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1.
Int J Lang Commun Disord ; 59(1): 223-233, 2024.
Article de Anglais | MEDLINE | ID: mdl-37528522

RÉSUMÉ

BACKGROUND: As delays or disorders in early language and communication are the most prevalent symptom in children with disabilities, early screening is crucial to promote prevention, early diagnosis, and intervention. However, to the best of our knowledge, no screening tool is available for the joint assessment of early language and social communication skills in European Portuguese (EP)-learning children, which is critical for screening, monitoring and enrolment in appropriate early intervention services. AIMS: (1) To adapt and validate the EP version of the Communication and Symbolic Behaviour Scales Developmental Profile™ (CSBS DP™) Infant-Toddler Checklist, a parental report for the screening of early language and social communication skills. (2) To conduct a cross-cultural comparison between the EP adaptation and the original US version. METHODS & PROCEDURES: A total of 611 EP-learning children (ages 6-24 months) were assessed on the CSBS DP Infant-Toddler Checklist. Normative data, psychometric characteristics (i.e., internal consistency and test-retest reliability), and cross-cultural comparison between the EP and the original version were explored. OUTCOMES & RESULTS: Internal consistency ranged from good to excellent and the test-retest reliability was excellent. The performance of the EP and US samples matched on almost all scores. However, EP children performed significantly better than their American peers in the Social compositive at 22 months and in the Symbolic composite at 20 months. No further differences were found. CONCLUSIONS & IMPLICATIONS: These findings showed that the EP CSBS DP Infant-Toddler Checklist seems to be a reliable screening tool of communicative and symbolic behaviours for EP-learning children, which can be particularly relevant for decision-making in clinical practice. WHAT THIS PAPER ADDS: What is already known on the subject Early communication skills are known to be related to later language outcomes. Thus, screening tools for the early identification of children at risk for language and communication impairments, which may lead to monitoring and early intervention, have the potential to promote better outcomes. However, to the best of our knowledge, no screening tool is available for the assessment of early communication abilities in EP-learning children. What this paper adds to existing knowledge This study adapted and validated the EP CSBS DP Infant-Toddler Checklist, the first published parental report checklist for the assessment of early communication skills in EP. It described the psychometric characteristics of the adapted checklist, summarized the newly available normative data for EP-learning infants and toddlers, and compared the performance of EP-learning children with the original standardization sample reported for American English. The results demonstrated that this tool is a reliable instrument for the early screening of language, communicative and symbolic behaviours for EP-learning children between 6 and 24 months of age. What are the potential or actual clinical implications of this work? Given that early screening is crucial to promote prevention, early diagnosis and intervention, the availability of this tool is particularly relevant for children monitoring and their enrolment in appropriate early intervention services, helping decision-making in clinical practice, in line with current guidelines regarding early monitoring and intervention to promote and support better outcomes. Thus, the tool and related normative data will be useful for paediatricians, family doctors, primary healthcare providers, developmental psychologists and speech-language therapists, among other professionals in the healthcare and educational fields, concerned with speech, language, and communication development and impairments.


Sujet(s)
Liste de contrôle , Communication , Nourrisson , Humains , Enfant d'âge préscolaire , Reproductibilité des résultats , Portugal , Langage
2.
Front Psychol ; 14: 1206949, 2023.
Article de Anglais | MEDLINE | ID: mdl-37546451

RÉSUMÉ

Introduction: Various parental report instruments are available for assessing children's language skills at the end of the second year. However, comparison studies on their usability are lacking, and it is also open to question what kind of information the instruments provide when used in a parallel manner. This longitudinal study investigated which of the available three parental report instruments, when used at 2;0 (year;month), provides the most representative information on language development at 3;6. In addition, since most of the parental report instruments available focus specifically on expressive language, the role of receptive language ability was also investigated when analyzing the explanatory value of parental report instruments. Methods: The participants were 68 typically developing children. At 2;0, language skills were measured using the following measures: the Infant-Toddler Checklist of the Communication and Symbolic Behavior Scales Developmental Profile (ITC), the Short Form and Long Form versions of the Finnish Communicative Development Inventories (FinCDI-SF, FinCDI-LF), and the Reynell Developmental Language Scales III (RDLS). The outcome measures were receptive/expressive/ general language ability at 3;6 measured using RDLS. Results: The results of parental report instruments were significantly and positively associated with language ability at 3;6. The correlation between the combined value of ITC and FinCDI-SF and later language ability was stronger than correlations for each measure separately. The regression models with the results of parental report instruments as predictors explained 18-22% (p < 0.00) of the variability in the total RDLS score. However, when receptive language ability at 2;0 was included in the models as a predictor, R2 increased considerably (46-48%, p < 0.00). Discussion: The results adduce the usability of parental report measures along with the importance of measuring receptive language skills at 2 years of age. In summary, this study provides important insights into the clinical evaluation of early language ability.

