Early phonological development: creating an assessment test.

Early phonological development: creating an assessment test. Clin Linguist Phon. 2013 Apr;27(4):278-86 Authors: Stoel-Gammon C, Williams AL Abstract This paper describes a new protocol for assessing the phonological systems of two-year-olds with typical development and older children with delays in vocabulary acquisition. The test (Profiles of Early Expressive Phonological Skills (PEEPS), Williams &Stoel-Gammon, in preparation ) differs from currently available assessments in that age of acquisition, based on lexical norms from the MacArthur-Bates Communicative Developmental Inventories, served as the primary criterion for creating a word list. Phonetic and semantic properties of the words were also considered in selecting items for the test. Productions of words using the PEEPS protocol have been gathered from a group of children with typical development and another group with cleft lip and/or palate. By 24 months of age, the children with typical development produced more than 90% of the target words and the children with atypical development produced 73% of the words. Regarding administration, the time needed for administering the protocol decreased with age. PMID: 23489340 [PubMed - in process]
Source: Clinical Linguistics and Phonetics - Category: Speech Therapy Authors: Tags: Clin Linguist Phon Source Type: research

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The surgical treatment of cleft lip and cleft palate involves several stages: cleft lip repair, palatoplasty, and alveolar bone graft (ABG). It is increasingly challenging to teach these procedures to residents in the operating room because of the requirement for delicate tissue handling, limited visibility, and potential complications arising from subtle technical errors.1 Physical surgical simulators are useful to practice and prepare for the actual operative experience, and several have been used for cleft lip and palatoplasty training.
Source: Journal of Plastic, Reconstructive and Aesthetic Surgery - Category: Cosmetic Surgery Authors: Tags: Correspondence and Communications Source Type: research
This study aimed to explore a particular single-stage method and evaluate the effect of simultaneous reparation of secondary unilateral cleft lip-nose deformities.Cleft lip patients who had previously undergone nasolabial surgery with residual poor nasal/lip appearance were included. The alveolar bone defect was repaired with granular costal cortical bone. Lip revision and rhinoplasty were performed using diced costal cartilage. The lip, nose, and alveolar deformities were corrected in one stage.From 2011 to 2017, 53 cases were treated. The vermilion discrepancy was corrected in all cases. Fifty-one patients were successfu...
Source: Journal of Cranio Maxillofacial Surgery - Category: ENT & OMF Source Type: research
CONCLUSIONS: Although the findings of this large-scale study reflect overall health-care satisfaction, issues are raised in relation to the quality of information families received, particularly for fathers. In addition, fathers may feel less included in their child's treatment pathway. These findings offer practical suggestions as to which areas of care could be targeted by all health professionals to improve parents' health-care experiences and promote overall familial adjustment. PMID: 31813267 [PubMed - as supplied by publisher]
Source: The Cleft Palate-Craniofacial Journal - Category: ENT & OMF Authors: Tags: Cleft Palate Craniofac J Source Type: research
Muenke syndrome is a craniosynostosis syndrome associated with the p.Pro250Arg mutation in FGFR3. An increasing number of individuals with this mutation are reported to not have craniosynostosis. The purpose of this report is to increase awareness of the high phenotypic variability seen in Muenke syndrome. DNA testing for the p.Pro250Arg mutation is routinely performed in Denmark, in children presenting with isolated coronal synostosis. Verified diagnosis entails detailed family history, drawing of family pedigree, DNA testing of the parents, genetic counseling, skull radiographs, clinical photographs, and follow-up. Sixte...
Source: Clinical Dysmorphology - Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
Microdeletion of the entire interferon regulatory factory 6 (IRF 6) gene is a rare cause of Van der Woude syndrome (VDW) with only few cases reported in medical literature. Its occurrence in multiple affected members of a family is exceptional. The aim of this presentation was to describe a Central African family with typical VDW phenotype carrying an IRF6 gene deletion. Here we reported phenotype features of members of a Central African family with VDW syndrome consisting of labioalveolar cleft, depressions of the lower lip with labial fistulae (lip pits), submucosal clefts and cleft palate. Mutation analysis by means of ...
Source: Clinical Dysmorphology - Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
Han Brunner Nel Roeleveld Koen Devriendt Titiaan Dormaar Greet Hens Michael Knapp Carine Carels Elisabeth Mangold Non-syndromic cleft lip with or without cleft palate (nsCL/P) ranks among the most common human congenital malformations, and has a multifactorial background in which both exogenous and genetic risk factors act in concert. The present report describes a genome-wide association study (GWAS) involving a total of 285 nsCL/P patients and 1212 controls from the Netherlands and Belgium. Twenty of the 40 previously reported nsC/LP susceptibility loci were replicated, which underlined the validity of ...
Source: Genes - Category: Genetics & Stem Cells Authors: Tags: Article Source Type: research
Publication date: Available online 28 November 2019Source: Journal of Cranio-Maxillofacial SurgeryAuthor(s): Jaideep Singh Chauhan, Sarwpriya SharmaAbstractIn synchronous primary premaxillary setback and cleft lip repair for bilateral cases with severely protruding premaxilla, stabilization of the premaxilla is mostly achieved by gingivoperiosteoplasty. This kind of repair carries risk of impairment of blood supply to the premaxilla and/or prolabium, and at the same time it cannot ensure adequate stabilization of the premaxilla postoperatively. To overcome these problems, we have developed a unique technique of fixation of...
Source: Journal of Cranio Maxillofacial Surgery - Category: ENT & OMF Source Type: research
CONCLUSION: Birth defect-specific stillbirth risk was high compared with the U.S. stillbirth risk (6/1,000 fetuses), even for isolated cases of oral clefts and limb defects; elective termination may appreciably bias some estimates. These data can inform clinical care and counseling after prenatal diagnosis. PMID: 31809437 [PubMed - as supplied by publisher]
Source: Obstetrics and Gynecology - Category: OBGYN Authors: Tags: Obstet Gynecol Source Type: research
CONCLUSIONS: The pharyngeal dimensions of individuals with TCS are impacted by the micrognathia and retrognathia. In association with the skeletal pattern, the reduction of the airways, although not statistically significant, may explain the increased prevalence of airways disorder in this syndrome. PMID: 31801369 [PubMed - as supplied by publisher]
Source: The Cleft Palate-Craniofacial Journal - Category: ENT & OMF Authors: Tags: Cleft Palate Craniofac J Source Type: research
Kapil K Avasthi, Sarita Agarwal, Inusha PanigrahiJournal of Pediatric Neurosciences 2019 14(4):222-224The congenital myopathies are a heterogeneous group of inherited neuromuscular disorders characterized by early-onset muscular weakness, hypotonia, and developmental delay. The congenital myopathies are further classified into centranuclear myopathies, nemaline myopathies, core myopathies, and congenital fiber-type disproportion based on major pathological features found in muscle biopsies. There is no evidence at present to show that cleft palate is associated with severe nemaline myopathies and fetal akinesia. The result...
Source: Journal of Pediatric Neurosciences - Category: Neuroscience Authors: Source Type: research
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