Browsing by Person "Clark, Ann"

Now showing 1 - 20 of 20

Awareness of and support for speech, language and communication needs in Children’s Hearings
(CELCIS (Centre for Excellence for Looked After Children in Scotland), 2018-12-18) Clark, Ann; Fitzsimons, Dermot
Looked-after children commonly experience speech, language and communication needs (SLCN) (McCool & Stevens, 2011; Department for Education, 2017). Unidentified and unmet SLCN have negative effects on children’s educational attainment as well as social, emotional and mental health (Law, Rush, Parsons & Schoon, 2009). In Scotland, the institutional body with primary responsibility to address the needs of looked-after children is Children’s Hearings Scotland (CHS). The focal means of decision-making is the Hearing. Previous FOI requests showed very few referrals from the Hearings to SLT services (Clark & Fitzsimons, 2016). Panel Members’ and Children’s Reporters’ views on children’s SLCN and on support for these needs in Hearings were gathered using an online questionnaire. 35 responses were received. Findings emphasised the importance of a child’s individual needs. Many respondents had concerns over a child’s communication during the Hearings process. SLTs rarely attend Hearings. Barriers to effective communication were seen to be intrinsic to the child, but also within the environment. The paper concludes that an increased role for SLTs within the Hearings System would be beneficial, both working directly with children to support their SLCN, and training and supporting decision makers in developing confidence to refer children to SLT services.
CMIP and ATP2C2 Modulate Phonological Short-Term Memory in Language Impairment
(2009-08-14) Newbury, D. F.; Winchester, Laura; Addis, L.; Paracchini, Silvia; Buckingham, Lyn-Louise; Clark, Ann; Cohen, W.; Cowie, H.; Dworzynski, Katharina; Everitt, Andrea; Goodyer, I. M.; Hennessy, E.; Kindley, A. D.; Miller, Laura L.; Nasir, J.; O'Hare, Anne; Shaw, D.; Simkin, Z.; Simonoff, E.; Slonims, V.; Watson, Jocelynne; Ragoussis, Jiannis; Fisher, S. E.; Seckl, J.; Helms, P. J.; Bolton, P. F.; Pickles, A.; Conti-Ramsden, G.; Baird, G.; Bishop, DVM; Monaco, A. P.
Specific language impairment (SLI) is a common developmental disorder characterized by difficulties in language acquisition despite otherwise normal development and in the absence of any obvious explanatory factors. We performed a high-density screen of SLI1, a region of chromosome 16q that shows highly significant and consistent linkage to nonword repetition, a measure of phonological short-term memory that is commonly impaired in SLI. Using two independent language-impaired samples, one family-based (211 families) and another selected from a population cohort on the basis of extreme language measures (490 cases), we detected association to two genes in the SLI1 region: that encoding c-maf-inducing protein (CMIP, minP = 5.5 10-7 at rs6564903) and that encoding calcium-transporting ATPase, type2C, member2 (ATP2C2, minP = 2.0 10-5 at rs11860694). Regression modeling indicated that each of these loci exerts an independent effect upon nonword repetition ability. Despite the consistent findings in language-impaired samples, investigation in a large unselected cohort (n = 3612) did not detect association. We therefore propose that variants in CMIP and ATP2C2 act to modulate phonological short-term memory primarily in the context of language impairment. As such, this investigation supports the hypothesis that some causes of language impairment are distinct from factors that influence normal language variation. This work therefore implicates CMIP and ATP2C2 in the etiology of SLI and provides molecular evidence for the importance of phonological short-term memory in language acquisition.
