Patient-reported outcome measurements (PROMs) and provider assessment in mental health: a systematic review of the context of implementation.

PURPOSE: To review and integrate the vast amount of literature yielded by recent growing interest in patient-reported outcome measurement and routine outcome measures (PROMs/ROMs), in order to suggest options and improvements for implementation. PROMs are the systematic assessment of service users' health using standardized self-report measures. Specifically, for ROMs, it includes routine provider or caretaker assessment measures. Both are administered to ascertain routinely, the impact of treatment in mental health settings and to improve care. A review is needed because of the large differences in setting, conceptualization, practice and implementation. Here, we examine the different major projects worldwide. DATA SOURCES: Psych INFO and PubMed including Medline, Biomed Central, EMBASE Psychiatry and Elsevier Science's Direct. STUDY SELECTION: We conducted a systematized review of the literature published from 2000 to 2018 on the implementation and sustainability of PROMs and ROMs in mental health services for adults. DATA EXTRACTION, SYNTHESIS AND RESULTS: We described and characterized the programs in different countries worldwide. We identified 103 articles that met the inclusion criteria, representing over 80 PROMs/ROMs initiatives in 15 countries. National policy and structure of mental health services were found to be major factors in implementation. We discuss the great variability in PROMs/ROMs models in different countries, making suggestions for their streamlining and improvement. CONCLUSION: We extracted valuable information on the different characteristics of the numerous PROMs/ROMs initiatives worldwide. However, in the absence of a strong nationwide policy effort and support, implementation seems scattered and irregular. Thus, development of the implementation of PROMs/ROMs is left to groups of enthusiastic clinicians and researchers, making sustainability problematic.

A systematic review of patient-reported outcome measurement (PROM) and provider assessment in mental health: goals, implementation, setting, measurement characteristics and barriers.

PURPOSE: To review and integrate the literature on mental-health-related patient-reported outcome measures (PROMs) and routine outcome measures (ROMs), namely in the domains of goals, characteristics, implementation, settings, measurements and barriers. PROM/ROM aims mainly to ascertain treatment impact in routine clinical practice through systematic service users' health assessment using standardized self-report, caretaker and/or provider assessment. DATA SOURCES: Psych INFO and PubMed including Medline, Biomed Central, EMBASE Psychiatry and Elsevier Science's Direct. STUDY SELECTION: Systemized review of literature (2000-2018) on implementation and sustainability of PROMs/ROMs in adult mental health settings (MHS). DATA EXTRACTION AND SYNTHESIS: Systemized review of literature (2000-2018) on numerous aspects of PROM/ROM implementation and sustainability in adult MHS worldwide. RESULTS: Based on 103 articles, PROMs/ROMs were implemented mostly in outpatient settings for people with assorted mental health disorders receiving a diversity of services. Frequency of assessments and completion rates varied: one-third of projects had provider assessments; about half had both provider and self-assessments. Barriers to implementation: perceptions that PROM/ROM is intrusive to clinical practice, lack of infrastructure, fear that results may be used for cost containment and service eligibility instead of service quality improvement, difficulties with measures, ethical and confidentiality regulations and web security data management regulations. CONCLUSION: Improving data input systems, sufficient training, regular feedback, measures to increase administrative and logistic support to improve implementation, acceptability, feasibility and sustainability, follow-up assessments and client attrition rate reduction efforts are only some measures needed to enhance PROM/ROM efficiency and efficacy.

Relationship of electrophysiological dysfunction and clinical severity in SCN2A-related epilepsies.

Variants in the SCN2A gene cause a broad spectrum of epilepsy syndromes of variable severity including benign neonatal-infantile epilepsy (BFNIE), developmental and epileptic encephalopathies (DEE), and other neuropsychiatric disorders. Here, we studied three newly identified variants, which caused distinct phenotypes observed in nine affected individuals of three families, including BFNIE, and DEE with intractable neonatal seizures. Whole cell patch-clamp recordings of transfected tsA201 cells disclosed an increased current density and an increased subthreshold sodium inward current upon an action potential stimulus (p.(Lys908Glu)), a hyperpolarizing shift of the activation curve (p.(Val208Glu) and p.(Thr773Ile)), and an increased persistent current (p.(Thr773Ile)). To evaluate genotype-phenotype correlations, we next developed scoring systems for both the extent of the electrophysiological dysfunction and the severity of the clinical phenotype and applied those to 21 previously and newly functionally characterized SCN2A variants. All inherited variants were associated with a mild clinical phenotype and a lower electrophysiological score compared to those occurring de novo and causing severe phenotypes. Our results thus reveal a nice correlation between the extent of channel dysfunction and the clinical severity.

