Development of the Mental Imagery Scale for Preschool Children using Classical Test Theory and Item Response Theory

This study aimed to develop a measure of mental imagery evaluation in preschool children. Three studies were conducted: Study 1 focused on the exploration of the factorial structure, reliability, and Item Response Theory (IRT) discrimination on a sample of children from 4 to 5 years old (N = 100; 50% males and 50% females); Study 2 focused on the confirmation of results about dimensionality on a sample of children from 4 to 7 years old (N = 170; 50% males and 50% females); and Study 3 focused on verifying criterion validity on a sample of children from 4 to 5 years old (N = 70; 47.1% males and 52.9% females). The results confirmed the hypothesis of three reliable factors underlying the scale for the three tasks: Blind Touch, Are Letters and Forms Similar?, and Snail’s Walk. Findings from item parameterization showed a reasonably good discrimination power and low difficulty. Overall, our research has shown that the Mental Imagery Scale for Preschool Children (MIS-PC) is a valuable tool for measuring preschoolers’ mental imagery and encourages its application in the educational context

Mental Images and School Learning: A Longitudinal Study on Children

Recent literature have underlined the connections between children’s reading skills and capacity to create and use mental representations or mental images; furthermore data highlighted the involvement of visuospatial abilities both during math learning and during subsequent developmental phases in performing math tasks. The present research adopted a longitudinal design to assess whether the processes of mental imagery in preschoolers (ages 4–5 years) are predictive of mathematics skills, writing and reading, in the early years of primary school (ages 6–7 years). The research lasted for two school years; in the first phase, the general group of participants consisted of 100 children, and although all participants agreed to be part of the research, in the second phase, there was a mortality rate of 30%. In order to measure school learning and mental imagery processes four batteries of tests were used. The mental imagery battery evaluated mental generation, inspection and transformation processes. Data underlined that the different aspects in which mental imagery processes are articulated are differently implied in some skills that constitute school learning. These findings emphasize the potential usefulness of a screening for mental imagery ability for schoolchildren to adopt effective measures to increase their mental imagery abilities

Evolving trend in the management of heterozygous familial hypercholesterolemia in Italy: a retrospective, single center, observational study

Background and aims: The effective reduction of LDL-C in patients with heterozygous familial hypercholesterolemia (HeFH) is crucial to reduce their increased cardiovascular risk. Diagnostic and therapeutic (PCSK9 inhibitors) tools to manage HeFH improved in recent years. However, the impact of these progresses in ameliorating the contemporary real-world care of these patients remains to be determined. Aim of this study was to assess the evolution of treatments and LDL-C control in a cohort of HeFH patients in Italy. Methods and results: Four hundred six clinically diagnosed HeFH followed in a single, tertiary lipid centre were included in this survey. Data on lipid levels and medications were collected at baseline and during a median 3-year follow-up. At baseline, 19.8% of patients were receiving conventional high-potency lipid lowering therapies (LLT) and this percentage increased up to 50.8% at last visit. The knowledge of results of molecular diagnosis was associated with a significant increase in treatment intensity and LDL-C lowering. Nevertheless, the new LDL-C target (<70 mg/dl) was achieved only in 3.6% of HeFH patients under conventional LLTs and this proportion remained low (2.9%) also in those exposed to maximal conventional LLT. In 51 patients prescribed with PCSK9 inhibitors, 64.6% and 62.1% reached LDL-C<70 mg/dl at 3- and 12-month follow-up, respectively. Conclusions: Although treatments of HeFH improved over time, LDL-C target achievement with conventional LLT remains poor, mainly among women. The use of molecular diagnosis and even more the prescription of PCSK9i may improve LDL-C control in these patients

Variables influencing quality of life and disability in Charcot Marie Tooth (CMT) patients: Italian multicentre study

The purpose of this study was to assess the variables that influence quality of life (QoL) and disability in patients with Charcot-Marie-Tooth disease (CMT). We performed a prospective multicentre study using validated clinical disability and QoL measurements. Multivariate analysis was performed using QoL as a dependent variable and duration of symptoms, age, gender and CMT type, depression and disability measurements as independent variables. We enrolled 211 patients. QoL was highly significantly deteriorated with respect to the Italian normative sample. The physical aspect of QoL was mainly related to disability but it does not increase with the age, probably because of an adaptation between expectation and reality. The mental QoL is influenced by depression (hence we have to consider this aspect approaching CMT patients). Moreover, we observed that women complained of more severe symptoms than men. Finally, some CMT subtypes are related to more severe bodily pain symptoms than others. Multiperspective assessment of CMT showed new aspects of this disease, mainly regarding (1) differences between men and women and (2) the crucial role of pain and depression

