Parent and self-report health-related quality of life measures in young patients with Tourette syndrome

Tourette syndrome is a neurodevelopmental disorder characterized by tics and comorbid behavioral problems. This study compared child- and parent-reported quality of life and everyday functioning. We assessed 75 children with Tourette syndrome, of which 42 (56%) had comorbid conditions (obsessive-compulsive disorder = 25; attention-deficit hyperactivity disorder = 6; both comorbidities = 4). All patients completed psychometric instruments, including the Gilles de la Tourette Syndrome-Quality of Life Scale for Children and Adolescents (child report) and the Child Tourette's Syndrome Impairment Scale (parent report). Data were compared for patients with pure Tourette syndrome, Tourette syndrome + obsessive-compulsive disorder, Tourette syndrome + attention-deficit hyperactivity disorder, and Tourette syndrome + both comorbidities. There were no group differences in quality of life. However, there were differences for total, school, and home activities impairment scores. Children and parents may not share similar views about the impact of Tourette syndrome on functioning. The measurement of health-related quality of life in Tourette syndrome is more complex in children than adults

Cognitive impairment in children and adolescents with migraine

INTRODUCTION The presence and characteristics of cognitive alterations in children and adolescents affected by migraine have been largely under-investigated. Childhood and adolescence are key periods for personal growth and academic achievements, and migraine-related cognitive deficits may interfere with functioning levels across several settings. A careful analysis of cognitive impairment in the context of migraine is pivotal for making informed decisions on the most appropriate care pathways. METHODS We therefore critically evaluated the results of research studies conducted to date on cognitive function in children and adolescents affected by migraine using the Pubmed database. The literature search was limited to original articles published in English language and focused on current research trends. We operationally defined cognitive processing as the range of individual cognitive functions assessed by neuropsychological studies. Our analysis, which did not include findings on cognitive processing assessed by neurophysiological measures for methodological consistency, led us to formulate the opinion that young patients affected by migraine may present with specific cognitive deficits. RESULTS An early neuropsychological study on young patients with migraine was conducted in 1989 on a group of 20 children affected by migraine without aura, aged between 7 and 11. The authors of this study did not identify clinically relevant impairment in cognitive performance, with the exception of impaired functioning in short and long-term memory tasks (1). A few years later, Haverkamp et al. (2) reported no significant differences between children with migraine aged 6–12 years and their healthy siblings on a measure of sequential and simultaneous information processing (2). Contrarily, Riva et al. (3) reported significant alterations in the information processing rate only. Patients with migraine showed delayed reaction times to visual stimuli compared to healthy controls; interestingly, reaction times were the only parameters showing a significant correlation with the pattern of headache episodes. The authors hypothesized the existence of reduced rates of information processing speed within the posterior cortical areas involved in detecting visual stimuli and within the premotor areas responsible for programming and implementing motor responses. The findings of this study were however limited by the absence of a matched control group (3)

Identification and characterization of learning weakness from drawing analysis at the pre-literacy stage

Handwriting learning delays should be addressed early to prevent their exacerbation and long-lasting consequences on whole children’s lives. Ideally, proper training should start even before learning how to write. This work presents a novel method to disclose potential handwriting problems, from a pre-literacy stage, based on drawings instead of words production analysis. Two hundred forty-one kindergartners drew on a tablet, and we computed features known to be distinctive of poor handwriting from symbols drawings. We verified that abnormal features patterns reflected abnormal drawings, and found correspondence in experts’ evaluation of the potential risk of developing a learning delay in the graphical sphere. A machine learning model was able to discriminate with 0.75 sensitivity and 0.76 specificity children at risk. Finally, we explained why children were considered at risk by the algorithms to inform teachers on the specific weaknesses that need training. Thanks to this system, early intervention to train specific learning delays will be finally possible

Anatomical Characteristics Of Intrapetrous Carotid Artery : A 3d Segmentation Study On Head Ct-Scan

The intrapetrous portion of internal carotid artery (IPCA) is one of the most unexplored anatomical regions, and its three-dimensional reconstruction in living subjects is still missing. The present study aims at describing IPCA on 3D models extracted from head CT-scans. The intrapetrous carotid artery was manually segmented on head CT-scans of 100 healthy patients free from vascular and neurological pathologies (50 males and 50 females aged between 18 and 91 years). Angles of the posterior and anterior genu, diameter and length of the horizontal portion, and volume of the entire canal were calculated through VAM\uae software. Statistically significant differences according to sex and side were assessed through two-way ANOVA test (p<0.05). Correlation of each measurement with age was calculated as well. On average the angles of the posterior and anterior genu were 120.1\ub110.4\ub0 and 118.0\ub110.0\ub0 in males, 119.5\ub19.2\ub0 and 117.6\ub110.3\ub0 in females, respectively, without statistically significant differences according to sex or side (p>0.05). Average length and diameter of the horizontal part were respectively 25.5\ub12.9 mm and 5.8\ub10.8 mm in males, 24.0\ub12.3 mm and 5.3\ub10.8 mm in females. The volume of IPCA was 0.941\ub10.215 cm3 in males, and 0.752\ub10.159 cm3 in females. Length and diameter of horizontal portion, and volume of IPCA showed statistically significant differences according to sex (p<0.05). No correlation with age was found. This study first provided data concerning not only linear and angular measurements, but also volumes of IPCA, useful in planning surgical interventions of the cranial base

