bluuebunny/crossref_metadata_2025_split huggingface dataset:
Spontaneous Regulation of Emotions in Preschool Children Who Stutter: Preliminary Findings
Authors: Johnson Kia N. , Walden Tedra A. , Conture Edward G. , Karrass Jan 
Published: July 2010

PurposeEmotional regulation of preschool children who stutter (CWS) and children who do not stutter (CWNS) was assessed through use of a disappointing gift (DG) procedure (P. M. Cole, 1986; C. Saarni, 1984, 1992).MethodParticipants consisted of 16 CWS and CWNS (11 boys and 5 girls in each talker group) who were 3 to 5 years of age. After assessing each child’s knowledge of display rules about socially appropriate expression of emotions, the authors asked the children to participate in a DG procedure. The children received a desirable gift preceding the first free-play task and a disappointing gift preceding a second free-play task. Dependent variables consisted of participants' positive and negative expressive nonverbal behaviors exhibited during receipt of a desirable gift and disappointing gift as well as conversational speech disfluencies exhibited following receipt of each gift.ResultsFindings indicated that CWS and CWNS exhibited no significant differences in amount of positive emotional expressions after receiving the desired gift; however, CWS—when compared with CWNS—exhibited more negative emotional expressions after receiving the undesirable gift. Furthermore, CWS were more disfluent after receiving the desired gift than after receiving the disappointing gift. Ancillary findings also indicated that CWS and CWNS had equivalent knowledge of display rules.ConclusionFindings suggest that efforts to concurrently regulate emotional behaviors and that speech disfluencies may be problematic for preschool-age CWS.
Auxiliary BE Production by African American English–Speaking Children With and Without Specific Language Impairment
Authors: Garrity April W. , Oetting Janna B. 
Published: July 2010

Purpose

To examine 3 forms (
am,
is,
are
) of auxiliary BE production by African American English (AAE)–speaking children with and without specific language impairment (SLI).

Method
Thirty AAE speakers participated: 10 six-year-olds with SLI, 10 age-matched controls, and 10 language-matched controls. BE production was examined through samples and a probe.

Results

Across tasks, visual inspection suggested that the children with SLI overtly marked BE at lower rates than the controls, and all groups marked
am
at higher rates than
is
and
are,
with few dialect-inappropriate errors. Within the samples, the children also overtly marked
is
at higher rates when preceded by
it
/
that
/
what
than when it was preceded by a personal pronoun. A subset of these results was confirmed statistically. The children’s marking of BE also varied across tasks; for the age-matched controls, this variation was tied to their AAE dialect densities.

Conclusions
These findings show across-dialect similarities and differences between children’s acquisition of AAE and mainstream American English. Similarities involve the rate of the children’s BE marking as a function of their clinical status and the nature of their dialect-inappropriate errors. Differences involve the children’s rates of BE marking as a function of the form, context, and task.
Relation of Vocal Tract Shape, Formant Transitions, and Stop Consonant Identification
Authors: Story Brad H. , Bunton Kate 
Published: July 2010

Purpose
The present study was designed to investigate the relation of formant transitions to place-of-articulation for stop consonants. A speech production model was used to generate simulated utterances containing voiced stop consonants, and a perceptual experiment was performed to test their identification by listeners.

Method
Based on a model of the vocal tract shape, a theoretical basis for reducing highly variable formant transitions to more invariant formant deflection patterns as a function of constriction location was proposed. A speech production model was used to simulate vowel–consonant–vowel (VCV) utterances for 3 underlying vowel–vowel contexts and for which the constriction location was incrementally moved from the lips toward the velar part of the vocal tract. These simulated VCVs were presented to listeners who were asked to identify the consonant.

Results
Listener responses indicated that phonetic boundaries were well aligned with points along the vocal tract length where there was a shift in the deflection polarity of either the 2nd or 3rd formant.

Conclusions
This study demonstrated that regions of the vocal tract exist that, when constricted, shift the formant frequencies in a predictable direction. Based on a perceptual experiment, the boundaries of these acoustically defined regions were shown to coincide with phonetic categories for stop consonants.

