Developmental profile and diagnoses in children presenting with motor stereotypies

Introduction: Motor stereotypies represent a typical example of the difficulty in distinguishing non-clinical behaviors (physiological and transient) from symptoms or among different disorders (“primary stereotypies”, associated with Autistic Spectrum Disorder, Intellectual Disabilities, genetic syndromes, sensory impairment). Aim of this study was to get an accurate analysis on the relationship between stereotypies and neurodevelopmental disorders. Methods: We studied 23 children (3 girls) aged 36 to 95 months, who requested a consultation due to the persistence or the increase severity of motor stereotypies. None of patients had a previous diagnosis of ASD. The assessment included the Motor Severity Stereotypy Scale (MSSS), the Repetitive Behavior Scale-Revised (RBS-R), the Raven’s Colored Progressive Matrices (CPM), the Child Behavior Checklist for ages 1 ½ -5 or 4-18 (CBCL), the Social Responsiveness Scale (SRS) and the Autism Diagnostic Observation Schedule- Second edition (ADOS 2). Results: All patients were showing motor stereotypies for periods of time varying from 6 to 77 months. The MSSS showed each child had a limited number of stereotypies; their frequency and intensity were mild; the interference of stereotypies was variable; the impairment in the daily life was mild. The RBS-R scores resulted positive for the subscale of “Stereotypic behaviors” in all children; moreover, several children presented other repetitive behaviors, mainly “Ritualistic behavior” and “Sameness behavior”. All patients showed a normal cognitive level. The CBCL evidenced behavioral problems in 22% of the children: Internalizing problems, Attention and Withdrawn were the main complaints. On the SRS, all but one of the tested patients obtained clinical scores in the clinical range at least in one area. On the ADOS 2, four patients obtained scores indicating a moderate level of ASD symptoms, four had a mild level and fifteen showed no or minimal signs of ASD. Discussion: Motor stereotypies in children with normal cognitive level represent a challenging diagnostic issue for which a finely tailored assessment is mandatory in order to define a precise developmental profile. Notably, a careful and cautious use of standardized tests is warranted to avoid misdiagnosis. Furthermore, it is hard to consider motor stereotypies, even the primary ones, exclusively as a movement disorder

Developmental motor profile in preschool children with primary stereotypic movement disorder

Aim. Different neuropsychological dysfunctions have been described in children with primary Stereotypic Movement Disorder (SMD), mainly attention or motor coordination problems. Up to now with no study has evaluated psychomotor functions in preschoolers primary SMD. The aim of this observational study was to gather information on the motor profiles of SMD patients in this age range in comparison with typically developing children. Patients and Methods. Twenty-six children (four girls) aged 36 to 76 months (mean= 53 ±10) with primary SMD were assessed by a structured evaluation including the Movement Assessment Battery for Children-Second Edition (MABC-2), the Beery-Buktenica Developmental test of Visual-Motor Integration (VMI), the Repetitive Behaviour Scale-Revised (RBS-R), the Motor Severity Stereotypy Scale (MSSS), and the Child Behaviour Checklist (CBCL). The diagnoses of Intellectual Disability or Autism Spectrum Disorder were exclusion criteria from the study. A comparison group of twenty-seven (four girls) typically developing children without stereotypies aged 36 to 59 months (mean= 48 ±7) was also examined. Results. The MABC-2 total score was lower than 15th percentile in fifteen children with SMD (58%); the worst performances were observed in Balance and Manual Dexterity subtests. The motor coordination score of VMI was lower than 15th percentile in ten children (38%). The majority of the children with low scores at MABC-2 also had low scores at the motor coordination subscale of VMI. MABC-2 standard scores of the clinical group were significantly lower than those of controls on MABC-2 Total, Balance, and Ball Skills subtests. Conclusion. The finding of widespread dysfunction of gross and fine motor abilities in preschoolers with primary SMD seems to delineate a peculiar phenotype and could provide new approaches to the management of this neurodevelopment disorder

Reliability and validity of the geriatric depression scale in Italian subjects with Parkinson's disease

