Looking at possibilities:research into assessment of people with profound intellectual and multiple disabilities

Through assessment, an overview of the needs, wishes and abilities of people with profound intellectual and multiple disabilities (PIMD) can be obtained, which can then be used to attune support to the individual. This study focused on an inventory of assessment practices for this group, using an online survey for professionals who work with people with PIMD. Next, a literature search was performed to find information about the quality of the assessment methods used by professionals. In addition, this study aimed to analyse the measurement quality of two instruments that have been developed for people with PIMD: the Behavioural Appraisal Scales (BAS) and the Inventory of the personal Profile and Support (IPS). To this end, the BAS scores of children and adults with PIMD were analysed. Furthermore, an expert panel assessed whether adaptations of the BAS were necessary and, if so, which ones. For the IPS analysis, the professionals filled in a questionnaire about the feasibility and content validity of the IPS. From this study, it could be concluded that a wide range of different instruments are used, but little is often known about their measurement quality. Besides, instruments that have been studied and deemed to be good quality are not always used in practice. Another conclusion was that using a combination of the IPS and BAS led to an adequate representation of the wishes, needs and abilities of a person with PIMD. After adaptations, the applicability and measurement quality of the BAS was assessed as good. With this instrument, the functional abilities of people with PIMD can be assessed in order to support development

Inventory of assessment practices in people with profound intellectual and multiple disabilities in three European countries

BACKGROUND: Knowledge about the quality of assessment methods used in the support of people with profound intellectual and multiple disabilities (PIMD) is scarce. This study aimed to provide an overview of the assessment methods used in practice and to examine whether these instruments were studied for their psychometric properties for people with PIMD. METHOD: Professionals (N = 148) from three European countries completed a survey on assessment practices. We performed a literature search to find information about the psychometric properties of the instruments that were identified in the survey. RESULTS: Of the participants, 78.1% used assessments that were not developed for people with PIMD. Documentation on psychometric properties was found for 8 out of 116 instruments. CONCLUSIONS: Most of the instruments in use were not designed for people with PIMD, and information about their quality is lacking. Guidelines are needed regarding the use and development of assessment methods for people with PIMD

The content validity of the Behavioural Appraisal Scales in people with profound intellectual and multiple disabilities:A Delphi study

The Behavioural Appraisal Scales (BAS) were developed in The Netherlands to assess functional abilities of people with profound intellectual and multiple disabilities (PIMD). It is recommended that further studies examine the psychometric properties of the BAS. The aim of this study was to evaluate and, if necessary, improve the content validity of the BAS. A two-round Delphi study was used. In Round 1, parents, researchers and practice professionals indicated for each item whether they would retain, adapt or remove it, explaining their answers. The BAS were adapted based on this feedback. In Round 2, participants were given the adapted version and asked to indicate for each item whether they wanted to retain or remove it, again providing an explanation. Feedback was analysed by calculating the percentage of participants who wanted to retain, adapt or remove a certain item. Content analysis was used to analyse participants' explanations. In Round 1, more than 20% of the participants wanted to remove 11 from the 122 items, and wanted to retain or adapt the remaining items. Seven categories of adaptations emerged: (1) feasibility, (2) the construct the item measures, (3) applicability, (4) similarity among items, (5) splitting items, (6) reassignment and (7) the professionals who score the items. In Round 2, for all items >80% of the participants indicated they wanted to retain the item. Experts felt that the content validity of the BAS could be improved. After the adaptations, the content validity was evaluated as good. Further studies are needed to evaluate whether the new or adapted items are not too easy or too difficult, whether information from different informant groups results in being scored differently, and to evaluate possible differential item functioning

Validity of an instrument that assesses functional abilities in people with profound intellectual and multiple disabilities:Look what I can do!