First Case of a Dominant De Novo SEC23A Mutation with Neurological and Psychiatric Features: New Insights into Cranio-Lenticulo-Sutural Dysplasia with Literature Review.

Cranio-lenticulo-sutural dysplasia (CLSD, OMIM #607812) is a rare genetic condition characterized by late-closing fontanels, skeletal defects, dysmorphisms, and congenital cataracts that are caused by bi-allelic or monoallelic variants in the SEC23A gene. Autosomal recessive inheritance (AR-CLSD) has been extensively documented in several cases with homozygous or compound heterozygous variants in SEC23A, whereas autosomal dominant inheritance (AD-CLSD) involving heterozygous inherited variants has been reported just in three patients. The SEC23A gene encodes for one of the main components of a protein coat complex known as coat-protein-complex II (COPII), responsible for the generation of the envelope of the vesicles exported from the endoplasmic reticulum (ER) toward the Golgi complex (GC). AR-CLSD and AD-CLSD exhibit common features, although each form also presents distinctive and peculiar characteristics. Herein, we describe a rare case of a 10-year-old boy with a history of an anterior fontanel that closed only at the age of 9. The patient presents with short proportionate stature, low weight, and neurological impairment, including intellectual disability, global developmental delay, abnormal coordination, dystonia, and motor tics, along with dysmorphisms such as a wide anterior fontanel, hypertelorism, frontal bossing, broad nose, high-arched palate, and micrognathia. Trio clinical exome was performed, and a de novo heterozygous missense variant in SEC23A (p.Arg716Cys) was identified. This is the first reported case of CLSD caused by a de novo heterozygous missense variant in SEC23A presenting specific neurological manifestations never described before. For the first time, we have conducted a comprehensive phenotype-genotype correlation using data from our patient and the eight most well-documented cases in the literature. Our work has allowed us to identify the main specific and characteristic signs of both forms of CLSD (AR-CLSD, AD CLSD), offering valuable insights that can guide physicians in the diagnostic process. Notably, detailed descriptions of neurological features such as intellectual disability, global developmental delay, and motor impairment have not been documented before. Furthermore, our literature overview is crucial in the current landscape of CLSD due to the absence of guidelines for the clinical diagnosis and proper follow-up of these patients, especially during childhood.

Climate change in estuarine systems: Patterns and gaps using a meta-analysis approach.

Although regional studies and projections suggest the deterioration of estuaries as a consequence of climate change, it is still difficult to fully understand the importance of such changes in estuarine systems. This limitation is particularly important considering their high dynamism and the lack of temporally extended in situ databases with a good spatial coverage for these systems worldwide. Furthermore, contradictory patterns have been observed across the globe. Motivated by these issues, in this study we question the availability of in situ observational evidence of climate change in estuarine systems through a detailed meta-analysis of existing publications. A topic-related search considering the outputs of the Web of Science library was conducted in order to obtain a characterization of the existing studies on climate change in estuarine systems. Results confirmed that climate change has increasingly been studied since 2000 and that marine climate change constituted the focus of 9.69 % of those studies. From these, only 9.30 % encompassed estuarine studies and just 1.13 % used in situ observations from estuarine systems (i.e., 0.11 % of the total climate change publications). Reanalysis products were the most used tools to assess changes in estuarine systems and sea temperature was the most analyzed variable. These results highlight the need to further address such questions using in situ observational data and to implement long-term observatories to fully identify evidence of climate change in estuarine systems, supporting modelling approaches and promoting the development of effective mitigation plans.

Outdoor Radon as a Tool to Estimate Radon Priority Areas-A Literature Overview.

Doses from the exposure to outdoor radon are typically an order of magnitude smaller than those from indoor radon, causing a greater interest on investigation of the latter for radiation protection issues. As a consequence, assessment of radon priority areas (RPA) is mainly based on indoor radon measurements. Outdoor radon measurements might be needed to guarantee a complete estimation of radiological risk and may help to improve the estimation of RPA. Therefore, authors have analysed the available literature on outdoor radon to give an overview of outdoor radon surveys and potential correlation with indoor radon and estimation of RPA. The review has shown that outdoor radon surveys were performed at much smaller scale compared to indoor radon. Only a few outdoor radon maps were produced, with a much smaller density, covering a larger area, and therefore putting doubt on the representativeness of this data. Due to a large variety of techniques used for outdoor radon measurements and requirement to have detectors with a high sensitivity and resistance to harsh environmental conditions, a standardised measurement protocol should be derived. This is no simple endeavour since there are more applications in different scientific disciplines for outdoor radon measurements compared to indoor radon.