Introduction. The Geriatric Depression Scale (GDS) is commonly used to assess depressive symptoms, but its psychometric properties have never been examined in Italian people with Parkinson's disease (PD). The aim of this study was to study the reliability and validity of the Italian version of the GDS in a sample of PD patients. Methods. The GDS was administered to 74 patients with PD in order to study its internal consistency, test-retest reliability, construct, and discriminant validity. Results. The internal consistency of GDS was excellent (α = 0.903), as well as the test-retest reliability (ICC = 0.941 [95% CI: 0.886-0.970]). GDS showed a strong correlation with instruments related to the depression (ρ = 0.880) in PD (ρ = 0.712) and a weak correlation with generic measurement instruments (-0.320 < ρ <-0.217). An area under the curve of 0.892 (95% CI 0.809-0.975) indicated a moderate capability to discriminate depressed patients to nondepressed patient, with a cutoff value between 15 and 16 points that predicts depression (sensitivity = 87%; specificity = 82%). Conclusion. The GDS is a reliable and valid tool in a sample of Italian PD subjects; this scale can be used in clinical and research contexts

“You see yourself like in a mirror”: the effects of internet-mediated personal networks on body image and eating disorders

Body image issues associated with eating disorders consist of attitudinal and perceptual components: individuals’ dissatisfaction with body shape or weight, and inability to correctly assess body size. While prior research has mainly explored social pressure from media, fashion, and advertising, we aim to uncover how personal networks, also encompassing internet-mediated interactions, bear upon body image. We estimate these effects with data from a survey of users of websites on eating disorders, including indicators of their body size and body image, and maps of their networks of connections. A bivariate ordered probit accounts for the joint distribution of attitudinal and perceptual body image dimensions depending on network characteristics. Results, confirmed by in-depth interviews, provide evidence that personal networks affect body image concerns, and show that this influence varies significantly by body size. Personal networks, as may be formed also (but not only) online, can be conducive to positive body image development

Shaping dynamics with multiple populations in low-rank recurrent networks

An emerging paradigm proposes that neural computations can be understood at the level of dynamical systems that govern low-dimensional trajectories of collective neural activity. How the connectivity structure of a network determines the emergent dynamical system however remains to be clarified. Here we consider a novel class of models, Gaussian-mixture low-rank recurrent networks, in which the rank of the connectivity matrix and the number of statistically-defined populations are independent hyper-parameters. We show that the resulting collective dynamics form a dynamical system, where the rank sets the dimensionality and the population structure shapes the dynamics. In particular, the collective dynamics can be described in terms of a simplified effective circuit of interacting latent variables. While having a single, global population strongly restricts the possible dynamics, we demonstrate that if the number of populations is large enough, a rank-R network can approximate any R-dimensional dynamical system.Comment: 29 pages, 7 figure

Increased responsiveness at the cerebellar input stage in the PRRT2 knockout model of paroxysmal kinesigenic dyskinesia

PRoline-Rich Transmembrane protein-2 (PRRT2) is a recently described neuron-specific type-2 integral membrane protein with a large cytosolic N-terminal domain that distributes in presynaptic and axonal domains where it interacts with several presynaptic proteins and voltage-gated Na+ channels. Several PRRT2 mutations are the main cause of a wide and heterogeneous spectrum of paroxysmal disorders with a loss-of-function pathomechanism. The highest expression levels of PRRT2 in brain occurs in cerebellar granule cells (GCs) and cerebellar dysfunctions participate in the dyskinetic phenotype of PRRT2 knockout (KO) mice. We have investigated the effects of PRRT2 deficiency on the intrinsic excitability of GCs and the input-output relationships at the mossy fiber-GC synapses. We show that PRRT2 KO primary GCs display increased expression of Na+ channels, increased amplitude of Na+ currents and increased length of the axon initial segment, leading to an overall enhancement of intrinsic excitability. In acute PRRT2 KO cerebellar slices, GCs were more prone to action potential discharge in response to mossy fiber activation and exhibited an enhancement of transient and persistent Na+ currents, in the absence of changes at the mossy fiber-GC synapses. The results support a key role of PRRT2 expressed in GCs in the physiological regulation of the excitatory input to the cerebellum and are consistent with a major role of a cerebellar dysfunction in the pathogenesis of the PRRT2-linked paroxysmal pathologies