Background: Research about the psychometric properties of the Behavioural Appraisal Scales (BAS) in people with profound intellectual and multiple disabilities (PIMD) is limited. This study evaluates invariance in factor structure, item bias and convergent validity of the BAS. Methods: Data on the BAS from two studies (n = 25; n = 52) were analysed using the oblique multiple group method. The scale structure and item ordering were compared in the two groups. Convergent validity was assessed by correlating scores on the BAS with scores on two other instruments. Results: Of all items, 16–18% correlated stronger with other subscales of the BAS than the subscale they were originally assigned to. Scale structure and order of difficulty differed between groups. Correlations between the BAS and two other instruments varied from low to excellent (r = .48–.85). Conclusions: The results support the construct validity of the BAS. Removing, reassigning and adapting items may enhance construct validity

Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3

Spondylocarpotarsal synostosis syndrome (SCTS) is characterized by intervertebral fusions and fusion of the carpal and tarsal bones. Biallelic mutations in FLNB cause this condition in some families, whereas monoallelic variants in MYH3, encoding embryonic heavy chain myosin 3, have been implicated in dominantly inherited forms of the disorder. Here, five individuals without FLNB mutations from three families were hypothesized to be affected by recessive SCTS on account of sibling recurrence of the phenotype. Initial whole-exome sequencing (WES) showed that all five were heterozygous for one of two independent splice-site variants in MYH3. Despite evidence indicating that three of the five individuals shared two allelic haplotypes encompassing MYH3, no second variant could be located in the WES datasets. Subsequent genome sequencing of these three individuals demonstrated a variant altering a 5' UTR splice donor site (rs557849165 in MYH3) not represented by exome-capture platforms. When the cohort was expanded to 16 SCTS-affected individuals without FLNB mutations, nine had truncating mutations transmitted by unaffected parents, and six inherited the rs557849165 variant in trans, an observation at odds with the population allele frequency for this variant. The rs557849165 variant disrupts splicing in the 5' UTR but is still permissive of MYH3 translational initiation, albeit with reduced efficiency. Although some MYH3 variants cause dominant SCTS, these data indicate that others (notably truncating variants) do not, except in the context of compound heterozygosity for a second hypomorphic allele. These observations make genetic diagnosis challenging in the context of simplex presentations of the disorder

Dose-response effect of Gelofusine on renal uptake and retention of radiolabelled octreotate in rats with CA20948 tumours

Purpose: Peptide receptor radionuclide therapy using β-emitting radiolabelled somatostatin analogues like DOTA,Tyr3-octreotate shows beneficial results in patients suffering from somatostatin receptor overexpressing tumours. However, after high-dose therapy partial renal reabsorption of radiopeptides may lead to nephrotoxicity. Co-infusion of lysine/arginine lowers renal retention of these radiopeptides without affecting tumour uptake. Recently co-administration of Gelofusine has been described to have a comparable kidney-protecting effect in rats. In the present study optimal dosing of Gelofusine co-administration was studied in tumour-bearing rats. Methods: Doses of 40, 80, 120 or 160 mg/kg Gelofusine were co-injected with 15 μg DOTA,Tyr3-octreotate, labelled with 3 MBq111In for biodistribution (24 h post-injection, n=4 per group) and with 60 MBq111In for microSPECT imaging experiments at 3, 24 and 48 h post-injection. An additional group of rats received 80 mg/kg Gelofusine plus 400 mg/kg lysine co-injection. Biodistribution studies were performed both in older (475 g) and younger (300 g) rats, the latter bearing CA20948 tumours. Results: Co-injection of 40 mg/kg Gelofusine resulted in 40-50% reduction of renal uptake and retention of111In-DOTA,Tyr3-octreotate, whereas higher doses further increased the reduction to 50-60% in both groups of rats. Combining Gelofusine and lysine caused 70% reduction of renal uptake. The uptake of radiolabelled octreotate both in somatostatin receptor-expressing normal tissues and tumours was not affected by Gelofusine co-injection. Conclusion: In rats co-injection of 80 mg/kg Gelofusine resulted in maximum reduction of renal retention of111In-DOTA,Tyr3- octreotate, which was further improved when combined with lysine. Tumour uptake of radiolabelled octreotate was not affected, resulting in an increased tumour to kidney ratio