Diagnosing Internal Herniation After Roux-en-Y Gastric Bypass Surgery: Literature Overview, Cadaver Study and the Added Value of 3D CT Angiography.

PURPOSE: The purposes of the study are to outline the complexity of diagnosing internal herniation after Roux-en-Y gastric bypass (RYGB) surgery and to investigate the added value of computed tomography angiography (CTA) for diagnosing internal herniation. MATERIALS AND METHODS: A cadaver study was performed to investigate the manifestations of internal hernias and mesenteric vascularization. Furthermore, a prospective, ethics approved study with retrospective interpretation was conducted. Ten patients, clinically suspected for internal herniation, were prospectively included. After informed consent was obtained, these subjects underwent abdominal CT examination, including additional arterial phase CTA. All subjects underwent diagnostic laparoscopy for suspected internal herniation. The CTA was used to create a 3D reconstruction of the mesenteric arteries and surgical staples (3D CTA). The 3D CTA was interpreted, taking into account the presence and type of internal hernia that was found upon laparoscopy. RESULTS: Cadaveric analysis demonstrated the complexity of internal herniation. It also confirmed the expected changes in vascular structure and surgical staple arrangement in the presence of internal herniation. 3D CTA studies of the subjects with active internal hernias demonstrated remarkable differences when compared to control 3D CTA studies. The blood supply of herniated intestinal limbs in particular showed abnormal trajectories. Additionally, enteroenterostomy staple lines had migrated or altered orientation. CONCLUSION: 3D CTA is a promising technique for diagnosing active internal hernias. Our findings suggest that for diagnosing internal hernias, focus should probably shift from routine abdominal CT examination towards the 3D assessment of the mesenteric vasculature and surgical staples.

Autism in adult and juvenile delinquents: a literature review.

BACKGROUND: Here we present an overview of the literature on autism in adult and juvenile delinquents. We analyzed both the prevalence of autism spectrum disorders (ASD) in groups of delinquents and the prevalence of offending in people with ASD. There is a high prevalence of psychiatric disorders amongst people in custody, but there is disagreement about the prevalence of ASD in this population. Some studies have found overrepresentation of people with ASD in forensic populations whereas others have found that people with ASD have a similar rate of offending to the general population. METHODS: We carried out a systematic search of literature published between 1990 and 2016 and identified studies on the co-occurrence of autism and delinquency using standard search engines. RESULTS: The prevalence of delinquency in the ASD population varied from 5 to 26%, whilst ASD was found in 2-18% of the forensic populations studied. The reported prevalence of ASD in delinquents and of offending in people with ASD varied widely. This might be due to the use of different diagnostic instruments, the diversity of the samples, the high rate of comorbid psychiatric disorders and the various types of offending behavior. CONCLUSIONS: We cannot conclude from our analysis that people with ASD are more likely to offend than the general population.

Childhood Thyroid Function Reference Ranges and Determinants: A Literature Overview and a Prospective Cohort Study.

BACKGROUND: Reported cutoffs for childhood thyrotropin (TSH) and free thyroxine (fT4) reference ranges vary widely, and knowledge on the determinants of childhood thyroid function is sparse. This study aimed to summarize the existing studies on thyroid function reference ranges in children. Furthermore, the objective was to investigate the determinants of childhood TSH and fT4 concentration in a population based-prospective cohort. METHODS: First, to identify studies on childhood thyroid reference ranges, The National Library of Medicine's PubMed, Embase, Ovid Medline, Web of Science, and Google Scholar databases were systematically searched. Second, in a non-selected sample of 4273 children (median age 6.0 years, range 4.9-9.1 years) from the cohort, the associations of age, sex, anthropometric characteristics, ethnicity, maternal education, and time and season at venipuncture were studied with TSH and fT4 concentrations. The study also investigated to what extent between-individual variations in the determinants of TSH and fT4 could influence the calculation of reference ranges. RESULTS: Published reference ranges for TSH and fT4 differ per age range and within age ranges (cutoffs low TSH: 0.13 to >1 mIU/L; high TSH: 2.36 to >10 mIU/L; low fT4: 7.0 to >10 pmol/L; high fT4: 15.5 to >30 pmol/L). In the present cohort, weight, sex, and ethnicity were determinants of TSH (p ≤ 0.03) and fT4 concentrations (p ≤ 0.01), and height and time at venipuncture were determinants of TSH only (p < 0.0001). The between-individual variation depending on clinical determinants for TSH ranged between 0.64 and 0.96 mIU/L (total population 0.87 mIU/L) for the lower limit and 4.30 and 5.62 mIU/L (total population 5.20 mIU/L) for the upper limit, whereas for fT4, the lower limit ranged between 13.6 and 14.2 pmol/L (total population 13.8 pmol/L) and the upper limit ranged between 20.2 and 23.0 pmol/L (total population 20.8 pmol/L). CONCLUSIONS: Considerable differences exist in the reported reference ranges for childhood TSH and fT4 across and within age ranges and assays. The present cohort shows only a minimal association between TSH and fT4, suggesting that the hypothalamus-pituitary-thyroid axis remains unaffected by thyroid interfering factors. Various determinants of TSH and fT4 in children were identified, which accounted for a considerable variation of reference range cutoffs.

