Kathy Chapman

Bio: Kathy Chapman is an academic researcher from University of Utah. The author has contributed to research in topics: Trait & Genetic linkage. The author has an hindex of 6, co-authored 11 publications receiving 361 citations. Previous affiliations of Kathy Chapman include Purdue University.

Timing of Palatal Surgery and Speech Outcome

Abstract: Objective: To examine the impact of age and lexical status at the time of primary palatal surgery on speech outcome of preschoolers with cleft palate. Participants: Forty children (33 to 42 months) with nonsyndromic cleft palate participated in the study. Twenty children (Group 1) were less lexically advanced and younger (mean age = 11 months) and 20 children (Group 2) were more lexically advanced and older (mean age = 15 months) when palatal surgery was performed. Main Outcome Measures: Samples of the children's spontaneous speech were compared on 11 speech production measures (e.g., size of consonant inventory, total consonants correct, % correct for manner of articulation categories, compensatory articulation usage, etc.). Next, listeners rated a 30-second sample of each child's connected speech for articulation proficiency and hypernasality, separately, using direct magnitude estimation (DME). Results: Group differences were noted for 4 of the 11 speech production measures. Children in Gr...

A Standard Set of Outcome Measures for the Comprehensive Appraisal of Cleft Care

Abstract: Care of the patient with cleft lip and/or palate remains complex. Prior attempts at aggregating data to study the effectiveness of specific interventions or overall treatment protocols have been hindered by a lack of data standards. There exists a critical need to better define the outcomes-particularly those that matter most to patients and their families-and to standardize the methods by which these outcomes will be measured. This report summarizes the recommendations of an international, multidisciplinary working group with regard to which outcomes a typical cleft team could track, how those outcomes could be measured and recorded, and what strategies may be employed to sustainably implement a system for prospective data collection. It is only by agreeing on a common, standard set of outcome measures for the comprehensive appraisal of cleft care that intercenter comparisons can become possible. This is important for quality-improvement endeavors, comparative effectiveness research, and value-based health-care reform.

The Relationship between Early Reading Skills and Speech and Language Performance in Young Children with Cleft Lip and Palate

Abstract: Objective: To examine the early reading skills of young children with cleft lip and palate and to examine the relationship between early reading skills and speech and language performance. Participants: A total of 56 children participated in the study: 28 children with cleft lip and palate and 28 noncleft children matched for age (mean age, 5 years 7 months), gender, and months of formal schooling. Main Outcome Measures: The two groups of children were compared (t tests) on the Test of Early Reading‐3. Pearson product moment correlations were performed to examine separately the relationship between early reading skills and speech production abilities and between early reading skills and receptive and expressive language abilities for the two groups. Results: Statistically significant group differences were noted on the Test of Early Reading‐3. The mean score of 99 obtained by the group of children with cleft lip and palate was within normal limits compared with the norms for the Test of Early Reading‐3; h...

Genetic Candidate Variants in Two Multigenerational Families with Childhood Apraxia of Speech

Abstract: Childhood apraxia of speech (CAS) is a severe and socially debilitating form of speech sound disorder with suspected genetic involvement, but the genetic etiology is not yet well understood. Very few known or putative causal genes have been identified to date, e.g., FOXP2 and BCL11A. Building a knowledge base of the genetic etiology of CAS will make it possible to identify infants at genetic risk and motivate the development of effective very early intervention programs. We investigated the genetic etiology of CAS in two large multigenerational families with familial CAS. Complementary genomic methods included Markov chain Monte Carlo linkage analysis, copy-number analysis, identity-by-descent sharing, and exome sequencing with variant filtering. No overlaps in regions with positive evidence of linkage between the two families were found. In one family, linkage analysis detected two chromosomal regions of interest, 5p15.1-p14.1, and 17p13.1-q11.1, inherited separately from the two founders. Single-point linkage analysis of selected variants identified CDH18 as a primary gene of interest and additionally, MYO10, NIPBL, GLP2R, NCOR1, FLCN, SMCR8, NEK8, and ANKRD12, possibly with additive effects. Linkage analysis in the second family detected five regions with LOD scores approaching the highest values possible in the family. A gene of interest was C4orf21 (ZGRF1) on 4q25-q28.2. Evidence for previously described causal copy-number variations and validated or suspected genes was not found. Results are consistent with a heterogeneous CAS etiology, as is expected in many neurogenic disorders. Future studies will investigate genome variants in these and other families with CAS.