Genetic and phenotypic effects of phonological short-term memory and grammatical morphology in specific language impairment
(2008-06) Falcaro, M.; Pickles, A.; Newbury, D. F.; Addis, L.; Banfield, E.; Fisher, S. E.; Monaco, A. P.; Simkin, Z.; Conti-Ramsden, G.; Newbury, D. F.; Banfield, E.; Addis, L.; Cleak, J. D.; Cardon, L. R.; Merriden, M. J.; Goodyer, I. M.; Simonoff, E.; Bolton, P. F.; Slonims, V.; Baird, G.; Everitt, Andrea; Hennessy, E.; Shaw, D.; Helms, P. J.; Kindley, A. D.; Clark, Ann; Watson, Jocelynne; O'Hare, Anne; Seckl, J.; Cowie, H.; Cohen, W.; Nasir, J.; Bishop, DVM
Deficits in phonological short-term memory and aspects of verb grammar morphology have been proposed as phenotypic markers of specific language impairment (SLI) with the suggestion that these traits are likely to be under different genetic influences. This investigation in 300 first-degree relatives of 93 probands with SLI examined familial aggregation and genetic linkage of two measures thought to index these two traits, non-word repetition and tense marking. In particular, the involvement of chromosomes 16q and 19q was examined as previous studies found these two regions to be related to SLI. Results showed a strong association between relatives' and probands' scores on non-word repetition. In contrast, no association was found for tense marking when examined as a continuous measure. However, significant familial aggregation was found when tense marking was treated as a binary measure with a cut-off point of -1.5 SD, suggestive of the possibility that qualitative distinctions in the trait may be familial while quantitative variability may be more a consequence of non-familial factors. Linkage analyses supported previous findings of the SLI Consortium of linkage to chromosome 16q for phonological short-term memory and to chromosome 19q for expressive language. In addition, we report new findings that relate to the past tense phenotype. For the continuous measure, linkage was found on both chromosomes, but evidence was stronger on chromosome 19. For the binary measure, linkage was observed on chromosome 19 but not on chromosome 16. 2007 The Authors.
Highly Significant Linkage to the SLI1 Locus in an Expanded Sample of Individuals Affected by Specific Language Impairment
(2004) Watson, Jocelynne; Clark, Ann
Specific language impairment (SLI) is defined as an unexplained failure to acquire normal language skills despite adequate intelligence and opportunity. We have reported elsewhere a full-genome scan in 98 nuclear families affected by this disorder, with the use of three quantitative traits of language ability (the expressive and receptive tests of the Clinical Evaluation of Language Fundamentals and a test of nonsense word repetition). This screen implicated two quantitative trait loci, one on chromosome 16q (SLI1) and a second on chromosome 19q (SLI2). However, a second independent genome screen performed by another group, with the use of parametric linkage analyses in extended pedigrees, found little evidence for the involvement of either of these regions in SLI. To investigate these loci further, we have collected a second sample, consisting of 86 families (367 individuals, 174 independent sib pairs), all with probands whose language skills are 1.5 SD below the mean for their age. Haseman-Elston linkage analysis resulted in a maximum LOD score (MLS) of 2.84 on chromosome 16 and an MLS of 2.31 on chromosome 19, both of which represent significant linkage at the 2% level. Amalgamation of the wave 2 sample with the cohort used for the genome screen generated a total of 184 families (840 individuals, 393 independent sib pairs). Analysis of linkage within this pooled group strengthened the evidence for linkage at SLI1 and yielded a highly significant LOD score (MLS = 7.46, interval empirical P<.0004). Furthermore, linkage at the same locus was also demonstrated to three reading-related measures (basic reading [MLS = 1.49], spelling [MLS = 2.67], and reading comprehension [MLS = 1.99] subtests of the Wechsler Objectives Reading Dimensions).
Homozygous microdeletion of exon 5 in ZNF277 in a girl with specific language impairment.
(Nature Publishing Group, 2014-02) Ceroni, Fabiola; Simpson, Nuala H.; Francks, Clyde; Baird, Gillian; Conti-Ramsden, Gina; Clark, Ann; Bolton, Patrick F.; Hennessy, Elizabeth R.; Donnelly, Peter; Bentley, David R.; Martin, Hilary; Parr, Jeremy; Pagnamenta, Alistair T.; Maestrini, Elena; Bacchelli, Elena; Fisher, Simon E.; Newbury, Dianne F.
Specific language impairment (SLI), an unexpected failure to develop appropriate language skills despite adequate non-verbal intelligence, is a heterogeneous multifactorial disorder with a complex genetic basis. We identified a homozygous microdeletion of 21,379-bp in the ZNF277 gene (NM_021994.2), encompassing exon 5, in an individual with severe receptive and expressive language impairment. The microdeletion was not found in the proband's affected sister or her brother who had mild language impairment. However, it was inherited from both parents, each of whom carries a heterozygous microdeletion and has a history of language problems. The microdeletion falls within the AUTS1 locus, a region linked to autistic spectrum disorders (ASDs). Moreover, ZNF277 is adjacent to the DOCK4 and IMMP2L genes, which have been implicated in ASD. We screened for the presence of ZNF277 microdeletions in cohorts of children with SLI or ASD and panels of control subjects. ZNF277 microdeletions were at an increased allelic frequency in SLI probands (1.1%) compared with both ASD family members (0.3%) and independent controls (0.4%). We performed quantitative RT-PCR analyses of the expression of IMMP2L, DOCK4 and ZNF277 in individuals carrying either an IMMP2L_DOCK4 microdeletion or a ZNF277 microdeletion. Although ZNF277 microdeletions reduce the expression of ZNF277, they do not alter the levels of DOCK4 or IMMP2L transcripts. Conversely, IMMP2L_DOCK4 microdeletions do not affect the expression levels of ZNF277. We postulate that ZNF277 microdeletions may contribute to the risk of language impairments in a manner that is independent of the autism risk loci previously described in this region.
