Speech production in children with Down's syndrome: The effects of reading, naming and imitation

People with DS are known to have difficulties with expressive language, and often have difficulties with intelligibility. They often have stronger visual than verbal short-term memory skills and, therefore, reading has often been suggested as an intervention for speech and language in this population. However, there is as yet no firm evidence that reading can improve speech outcomes. This study aimed to compare reading, picture naming and repetition for the same 10 words, to identify if the speech of eight children with DS (aged 11-14 years) was more accurate, consistent and intelligible when reading. Results show that children were slightly, yet significantly, more accurate and intelligible when they read words compared with when they produced those words in naming or imitation conditions although the reduction in inconsistency was non-significant. The results of this small-scale study provide tentative support for previous claims about the benefits of reading for children with DS. The mechanisms behind a facilitatory effect of reading are considered, and directions are identified for future research

Down syndrome and postoperative complications after paediatric cardiac surgery: a propensity-matched analysis

OBJECTIVESThe incidence of congenital heart disease is approximately 50%, mostly related to endocardial cushion defects. The aim of our study was to investigate the postoperative complications that occur after paediatric cardiac surgery.METHODSOur perioperative data were analysed in paediatric patients with Down syndrome undergoing cardiac surgery. We retrospectively analysed the data from 2063 consecutive paediatric patients between January 2003 and December 2008. After excluding the patients who died or had missing data, the analysed database (before propensity matching) contained 129 Down patients and 1667 non-Down patients. After propensity matching, the study population comprised 222 patients and 111 patients had Down syndrome.RESULTSBefore propensity matching, the occurrences of low output syndrome (21.2 vs 32.6%, P = 0.003), pulmonary complication (14 vs 28.7%, P < 0.001) and severe infection (11.9 vs 22.5%, P = 0.001) were higher in the Down group. Down patients were more likely to have prolonged mechanical ventilation [median (interquartile range) 22 (9-72) h vs 49 (24-117) h, P = 0.007]. The total intensive care unit length of stay [6.9 (4.2-12.4) days vs 8.3 (5.3-13.2) days, P = 0.04] and the total hospital length of stay [17.3 (13.3-23.2) days vs 18.3 (15.1-23.6) days, P = 0.05] of the Down patients were also longer. Mortality was similar in the two groups before (3.58 vs 3.88%, P = 0.86) and after (5.4 vs 4.5%, P = 1.00) propensity matching. After propensity matching, there was no difference in the occurrence of adverse events.CONCLUSIONSAfter propensity matching Down syndrome was not associated with increased mortality or complication rate following congenital cardiac surgery

Anesthesiologists' and surgeons' perceptions about routine pre-operative testing in low risk patients: application of the Theoretical Domains Framework to identify factors that influence physicians' decisions to order pre-operative tests

Background Routine pre-operative tests for anesthesia management are often ordered by both anesthesiologists and surgeons for healthy patients undergoing low-risk surgery. The Theoretical Domains Framework (TDF) was developed to investigate determinants of behaviour and identify potential behaviour change interventions. In this study, the TDF is used to explore anaesthesiologists’ and surgeons’ perceptions of ordering routine tests for healthy patients undergoing low-risk surgery. Conclusion We identified key factors that anesthesiologists and surgeons believe influence whether they order pre-operative tests routinely for anesthesia management for a healthy adults undergoing low-risk surgery. These beliefs identify potential individual, team, and organisation targets for behaviour change interventions to reduce unnecessary routine test ordering. Methods Sixteen clinicians (eleven anesthesiologists and five surgeons) throughout Ontario were recruited. An interview guide based on the TDF was developed to identify beliefs about preoperative testing practices. Content analysis of physicians’ statements into the relevant theoretical domains was performed. Specific beliefs were identified by grouping similar utterances of the interview participants. Relevant domains were identified by noting the frequencies of the beliefs reported, presence of conflicting beliefs, and perceived influence on the performance of the behaviour under investigation. Results Seven of the twelve domains were identified as likely relevant to changing clinicians’ behaviour about pre-operative test ordering for anesthesia management. Key beliefs were identified within these domains including: conflicting comments about who was responsible for the test-ordering (Social/professional role and identity); inability to cancel tests ordered by fellow physicians (Beliefs about capabilities and social influences); and the problem with tests being completed before the anesthesiologists see the patient (Beliefs about capabilities and Environmental context and resources). Often, tests were ordered by an anesthesiologist based on who may be the attending anesthesiologist on the day of surgery while surgeons ordered tests they thought anesthesiologists may need (Social influences). There were also conflicting comments about the potential consequences associated with reducing testing, from negative (delay or cancel patients’ surgeries), to indifference (little or no change in patient outcomes), to positive (save money, avoid unnecessary investigations) (Beliefs about consequences). Further, while most agreed that they are motivated to reduce ordering unnecessary tests (Motivation and goals), there was still a report of a gap between their motivation and practice (Behavioural regulation)

