Abstract The aim of this study was to define distinct craniofacial features in subjects with nonsyndromic cleft lip and palate (CLP) and in subjects with Turner syndrome (TS), and to evaluate the resemblance of these features among their family members. This might help in elucidating if there is a parental contribution to possible predisposing craniofacial features in cleft subjects and to the severity of certain distinct craniofacial features in subjects with X chromosome monosomy. The study population consisted of 29 Costa Rican CLP families including unaffected parents and siblings, and of 71 TS (45,X) subjects and members of their families. Based on lateral and frontal cephalometric analyses, cleft family members were characterized by reduced cranial height and head width, greater interorbital and nasal cavity widths, shorter anterior cranial base and palatal lengths, and shorter total face height compared to control values. With respect to these distinct craniofacial features, there were statistically significant associations in anterior cranial base and palatal length, and head, forehead and outer interorbital width measurements between parents and their children with CLP. The sidedness of the cleft in affected children was related to the asymmetry of the nasal cavity width in their parents. The distinct craniofacial features of the TS subjects, such as short clivus, retrognathic position of mandible, and narrow maxilla at the level of first premolars were related to their mothers' corresponding features. The presence of lateral palatine ridges, which were detected in one third of the TS subjects, was related to the narrowness of the posterior palate rather than to the variation in the tongue position. Distinct craniofacial features segregate in cleft family members. The several significant associations in distinct craniofacial dimensions between parents and children with CLP emphasize the importance of genetic factors in the genesis of nonsyndromic orofacial clefting. The present results support the concept that maternal factors contribute to the degree of deficiency in the growth of the cranial base and to the magnitude of mandibular retrognathism of their daughters with TS. Maternal influences may also modify the width of the palate in TS.

abstract: Children with cleft palate with or without cleft lip (CP+/-L) often demonstrate disordered speech. Clinicians and researchers have a goal for children with CP+/-L to demonstrate typical speech when entering kindergarten; however, this benchmark is not routinely met. There is a large body of previous research examining speech articulation skills in this clinical population; however, there are continued questions regarding the severity of articulation deficits in children with CP+/-L, especially for the age range of children entering school. This dissertation aimed to provide additional information on speech accuracy and speech error usage in children with CP+/-L between the ages of four and seven years. Additionally, it explored individual and treatment characteristics that may influence articulation skills. Finally, it examined the relationship between speech accuracy during a sentence repetition task versus during a single-word naming task. Children with CP+/-L presented with speech accuracy that differed according to manner of production. Speech accuracy for fricative phonemes was influenced by severity of hypernasality, although age and status of secondary surgery did not influence speech accuracy for fricatives. For place of articulation, children with CP+/-L demonstrated strongest accuracy of production for bilabial and velar phonemes, while alveolar and palatal phonemes were produced with lower accuracy. Children with clefting that involved the lip and alveolus demonstrated reduced speech accuracy for alveolar phonemes compared to children with clefts involving the hard and soft palate only. Participants used a variety of speech error types, with developmental/phonological errors, anterior oral cleft speech characteristics, and compensatory errors occurring most frequently across the sample. Several factors impacted the type of speech errors used, including cleft type, severity of hypernasality, and age. The results from this dissertation project support previous research findings and provide additional information regarding the severity of speech articulation deficits according to manner and place of consonant production and according to different speech error categories. This study adds information on individual and treatment characteristics that influenced speech accuracy and speech error usage. / Dissertation/Thesis / Doctoral Dissertation Speech and Hearing Science 2020

Introduction Otitis mediawith effusion is found in almost every patient with cleft palate. Arisk factor for permanent conductive hearing lossis recurring otitis media which is commonly found in cleft palate patients. Several studieshave been conductedto measure the extent of hearing loss in childrenwith cleft palate.Hearing problemsdue to otitis mediaoften persist into adulthood.Thus, it is of interest to see if there are any existing studies onhearing impairments inadultcleft palatepatients. Objective The purpose of this study is tosummarize theexisting literatureon hearing impairments in adult patients with cleft palate and to map the characteristics of the studies found. Method A scoping reviewprotocolproposedby Joanna Briggs Institutewas usedto synthesizeand summerizethe published literaturesearchedinthe PubMed database. Syndromal cleft palates were excluded from this study. Results Onereviewer went through 11full-text articlesthatwere considered relevant.It was possible toidentify five different key areas of research among the included studies. Conclusions It wasfound that there is literature available on this topic,but the heterogeneity of the studies made it impossible to compare the charted data betweenthe studies. We identifieda need for longitudinal studies on this topic and suggest more standardization withregard tothe definitions of cleft palate and hearing impairment.