Deficits in sequential processing manifest in motor and linguistic tasks in a multigenerational family with childhood apraxia of speech

Abstract: The purpose of this study was to evaluate a global deficit in sequential processing as candidate endophenotypein a family with familial childhood apraxia of speech (CAS). Of 10 adults and 13 children in a three-generational family with speech sound disorder (SSD) consistent with CAS, 3 adults and 6 children had past or present SSD diagnoses. Two preschoolers with unremediated CAS showed a high number of sequencing errors during single-word production. Performance on tasks with high sequential processing loads differentiated between the affected and unaffected family members, whereas there were no group differences in tasks with low processing loads. Adults with a history of SSD produced more sequencing errors during nonword and multisyllabic real word imitation, compared to those without such a history. Results are consistent with a global deficit in sequential processing that influences speech development as well as cognitive and linguistic processing.

Palatoplasty outcomes in nonsyndromic patients with cleft palate: a 29-year assessment of one surgeon's experience.

Abstract: The primary objective of cleft palate repair is velopharyngeal competence without fistula. The reported incidence of fistula and velopharyngeal insufficiency (VPI) is variable. Our purpose was to assess the senior surgeon's 29-year palatoplasty experience with respect to incidence of fistula and VPI. Our hypotheses were that VPI is related to (1) age at palatoplasty, (2) cleft palate type, and (3) VPI and palatal fistula incidence decrease with the surgeon's experience. We reviewed the records of all children with cleft palate treated by the senior author between 1976 and 2004. Cleft palate was categorized according to Veau. Palatoplasty was performed on 449 patients, using a 2-flap technique with muscular retropositioning. The mean age at palatoplasty was 11.6 +/- 4.9 months (range, 7.0-46.4 months). The incidence of palatal fistula was 2.9%, and velopharyngeal sufficiency was found in 85.1% of patients. We found a significant association between age at palatoplasty and VPI (P = 0.009, odds ratio, 1.06 [95% confidence interval, 1.02-1.10]). Velopharyngeal insufficiency was also associated with the Veau hierarchy (P = 0.001). Incidence of VPI was independent of surgeon experience (P = 0.2). In conclusion, the incidence of palatal fistula was low. Velopharyngeal insufficiency was associated with increasing age at palatoplasty and with the Veau hierarchy.

Understanding language from a genomic perspective

Abstract: Language is a defining characteristic of the human species, but its foundations remain mysterious. Heritable disorders offer a gateway into biological underpinnings, as illustrated by the discovery that FOXP2 disruptions cause a rare form of speech and language impairment. The genetic architecture underlying language-related disorders is complex, and although some progress has been made, it has proved challenging to pinpoint additional relevant genes with confidence. Next-generation sequencing and genome-wide association studies are revolutionizing understanding of the genetic bases of other neurodevelopmental disorders, like autism and schizophrenia, and providing fundamental insights into the molecular networks crucial for typical brain development. We discuss how a similar genomic perspective, brought to the investigation of language-related phenotypes, promises to yield equally informative discoveries. Moreover, we outline how follow-up studies of genetic findings using cellular systems and animal models can help to elucidate the biological mechanisms involved in the development of brain circuits supporting language.

Neuropsychological, behavioral, and academic sequelae of cleft: early developmental, school age, and adolescent/young adult outcomes.

Abstract: This article reviews behavioral, neuropsychological, and academic outcomes of individuals with cleft across three age levels: (1) infancy/early development, (2) school age, and (3) adolescence/young adulthood. The review points out that attachment, neurocognitive functioning, academic performance/learning, and adjustment outcomes are the result of a complex interaction between biological and environmental factors and vary with developmental level, sex, and craniofacial anomaly diagnosis. The degree to which associated genetic or neurodevelopmental conditions may explain inconsistent findings is unknown and suggests the need for caution in generalizing from group data on cleft.

