently reported by the OI population. To investigate the risk of GI diseases in individuals with OI.
View Article and Find Full Text PDFClin Infect Dis
January 2025
MeMed, Tirat Carmel, Israel.
Background: Diagnostic test evaluation requires a reference standard. We describe an approach for creating a reference standard for acute infection using unrestricted adjudication and apply it to compare biomarker tools.
Methods: Adults and children with suspected acute infection enrolled in three prospective studies at emergency departments and urgent cares were included.
Ann Neurol
January 2025
Department of Pediatric Neurology, Charité-Universitätsmedizin Berlin, Berlin, Germany.
Objective: Monoallelic variants in the transient receptor potential melastatin-related type 3 gene (TRPM3) have been associated with neurodevelopmental manifestations, but knowledge on the clinical manifestations and treatment options is limited. We characterized the clinical spectrum, highlighting particularly the epilepsy phenotype, and the effect of treatments.
Methods: We analyzed retrospectively the phenotypes and genotypes of 43 individuals with TRPM3 variants, acquired from GeneMatcher and collaborations (n = 21), and through a systematic literature search (n = 22).
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