Screeningsinstrument voor Dysfagie bij mensen met een Verstandelijke Beperking (SD-VB)

Doel van de testDit screeningsinstrument helpt om een verhoogd risico op voedings- en slikproblemen (dysfagie) op te sporen bij mensen met een verstandelijke beperking. Het maakt daarvoor niet uit wat de oorzaak is van de beperking, of wat het niveau van de cliënten is.Met behulp van het screeningsinstrument voor dysfagie bij mensen met een verstandelijke beperking (SD-VB) wordt ondersignalering van dysfagie bij mensen met een verstandelijke beperking voorkomen. Een verhoogd risico op dysfagie wordt tijdig in kaart gebracht waardoor adequaat diagnostiek en behandelbeleid kan worden ingezet. Dit leidt tot verlaging van risico’s en verbetering van de kwaliteit van leven.ToepassingsmogelijkhedenDeze handleiding bevat naast de verantwoording van de ontwikkeling en gebruikersinstructies (afname, scoring, interpretatie) ook een beschrijving van het cyclische dysfagiewerkproces waarin het SD-VB idealiter wordt ingezet. Dit proces, beginnend bij het moment van screenen op verhoogd dysfagierisico tot en met het uitvoeren en evalueren van het logopedisch behandelbeleid, is onmisbaar voor goede dysfagiescreening, -diagnostiek en -behandeling in de praktijk.Voor wie?Screenen op dysfagie bij mensen met een verstandelijke beperking. Afname en scoringHet SD-VB bestaat uit 29 ja/nee-vragen over eet- en drinkgedrag. Zorgverleners kunnen dit gemiddeld in vier minuten invullen. Ze hebben hiervoor geen cursus nodig. De interpretatie van de scores is voorbehouden aan logopedisten.MaterialenSD-VB - handleidingSD-VB - scoreformuliere

The Tactual Profile: Development of a procedure to assess the tactual functioning of children who are blind

Contains fulltext : 77264.pdf (publisher's version ) (Closed access)The Tactual Profile assesses tactual functioning of children with severe visual impairments between 0 and 16 years of age. The Tactual Profile consists of 430 items, measuring tactile skills required for performing everyday tasks at home and in school. Items are graded according to age level and divided into three domains: tactual sensory, tactual motor and tactual perceptual. The development of the instrument is described and the psychometric properties that were studied reported. Most items had an acceptable difficulty level, and test—retest reliability proved to be good. The analyses for the construct validity showed moderately high correlations between the Tactual Profile and intelligence tests. These correlations were higher for the haptic performance subtests than for the verbal tests. High correlations with other haptic tests were found. However, these associations disappeared after factoring out intelligence, possibly because current methods for examining tactual functioning are strongly affected by intelligence. A summary of work planned in further development of the procedure is provided

Cardiovascular screening in general practice in a low SES area

<p>Abstract</p> <p>Background</p> <p>Lower social economic status (SES) is related to an elevated cardiovascular (CV) risk. A pro-active primary prevention CV screening approach in general practice (GP) might be effective in a region with a low mean SES. This approach, supported by a regional GP laboratory, was investigated on feasibility, attendance rate and proportion of persons identified with an elevated risk.</p> <p>Methods</p> <p>In a region with a low mean SES, men and women aged ≥50/55 years, respectively, were invited for cardiovascular risk profiling, based on SCORE 10-year risk of fatal cardiovascular disease and additional risk factors (family history, weight and end organ damage). Screening was performed by laboratory personnel, at the GP practice. Treatment advice was based on Dutch GP guidelines for cardiovascular risk management. Response rates were compared to those in five other practices, using the same screening method.</p> <p>Results</p> <p>521 persons received invitations, 354 (68%) were interested, 33 did not attend and 43 were not further analysed because of already known diabetes/cardiovascular disease. Eventually 278 risk profiles were analysed, of which 60% had a low cardiovascular risk (SCORE-risk <5%). From the 40% participants with a SCORE-risk ≥5%, 60% did not receive medication yet for hypertension/hypercholesterolemia. In the other five GPs response rates were comparable to the currently described GP.</p> <p>Conclusion</p> <p>Screening in GP in a low SES area, performed by a laboratory service, was feasible, resulted in high attendance, and identification and treatment advice of many new persons at risk for cardiovascular disease.</p

Targeted sequencing by proximity ligation for comprehensive variant detection and local haplotyping

Despite developments in targeted gene sequencing and whole-genome analysis techniques, the robust detection of all genetic variation, including structural variants, in and around genes of interest and in an allele-specific manner remains a challenge. Here we present targeted locus amplification (TLA), a strategy to selectively amplify and sequence entire genes on the basis of the crosslinking of physically proximal sequences. We show that, unlike other targeted re-sequencing methods, TLA works without detailed prior locus information, as one or a few primer pairs are sufficient for sequencing tens to hundreds of kilobases of surrounding DNA. This enables robust detection of single nucleotide variants, structural variants and gene fusions in clinically relevant genes, including BRCA1 and BRCA2, and enables haplotyping. We show that TLA can also be used to uncover insertion sites and sequences of integrated transgenes and viruses. TLA therefore promises to be a useful method in genetic research and diagnostics when comprehensive or allele-specific genetic information is needed