Assessing the communication level in people with Down syndrome: inventory and assessment of instruments

Verschillende facetten van (pre)linguïstische taalontwikkeling zijn bij mensen met downsyndroom (DS) vertraagd of minder ontwikkeld. Dit kan zorgen voor probleemgedrag en moeilijkheden in de communicatie.Passende ondersteunde communicatie is nodig, maar het is niet duidelijk hoe op een laagdrempelige manier een afgewogen keuze kan worden gemaakt. In de verstandelijk gehandicaptenzorg wordt daarom vaak gebruikgemaakt van trial-and-error. Dit literatuuronderzoek inventariseert en evalueert instrumenten voor het bepalen van het communicatieniveau van mensen met downsyndroom. Middels systematisch literatuuronderzoek is gezocht naar artikelen waarin relevante instrumenten worden genoemd. Deze instrumenten zijn beschreven en beoordeeld op basis van zes criteria die zijn opgesteld vanuit de literatuur over specifieke kenmerken bij downsyndroom. De instrumenten zijn beoordeeldop toepasbaarheid bij deze doelgroep. Van de 1480 gevonden artikelen zijn 35 artikelen geanalyseerd, waaruit 23 verschillende instrumenten zijn geïdentificeerd. Van de relevante artikelen zijn onder andere studiepopulatie,doel en gebruikte instrumenten beschreven. Daarnaast zijn per instrument gegevens verzameld over eigenschappen als doelgroep, materiaal, afnameduur, normering, betrouwbaarheid en validiteit.Na beoordeling van de 23 instrumenten op basis van de criteria bleek één instrument te voldoen aan alle zes criteria. Zes instrumenten voldeden aan vijf van de zes criteria. Er is geen instrument gevonden dat specifiek voor mensen met DS is ontwikkeld. De ComVoor lijkt het meest passende instrument. Voor deinzet bij mensen met DS worden aanpassingen aan het instrument wenselijk geacht

Screening Instrument for Dysphagia in People with an Intellectual Disability (SD-ID):Quick and Reliable Screening by Caregivers

Background and Aim: Timely diagnosis of dysphagia is important for people with an intellectual disability. Periodic screening of each individual by speech-language therapists is barely feasible with respect to limited resources. Therefore, preselection of individuals with an increased dysphagia risk through screening by caregivers is crucial.Objective: This study aimed to develop the novel Screening instrument for Dysphagia for people with an Intellectual Disability (SD-ID).Methods: The SD-ID was developed, validated and optimised in two rounds. Version 3, consisting of nine risk factors and 20 items concerning eating/drinking behaviour, was thoroughly studied for feasibility, concurrent validity and reliability, and then optimised.Outcomes and Results: The SD-ID (version 3) was filled out in an average of four minutes (feasibility). A strong positive association was found between scores on SD-ID and Dysphagia Disorder Survey (concurrent validity). Test-retest and interrater reliability were very good. Two additional risk factors were added and two items removed to yield the final version 4. The most optimal cut-off score appeared to be either 4 or 5.Conclusions and Implications: The SD-ID is a reliable instrument to screen for an increased risk of dysphagia in people with an intellectual disability. Ideally it is part of a cyclic work process: Screening with SD-ID (step 1), diagnostic work-up if necessary (step 2), recommendations (step 3), and evaluation (step 4).</p

Standard and increased-dose BEACOPP chemotherapy compared with COPP-ABVD for advanced Hodgkins disease