The Cleft Care UK study. Part 4: perceptual speech outcomes

Abstract: During the 1980s, the Eurocleft study showed that many aspects of care and some outcomes of treatment in two UK centres fell below those of European Centres such as Oslo in Norway 1. The Clinical Standards Advisory Group (CSAG) study determined multidisciplinary outcomes of children born with unilateral complete cleft lip and palate (UCLP) at the ages of five and twelve years 2–5. Some outcomes were poor, and this included speech 4. They reported that the speech in 19% of five-year-olds and 4% of twelve-year-olds was judged to be impossible to understand or only just intelligible to strangers. Thirty-four per cent of five-year-olds and 17% of twelve-year-olds had at least one serious error of consonant production. Eighteen per cent of five-year-olds and twelve-year-olds had consistent hypernasality of mild, moderate or severe degree. The centralization of services after the publication of the CSAG report means that most centres treat more than 60 new cleft babies each year [range, 45 (Northern Ireland) to 151 (North Thames)] 6. The increased numbers of children treated in each centre have also supported the development of a specialized workforce in all disciplines. More meaningful audit of outcomes is also possible with the larger numbers treated in each centre. In response to these audit requirements, the Cleft Audit Protocol for Speech–Augmented (CAPS-A) was developed and validated as a tool for speech audit studies 7. More recently, NHS England (2013) has produced a National Service Specification for Cleft Lip and/or Palate services which is a framework for uniformity of care provision 8. By the age of five years, the expectation in the non-cleft population is that the acquisition of speech sounds should be more or less complete 9. This is also the time at which children in the UK go to primary school with a target that they should have ‘normal’ speech, which does not draw comment from their peers or teachers. However, children with cleft palate ± lip are at high risk of speech difficulties 10–12. These can be broadly described in two problem areas. The first are structurally related difficulties which include hypernasality, nasal airflow (abnormal nasal emission or nasal turbulence on consonant sounds), weak nasalized consonants and the excessive use of nasal consonants. The latter are known as passive characteristics 7,13. These speech characteristics are usually the result of velopharyngeal insufficiency (VPI) and/or a fistula after primary palate repair. A percentage of children who have their cleft palate repaired will have velopharyngeal insufficiency, but this is not predictable to the individual 14–16. The second possible speech difficulty is the incorrect production of speech sounds (consonants) referred to as cleft speech characteristics (CSCs). These can be divided into anterior oral CSCs, for example palatal or lateral errors, posterior oral CSCs where sounds are produced further back in the oral cavity, for example /t/ is produced as /k/, non-oral CSCs where consonant sounds are produced even further back in the larynx, pharynx or velopharynx. Many of these, such as glottal and pharyngeal CSCs, may be the result of early mislearning and are often associated with velopharyngeal insufficiency. Such errors persist even after successful secondary speech surgery and speech therapy intervention is required. These speech disorders frequently reduce intelligibility and acceptability 17. When such speech disorders persist beyond 5 years of age, there can be far-reaching consequences for communication, literacy and psychosocial well-being 18–21. Secondary speech surgery and/or fistula closure is usually needed to correct structurally related speech difficulties. Speech therapy is needed to address some of the anterior, posterior and non-oral cleft speech characteristics. Children with cleft palate are also at risk of speech disorders for other reasons, such as intermittent conductive hearing loss, most typically caused by glue ear 22,23. In addition, they are vulnerable, like any other child to other factors such as the lack of a stimulating environment, family history of speech difficulties and expressive language delay, which can also impact speech performance at 5 years. The aim of this study was to determine the perceptual speech outcomes of children included in the CCUK study and to compare these with speech outcomes reported in the CSAG study 5.

A cross-sectional cohort study of speech in five-year-olds with cleft palate ± lip to support development of national audit standards: benchmarking speech standards in the United Kingdom.

Abstract: Objective: To develop national standards for speech outcomes and processes of care for children with cleft palate ± lip and to test the standards using national data. Design, Setting, and Participants: In this large, multicenter, prospective cohort study, speech recordings of 1110 five-year-olds with cleft palate involvement (born 2001 to 2003) were collected by 12 cleft centers in Great Britain and Ireland. Recordings were analyzed by consensus by specialist speech and language therapists using the Cleft Audit Protocol for Speech–Augmented. Results were benchmarked against evidence-based process and speech outcome standards and statistical analysis undertaken. Results: From the 1110 children audited, 48% (530) had speech within the normal range. This was not significantly different from the agreed standard of 50% (P = .20, CI = 45–50%). Sixty-six percent (734) had speech with no evidence of structurally related speech problems or history of speech-related secondary surgery. This was significantly below t...