Increased prevalence of sex chromosome aneuploidies in specific language impairment and dyslexia.
(Wiley, 2014-04) Simpson, Nuala H.; Addis, Laura; Brandler, William M.; Slonims, Vicky; Clark, Ann; Watson, Jocelynne; Scerri, Thomas S.; Hennessy, Elizabeth R.; Bolton, Patrick F.; Conti-Ramsden, Gina; Fairfax, Benjamin P.; Knight, Julian C.; Stein, John; Talcott, Joel B.; O'Hare, Anne; Baird, Gillian; Paracchini, Silvia; Fisher, Simon E.; Newbury, Dianne F.; Consortium, Sli
AIM Sex chromosome aneuploidies increase the risk of spoken or written language disorders but individuals with specific language impairment (SLI) or dyslexia do not routinely undergo cytogenetic analysis. We assess the frequency of sex chromosome aneuploidies in individuals with language impairment or dyslexia. METHOD Genome-wide single nucleotide polymorphism genotyping was performed in three sample sets: a clinical cohort of individuals with speech and language deficits (87 probands: 61 males, 26 females; age range 4 to 23 years), a replication cohort of individuals with SLI, from both clinical and epidemiological samples (209 probands: 139 males, 70 females; age range 4 to 17 years), and a set of individuals with dyslexia (314 probands: 224 males, 90 females; age range 7 to 18 years). RESULTS In the clinical language-impaired cohort, three abnormal karyotypic results were identified in probands (proband yield 3.4%). In the SLI replication cohort, six abnormalities were identified providing a consistent proband yield (2.9%). In the sample of individuals with dyslexia, two sex chromosome aneuploidies were found giving a lower proband yield of 0.6%. In total, two XYY, four XXY (Klinefelter syndrome), three XXX, one XO (Turner syndrome), and one unresolved karyotype were identified. INTERPRETATION The frequency of sex chromosome aneuploidies within each of the three cohorts was increased over the expected population frequency (approximately 0.25%) suggesting that genetic testing may prove worthwhile for individuals with language and literacy problems and normal non-verbal IQ. Early detection of these aneuploidies can provide information and direct the appropriate management for individuals.
Lack of replication for the myosin-18B association with mathematical ability in independent cohorts
(2015-04-01) Pettigrew, K. A.; Fajutrao Valles, S.; Moll, K.; Northstone, K.; Ring, S.; Pennell, C.; Wang, C.; Leavett, R.; Hayiou-Thomas, M. E.; Thompson, P.; Simpson, N. H.; Fisher, S. E.; Whitehouse, A. J. O.; Snowling, M. J.; Newbury, D. F.; Paracchini, S.; Clark, Ann; Watson, Jocelynne
Twin studies indicate that dyscalculia (or mathematical disability) is caused partly by a genetic component, which is yet to be understood at the molecular level. Recently, a coding variant (rs133885) in the myosin-18B gene was shown to be associated with mathematical abilities with a specific effect among children with dyslexia. This association represents one of the most significant genetic associations reported to date for mathematical abilities and the only one reaching genome-wide statistical significance. We conducted a replication study in different cohorts to assess the effect of rs133885 maths-related measures. The study was conducted primarily using the Avon Longitudinal Study of Parents and Children (ALSPAC), (N=3819). We tested additional cohorts including the York Cohort, the Specific Language Impairment Consortium (SLIC) cohort and the Raine Cohort, and stratified them for a definition of dyslexia whenever possible. We did not observe any associations between rs133885 in myosin-18B and mathematical abilities among individuals with dyslexia or in the general population. Our results suggest that the myosin-18B variant is unlikely to be a main factor contributing to mathematical abilities. We could not replicate the association of the myosin-18B gene with mathematical ability. 2015 The Authors.
