Preregistration research training of speech and language therapists in the United Kingdom: a nationwide audit of quantity, content and delivery

AIM: To carry out an audit of the quantity and content of research teaching on UK preregistration speech and language therapy (SLT) degree programmes. METHOD: Lecturers delivering research teaching from each higher education institution providing preregistration training were invited to complete an online survey. QUESTIONS INCLUDED: Amount of research teaching, content of research teaching (including final-year projects), perceived confidence by staff of graduates in research awareness, research activity and leading research. Responses were received for 14 programmes (10 undergraduate and four postgraduate), representing 73% of all undergraduate courses and 44% of all postgraduate courses in the United Kingdom. RESULTS: Fifty percent of courses included over 30 h of research teaching, with wide variability across both undergraduate and postgraduate courses in number of hours, modules and credits devoted to research. There was no association between quantity of research teaching and perception of adequacy of quantity of teaching. Critical appraisal, statistical software and finding literature were the most common topics taught. Conversely, service evaluation and audit was the least common topic covered. All institutions provided a final-year project, with 11/14 requiring empirical research. Perceived confidence of graduates was higher for research awareness than active research and leading research, but this varied across institutions. There was a strong correlation between lecturers' perceived confidence of graduates in research awareness and number of hours of research teaching. CONCLUSION: Despite the requirements for healthcare professionals to engage in evidence-based practice, the amount and nature of research training in preregistration courses for SLTs in the United Kingdom is highly variable. Levels of perceived confidence of graduates were also variable, not only for active participation in research, and for leading research, but also for research awareness. This has implications for the ability of SLTs to use and embed research in their routine clinical practice

A systematic review of speech, language and communication interventions for children with Down syndrome from 0 to 6 years.

BACKGROUND: Speech and language acquisition can be a challenge for young children with Down syndrome (DS), and while early intervention is important, we do not know what early interventions exist and how effective they may be. AIMS: To systematically review existing early speech, language and communication interventions for young children with DS from birth up to 6 years, and to investigate their effectiveness in improving speech, language and communication outcomes in children with DS. Other outcomes are changes in parental behaviour and their responsiveness METHODS & PROCEDURES: We conducted a systematic search of relevant electronic databases to identify early intervention studies targeting speech, language and communication outcomes in children with DS published up to May 2020. A total of 11 studies that met the inclusion criteria were synthesized and appraised for quality using the PEDro-P scale. There were a total of 242 children. We identified three types of intervention: communication training and responsive teaching, early stimulation programme, and dialectic-didactic approach. MAIN CONTRIBUTION: The findings from nine out of the 11 studies reported positive outcomes for children's language and communication up to 18 months following the intervention. All nine studies reported interventions that were co-delivered by parents and clinicians. However, there was also a de-accelerated growth in requesting behaviours in the intervention group reported by one study as well as a case of no improvement for the intervention group. Three studies provided some evidence of improvements to parent outcomes, such as increased parental language input and increased responsiveness. However, there was a moderate to high risk of bias for all studies included. CONCLUSIONS: The findings from this review suggest that interventions that have high dosage, focus on language and communication training within a naturalistic setting, and are co-delivered by parents and clinicians/researchers may have the potential to provide positive outcomes for children with DS between 0 and 6 years of age. Due to the limited number of studies, limited heterogeneous data and the moderate to high risk of bias across studies, there is an urgent need for higher quality intervention studies in the field to build the evidence base. WHAT THIS PAPER ADDS: What is already known on the subject Speech and language acquisition is usually delayed in children with DS, yet there are currently no standard interventions for children under 6. A number of research-based interventions exist in the literature, yet it is unknown how effective these are. What this study adds to existing knowledge This is the first systematic review that specifically and exclusively focuses on parent- and non-parent-mediated speech, language and communication interventions for children with DS between 0 and 6 years of age. It complements three existing recent reviews, each of which has a slightly different focus. The previously published reviews have covered only parent-mediated interventions, excluding interventions not mediated by parents, have reviewed interventions including children and adults, without any mention of what early interventions may be like or how effective these may be for young children with DS, have not always assessed risk of bias or have focused specifically on language interventions excluding those focusing on speech articulation or pre-linguistic skills. The findings from the current review suggest that interventions that have high dosage focus on language and communication training within a naturalistic setting and are co-delivered by parents and clinicians/researchers may have the potential to provide positive outcomes for children with Diwn syndrome from 0 to 6. We acknowledge that the current evidence base comes from studies with moderate to high risk of bias, hence our conclusions are not definitive. What are the potential or actual clinical implications of this work? Speech and language therapists will have synthesized information and a quick reference point on what type of interventions exist for children with DS under the age of 6, and evidence of which intervention approaches may be promising in terms of providing positive outcomes. However, it is acknowledged that, due to the limited number of studies and the moderate to high risk of bias inherent in the evidence, there is an urgent need for higher quality intervention studies in the field to build the evidence base