Capturing Fleeting Intermediates in a Catalytic C-H Amination Reaction Cycle

We have applied an ambient ionization technique, desorption electrospray ionization MS, to identify transient reactive species of an archetypal C–H amination reaction catalyzed by a dirhodium tetracarboxylate complex. Using this analytical method, we have detected previously proposed short-lived reaction intermediates, including two nitrenoid complexes that differ in oxidation state. Our findings suggest that an Rh-nitrene oxidant can react with hydrocarbon substrates through a hydrogen atom abstraction pathway and raise the intriguing possibility that two catalytic C–H amination pathways may be operative in a typical bulk solution reaction. As highlighted by these results, desorption electrospray ionization MS should have broad applicability for the mechanistic study of catalytic processes

Foot-care needs in children and young people with intellectual and developmental disabilities

We asked parents of children with intellectual and developmental disabilities to complete a survey to help us understand more about the foot problems their children have experienced. Parents told us that foot problems were common in their children, 75% of the parents raised this as a concern. Less than half of the parents felt confident with managing these problems. Buying shoes was considered difficult. The results from this survey tell us that foot problems in children and young people with intellectual and developmental disabilities are a concern. It is important to ensure that children have access to foot care services. Abstract: Background Foot problems have been reported to be a very common health issue in adults with intellectual disabilities; foot problems in children and young people are, however, poorly understood. The aim of this study was to explore foot care needs of children and young people with intellectual and developmental disability. Methods An exploratory, cross-sectional online survey was undertaken across a four-month period. A purposive snowball sampling approach was adopted. The survey tool was piloted before launch and comprised three sections. The first section elicited information relating to parent/caregiver status, diagnosis, secondary diagnoses and age of child/young person. The second domain explored foot care and sought to obtain information about foot problems, access to health services and existing knowledge about foot health. The third domain focussed on footwear. Ethical approval was granted from the host institution, and all participants provided electronic consent before completing the survey. Results Data were collected from 49 parents/parental caregivers reporting on behalf of their children (mean age 7 years of age; SD 4.5 years of age). Parents reported foot problems to be very common (75%), and pes planus was the most frequent concern (51%). Twenty-four parents reported difficulties with finding shoes (48%). A mismatch between foot shape and the shoe (30%) or complications with orthotic devices (14%) within the shoe were highlighted. Conclusion The results demonstrated that the burden of foot problems in children and young people with intellectual and developmental disabilities is considerable. The findings highlight the importance of access to foot care services for these children.</p

A study protocol of a randomised controlled trial to investigate if a community based strength training programme improves work task performance in young adults with Down syndrome

<p>Abstract</p> <p>Background</p> <p>Muscle strength is important for young people with Down syndrome as they make the transition to adulthood, because their workplace activities typically emphasise physical rather than cognitive skills. Muscle strength is reduced up to 50% in people with Down syndrome compared to their peers without disability. Progressive resistance training improves muscle strength and endurance in people with Down syndrome. However, there is no evidence on whether it has an effect on work task performance or physical activity levels. The aim of this study is to investigate if a student-led community-based progressive resistance training programme can improve these outcomes in adolescents and young adults with Down syndrome.</p> <p>Methods</p> <p>A randomised controlled trial will compare progressive resistance training with a control group undertaking a social programme. Seventy adolescents and young adults with Down syndrome aged 14-22 years and mild to moderate intellectual disability will be randomly allocated to the intervention or control group using a concealed method. The intervention group will complete a 10-week, twice a week, student-led progressive resistance training programme at a local community gymnasium. The student mentors will be undergraduate physiotherapy students. The control group will complete an arts/social programme with a student mentor once a week for 90 minutes also for 10 weeks to control for the social aspect of the intervention. Work task performance (box stacking, pail carry), muscle strength (1 repetition maximum for chest and leg press) and physical activity (frequency, duration, intensity over 7-days) will be assessed at baseline (Week 0), following the intervention (Week 11), and at 3 months post intervention (Week 24) by an assessor blind to group allocation. Data will be analysed using ANCOVA with baseline measures as covariates.</p> <p>Discussion</p> <p>This paper outlines the study protocol for a randomised controlled trial on the effects of progressive resistance training on work task performance and physical activity for adolescents and young adults with Down syndrome. The intervention addresses the impairment of muscle weakness which may improve work task performance and help to increase physical activity levels.</p> <p>Clinical trial registration number</p> <p>Australian New Zealand Clinical Trials Registry ACTRN12609000938202</p

