[Cost-effectiveness in Dutch mental health care: future because of ROM?]. / Doelmatigheid in de ggz: toekomst dankzij ROM?

BACKGROUND: The document reporting Dutch mental health care negotiations for 2014-2017 calls for a cost decrease based on cost-effectiveness. Thanks to ROM, the Dutch mental health care seems well prepared for cost-effectiveness research. AIM: Evaluate how valid cost-effectiveness research should be established in mental health care and the role of rom therein. METHOD: Evaluation of requirements of cost-effectiveness research, trends, and a translation to Dutch mental health care. RESULTS: Valid cost-effectiveness research in mental health care requires the application of a societal perspective, a long time-horizon and an adequate evaluation of quality of life of patients. Healthcare consumption, outcome of care and characterisation of the patient population should be measured systematically and continuously. Currently, rom-data are not suitable to serve as a basis for cost-effectiveness research, although a proper basis is present. Further development of rom could lead to a situation in which mental health care is purchased on the basis of cost-effectiveness. However, cost-effectiveness will only really be improved if quality of care is rewarded, rather than rewarding activities that are not always related to outcome of care. CONCLUSION: Cost-effectiveness research in mental health care should focus on societal costs and benefits, quality of life and a long time-horizon. If developed further, rom has the potential to be a basis for cost-effectiveness research in the future.

[ROM and the position of the health insurance companies]. / ROM en positie van de zorgverzekeraars.

BACKGROUND: Up till 2008 the Dutch mental health services came under the Dutch General Law on Special Medical Costs (AWBZ). Health insurers regarded the mental health services as 'black box'. In 2008 the mental health services were transferred to the basic health insurance system and the health insurers became responsible for the healthcare purchasing services. In the same year the mental health services began to use ROM to measure the effects of treatment and thereby improve the quality of treatment. AIM: To clarify the use that the insurers make of ROM. METHOD: The developments in this field are described. RESULTS: The feedback supplied by ROM enables therapists to improve treatment. An additional benefit is that the mental health services are then in a position to improve quality at aggregate level and compare their own results with those of others. Nationally, ROM can provide health insurers with information about treatment quality in combination with the Consumer Quality Index (CQI), and national 'benchmarks' can be implemented. To facilitate the interpretation of these rom data the health insurers set up the independent foundation, Stichting Benchmark GGZ (mental health care), in which GGZ Nederland has participated since 2010. CONCLUSION: ROM provides therapists with a means for improving treatment and provides insurers with a means by which they can express their views about the quality of the mental health services at aggregate level.

The molecular basis of the folate-sensitive fragile site FRA11A at 11q13.

We report on the molecular basis of the rare, folate-sensitive fragile site FRA11A in chromosome band 11q13 in a family with cytogenetic expression. Five individuals express the fragile site and one was mentally retarded. Expansion of a polymorphic CGG-repeat located at the 5' end of the C11orf80 gene causes FRA11A. The CGG-repeat elongation coincides with hypermethylation of the adjacent CpG island and subsequent transcriptional silencing of the C11orf80 gene. This gene has no homology with known genes. A relationship between cytogenetic expression of the fragile site and the mental handicap seems unlikely, as FRA11A was found in a mentally retarded patient as well as in phenotypically normal carriers from the same family. However, incomplete penetrance cannot be entirely excluded.

Deletions at chromosome regions 7q11.23 and 7q36 in a patient with Williams syndrome.

We report on a patient with Williams syndrome and a complex de novo chromosome rearrangement, including microdeletions at 7q11.23 and 7q36 and additional chromosomal material at 7q36. The nature of this additional material was elucidated by spectral karyotyping and first assigned to chromosome 22. Subsequent fluorescence in situ hybridization (FISH) experiments showed that it consisted of satellite material only. Refinement of the 7q36 breakpoint was performed with several FISH probes, showing a deletion distal to the triphalangeal thumb (TPT) region. The phenotype of the patient principally results from the microdeletion of the 7q11.23; the small deletion at 7qter and the extra satellite material may not be of clinical significance.

Descriptors for isomer resolution of (bio-) distribution of chlorinated aromatic compounds.

Both Solubility Parameter (SOLPAR) and Linear Solvation Energy Relationship (LSER) theory utilize molar volume and energies as descriptors for distribution phenomena. They provide powerful methods for the prediction of the GLC retention indices of chlorobenzenes (CBzs) and tetrachlorodibenzo[p]dioxins (TCDDs). Almost complete isomer resolution is obtained with correlation coefficients (r) of greater than or equal to 0.9984 (CBzs) and greater than or equal to 0.9839 (TCDDs). The n-octanol/water partition coefficient (log Kow) of CBzs can be calculated with a standard error of regression of 0.04, which compares favourably with standard deviations of 0.03-0.26 in mean values based on four different experimental methods. The HPLC capacity factor of TCDDs on C18 columns can be predicted by SOLPAR with moderate accuracy (r = 0.9470), allowing for a preliminary calculation of log Kow. A simplified LSER method fails.

Multiplex ligation-dependent probe amplification to detect subtelomeric rearrangements in routine diagnostics.

Subtelomeric rearrangements are believed to be responsible for 5-7% of idiopathic mental retardation cases. Due to the relative complexity and high cost of the screening methods used till now, only preselected patient populations including mostly the more severely affected cases have been screened. Recently, multiplex ligation-dependent probe amplification (MLPA) has been adapted for use in subtelomeric screening, and we have incorporated this technique into routine diagnostics of our laboratory. Since the evaluation of MLPA as a screening method, we tested 275 unselected patients with idiopathic mental retardation and detected 12 possible subtelomeric aberrations: a der(11)t(11;20)(qter;qter), a 19pter duplication, a der(18)t(18;10)(qter; pter), a 15qter deletion, a 8pter deletion, a 6qter deletion, a der(X)t(X;1)(pter;qter), a der(X)t(X;3)(pter;pter), a 5qter duplication, a 3pter deletion, and two 3qter duplications. The patients can be subdivided into two groups: the first containing de novo rearrangements that are likely related to the clinical presentation of the patient and the second including aberrations also present in one of the parents that may or may not be causative of the mental retardation. In our patient cohort, five (1.8%) subtelomeric rearrangements were de novo, three (1.1%) rearrangements were familial and suggestively disease causing, and four (1.5%) were possible polymorphisms. This high frequency of subtelomeric abnormalities detected in an unselected population warrants further investigation about the feasibility of routine screening for subtelomeric aberrations in mentally retarded patients.