Social stigma and self-perception in adolescents with tourette syndrome

Tourette syndrome (TS) is a complex neurodevelopmental disorder characterized by multiple motor and vocal tics, which commonly presents with multiple behavioral problems, including co-morbid attention-deficit and hyperactivity disorder and obsessive-compulsive disorder. Both tics and co-morbid conditions have been shown to potentially affect patients' health-related quality of life. While TS typically presents in childhood, its manifestations peak in severity during adolescence, a critical period in which affected individuals are exposed to potential stigma from peers. Physical and behavioral manifestations can also contribute to stigma, which subsequently leads to poorer health outcomes, discrimination, and a reduced willingness to seek help. The available evidence suggests that young patients with TS can experience reduced social acceptance from peers and difficulties establishing relationships. There is also evidence that some health care professionals share the unhelpful belief that young patients with TS should be disciplined in order to correct their disruptive behavior, based on the erroneous assumption that tics can be consciously controlled. Studies focussed on self-perception in patients with TS have yielded inconsistent results, with some studies showing problems in the domains of self-concept and self-esteem. Feelings of isolation, loneliness, and experiences of bullying have been reported more consistently. Interventions are required to reduce misconceptions about the condition and thus reduce stigma through targeted education and behavioral interventions. A multi-faceted approach that focuses on educating children, adults, and educators about TS would be beneficial to help alleviate stigma. This can be combined with self-advocacy and tailored psychological therapies for young patients with TS. The present paper reviews the current literature on stigma and self-perception in adolescents with TS in order to inform clinical decisions about management strategies and possible interventions to improve health-related quality of life

Overview of the molecular determinants contributing to the expression of Psoriasis and Psoriatic Arthritis phenotypes

Psoriasis and psoriatic arthritis are multifactorial chronic disorders whose etiopathogenesis essentially derives from the alteration of several signalling pathways and the co-occurrence of genetic, epigenetic and non-genetic susceptibility factors that altogether affect the functional and structural property of the skin. Although shared and differential susceptibility genes and molecular pathways are known to contribute to the onset of pathological phenotypes, further research is needed to dissect the molecular causes of psoriatic disease and its progression towards Psoriatic Arthritis. This review will therefore be addressed to explore differences and similarities in the etiopathogenesis and progression of both disorders, with a particular focus on genes involved in the maintenance of the skin structure and integrity (keratins and collagens), modulation of patterns of recognition (through Toll-like receptors and dectin-1) and immuno-inflammatory response (by NLRP3-dependent inflammasome) to microbial pathogens. In addition, special emphasis will be given to the contribution of epigenetic elements (methylation pattern, non-coding RNAs, chromatin modifiers and 3D genome organization) to the etiopathogenesis and progression of psoriasis and psoriatic arthritis. The evidence discussed in this review highlights how the knowledge of patients' clinical and (epi)genomic make-up could be helpful for improving the available therapeutic strategies for psoriasis and psoriatic arthritis treatment

Self-reported impact of the COVID-19 pandemic and lockdown on young patients with tic disorders: findings from a case\u2013control study

Background: Little is known about the perceived impact of the COVID-19 pandemic and subsequent lockdown measures on young patients with tic disorders. Previous studies focused on clinician and parent ratings of tic severity, whereas the only international self-report data are available for adult populations. We present the first findings from a case\u2013control study on children and adolescents with tics during lockdown in Italy. Methods: We surveyed 49 patients aged 6\u201318 years and 245 matched controls with a newly developed questionnaire covering socio-demographic and clinical data, as well as lockdown-related changes to daily life activities. Results: About half (53.2%) of the Italian school-age patients who took part in our survey experienced changes in tic severity during lockdown. Perceived increases in tic severity (29.8%) were reported more often than decreases (23.4%). Analogous trends were reported for perceived restlessness and, more significantly, irritability, whereas changes in pain symptoms were less common and were similar in both directions. The presence of tics was associated with increased difficulties with remote learning (p = 0.01), but decreased feelings of missing out on social interactions with schoolmates (p = 0.03). Conclusions: Self-reported data on the impact of COVID-19 lockdown in school-age patients with tic disorders indicate perceived changes in tic severity, as well as restlessness and irritability, in about half of the cases. These findings could guide both clinicians and teachers in the implementation of targeted adjustments in the delivery of care and educational strategies, respectively