Gait patterns in Prader-Willi and Down syndrome patients

<p>Abstract</p> <p>Background</p> <p>Prader-Willi (PWS) and Down Syndrome (DS) are two genetic disorders characterised by some common clinical and functional features. A quantitative description and comparison of their patterns would contribute to a deeper understanding of the determinants of motor disability in these two syndromes. The aim of this study was to measure gait pattern in PWS and DS in order to provide data for developing evidence-based deficit-specific or common rehabilitation strategies.</p> <p>Methods</p> <p>19 PWS patients (17.7-40 yr) and 21 DS patients (18-39 yr) were evaluated with an optoelectronic system and force platforms for measuring kinematic and kinetic parameters during walking. The results were compared with those obtained in a group of normal-weight controls (Control Group: CG; 33.4 + 9.6 yr).</p> <p>Results and Discussion</p> <p>The results show that PWS and DS are characterised by different gait strategies. Spatio-temporal parameters indicated a cautious, abnormal gait in both groups, but DS walked with a less stable strategy than PWS. As for kinematics, DS showed a significantly reduced hip and knee flexion, especially at initial contact and ankle range of motion than PWS. DS were characterised by lower ranges of motion (p < 0.05) in all joints than CG and PWS. As for ankle kinetics, both PWS and DS showed a significantly lower push-off during terminal stance than CG, with DS yielding the lowest values. Stiffness at hip and ankle level was increased in DS. PWS showed hip stiffness values close to normal. At ankle level, stiffness was significantly decreased in both groups.</p> <p>Conclusions</p> <p>Our data show that DS walk with a less physiological gait pattern than PWS. Based on our results, PWS and DS patients need targeted rehabilitation and exercise prescription. Common to both groups is the aim to improve hypotonia, muscle strength and motor control during gait. In DS, improving pelvis and hip range of motion should represent a major specific goal to optimize gait pattern.</p

Combining PARP Inhibition with Platinum, Ruthenium or Gold Complexes for Cancer Therapy

Platinum drugs are heavily used first-line chemotherapeutic agents for many solid tumours and have stimulated substantial interest in the biological activity of DNA-binding metal complexes. These complexes generate DNA lesions which trigger the activation of DNA damage response (DDR) pathways that are essential to maintain genomic integrity. Cancer cells exploit this intrinsic DNA repair network to counteract many types of chemotherapies. Now, advances in the molecular biology of cancer has paved the way for the combination of DDR inhibitors such as poly (ADP-ribose) polymerase (PARP) inhibitors (PARPi) and agents that induce high levels of DNA replication stress or single-strand break damage for synergistic cancer cell killing. In this review, we summarise early-stage, preclinical and clinical findings exploring platinum and emerging ruthenium anti-cancer complexes alongside PARPi in combination therapy for cancer and also describe emerging work on the ability of ruthenium and gold complexes to directly inhibit PARP activity

Toxoplasma gondii seropositivity and risk factors in pregnant women followed up by the Family Health Strategy

INTRODUCTION : Toxoplasmosis is a zoonotic infection caused by Toxoplasma gondii. It is transmitted by the ingestion of contaminated water and foods, by soil contaminated with cat feces, especially while handling it, and congenitally via the placenta. The diagnosis of maternal infection is made by serological detection of either IgM or IgG antibodies. This study assessed the seropositivity in pregnant women followed up by the Family Health Strategy (FHS) in Lages, Santa Catarina, Brazil. METHODS: The study was performed in 19 FHS units and included 148 childbearing women. The outcomes evaluated were IgM and IgG seropositivity and behavioral variables. RESULTS: IgG yielded positive results in 16% of the pregnant women, whereas IgM was positive in only 1%. CONCLUSIONS: The 1% IgM positivity rate for T. gondii indicates congenital toxoplasmosis is not common in Lages

A systematic review of the diagnostic accuracy of physical examination for the detection of cirrhosis

BACKGROUND: We conducted a review of the diagnostic accuracy of clinical examination for the diagnosis of cirrhosis. The objectives were: to identify studies assessing the accuracy of clinical examination in the detection of cirrhosis; to summarize the diagnostic accuracy of reported physical examination findings; and to define the effects of study characteristics on estimates of diagnostic accuracy. METHODS: Studies were identified through electronic literature search of MEDLINE (1966 to 2000), search of bibliographic references, and contact with authors. Studies that evaluated indicants from physical examination of patients with known or suspected liver disease undergoing liver biopsy were included. Qualitative data on study characteristics were extracted. Two-by-two tables of presence or absence of physical findings for patients with and without cirrhosis were created from study data. Data for physical findings reported in each study were combined using Summary Receiver Operating Characteristic (SROC) curves or random effects modeling, as appropriate. RESULTS: Twelve studies met inclusion criteria, including a total of 1895 patients, ranging in age from 3 to 90 years. Most studies were conducted in referral populations with elevated aminotransferase levels. Ten physical signs were reported in three or more studies and ten signs in only a single study. Signs for which there was more study data were associated with high specificity (range 75–98%), but low sensitivity (range 15–68%) for histologically-proven cirrhosis. CONCLUSIONS: Physical findings are generally of low sensitivity for the diagnosis of cirrhosis, and signs with higher specificity represent decompensated disease. Most studies have been undertaken in highly selected populations