Quantum Mechanics of Multi-Prong Potentials

We describe the bound state and scattering properties of a quantum mechanical particle in a scalar $N$-prong potential. Such a study is of special interest since these situations are intermediate between one and two dimensions. The energy levels for the special case of $N$ identical prongs exhibit an alternating pattern of non-degeneracy and $(N-1)$ fold degeneracy. It is shown that the techniques of supersymmetric quantum mechanics can be used to generate new solutions. Solutions for prongs of arbitrary lengths are developed. Discussions of tunneling in $N$-well potentials and of scattering for piecewise constant potentials are given. Since our treatment is for general values of $N$, the results can be studied in the large $N$ limit. A somewhat surprising result is that a free particle incident on an $N$-prong vertex undergoes continuously increased backscattering as the number of prongs is increased.Comment: 17 pages. LATEX. On request, TOP_DRAW files or hard copies available for 7 figure

Neocerebellar Crus I Abnormalities Associated with a Speech and Language Disorder Due to a Mutation in FOXP2

Bilateral volume reduction in the caudate nucleus has been established as a prominent brain abnormality associated with a FOXP2 mutation in affected members of the ‘KE family’, who present with developmental orofacial and verbal dyspraxia in conjunction with pervasive language deficits. Despite the gene’s early and prominent expression in the cerebellum and the evidence for reciprocal cerebellum-basal ganglia connectivity, very little is known about cerebellar abnormalities in affected KE members. Using cerebellum-specific voxel-based morphometry (VBM) and volumetry, we provide converging evidence from subsets of affected KE members scanned at three time points for grey matter (GM) volume reduction bilaterally in neocerebellar lobule VIIa Crus I compared with unaffected members and unrelated controls. We also show that right Crus I volume correlates with left and total caudate nucleus volumes in affected KE members, and that right and total Crus I volumes predict the performance of affected members in non-word repetition and non-verbal orofacial praxis. Crus I also shows bilateral hypo-activation in functional MRI in the affected KE members relative to controls during non-word repetition. The association of Crus I with key aspects of the behavioural phenotype of this FOXP2 point mutation is consistent with recent evidence of cerebellar involvement in complex motor sequencing. For the first time, specific cerebello-basal ganglia loops are implicated in the execution of complex oromotor sequences needed for human speech

Pretransplant dyslipidaemia influences primary graft dysfunction after lung transplantation

OBJECTIVES: Primary graft dysfunction (PGD) is a major cause of mortality within the first year following lung transplantation. Pulmonary hypertension, elevated body mass index (BMI), prolonged ischaemic time of the graft, intraoperative blood transfusions >1000 ml and the use of cardiopulmonary bypass or extracorporeal membrane oxygenation increase the risk for PGD. We aimed to evaluate whether dyslipidaemia is an additional risk factor for the development of PGD. METHODS: We retrospectively analysed demographic and clinical data of 264 patients who received their first bilateral lung transplantation between March 2000 and October 2013 at our institution. The endpoint was PGD grade 3 at any time, defined according to the International Society for Heart and Lung Transplantation (ISHLT) criteria. Fasting lipid profiles at listing time or just before transplantation (baseline) were documented and dyslipidaemia was defined as any of the parameters being out of range. Comparisons of continuous variables between patients with PGD grade 3 and patients without were performed with the Mann-Whitney U-test, whereas proportions were compared with the χ(2) test. Continuous variables were presented as arithmetic means with standard deviation for ease of comparison, but levels of statistical significance were computed using the appropriate non-parametric statistical test. To identify PGD risk factors, a forward stepwise logistic regression model was used. RESULTS: PGD occurred in 63 recipients (24%). Pretransplant dyslipidaemia was documented in 153 recipients (58%) and was significantly more prevalent among recipients developing PGD (45 vs 108, P < 0.013). Despite various underlying pulmonary pathologies, higher triglyceride (TG) levels (1.41 ± 0.78 vs 1.16 ± 0.78, P < 0.012), lower high-density lipoprotein-cholesterol (HDL-C) concentrations (1.24 ± 0.55 vs 1.57 ± 0.71, P < 0.0005) and higher cholesterol/HDL-C values (3.80 ± 2.02 vs 3.00 ± 0.92, P < 0.0005) were associated with a lower incidence of PGD. Patients with PGD had significantly longer ischaemic time (350 ± 89 vs 322 ± 91, P = 0.017) and higher BMI (23 ± 5 vs 21 ± 4.4, P < 0.007). CONCLUSION: Dyslipidaemia seems to be an independent risk factor for PGD after lung transplantation: low circulating levels of HDL-C and hypertriglyceridaemia increase the incidence of PGD. Even if HDL-C levels are difficult to alter today, triglyceride and cholesterol levels can be addressed therapeutically and may have a positive influence on the development of PGD