Supplemental Material

https://doi.org/10.23641/asha.6170348
Mood and Substance Use Disorders Among Adults Seeking Speech Treatment for Stuttering
Authors: Iverach Lisa , Jones Mark , O’Brian Sue , Block Susan , Lincoln Michelle , Harrison Elisabeth , Hewat Sally , Menzies Ross G. , Packman Ann , Onslow Mark 
Published: July 2010

Objectives
Stuttering has been associated with a range of anxiety disorders, including social phobia. In the general community, anxiety disorders are frequently associated with increased rates of mood and substance use disorders. Therefore, in the present study, the authors sought to determine the rate of mood and substance use disorders among adults who stutter.

Method
The study employed a matched case–control design. Participants included 92 adults seeking treatment for stuttering and 920 age- and gender-matched controls. Mental health assessments were conducted via a computerized psychiatric diagnostic interview. Conditional logistic regression models were used to estimate odds ratios for the prevalence of mood and substance use disorders in both groups.

Results
When compared with matched controls, adults seeking treatment for stuttering had twofold increased odds of meeting criteria for a 12-month diagnosis of any mood disorder but were not found to report significantly higher lifetime prevalence rates for any substance use disorder.

Conclusions
Although adults who stutter in the present study were characterized by significantly higher rates of mood disorders than matched controls, they do not appear to self-medicate with substances such as alcohol. Results are discussed in terms of treatment implications and possible reasons why adults who stutter may avoid alcohol.
The Impact of Vocal Hyperfunction on Relative Fundamental Frequency During Voicing Offset and Onset
Authors: Stepp Cara E. , Hillman Robert E. , Heaton James T. 
Published: July 2010

Purpose
This study tested the hypothesis that individuals with vocal hyperfunction would show decreases in relative fundamental frequency (RFF) surrounding a voiceless consonant.

Method

This retrospective study of 2 clinical databases used speech samples from 15 control participants and women with hyperfunction-related voice disorders: 82 prior to treatment (muscle tension dysphonia,
n
= 22; vocal fold nodules,
n
= 30; vocal fold polyps,
N
= 30) and 18 before and after surgical removal of vocal fold nodules or polyps. Acoustic samples were analyzed with respect to the RFF at the offset and onset of voicing surrounding a voiceless consonant.

Results
Individuals with vocal hyperfunction in a large clinical sample showed significant lowering of offset and onset RFF compared with controls. Voicing offset and onset RFFs were not significantly changed by the removal of vocal fold lesions in the surgical group.

Conclusions
Altered offset and onset RFF in patients with hyperfunction-related voice disorders can be interpreted as a by-product of heightened levels of laryngeal muscle tension. Measurement of RFF during voice offset and onset has potential for use as a simple, noninvasive measure of vocal hyperfunction.
Burns in young children: a retrospective matched cohort study of health and developmental outcomes
Authors: Hutchings H. , Barnes P. M. , Maddocks A. , Lyons R. , James‐Ellison M. Y. 
Published: July 2010

AbstractBackground  Unintentional injuries are a major cause of death and disability in childhood. Most burns are unintentional, the majority occurring in pre‐school children. Little is known about the outcomes of young children following burns. The purpose of this study was to examine the presenting features of burned children and compare their health and developmental outcomes with controls.Methods  Children under 3 years admitted to the Welsh Regional Burns Centre between September 1994 and August 1997 were studied up to their sixth birthday (final data collection 2003) to ascertain the nature, course and cause of their burn. One hundred and forty‐five burned children were matched with 145 controls. Their physical, psychosocial and educational health status was compared. Retrospective data were gathered from hospital notes, social services, emergency department databases, child health surveillance records and schools.Results  Burns peaked at age 13–18 months were typically sustained by scalding, drink spillage and contact with hot objects. They occurred most frequently at mealtimes and 89.7% were judged to be unintentional. There was a high rate of non‐attendance for follow‐up – 24%. The families of children admitted with burns were more likely to have moved home than those of controls (P = 0.001). By age 6 significantly more cases were admitted to hospital with an unrelated condition (P = 0.018). There were no differences between the cases and controls in immunization status, development, school attendance and educational progress up to the age of 6 years (P > 0.05).Conclusions  We found important findings in relation to unintentional injury prevention and also noted markers that may indicate inequalities in health service utilization between cases and controls. There were no major differences between developmental and educational outcomes in the two groups.
Relationship between clinical characteristics of narcolepsy and CSF orexin‐A levels
Authors: NAKAMURA MASAKI , KANBAYASHI TAKASHI , SUGIURA TATSUKI , INOUE YUICHI 
Published: July 2010