Multivariate Linkage Analysis of Specific Language Impairment (SLI)
(2007) Monaco, A. P.; Watson, Jocelynne; Clark, Ann
Specific language impairment (SLI) is defined as an inability to develop appropriate language skills without explanatory medical conditions, low intelligence or lack of opportunity. Previously, a genome scan of 98 families affected by SLI was completed by the SLI Consortium, resulting in the identification of two quantitative trait loci (QTL) on chromosomes 16q (SLI1) and 19q (SLI2). This was followed by a replication of both regions in an additional 86 families. Both these studies applied linkage methods to one phenotypic trait at a time. However, investigations have suggested that simultaneous analysis of several traits may offer more power. The current study therefore applied a multivariate variance-components approach to the SLI Consortium dataset using additional phenotypic data. A multivariate genome scan was completed and supported the importance of the SLI1 and SLI2 loci, whilst highlighting a possible novel QTL on chromosome 10. Further investigation implied that the effect of SLI1 on non-word repetition was equally as strong on reading and spelling phenotypes. In contrast, SLI2 appeared to have influences on a selection of expressive and receptive language phenotypes in addition to non-word repetition, but did not show linkage to literacy phenotypes.
Pausing mid-sentence: An ecological model approach to language disorder and lived experience of young male offenders
(MDPI, 2021-01-29) Fitzsimons, Dermot; Clark, Ann
International research evidence has firmly established a high prevalence of language disorder in young offender populations. Less is known about young offenders’ perspectives on their own language abilities. The study recruited an opportunity sample of 10 young men in custody at a Scottish youth offending institution who had recent experience of segregation. This mixed-methods study investigated participants’ views on their language and communication abilities to inform future support and intervention, and formal language assessment was also administered to investigate indicative prevalence of language disorder within the sample. It fo-cused on their communication with professionals and peers in justice, education and welfare set-tings. Results of standardised language assessment indicated the presence of language disorder in 44% (n = 4) of the sample (n = 9). Thematic analysis of interview data led to formulation of three themes: Valuing Communication, Literacy and Learning; Exerting Control; and Seeking Support. The first theme is discussed with reference to Bronfenbrenner’s Bioecological Model. Participants offered reflective and rich views on their lived experience. They provided perspectives on features of successful interaction with peers and authority figures, importance of effective communication and the difficulties they encountered. This study argues for additional communication support for young people in the justice system.
Police officers’ awareness of the speech, language and communication needs of young offenders
(SAGE, 2020-10-22) MacRae, AnneMarie; Clark, Ann
Around 60% of young people in conflict with the law experience speech, language and communication needs (SLCN). This study investigates Police Scotland officers’ awareness of the SLCN of young offenders, strategies officers use to support SLCN and their interest in further training on SLCN. A majority had worked with young offenders with SLCN and were fairly confident in recognising these needs. The most common support strategy was to involve outside agencies, specifically Appropriate Adults. Increased speech and language therapy services are needed to train Police Officers to recognise and support SLCN without reliance on other agencies.
Receptive language disorder in childhood: Familial aspects and long term outcomes: Results from a Scottish study
(2007) Clark, Ann; O'Hare, Anne; Watson, Jocelynne; Cohen, W.; Cowie, H.; Elton, R.; Nasir, J.; Seckl, J.
Background and aims: Little is known about the familial characteristics of children with severe receptive specific language impairment (SLI). Affected children are more likely to have long-term problems than those with expressive SLI but to date they have only been described as small cohorts within SLI populations. We therefore aimed to describe the clinical and familial characteristics of severe receptive SLI as defined by a rigorous phenotype and to establish whether non-word repetition showed a relationship with language impairment in these families. Methods: Cross-sectional study of children who met ICD-10 (F80.2) criteria for receptive SLI at school entry, their siblings and genetic parents with standardised measures of language and non-verbal IQ, phonological auditory memory and speech sound inventory. Results: At a mean of 6 years after school entry with a severe receptive SLI, the 58 participants had a normal mean and standard deviation non-verbal IQ, but only 3% (two) had attained language measures in the normal range. One third still had severe receptive language impairment. One third of siblings not known to be affected had language levels outside the normal range. Phonological auditory memory was impaired in most family members. Conclusion: Severe receptive SLI is nearly always associated with an equally severe reduction in expressive language skills. Language impairment in siblings may go undetected and yet they are at high risk. Family members had weak phonological auditory memory skills, suggesting that this could be a marker for language acquisition difficulties. Receptive SLI rarely resolves and trials of therapy are urgently needed.