New Eaxactly Solvable Hamiltonians: Shape Invariance and Self-Similarity

We discuss in some detail the self-similar potentials of Shabat and Spiridonov which are reflectionless and have an infinite number of bound states. We demonstrate that these self-similar potentials are in fact shape invariant potentials within the formalism of supersymmetric quantum mechanics. In particular, using a scaling ansatz for the change of parameters, we obtain a large class of new, reflectionless, shape invariant potentials of which the Shabat-Spiridonov ones are a special case. These new potentials can be viewed as q-deformations of the single soliton solution corresponding to the Rosen-Morse potential. Explicit expressions for the energy eigenvalues, eigenfunctions and transmission coefficients for these potentials are obtained. We show that these potentials can also be obtained numerically. Included as an intriguing case is a shape invariant double well potential whose supersymmetric partner potential is only a single well. Our class of exactly solvable Hamiltonians is further enlarged by examining two new directions: (i) changes of parameters which are different from the previously studied cases of translation and scaling; (ii) extending the usual concept of shape invariance in one step to a multi-step situation. These extensions can be viewed as q-deformations of the harmonic oscillator or multi-soliton solutions corresponding to the Rosen-Morse potential.Comment: 26 pages, plain tex, request figures by e-mai

A novel role for CRIM1 in the corneal response to UV and pterygium development

Pterygium is a pathological proliferative condition of the ocular surface, characterised by formation of a highly vascularised, fibrous tissue arising from the limbus that invades the central cornea leading to visual disturbance and, if untreated, blindness. Whilst chronic ultraviolet (UV) light exposure plays a major role in its pathogenesis, higher susceptibility to pterygium is observed in some families, suggesting a genetic component. In this study, a Northern Irish family affected by pterygium but reporting little direct exposure to UV was identified carrying a missense variant in CRIM1 NM_016441.2: c.1235 A &gt; C (H412P) through whole-exome sequencing and subsequent analysis. CRIM1 is expressed in the developing eye, adult cornea and conjunctiva, having a role in cell differentiation and migration but also in angiogenesis, all processes involved in pterygium formation. We demonstrate elevated CRIM1 expression in pterygium tissue from additional individual Northern Irish patients compared to unaffected conjunctival controls. UV irradiation of HCE-S cells resulted in an increase in ERK phosphorylation and CRIM1 expression, the latter further elevated by the addition of the MEK1/2 inhibitor, U0126. Conversely, siRNA knockdown of CRIM1 led to decreased UV-induced ERK phosphorylation and increased BCL2 expression. Transient expression of the mutant H412P CRIM1 in corneal epithelial HCE-S cells showed that, unlike wild-type CRIM1, it was unable to reduce the cell proliferation, increased ERK phosphorylation and apoptosis induced through a decrease of BCL2 expression levels. We propose here a series of intracellular events where CRIM1 regulation of the ERK pathway prevents UV-induced cell proliferation and may play an important role in the in the pathogenesis of pterygium

Editorial Perspective: Speaking up for developmental language disorder - the top 10 priorities for research

Developmental language disorder (DLD) is one of the most common neurodevelopmental conditions, yet is chronically underserved, with far fewer children receiving clinical services than expected from prevalence estimates, and very little research attention relative to other neurodevelopmental conditions of similar prevalence and severity. This editorial describes a research priority-setting exercise undertaken by the Royal College of Speech and Language Therapists, which aims to redress this imbalance. From consultations with researchers, practitioners and individuals with lived experience, 10 research priorities emerge. Our goal is to share these priorities with the wider research community, to raise awareness and encourage research collaboration to improve outcomes for young people with DLD

Homozygous microdeletion of exon 5 in ZNF277 in a girl with specific language impairment

Peer reviewedPublisher PD

A novel nonsense CDK5RAP2 mutation in a Somali child with primary microcephaly and sensorineural hearing loss

Primary microcephaly is a genetically heterogeneous condition characterized by reduced head circumference (-3 SDS or more) and mild-to-moderate learning disability. Here, we describe clinical and molecular investigations of a microcephalic child with sensorineural hearing loss. Although consanguinity was unreported initially, detection of 13.7 Mb of copy neutral loss of heterozygosity (cnLOH) on chromosome 9 implicated the CDK5RAP2 gene. Targeted sequencing identified a homozygous E234X mutation, only the third mutation to be described in CDK5RAP2, the first in an individual of non-Pakistani descent. Sensorineural hearing loss is not generally considered to be consistent with autosomal recessive microcephaly and therefore it seems likely that the deafness in this individual is caused by the co-occurrence of a further gene mutation, independent of CDK5RAP2. Nevertheless, further detailed clinical descriptions of rare CDK5RAP2 patients, including hearing assessments will be needed to resolve fully the phenotypic range associated with mutations in this gene. This study also highlights the utility of SNP-array testing to guide disease gene identification where an autosomal recessive condition is plausible