SummaryAlthough an abnormally low cerebrospinal fluid (CSF)‐orexin level is well known to be a specific finding in narcoleptic patients, the relationships between the severity of the core symptoms of narcolepsy [i.e. daytime sleepiness and increased rapid eye movement (REM) propensity], as well as levels of obesity, and CSF‐orexin levels have not been well elucidated. The aim of this study was to examine the relationship between these characteristic symptoms of narcolepsy and CSF‐orexin level. Fifty‐three patients with narcolepsy with cataplexy (NA/CA) and 17 without cataplexy (NA w/o CA) were enrolled. Sleep latency and sleep onset REM latency were measured using the multiple sleep latency test (MSLT). Multiple linear regression analysis was used to determine factors associated with both mean sleep latency and mean sleep onset REM latency on MSLT, with %body mass index (BMI), gender, onset age, length of excessive daytime sleepiness (EDS) morbidity, diagnostic subgroup and CSF‐orexin levels being used as independent variables. The NA/CA group included a significantly higher number of patients with undetectable CSF‐orexin levels and shorter sleep onset and rapid eye movement (SOREM) latency, as well as a higher %BMI, versus NA w/o CA. Multiple linear regression analysis revealed that sleep latency was associated significantly with CSF‐orexin levels and gender. With regard to sleep onset REM latency and %BMI, only CSF‐orexin levels appeared to be a significantly associated factor. In narcoleptic patients, the severity of both excessive daytime sleepiness and increased REM propensity, as well as the level of obesity, could be associated with CSF‐orexin deficiency, rather than with subcategories of the disorder.
Phytoplasma PMU1 exists as linear chromosomal and circular extrachromosomal elements and has enhanced expression in insect vectors compared with plant hosts
Authors: Toruño Tania Y. , Seruga Musić Martina , Simi Silvia , Nicolaisen Mogens , Hogenhout Saskia A. 
Published: July 2010

SummaryPhytoplasmas replicate intracellularly in plants and insects and are dependent on both hosts for dissemination in nature. Phytoplasmas have small genomes lacking genes for major metabolic pathways. Nevertheless, their genomes harbour multicopy gene clusters that were named potential mobile units (PMUs). PMU1 is the largest most complete repeat among the PMUs in the genome of Aster Yellows phytoplasma strain Witches' Broom (AY‐WB). PMU1 is c. 20 kb in size and contains 21 genes encoding DNA replication and predicted membrane‐targeted proteins. Here we show that AY‐WB has a chromosomal linear PMU1 (L‐PMU1) and an extrachromosomal circular PMU1 (C‐PMU1). The C‐PMU1 copy number was consistently higher by in average approximately fivefold in insects compared with plants and PMU1 gene expression levels were also considerably higher in insects indicating that C‐PMU1 synthesis and expression are regulated. We found that the majority of AY‐WB virulence genes lie on chromosomal PMU regions that have similar gene content and organization as PMU1 providing evidence that PMUs contribute to phytoplasma host adaptation and have integrated into the AY‐WB chromosome.
Generation of the heterodimeric precursor GP3 of the Chlamydomonas cell wall
Authors: Voigt Jürgen , Kieß Michael , Getzlaff Rita , Wöstemeyer Johannes , Frank Ronald 
Published: July 2010

SummaryThe cell wall of the unicellular green alga Chlamydomonas reinhardtii exclusively consists of hydroxyproline‐containing glycoproteins. Protein chemical analysis of its polypeptide constituents was hindered by their cross‐linking via peroxidase‐catalysed intermolecular isodityrosine formation and transaminase‐dependent processes. To overcome this problem, we have identified putative soluble precursors using polyclonal antibodies raised against deglycosylation products of the highly purified insoluble wall fraction and analysed their amino acid sequence. The occurrence of the corresponding polypeptide in the insoluble glycoprotein framework was finally probed by epitope mapping of the polyclonal antibodies using overlapping scan peptides which, together, cover the whole amino acid sequence of the putative precursor. As a control, peptide fragments released from the insoluble wall fraction by trypsin treatment were analysed by mass spectroscopy. By this approach, the heterodimeric, chaotrope‐soluble glycoprotein GP3 proved to be a constituent of the insoluble extracellular matrix of Chlamydomonas reinhardtii. Furthermore, we have shown that the polypeptide backbones of both GP3 subunits are encoded by the same gene and differ by a C‐terminal truncation in the case of GP3A.
More about X‐linked testicular feminization of the mouse as a noninducible (is) mutation of a regulatory locus: 5α‐androstan‐3α‐17ß‐diol as the true inducer of kidney alcohol dehydrogenase and ß‐glucuronidase
Authors: Ohno Susumu , Dofuku Ryuichi , Tettenborn Ulrich 
Published: July 2010