Corneal confocal microscopy in dry eye treated with corticosteroids

Purpose To evaluate, by in vivo laser scanning confocal microscopy (LSCM), the corneal findings in moderate-to-severe dry eye patients before and after treatment with topical corticosteroid and to associate the confocal findings to the clinical response. Methods Fifty eyes of 50 patients with moderate-to-severe dry eye were included in this open-label, masked study. Exclusion criteria were any systemic or ocular condition (other than dry eye) and any systemic or topical treatment (except artificial tears), ongoing or performed in the previous 3 months, with known effect on the ocular surface. All patients were treated with loteprednol etabonate ophthalmic suspension 0.5% qid for 4 weeks. Baseline and follow-up (day 30 \ub1 2) visits included Ocular Surface Disease Index (OSDI) questionnaire, full eye examination, and central cornea LSCM. We compared data obtained before and after treatment and looked for associations between baseline data and steroid-induced changes. Based on the previously validated OSDI Minimal Clinically Important Difference, we reanalyzed the baseline findings comparing those patients clinically improved after steroids to patients not clinically improved after steroids. Results Ocular Surface Disease Index score and LSCM dendritic cell density (DCD) significantly decreased after treatment. Baseline DCD correlated with both OSDI and DCD steroid-related changes (r = -0.44, p 2, p < 0.01; independent samples t test). Conclusions Laser scanning confocal microscopy examination of DCD allows detection of treatment-related inflammation changes and shows previously unknown associations between confocal finding and symptoms improvement after treatment. These promising preliminary data suggest the need for future studies testing the predictive value of DCD for a clinical response to topical corticosteroids

Reptile enamel matrix proteins: Selection, divergence, and functional constraint

The three major enamel matrix proteins (EMPs): amelogenin (AMEL), ameloblastin (AMBN), and enamelin (ENAM), are intrinsically linked to tooth development in tetrapods. However, reptiles and mammals exhibit significant differences in dental patterning and development, potentially affecting how EMPs evolve in each group. In most reptiles, teeth are replaced continuously throughout life, while mammals have reduced replacement to only one or two generations. Reptiles also form structurally simple, aprismatic enamel while mammalian enamel is composed of highly organized hydroxyapatite prisms. These differences, combined with reported low sequence homology in reptiles, led us to predict that reptiles may experience lower selection pressure on their EMPs as compared with mammals. However, we found that like mammals, reptile EMPs are under moderate purifying selection, with some differences evident between AMEL, AMBN, and ENAM. We also demonstrate that sequence homology in reptile EMPs is closely associated with divergence times, with more recently diverged lineages exhibiting high homology, along with strong phylogenetic signal. Lastly, despite sequence divergence, none of the reptile species in our study exhibited mutations consistent with diseases that cause degeneration of enamel (e.g. amelogenesis imperfecta). Despite short tooth retention time and simplicity in enamel structure, reptile EMPs still exhibit purifying selection required to form durable enamel.We calculated the percent identity between amino acid sequences of ameloblastin from various reptile groups. Crocodilians exhibit the highest sequence identity, while identity across squamates was substantially lower. Upon closer examination of the individual squamate clades, however, we found that identity values are actually much higher in snakes, with much of the variation existing between the various lizard infraorders.HIGHLIGHTSReptile enamel matrix proteins are under moderate purifying selection despite polyphyodonty and simple enamel structure.Sequence identity in reptile enamel matrix proteins exhibit correlation with divergence times in spite of differences in substitution rates.Reptile amelogenin operates under a distinct selection regime compared with ameloblastin and enamelin.Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/150577/1/jezb22857.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/150577/2/jezb22857-sup-0001-Supplementary_file.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/150577/3/jezb22857-sup-0007-Supplementary_file_S8-DAMBE-Saturation.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/150577/4/jezb22857-sup-0002-Supplementary_file_S1-SpeciesTable.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/150577/5/jezb22857-sup-0003-Supplementary_file_S2_Alignments.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/150577/6/jezb22857-sup-0008-Supplementary_File_S9.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/150577/7/jezb22857-sup-0005-Supplementary_file_S6.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/150577/8/jezb22857_am.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/150577/9/jezb22857-sup-0009-Supplementary_file_Reptiles.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/150577/10/jezb22857-sup-0006-Supplementary_file_S7-DIVERGE.pd