3.
Int J Mol Sci ; 24(6)2023 Mar 16.
Article de Anglais | MEDLINE | ID: mdl-36982793

RÉSUMÉ

The immunoglobulin-like cell adhesion molecule CLMP is a member of the CAR family of cell adhesion proteins and is implicated in human congenital short-bowel syndrome (CSBS). CSBS is a rare but very severe disease for which no cure is currently available. In this review, we compare data from human CSBS patients and a mouse knockout model. These data indicate that CSBS is characterized by a defect in intestinal elongation during embryonic development and impaired peristalsis. The latter is driven by uncoordinated calcium signaling via gap junctions, which is linked to a reduction in connexin43 and 45 levels in the circumferential smooth muscle layer of the intestine. Furthermore, we discuss how mutations in the CLMP gene affect other organs and tissues, including the ureter. Here, the absence of CLMP produces a severe bilateral hydronephrosis-also caused by a reduced level of connexin43 and associated uncoordinated calcium signaling via gap junctions.


Sujet(s)
Connexine 43 , Pseudo-obstruction intestinale , Animaux , Souris , Humains , Connexine 43/génétique , Connexine 43/métabolisme , Adhérence cellulaire , Protéine membranaire apparentée au récepteur des coxsackievirus et adénovirus , Molécules d'adhérence cellulaire/métabolisme
4.
Genetica ; 149(3): 191-201, 2021 Jun.
Article de Anglais | MEDLINE | ID: mdl-33914198

RÉSUMÉ

The vertebrate mitochondrial genome is characterized by an exceptional organization evolving towards a reduced size. However, the persistence of a non-coding and highly variable control region is against this evolutionary trend that is explained by the presence of conserved sequence motifs or binding sites for nuclear-organized proteins that regulate mtDNA maintenance and expression. We performed a comparative mitogenomic investigation of the non-coding control region to understand its evolutionary patterns in Clupeoid fishes which are widely distributed across oceans of the world, exhibiting exemplary evolutionary potential. We confirmed the ability of sequence flanking the conserved sequence motifs in the control region to form stable secondary structures. The existence of evolutionarily conserved secondary structures without primary structure conservation suggested the action of selective constraints towards maintaining the secondary structure. The functional secondary structure is maintained by retaining the frequency of discontinuous AT and TG repeats along with compensatory base substitutions in the stem forming regions which can be considered as a selective constraint. The nucleotide polymorphism along the flanking regions of conserved sequence motifs can be explained as errors during the enzymatic replication of secondary structure-forming repeat elements. The evidence for selective constraints on secondary structures emphasizes the role of the control region in mitogenome function. Maintenance of high frequency of discontinuous repeats can be proposed as a model of adaptive evolution against the mutations that break the secondary structure involved in the efficient regulation of mtDNA functions substantiating the efficient functioning of the control region even in a high nucleotide polymorphism environment.


Sujet(s)
Poissons/génétique , Génome mitochondrial , Région de contrôle de locus , Sélection génétique , Animaux , Séquence conservée , Évolution moléculaire , Polymorphisme de nucléotide simple
5.
Int J Lang Commun Disord ; 51(3): 265-75, 2016 May.
Article de Anglais | MEDLINE | ID: mdl-26542094

