The ektacytometric elongation Index (EI) of erythrocytes, validation of a prognostic, rheological biomarker for patients with sickle cell disease.

OBJECTIVES: Validation of the measurement of erythrocyte deformability as a useful prognostic, rheological biomarker for patients with sickle cell disease (SCD). METHODS: The degree of reduced deformability was based on the value of the maximum elongation index (EImax ) of the deformability curve of an osmotic gradient ektacytometer. The performance of this technique was analytically and clinically validated by analysing 200 normal subjects and 100 patients with well-documented thalassemia's and Hb variants in relation to their clinical condition. RESULTS: In this study, we show that EImax is a reproducible parameter with a small inter-individual coefficient of (Biological) variation (CV)=1.6% and a small intra-individual CV=3.5%. We demonstrate that loss of deformability correlates with the clinical condition and the various mutations underlying sickle cell disease and thalassemia. For SCD patients, a strongly reduced EImax with a cut-off =0.360 is a signal for future vaso-occlusive (VOC) events requiring hospitalisation with a specificity=85%, sensitivity=80%, PPV=81% and NPV=84% based on a ROC curve (AUC=0.89). CONCLUSION: This study validated the clinical utility of EImax as a prognostic marker for future clinical problems in individual high-risk SCD patients. In addition, EImax may help to achieve an adequate personal transfusion policy for an optimal blood flow in anaemic patients with SCD.

Cognitive behavioral therapy in 22q11.2 deletion syndrome: A case study of two young adults with an anxiety disorder.

BACKGROUND: The prevalence of anxiety disorders is high in 22q11.2 deletion syndrome (22q11.2DS), an under-recognized multisystem condition. Prominent features include an array of somatic, cognitive, and neuropsychiatric disorders. This case study reports for the first time on the application of individual cognitive behavioral therapy in 22q11.2DS. METHOD: Two young adults with 22q11.2DS and an anxiety disorder received cognitive behavioral therapy based on standard protocols. Feasibility and efficacy were assessed through clinical interviews, clinical observations by the therapist, and questionnaires. RESULTS: Both participants were engaged in the therapy and showed understanding of basic cognitive behavioral therapy principles. However, they did not show a clear clinical improvement. Adjustments to the protocol were required, including increased flexibility and a proactive approach by the therapist, additional time per session, written information, and significant involvement of the family and multidisciplinary team. CONCLUSIONS: Our findings may help identify required adaptations to cognitive behavioral therapy protocols for this and similar genetic conditions.

Non-pharmacological treatment of psychiatric disorders in individuals with 22q11.2 deletion syndrome; a systematic review.

22q11.2 deletion syndrome (22q11.2DS) is associated with high rates of anxiety disorders, psychotic disorders, and other psychiatric conditions. In the general population, psychiatric disorders are treated with proven pharmacological and non-pharmacological therapies, such as cognitive behavioral therapy (CBT). To begin to assess the feasibility and efficacy of non-pharmacological therapies in 22q11.2DS, we performed a systematic search to identify literature on non-pharmacological interventions for psychiatric disorders in individuals with 22q11.2DS. Of 1,240 individual publications up to mid-2016 initially identified, 11 met inclusion criteria. There were five literature reviews, five publications reporting original research (two originating from a single study), and one publication not fitting either category that suggested adaptations to an intervention without providing scientific evidence. None of the original research involved direct study of the evidence-based non-pharmacological therapies available for psychiatric disorders. Rather, these four studies involved computer-based or group interventions aimed at improving neuropsychological deficits that may be associated with psychiatric disorders. Although the sample sizes were relatively small (maximum 28 participants in the intervention group), these reports documented the promising feasibility of these interventions, and improvements in domains of neuropsychological functioning, including working memory, attention, and social cognition. The results of this review underline the need for research into the feasibility and efficacy of non-pharmacological treatments of psychiatric disorders in individuals with 22q11.2DS to inform clinical care, using larger samples, and optimally, standard randomized, placebo-controlled, clinical trials methodology.

Internet Safety Issues for Adolescents and Adults with Intellectual Disabilities.

BACKGROUND: Research on Internet safety for adolescents has identified several important issues including unwanted exposure to sexual material and sexual solicitation. METHODS: Although individuals with intellectual disabilities often have poor insight and judgment, and may therefore be at risk for Internet dangers, there is surprisingly little published on this topic. RESULTS: To illustrate Internet dangers that adolescents and adults with intellectual disabilities may face, we report composite case vignettes, based on actual clinical cases of adolescents and adults with 22q11.2 deletion syndrome. CONCLUSION: We encourage clinicians to discuss Internet safety in their practice and provide recommendations for future research subjects.