BACKGROUND: Faced with unsatisfactory results of treatment for advanced Hodgkin's disease, we investigated three combinations of chemotherapy. METHODS: From 1993 to 1998, 1201 eligible patients 15 to 65 years of age who had newly diagnosed Hodgkin's disease in unfavorable stage IIB or IIIA or stage IIIB or IV were randomly assigned to receive eight cycles of cyclophosphamide, vincristine, procarbazine, and prednisone alternating with doxorubicin, bleomycin, vinblastine, and dacarbazine (COPP-ABVD); bleomycin, etoposide, doxorubicin, cyclophosphamide, vincristine, procarbazine, and prednisone (BEACOPP); or increased-dose BEACOPP, each followed by local radiotherapy when indicated. Enrollment in the COPP-ABVD group was stopped in 1996 owing to inferior results. RESULTS: For the final analysis, 1195 of 1201 patients could be evaluated: 260 in the COPP-ABVD group, 469 in the BEACOPP group, and 466 in the increased-dose BEACOPP group; the median follow-up was 72, 54, and 51 months, respectively. The rate of freedom from treatment failure at five years was 69 percent in the COPP-ABVD group, 76 percent in the BEACOPP group, and 87 percent in the increased-dose BEACOPP group (P=0.04 for the comparison of the COPP-ABVD group with the BEACOPP group and P<0.001 for the comparison of the increased-dose BEACOPP group with the COPP-ABVD group and with the BEACOPP group), and the five-year rates of overall survival were 83 percent, 88 percent, and 91 percent, respectively (P=0.16 for the comparison of the COPP-ABVD group with the BEACOPP group, P=0.06 for the comparison of the BEACOPP group with the increased-dose BEACOPP group, and P=0.002 for the comparison of the COPP-ABVD group with the increased-dose BEACOPP group). Rates of early progression were significantly lower with increased-dose BEACOPP than with COPP-ABVD or standard BEACOPP. CONCLUSIONS: Increased-dose BEACOPP resulted in better tumor control and overall survival than did COPP-ABVD

A Human Recombinant Autoantibody-Based Immunotoxin Specific for the Fetal Acetylcholine Receptor Inhibits Rhabdomyosarcoma Growth In Vitro and in a Murine Transplantation Model

Rhabdomyosarcoma (RMS) is the most common malignant soft tissue tumor in children and is highly resistant to all forms of treatment currently available once metastasis or relapse has commenced. As it has recently been determined that the acetylcholine receptor (AChR) γ-subunit, which defines the fetal AChR (fAChR) isoform, is almost exclusively expressed in RMS post partum, we recombinantly fused a single chain variable fragment (scFv) derived from a fully human anti-fAChR Fab-fragment to Pseudomonas exotoxin A to generate an anti-fAChR immunotoxin (scFv35-ETA). While scFv35-ETA had no damaging effect on fAChR-negative control cell lines, it killed human embryonic and alveolar RMS cell lines in vitro and delayed RMS development in a murine transplantation model. These results indicate that scFv35-ETA may be a valuable new therapeutic tool as well as a relevant step towards the development of a fully human immunotoxin directed against RMS. Moreover, as approximately 20% of metastatic malignant melanomas (MMs) display rhabdoid features including the expression of fAChR, the immunotoxin we developed may also prove to be of significant use in the treatment of these more common and most often fatal neoplasms

Biosignatures of methanogenic archaea by Confocal Raman Microspectroscopy (CRM)

Methanogenic archaea are anaerobic chemotrophic microorganisms that meet many of the metabolic and physiological requirements for survival on the martian subsurface. In particular, methanogens from Siberian permafrost are extremely resistant against different types of environmental stresses as well as simulated martian thermo-physical and subsurface conditions, making them promising model organisms for potential life on Mars. Raman spectroscopy is a vibrational spectroscopic technique that has shown a remarkable potential in microbial identification. It provides fingerprint-like information about the overall chemical composition of the samples and allows a nondestructive investigation. The biosignatures of Methanosarcina soligelidi SMA-21 were characterized by CRM during the growth phases at a single-cell level, which presented a high heterogeneity and diversity in the chemical composition of the cells and detectible subpopulation differences. This study also highlighted potential technical challenges concerning the Raman detection of methanogenic archaea (and other non-pigmented microorganisms) embedded on a mineral substrate. The biosignatures of permafrost and non-permafrost strains in the stationary phase of growth were also characterized by CRM. A cluster analysis of the spectra revealed that permafrost and non-permafrost strains have a different overall chemical composition, which has possible evolutionary implications