RÉSUMÉ

BACKGROUND: Substantial development in social communication skills occurs in the first two years of life. Growth should be evident in sharing emotion and eye gaze; rate of communication, communicating for a variety of functions; using gestures, sounds and words; understanding language, and using functional and pretend actions with objects in play. A delay in these early social communication skills may be the first sign of a developmental delay in young children in nearly all categories of disabilities-including specific language impairment, autism spectrum disorder, HIV/AIDS, lack of environmental stimulation or institutionalization, and global developmental delays-and early detection of these delays is critical for enrolment in appropriate early intervention services. AIMS: No standardized tests of early social communication skills exist for very young children in South Africa (SA). An existing evaluation tool that has the potential to be culturally fair for children from cultural backgrounds different to the standardization group is the Communication and Symbolic Behaviour Scales-Developmental Profile (CSBS DP). This study aimed to document the performance of a group of English-speaking SA children ranging in age from 12 to 24 months on the CSBS DP and to compare this performance with the original standardization sample. METHODS & PROCEDURES: Sixty-seven English-speaking SA children from a range of cultural and linguistic backgrounds were assessed on the CSBS DP Behaviour Sample. Group scores were compared with the original standardization sample using inferential statistics. OUTCOMES & RESULTS: The results provide preliminary support for the suitability and validity of the face-to-face Behaviour Sample as a measure of early social communication skills in this sample of English-speaking SA children from a range of cultural groups between 12 and 24 months of age. CONCLUSIONS & IMPLICATIONS: While further research in the SA population is needed, these findings are a first step towards validating a culturally appropriate measure for early detection of social communication delays in a sample of SA toddlers.


Sujet(s)
Pays en voie de développement , Incapacités de développement/diagnostic , Infections à VIH/diagnostic , Déficience intellectuelle/diagnostic , Troubles du développement du langage/diagnostic , Tests du langage/statistiques et données numériques , Trouble de la communication sociale/diagnostic , Incapacités de développement/thérapie , , Femelle , Infections à VIH/thérapie , Humains , Nourrisson , Déficience intellectuelle/thérapie , Troubles du développement du langage/thérapie , Mâle , Jeu et accessoires de jeu , Psychométrie/statistiques et données numériques , Reproductibilité des résultats , Trouble de la communication sociale/thérapie , République d'Afrique du Sud , Symbolisme
6.
Res Dev Disabil ; 38: 309-18, 2015 Mar.
Article de Anglais | MEDLINE | ID: mdl-25577181

RÉSUMÉ

This study marked a preliminary attempt to standardize the Chinese Edition of the Communication and Symbolic Behavior Scales Developmental Profile (Wetherby & Prizant, 2002; CSBS DP) to assist in the early identification of young children with special needs in Taiwan. The study was conducted among 171 infants and toddlers aged 1-2. It also included a follow-up study one year after the initial test. Three domestically developed standardized child development inventories were used to measure the concurrent validity and predictive validity. The Chinese Edition of the CSBS DP demonstrated overall good test-retest and inter-rater reliability. It also showed good concurrent and predictive validity. The current study yields preliminary evidence that the Chinese Edition of the CSBS DP could be a valuable assessment tool worthy of wider distribution. Future research should employ random sampling to establish a true national norm. Additionally, the follow-up study needs to include atypical groups and to expand to children aged 6-12 months to strengthen the applicability of the instrument in Taiwan.


Sujet(s)
Développement de l'enfant , Troubles de la communication/diagnostic , Incapacités de développement/diagnostic , Enfant d'âge préscolaire , Soins adaptés sur le plan culturel , Diagnostic précoce , Femelle , Études de suivi , Humains , Nourrisson , Mâle , Reproductibilité des résultats , Taïwan
7.
Res Dev Disabil ; 35(5): 1042-50, 2014 May.
Article de Anglais | MEDLINE | ID: mdl-24594522

RÉSUMÉ

This study was conducted with 171 toddlers aged 1-2 in Taiwan using the Chinese version of the Communication and Symbolic Behavior Scale-Developmental Profile (CSBS-DP). A significant difference in the scores for the symbolic subscale was observed between the test subjects in Taiwan and the norm established in the original CSBS-DP in the United States. Furthermore, this difference varied across the three assessment tools of the CSBS-DP: the Infant-Toddler Checklist, the Caregiver Questionnaire, and the Behavior Sample. In the checklist and caregiver questionnaires, the scores in the language comprehension cluster and the object use cluster were significantly lower for Taiwanese toddlers than for their counterparts in the United States. In the behavior samples, however, the toddlers in Taiwan scored significantly higher than their peers in the United States in the object use cluster and lower than their American counterparts in the language comprehension cluster. This discrepancy suggests that cultural factors have a potential impact on performance, and thus such factors need to be considered in future endeavors to improve upon the Chinese version of the CSBS-DP.