Influence diagram of physiological and environmental factors affecting heart rate variability: an extended literature overview.

Heart rate variability (HRV) corresponds to the adaptation of the heart to any stimulus. In fact, among the pathologies affecting HRV the most, there are the cardiovascular diseases and depressive disorders, which are associated with high medical cost in Western societies. Consequently, HRV is now widely used as an index of health. In order to better understand how this adaptation takes place, it is necessary to examine which factors directly influence HRV, whether they have a physiological or environmental origin. The primary objective of this research is therefore to conduct a literature review in order to get a comprehensive overview of the subject. The system of these factors affecting HRV can be divided into the following five categories: physiological and pathological factors, environmental factors, lifestyle factors, non-modifiable factors and effects. The direct interrelationships between these factors and HRV can be regrouped into an influence diagram. This diagram can therefore serve as a basis to improve daily clinical practice as well as help design even more precise research protocols.

Indications for lumbar total disc replacement: selecting the right patient with the right indication for the right total disc.

SUMMARY OF BACKGROUND DATA: As with any surgery, care should be taken to determine patient selection criteria for lumbar TDR based on safety and optimizing outcome. These goals may initially be addressed by analyzing biomechanical implant function and early clinical experience, ongoing evaluation is needed to refine indications. OBJECTIVE: The purpose of this work was to synthesize information published on general indications for lumbar TDR. A secondary objective was to determine if indications vary for different TDR designs. METHODS: A comprehensive literature search was conducted to identify lumbar TDR articles. Articles were reviewed and patient selection criteria and indications were synthesized. RESULTS: With respect to safety, there was good agreement in the literature to exclude patients with osteopenia/osteoporosis or fracture. Risk of injury to vascular structures due to the anterior approach was often addressed by excluding patients with previous abdominal surgery in the area of disc pathology or increased age. The literature was very consistent on the primary indication for TDR being painful disc degeneration unresponsive to at least 6 months of nonoperative care. Literature investigating the impact of previous spine surgery was mixed; however, prior surgery was not necessarily a contra-indication, provided the patient otherwise met selection criteria. The literature was mixed on setting a minimum preoperative disc height as a selection criterion. There were no publications investigating whether some patients are better/worse candidates for specific TDR designs. Based on the literature a proposal for patient selection criteria is offered. CONCLUSIONS: Several TDR indications and contra-indications are widely accepted. No literature addresses particular TDR design being preferable for some patients. As with any spine surgery, ongoing evaluation of TDR outcomes will likely lead to more detailed general and device design specific indications.

Breast phyllodes tumor: a review of literature and a single center retrospective series analysis.

PURPOSE: Complete surgical resection is the standard treatment for localized breast phyllodes tumors. Post-surgical treatments are still a matter of debate. We carried out an overview of the literature to investigate the clinical outcome of patients with phyllodes tumor. A retrospective analysis of mono-institutional series has been included as well. METHODS: We reviewed all the retrospective series reported from 1951 until April 2012. We analyzed cases treated at our institution from 1999 to 2010. RESULTS: Eighty-three articles (5530 patients; 1956 malignant tumors) were reviewed. Local recurrences were independent of histology. Distant recurrences were more frequent in the malignant tumors (22%). A total of 172 phyllodes tumors were included in the retrospective analysis. DISCUSSION: Prognosis of phyllodes tumors is excellent. There are no convincing data to recommend any adjuvant treatment after surgery. Molecular characterization may well provide new clues to permit identification of active treatments for the rare poor prognosis cases.