A comparison of various androgenic steroids on +/Y ♂ and +/+♀ mice suggested that 5α‐an‐drostan‐3α‐17β‐diol, an intracellular metabolite of 5α‐dihydrotestosterone, is the true inducer of kidney alcohol dehydrogenase and β‐glucuronidase. The presence of a specific receptor protein (permease) for this inducer is doubtful. Instead, proximal tubule cells of the kidney appear to take in precursors of an inducer by pinocytosis. Only those cells which exhibit pinocytosis activity are inducible cells. It is suggested that an inducer reaches the cells of the embryonic Wolffian (mesonephric) duct in the same manner.No induction of kidney ADH and β‐glucuronidase occurred in Tfm/Y mice following the administration of 5α‐androstan‐3α‐17β‐diol.
Incidence of cleft lip and palate in the offspring of cleft parents
Authors: Bixler David , Fogh‐Andersen P. , Conneally P. Michael 
Published: July 2010

The results of this study support the idea that CL(P) is a polygenic trait. Furthermore, employing the calculations of Edwards, there was little evidence for major gene effects. The sex‐modified threshold concept which has been made an integral part of the CL(P) polygenic model was not entirely confirmed by these data.These data show an affected offspring risk for CP parents of both sexes of about 6 %. Although Edward's calculations failed to provide evidence for major gene effects in CP, there was an unexplained five‐fold difference between CP frequency in offspring and sibs which needs further study.
Lysinuric protein intolerance, an autosomal recessive disease
Authors: Norio R. , Perheentupa J. , Kekomäki M. , Visakorpi J. K. 
Published: July 2010

Lysinuric protein intolerance (LPI) is characterized by failure to thrive, diarrhea and vomiting associated with protein intake, aversion to protein‐rich food, growth retardation, hepatomegaly, hyperammonemia, and deficient urea formation after an amino nitrogen load, and increased urinary excretion of basic amino acids, especially lysine. LPI has been diagnosed in 16 patients of 10 families in Finland and in one Finnish immigrant in Sweden. In this study data were evaluated to test the autosomal recessive transmission of LPI.In 6 families out of 10 the occurrence was familial. The sex ratio of those affected was 6 : 10. The proportion of affected sibs, corrected by Apert's a priori method, was 0.26. In 5 families the parental marriage was consanguineous, and in two groups of two families all four parents were descendants of one ancestor pair. The geographical distribution of the LPI ancestors was uneven as is true for many rare recessive diseases in Finland. No heterozygous effects of the LPI gene could be detected with certainty. These finclings constitute evidence in favor of the autosomal recessive transmission of LPI.
A genetic and statistical study of some sex‐related factors in Huntington's disease
Authors: Brackenridge C.L. 
Published: July 2010

From an analysis of published sibships containing at least one subject with Huntington's disease, evidence was obtained from segregation ratios derived from several hypothetical modes of ascertainment that single‐membered sibships are less likely to be recorded than those containing at least two affectcd persons and that the probability of reporting a sibship is proportional to the number of affected siblings.Familial sex‐limitation and partial sex‐linkage could not be detected in the sample. Investigation of parental and grandparcntal lines ol transmission revealed that patrilineal descent predominated for all subjccts except unaffected daughters. Mcan ages at onset and death wcrc independent of the 5ex of the subject or the tranymitting parent. On the other hand, the offspring of affected males suffered from the disorder for a shorter period of time than offspring of affccted females. Ages at onsct and death varied significantly from generation to generation, presumably because parents are ofren ascertained through their children in the literature and the phenomenon of anticipation thereby arises. Onset age was earlier in members of small sihships than in those of large sibships. This could be related to the earlier onset age of parents producing small families compared with those producing large families.
Prevalence of chromosome abnormalities among males examined for military service
Authors: Zeuthen Eva , Nielsen Johannes 
Published: July 2010