Moisture susceptibility of high and low compaction dry process crumb rubber modified asphalt mixtures

The field performance of dry process crumb rubber-modified (CRM) asphalt mixtures has been reported to be inconsistent with stripping and premature cracking on the surfacing. One of the concerns is that, because achieving field compaction of CRM material is difficult due to the inherent resilient nature of the rubber particle, nonuniform field compaction may lead to a deficient bond between rubber and bitumen. To assess the influence of compaction, a series of CRM and control mixtures was produced and compacted at two levels: 4% (low, optimum laboratory compaction) and 8% (high, field experience) air void content. The long-term durability, in regard to moisture susceptibility of the mixtures, was assessed by conducting repeated moisture conditioning cycles. Mechanical properties (stiffness, fatigue, and resistance to permanent deformation) were determined in the Nottingham Asphalt Tester. Results indicated that compared with conventional mixtures, the CRM mixtures, regardless of compaction effort, are more susceptible to moisture with the degree of susceptibility primarily depending on the amount of rubber in the mixture, rather than the difference in compaction. This behavior is different from that of conventional mixtures in which, as expected, poorly compacted mixtures were found to be more susceptible to moisture than were well-compacted mixtures

Specific secondary genetic alterations in mantle cell lymphoma provide prognostic information independent of the gene expression-based proliferation signature.

Purpose To compare the genetic relationship between cyclin D1 - positive and cyclin D1 - negative mantle cell lymphomas (MCLs) and to determine whether specific genetic alterations may add prognostic information to survival prediction based on the proliferation signature of MCLs. Patients and Methods Seventy-one cyclin D1 - positive and six cyclin D1 - negative MCLs previously characterized by gene expression profiling were examined by comparative genomic hybridization (CGH). Results Cyclin D1 - negative MCLs were genetically characterized by gains of 3q, 8q, and 15q, and losses of 1p, 8p23- pter, 9p21- pter, 11q21- q23, and 13q that were also the most common alterations in conventional MCLs. Parallel analysis of CGH aberrations and locus-specific gene expression profiles in cyclin D1 - positive patients showed that chromosomal imbalances had a substantial impact on the expression levels of the genes located in the altered regions. The analysis of prognostic factors revealed that the proliferation signature, the number of chromosomal aberrations, gains of 3q, and losses of 8p, 9p, and 9q predicted survival of MCL patients. A multivariate analysis showed that the gene expression-based proliferation signature was the strongest predictor for shorter survival. However, 3q gains and 9q losses provided prognostic information that was independent of the proliferative activity. Conclusion Cyclin D1 - positive and - negative MCLs share the same secondary genetic aberrations, supporting the concept that they correspond to the same genetic entity. The integration of genetic information on chromosome 3q and 9q alterations into a proliferation signature-based model may improve the ability to predict survival in patients with MCL

Emerging pharmacotherapy for cancer patients with cognitive dysfunction

Advances in the diagnosis and multi-modality treatment of cancer have increased survival rates for many cancer types leading to an increasing load of long-term sequelae of therapy, including that of cognitive dysfunction. The cytotoxic nature of chemotherapeutic agents may also reduce neurogenesis, a key component of the physiology of memory and cognition, with ramifications for the patient's mood and other cognition disorders. Similarly radiotherapy employed as a therapeutic or prophylactic tool in the treatment of primary or metastatic disease may significantly affect cognition. A number of emerging pharmacotherapies are under investigation for the treatment of cognitive dysfunction experienced by cancer patients. Recent data from clinical trials is reviewed involving the stimulants modafinil and methylphenidate, mood stabiliser lithium, anti-Alzheimer's drugs memantine and donepezil, as well as other agents which are currently being explored within dementia, animal, and cell culture models to evaluate their use in treating cognitive dysfunction