Reply to Pembrey et al: 'ZNF277 microdeletions, specific language impairment and the meiotic mismatch methylation (3M) hypothesis'
(2015-09) Ceroni, Fabiola; Simpson, Nuala H.; Francks, Clyde; Baird, Gillian; Conti-Ramsden, Gina; Clark, Ann; Bolton, Patrick F.; Hennessy, Elizabeth R.; Donnelly, Peter; Bentley, David R.; Martin, Hilary; Parr, Jeremy; Pagnamenta, Alistair T.; Maestrini, Elena; Bacchelli, Elena; Fisher, Simon E.; Newbury, Dianne F.
Revisiting the phonological deficit in dyslexia: are implicit non-orthographic representations impaired?
(Cambridge University Press, 2013-07) Dickie, Catherine; Ota, Mitsuhiko; Clark, Ann
This study investigates whether developmental dyslexia involves an impairment in implicit phonological representations, as distinct from orthographic representations and metaphonological skills. A group of adults with dyslexia was matched with a group with no history of speech/language/literacy impairment. Tasks varied in the demands made on (implicit) phonological representations versus metalinguistic analysis/manipulation, and controlled the contribution of phonological versus orthographic representations by including both a segmental and an equivalent suprasegmental (non-orthographic) version of each task. The findings show a dissociation between metaphonological skills and implicit phonological representations, with the dyslexic group impaired in metaphonological manipulation skills in both segmental and suprasegmental tasks, but not in implicit knowledge of phonological contrasts.
Speech and language functioning in paediatric HIV disease.
(Taylor & Francis Ltd, 2001) Clark, Ann; Dean, E.; Mok, J.
The Human Immunodeficiency Virus (HIV) can potentially cause impairment to linguistic functioning. This study was the first to compare selected aspects of speech motor control, expressive language and receptive language functioning in individual HIV infected children. Results suggested clinically stable HIV infected children can develop linguistic impairment. Such impairment is in danger of going unnoticed without assessment. Thorough and regular assessment of the linguistic functioning of long-term survivors of paediatric HIV disease is essential if optimal speech and language therapy management strategies are to be devised.
Syntax
(J & R Press, 2014-08-31) Bates, S.; Clark, Ann; Whitworth, Nicole; Knight, Rachael-Anne
Tangled terminology: what's in a name?
(RCSLT, 2013-09) Clark, Ann; Allstaff, Linda; Carter, Glenn; Chalmers, Cara; Ross, Eilidh; Simpson, Sarah
Ann Clark and colleagues from the SLI in Scotland SIG Committee look at the use of terminology to describe the needs of children they support
The phonological deficit in developmental dyslexia : is there a suprasegmental component?
(2007-08) Dickie, Catherine; Ota, Mitsuhiko; Clark, Ann
Adult dyslexics were tested on a range of tasks which were presented in two closely matched versions: a segmental version and a suprasegmental version. The tasks targeted phonological contrasts on one hand and the metalinguistic ability to manipulate phonological units on the other hand. The dyslexic group showed a deficit in suprasegmentals as well as segmentals but only when the tasks involved manipulation. We found no evidence that the representations of suprasegmental contrasts are impaired in the dyslexic participants. Keywords: developmental dyslexia
Unidentified and Unmet: Hidden speech, language and communication needs of looked-after children and young people in Scotland
(Royal College of Speech and Language Therapists, 2016-05) Clark, Ann; Fitzsimons, Dermot
Unmet need in Scotland's criminal justice system
(RCSLT, 2012-02) Clark, Ann; Barrow, Ellie; Hartley, Kim
Research shows that around 60% of young people in contact with youth justice services have speech, language and communication needs. This article reports on the most comprehensive survey of speech and language therapy in Scotland's CJS to date, reports levels of provision, and makes recommendations for future actions. It also provides hard evidence that what the agencies in Scotland's CJS are getting now from Speech and Language Therapists is increasingly valued.
What should we call children with unexplained language difficulties? A practical perspective
(Wiley, 2014-08-20) Clark, Ann; Carter, Glenn
This commentary reflects on Bishop's discussion of possible diagnostic terms for children with unexplained language problems. We discuss each of her four proposed terms in turn, commenting on their potential use in clinical and educational contexts by speech and language therapists and other professionals.