A prevalence study of chromosome abnormalities in a Danish male population of 3,840 conscripts showed a total prevalence for chromosome abnormalities of 4.6Y per 1,000. Only males with small testes, males with a stature >181 cm and mentally retarded males were examined. The prevalence can thus only be expected to be complete for sex chromosome abnormalities and chromosome abnormalities in persons with a mental retardation.The prevalence of males with 47, XXY was 0.78 per 1,000 and males with 47, XYY as well as males with 47, XY, f21 were round in 1.30 per 1,000.The prevalence of autosomal marker chromosomes was 5.4 per 1,000, and the prevalence of large Y was 3.9%.
Chromosome studies in 5,049 consecutive newborn children
Authors: Friedrich Ursula , Nielsen Johannes 
Published: July 2010

Data from a chromosome examination of 5,049 consecutive newborn children are presented. Major chromosome abnormalities were found in 43 (0.85 %) children.Only 6 of the 43 children were phenotypically abnormal to the extent that they could be diagnosed clinically; these six comprised a girl with Turner's syndrome, a boy with Patau's syndrome and four boys with Down's syndrome. It was remarkable that two male infants with karyo‐types 46,XY,12p‐ and 46,XY/46,XY,5p‐ were normally developed.Chromosome variants (marker chromosomes) occurred in 87 (1.72 %) of the children. The most common marker chromosomes were Yq+, Yq‐, Dp+ or Ds+ and Gp+ or Gs+ very little is known about the significance of marker chromosomes.Chromosome examination in newborn children gives the possibility of procuring incidence figures, finding families with translocations, studying segregation rates and giving genetic advice. Follow up studies of children with chromosome abnormalities and marker chromosomes compared with controls as well as treatment of children with chromosome abnormalities whenever possible are also important aspects of such studies.
Theoretical implications of the application of polymorphic protein systems to gene location on a trisomic chromosome, and its application to the haptoglobin phenotype frequencies in Down's syndrome
Authors: Rundle A. T. 
Published: July 2010

In this, the first of a series of communications on the application of the study of polymorphic enzyme and protein systems to gene location on a trisomic chromosome, the theoretical implications are considered. Mathematical models for the expected phenotype shift have been examined, and have been expanded to include a three‐allele locus and a three‐allele locus with one allele being of the ‘silent’ variety. Some modifications in the existing mathematical models were necessary due to possible failure of electrophoretic and immuno‐electrophoretic separations to differentiate between some heterozygote forms. The mathematical models have been applied to a series of hi‐allelic polymorphic systems and one tri‐allelic system to determine the minimum number of subjets with trisomy that would be required to establish the presence or absence of a phenotype shift. The additional use of the techniques for estimating the position of the gene with respect to the centromere, and estimating the timing of the non‐disjunction are discussed.The application of Haldane's log ratio test (1956) involving the combining of the homozygous Corms is considered and applied to the phenotype data on the serum haptoglobins of 254 subjects with Down's syndrome and 853 mentally retarded control subjects.
Bisatellited extra small metacentric chromosome in newborns
Authors: Friedrich Ursula , Nielsen Johannes 
Published: July 2010

Among 5,049 consecutive liveborn children in a Danish maternity hospital, three had an extra small bisatellited metacentric chromosome, apparently an isochromosome of the short arms of a D or G group chromosome. In two of the probands' families, the deviating chromosome was inherited through three generations. One proband was a mosaic; her grandmother, mother and one sister had the karyotype 46, XX,9qh+; one of her brothers had the karyotype 46, XY,9qh+, and he had one daughter with the karyotype 46, XX,9qh+ and another daughter who was 45, X.All the carriers of an extra metacentric chromosome were normally developed, except one proband who died shortly after birth and displayed multiple, internal congenital abnormalities.
A case with 46, XX, del (11) (q21)
Authors: Faust J. , Vogel W. , Löning B. 
Published: July 2010

The cytogenetic analysis of a child with unspecific dysplastic signs revealed the karyotype: 46, XX, del(11) (q21). Two hypotheses could explain the mild phenotypical expression of this deletion:1) The material of the deficient part of chromosome 11 is genetically inert or redundant (which seems unlikely);2) “Gene‐dosis‐compensation” occurs for the loss of genes on the deficient part of chromosome 11.