Sujet(s)
Développement de l'enfant , Communication , Compréhension , Comparaison interculturelle , Femelle , Humains , Nourrisson , Développement du langage oral , Mâle , Enquêtes et questionnaires , Taïwan , États-Unis
8.
Gene ; 537(2): 177-83, 2014 Mar 10.
Article de Anglais | MEDLINE | ID: mdl-24412485

RÉSUMÉ

We present the complete mitogenome of a stonefly, Cryptoperla stilifera Sivec (Plecoptera; Peltoperlidae). The mitogenome was a circular molecule consisting of 15,633 nucleotides, 37 genes and a A+T-rich region. C. stilifera mitogenome was similar to Pteronarcys princeps mitogenome (Plecoptera; Pteronarcyidae). All transfer RNA genes (tRNAs) had typical cloverleaf secondary structures except for trnSer (AGN), where the stem-loop structure of the dihydrouridine (DHU) arm was missing. The A+T-rich region of C. stilifera had two stem-loops and each had two interlink. Three conserved sequence blocks (CSBs) were present in the A+T-rich regions of C. stilifera, Peltoperla tarteri and Peltoperla arcuata. Moreover, many polynucleotide stretches (Poly N, N=A, T and C) in the A+T-rich region of C. stilifera Phylogenetic relationships of Polyneopteran species were constructed based on the nucleotide sequences of 13 protein coding genes (PCGs). Both maximum likelihood (ML) and Bayesian inference (BI) analyses supported Grylloblattodea as the sister group to Plecoptera+Dermaptera and Embiidina and Phasmatodea as sister groups.


Sujet(s)
Génome mitochondrial , Insectes/génétique , Phylogenèse , Animaux , Séquence nucléotidique , Théorème de Bayes , Codon , Région de contrôle de locus , Données de séquences moléculaires , Conformation d'acide nucléique , ARN/composition chimique , ARN de transfert/composition chimique , ARN de transfert/génétique
9.
Arch Phys Med Rehabil ; 94(11): 2210-7, 2013 Nov.
Article de Anglais | MEDLINE | ID: mdl-23583864

RÉSUMÉ

OBJECTIVES: To explore the communication skills of children with cerebral palsy (CP) at 24 months' corrected age with reference to typically developing children, and to determine the relationship between communication ability, gross motor function, and other comorbidities associated with CP. DESIGN: Prospective, cross-sectional, population-based cohort study. SETTING: General community. PARTICIPANTS: Children with CP (N=124; mean age, 24mo; functional severity on Gross Motor Function Classification System [GMFCS]: I=47, II=14, III=22, IV=19, V=22). INTERVENTIONS: Not applicable. MAIN OUTCOME MEASURES: Parents reported communication skills on the Communication and Symbolic Behavior Scales Developmental Profile (CSBS-DP) Infant-Toddler Checklist. Two independent physiotherapists classified motor type, distribution, and GMFCS. Data on comorbidities were obtained from parent interviews and medical records. RESULTS: Children with mild CP (GMFCS I/II) had mean CSBS-DP scores that were 0.5 to 0.6 SD below the mean for typically developing peers, while those with moderate-severe impairment (GMFCS III-V) were 1.4 to 2.6 SD below the mean. GMFCS was significantly associated with performance on the CSBS-DP (F=18.55, P<.001), with gross motor ability accounting for 38% of the variation in communication. Poorer communication was strongly associated with gross motor function and full-term birth. CONCLUSIONS: Preschool-aged children with CP, with more severe gross motor impairment, showed delayed communication, while children with mild motor impairment were less vulnerable. Term-born children had significantly poorer communication than those born prematurely. Because a portion of each gross motor functional severity level is at risk, this study reinforces the need for early monitoring of communication development for all children with CP.


Sujet(s)
Paralysie cérébrale/rééducation et réadaptation , Communication , Aptitudes motrices , Paralysie cérébrale/épidémiologie , Paralysie cérébrale/physiopathologie , Développement de l'enfant , Enfant d'âge préscolaire , Comorbidité , Études transversales , Épilepsie/épidémiologie , Femelle , Humains , Nourrisson , Mâle , Analyse multifactorielle , Études prospectives , Naissance à terme
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