Relationship between clinical examination, Quality of Life, disability and depression in CMT patients: Italian Multicenter study

OBJECTIVE: To assess which are the clinical examination tests that are more related to quality of life (QoL), depression, and disability in CMT patients. DESIGN: Large prospective multicenter study through the use of validated clinical, disability, and QoL measurements. Correlations between clinical pattern and disability/QoL and depression were studied. SETTING: Departments of Neurology. PATIENTS AND PARTICIPANTS: 211 CMT patients (60% females, mean age 42.5 years). INTERVENTIONS: None. MEASUREMENTS AND RESULTS: Sensory function was related to both mental and physical aspects of patient's QoL. Ability to walk on toes and heels was related to physical aspects of QoL/disability but also to bodily pain. Strength of forearm/hand intrinsic muscles was related to disability and physical aspects of QoL. CONCLUSIONS: Some clinical tests may be better outcome measures than others because they are related to aspects of life highly relevant to the patients. This information may be useful in clinical practice and in clinical trials to infer the patient's QoL

Refinement of pathogenicity classification of variants associated with familial hypercholesterolemia: implications for clinical diagnosis

Background: The lack of functional evidence for most variants detected during the molecular screening of patients with clinical familial hypercholesterolemia (FH) makes the definitive diagnosis difficult. Methods: A total of 552 variants in LDLR, APOB, PCSK9 and LDLRAP1 genes found in 449 mutation-positive FH (FH/M+) patients were considered. Pathogenicity update was performed following the American College of Medical Genetics and Genomics (ACMG) guidelines with additional specifications on copy number variants, functional studies, in silico prediction and co-segregation criteria for LDLR, APOB and PCSK9 genes. Pathogenicity of LDLRAP1 variants was updated by using ACMG criteria with no change to original scoring. Results: After reclassification, the proportion of FH/M+ carriers of pathogenic (P) or likely pathogenic (LP) variants, and FH/M+ carriers of likely benign (LB) or benign (B) variants, was higher than that defined by standard criteria (81.5% vs. 79.7% and 7.1% vs. 2.7%). The refinement of pathogenicity classification also reduced the percentage of FH with variants of uncertain significance (VUS) (17.7% vs. 11.4%). After adjustment, the FH diagnosis by refined criteria best predicted LDL-C levels (Padj <0.001). Notably, FH with VUS variants had higher LDL-C than those with LB (all Padj ≤ 0.033), but similar to those with LP variants. Conclusion: Accurate variant interpretation best predicts the increase of LDL-C levels and shows its clinical utility in the molecular diagnosis of FH

Clinical implications of monogenic versus polygenic hypercholesterolemia: Long-term response to treatment, coronary atherosclerosis burden, and cardiovascular events

BACKGROUND: Familial hypercholesterolemia (FH) may arise from deleterious monogenic variants in FH-causing genes as well as from a polygenic cause. We evaluated the relationships between monogenic FH and polygenic hypercholesterolemia in influencing the long-term response to therapy and the risk of atherosclerosis. METHODS AND RESULTS: A cohort of 370 patients with clinically diagnosed FH were screened for monogenic mutations and a low-density lipoprotein-rising genetic risk score >0.69 to identify polygenic cause. Medical records were reviewed to estimate the response to lipid-lowering therapies and the occurrence of major atherosclerotic cardiovascular events during a median follow-up of 31.0 months. A subgroup of patients (n=119) also underwent coronary computed tomographic angiography for the evaluation of coronary artery calcium score and severity of coronary stenosis as compared with 135 controls. Two hun-dred nine (56.5%) patients with hypercholesterolemia were classified as monogenic (FH/M+), 89 (24.1%) as polygenic, and 72 (19.5%) genetically undefined (FH/M−). The response to lipid-lowering therapy was poorest in monogenic, whereas it was comparable in patients with polygenic hypercholesterolemia and genetically undetermined. Mean coronary artery calcium score and the prevalence of coronary artery calcium >100 units were significantly higher in FH/M+ as compared with both FH/ M− and controls. Finally, after adjustments for confounders, we observed a 5-fold higher risk of incident major atherosclerotic cardiovascular events in FH/M+ (hazard ratio, 4.8; 95% CI, 1.06–21.36; Padj =0.041). CONCLUSIONS: Monogenic cause of FH is associated with lower response to conventional cholesterol-lowering therapies as well as with increased burden of coronary atherosclerosis and risk of atherosclerotic-related events. Genetic testing for hyper-cholesterolemia is helpful in providing important prognostic information