Multiple phonetically trained-listener comparisons of speech before and after articulatory intervention in two children with repaired submucous cleft palate.

Multiple phonetically trained-listener comparisons of speech before and after articulatory intervention in two children with repaired submucous cleft palate. Clin Linguist Phon. 2016 Feb 22;:1-18 Authors: Roxburgh Z, Cleland J, Scobbie JM Abstract Cleft Palate (CP) assessments based on phonetic transcription are the "gold standard" therapy outcome measure, despite reliability difficulties. Here we propose a novel perceptual evaluation, applied to ultrasound-visual biofeedback (U-VBF) therapy and therapy using visual articulatory models (VAMs) for two children with repaired submucous CP. Three comparisons were made: post VAM, post U-VBF and overall pre- and post-therapy. Twenty-two phonetically-trained listeners were asked to determine whether pre- or post-therapy recordings sounded "closer to the English target", using their own implicit phonological knowledge (prompted via orthographic representation). Results are compared with segment-oriented percent target consonant correct (PTCC) derived from phonetic transcriptions. Listener judgements and PTCC suggest that both children made improvements using both VAM and U-VBF. Statistical analysis showed listener agreement in each comparison, though agreement was weak. However, perceptual evaluation offers a straightforward method of evaluating the effectiveness of interventions and can be used by phonetically trained or lay listeners. PMID: 26901243 [PubMed - as supplied by publisher]
Source: Clinical Linguistics and Phonetics - Category: Speech Therapy Authors: Tags: Clin Linguist Phon Source Type: research

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Rationale: Micrognathia is a subtle facial malformation characterized by a small mandible and receding chin. Fetal micrognathia is often associated with chromosomal abnormalities, skeletal dysplasia, and various syndromes. Once it is dignosised, detailed fetal malformation screening and chromosome examination should be carried out. Patient concern: One pregnant woman with suspicion of fetal micrognathia was referred from her local hospital to our hospital for detailed fetal malformation screening and fetal echocardiography. Examination of the fetus was performed using a two-dimensional and three-dimensional ultrasound...
Source: Medicine - Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research
Conclusion: This meta-analysis shows that MRI has an excellent sensitivity and good to excellent specificity for diagnosing cleft palate in fetuses at risk for orofacial clefts. Future research should assess applicability for clinical care.What is Known:•Using ultrasound for prenatal detection of cleft palate leads to misdiagnosis frequently.•MRI could potentially improve the prenatal detection rate of cleft palate.What is New:•Eight studies describe the diagnostic accuracy of MRI for detecting cleft palate.•Combined results show excellent sensitivity and good to excellent specificity.
Source: European Journal of Pediatrics - Category: Pediatrics Source Type: research
CONCLUSIONS: The superimposed line sign is a new sonographic marker in evaluation of midline defects of secondary palate and documentation of this sign proves the presence of both palate and vomer in midline. This marker can be better demonstrated in the late first trimester leading to early diagnosis of palatine clefts. This article is protected by copyright. All rights reserved. PMID: 31763719 [PubMed - as supplied by publisher]
Source: The Ultrasound Review of Obstetrics and Gynecology - Category: Radiology Authors: Tags: Ultrasound Obstet Gynecol Source Type: research
Authors: Pramono LA, Yuwono A Abstract Congenital hypothyroidism is the most treatable cause of mental retardation. It is also the most prevalent congenital endocrine disorder in childhood. A dramatic improvement can be made by early detection, diagnosis, and adequate treatment of levothyroxine in patients with congenital hypothyroidism. Severe cognitive impairment is associated with persistent disease in patients who have delayed or no treatment at all. In a modern era with complete healthcare facilities in a big city like Jakarta, the prevalence late-diagnosed congenital hypothyroidism is supposed to be very low....
Source: Acta medica Indonesiana - Category: Internal Medicine Tags: Acta Med Indones Source Type: research
PMID: 31671475 [PubMed - as supplied by publisher]
Source: The Ultrasound Review of Obstetrics and Gynecology - Category: Radiology Authors: Tags: Ultrasound Obstet Gynecol Source Type: research
Abstract OBJECTIVE: To examine the performance of the routine 11-13 weeks scan in detecting fetal non-chromosomal abnormalities. METHODS: This was a retrospective study of prospectively collected data from 100,997 singleton pregnancies attending for a routine ultrasound examination for fetal anatomy, according to a standardized protocol, at 11-13 weeks' gestation. All continuing pregnancies had an additional scan at 18-24 weeks and 71,754 had a scan at either 30-34 or 35-37 weeks. The final diagnosis of fetal abnormalities was based on the results of postnatal examination in the case of livebirths and on the ...
Source: The Ultrasound Review of Obstetrics and Gynecology - Category: Radiology Authors: Tags: Ultrasound Obstet Gynecol Source Type: research
Treatment TermsCleft Lip and Cleft Palate RepairPediatric Plastic and Reconstructive Surgery Overview When Jack Stroud was born with a cleft lip and cleft palate, his parents were prepared. Their son ’s birth defect was detected during a pregnancy ultrasound, which gave the couple time to research where he would receive his care. Jack began seeing specialists at Duke during his first week of life. Just four years later, it’s nearly impossible to tell he was born with a cleft lip and palate. Hero Image2019_cleft_jack_02.jpg Preview Image Content Blocks CTA Header Learn More CTA ButtonCleft Lip and Palate...
Source: dukehealth.org: Duke Health News - Category: Consumer Health News Authors: Source Type: news
This study extends the range of anomalies directly demonstrated to have fetal mouth movement defects correlated with cleft palate. Here, we show that mouse embryos deficient in retinoic acid (RA) have mispatterned pharyngeal nerves and skeletal elements that block spontaneous fetal mouth movement in utero. Using X-ray microtomography, in utero ultrasound video, ex vivo culture and tissue staining, we demonstrate that proper retinoid signaling and pharyngeal patterning are crucial for the fetal mouth movement needed for palate formation. Embryos with deficient retinoid signaling were generated by stage-specific inactivation...
Source: DMM Disease Models and Mechanisms - Category: Biomedical Science Authors: Tags: RESEARCH ARTICLE Source Type: research
Conclusions: The prenatal diagnosis of ectopia cordis associated with aneuploidy can be made in the first trimester of pregnancy. An extrathoracic heart located in a liver-containing omphalocoele should be considered a thoraco-abdominal ectopia cordis rather than pentalogy of Cantrell. PMID: 31215820 [PubMed - as supplied by publisher]
Source: Fetal and Pediatric Pathology - Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research
ConclusionOur findings suggest that there is a need of multidisciplinary discussion and genetic testing after unexpected cardiac death in the young. We have to be more flexible in our evaluation of diseases and to consider even uncommon diseases including rare recessive inherited disorders. Our findings also suggest that the autosomal recessive PGM1-CDG might be highly associated with life-threatening cardiomyopathy with arrhythmia or sudden cardiac death as the first symptom presenting from childhood and adolescence.
Source: Forensic Science International: Genetics - Category: Forensic Medicine Source Type: research
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