Objective: The purpose of this study is to determine whether a novel, user-friendly rating system, visual sort and rate (VSR) provides comparable ratings to the currently used direct magnitude estimation (DME) rating system for rating perceptions of audible nasal emission (ANE) and hypernasality in cleft palate speakers. Methods: Twelve naïve listeners rated 152 speech samples of speakers with cleft palate across four conditions: rating hypernasality and ANE using either a VSR or DME rating scale. Raters were provided with a short training session, prior to rating each day. Inter- and intra-rater reliabilities, as well the line of best fit between scores using VSR and scores using DME was calculated to determine usability of VSR as a novel rating system. Results: Direct magnitude estimation resulted in the highest levels of inter-rater reliability, when rating hypernasality (DME r= .48; VSR r=.14), as well as ANE (DME r= .27; VSR r=.15). Most raters demonstrated high intra-rater reliabilities across conditions. A curvilinear line of best fit most accurately captured the relationship between DME and VSR scores when rating hypernasality (r=.64) and ANE (r=.66). Conclusions: A curvilinear relationship between ratings suggests that both variables are prothetic, and therefore, best captured using a DME rating scale (Eadie & Doyle, 2002). The use of DME is supported for continued use rating hypernasality, even amongst naïve listeners given a training session. Rating ANE was difficult, as ratings yielded low inter-rater reliabilities, regardless of the scale used. Further research regarding perceptions of audible nasal emission is warranted.

The toxic interaction of caffeine and phenytoin during pregnancy was investigated in mice of the ICR strain on E10 of gestation. Caffeine, over a range of dosages, showed limited embryotoxic activity. Phenytoin was also weakly teratogenic and dosages needed to elicit embryotoxicity were accompanied by a significant increase in maternal lethality. Pretreatment with caffeine enhanced phenytoin-induced toxicity and teratogenicity and these observations confirm that caffeine has the ability to function as a coteratogen. Pretreatment with phenytoin produced a significant increase in maternal lethality following caffeine administration but no co-teratogenic effect. It is suggested that these results are the consequence of a yet undefined interaction at critical receptor sites in the maternal-embryo unit.

Speech-language impairment is one of the most common clinical features in velocardiofacial syndrome (VCFS). This report describes the speech and language development of four children with VCFS studied longitudinally from 6 to 30 months of age and compares their performance with three groups of children: (1) normally developing children, (2) children with cleft lip and palate, and (3) children with isolated cleft palate. The data show that young children with VCFS show a receptive-expressive language impairment from the onset of language. Further, speech and expressive language development were severely delayed beyond a level predicted by their other developmental or receptive language performance. The children with VCFS showed severe limitations in speech sound inventories and early vocabulary development that far exceeded those shown by the children with cleft lip and palate and children with isolated cleft palate. This study indicates that young children with VCFS emerge from a critical speech and language learning period with severe limitations in their communicative abilities. Further studies are required to describe the later course of these early speech and language impairments and to explore the relationship to learning disabilities described for older children with VCFS.

Indiana University-Purdue University Indianapolis (IUPUI) / Obturator therapy has been proposed for many years as an aid in maxillary orthopedics for the complete unilateral cleft lip and palate infant. The obturator appliance had the added benefit of providing a false palate against which the infant can suckle. This has aided in the feeding of these infants to assure adequate nutrition with the least effort for parent and child. The current study assessed three aspects of obturator therapy at James Whitcomb Riley Hospital for Children, Indianapolis, Indiana. Parental evaluations of the obturator proved to be very positive. Almost all parents (96%) rated it as beneficial and would recommend its use to other parents with cleft lip and palate infants. Weight gain analysis over the first nine months of life demonstrated that these infants were only slightly below the average for birth weight. At three and nine months of age, a number (69% and 56% respectively) had maintained their original weight percentile rankings or had just dropped into the next lower category. Thus, many of the infants were able to achieve adequate nutrition, a problem noted by many authors when obturator therapy was not used. It should be emphasized that each infant underwent either one or two major surgical procedures during this time period. Arch symmetry assessments at one, four and ten months showed a gradual reduction in lateral posterior crossbite, canine crossbite, and anterior crossbite tendency. Although the arches still showed some collapse at the end of ten months of age, the pattern was much better than at initial presentation with values much closer to normal. Improvements in arch symmetry was expected as the maxilla grew. From the results of this study, obturator therapy appears to be beneficial in maxillary orthopedics by helping to maintain adequate weight gain and gain parental acceptance.

No description available.

Indiana University-Purdue University Indianapolis (IUPUI) / This investigation examined the relationship of the self-concept of children with cleft lip and palate to the self-concept of non-cleft children. Fifty cleft lip and palate children between the ages of eight and 18 were individually matched by age, sex and race with 50 non-cleft children. Each child was given the Piers-Harris Children's Self-Concept Scale. Children with clefts, regardless of sex, reported significantly lower global self-concept than non-cleft subjects (p < .005). Further significant differences between cleft and non-cleft subjects were found in five of six cluster scores. These included: behavior (p < .05), school status (p < .05), popularity (p < .05), happiness and satisfaction (p < .001), and physical attributes and appearance (p < .001). A significant effect (p < .01), was found on the popularity score, with cleft males feeling less popular than their non-cleft peers. A significant effect was also found on the anxiety score, with cleft females reporting significantly more anxiety (p < .01) than their non-cleft peers. A questionnaire was completed by the parents of the cleft and non-cleft subjects evaluating their child's relationship with family, peers and progress in school. In general, parents of both groups reported positive ratings of their child's social interactions. Parents of cleft. . subjects reported more negative responses than the parents of non-cleft subjects concerning the teasing the child experiences because of his/her facial appearance (p < .05) and the effect that the child's facial appearance had on progress in school (p < .05).

No description available.