Restless legs syndrome: differential diagnosis and management with rotigotine

RLS is a common sleep disorder with distinctive clinical features. The prevalence of RLS in Caucasians and North Americans ranges from 5% to 10%. However, only some of these subjects (almost the 3% of the general population) report being affected by a frequent and severe form of the sleep disorder. RLS is diagnosed clinically by means of four internationally recognized criteria that summarize the main characteristics of the sleep disorder. Besides the essential criteria, supportive and associated features of RLS have been established by experts in order to help physicians treat patients with doubtful symptoms. Several clinical conditions may mimic this sleep disorder. In order to increase the sensibility and specificity of RLS diagnosis, doctors should perform a meticulous patient history and then an accurate physical and neurological examination. Dopamine agonists are recognized as the preferred first-line treatment for RLS. Rotigotine is a non-ergoline dopamine agonist with selectivity for D1, D2 and D3 receptors. The drug is administered via transdermal patches which release rotigotine for 24 hours. Four clinical trials demonstrated that this compound is able to improve RLS symptomatology with few and moderate adverse events. Head to head trials are required to compare the efficacy and tolerability of rotigotine with other dopamine agonists administered via oral intake. Rotigotine has been approved by the FDA and EMEA for Parkinson’s disease. For the treatment of moderate to severe idiopathic RLS, rotigotine has been recommended for approval by the EMEA and is under review by the FDA

Professional development of in-training museum educators: an experience of curriculum improvement in time of a pandemic

[EN] The present paper aims to illustrate the reorganization of two post-graduate courses, “Museum Education. Theoretical aspects” and “Advanced Studies in Museum Education” promoted by CDM (Center for Museum Studies) - Dept. of Education at Roma Tre University, carried out during the Covid-19 pandemic, and to analyze the education strategies adopted in terms of museum professionals development to face the Covid-19 museum and universities 2020 Italian lockdown.The results emerging from the quantitative evaluation of the module “Museum and Social Networks”, taking into consideration the activities and digital tools proposed, show the efficacy of the courses reorganization, in terms of transverse and professional skills development in university students, critical thinking and collaboration in particular. Moreover, the data analysis give useful indications in term of university online lectures, laboratory activities and practices in e-learning mode, evaluation tools and methodologies aimed at solliciting professional development of in-training museum educators in university learning context.Poce, A.; Valente, M.; Re, MR.; Amenduni, F.; De Medio, C. (2021). Professional development of in-training museum educators: an experience of curriculum improvement in time of a pandemic. En 7th International Conference on Higher Education Advances (HEAd'21). Editorial Universitat Politècnica de València. 1377-1384. https://doi.org/10.4995/HEAd21.2021.12881OCS1377138

Gastric cancer is the leading cause of death in Italian adult patients with common variable immunodeficiency

An increased prevalence of malignant lymphoma and of gastric cancer has been observed in large cohorts of patients with common variable immunodeficiency (CVID), the most frequently symptomatic primary immunodeficiency. Surveillance strategies for cancers in CVID should be defined based on epidemiological data. Risks and mortality for cancers among 455 Italian patients with CVID were compared to cancer incidence data from the Italian Cancer Registry database. CVID patients showed an increased cancer incidence for all sites combined (Obs = 133, SIR = 2.4; 95%CI = 1.7\u20133.5), due to an excess of non-Hodgkin lymphoma (Obs = 33, SIR = 14.3; 95%CI = 8.4\u201322.6) and of gastric cancer (Obs = 25; SIR = 6.4; 95%CI = 3.2\u201312.5). CVID patients with gastric cancer and lymphoma had a worse survival in comparison to cancer-free CVID (HR: 4.8, 95%CI: 4.2\u201344.4 and HR: 4.2, 95%CI: 2.8\u201344.4). Similar to what observed in other series, CVID-associated lymphomas were more likely to be of B cell origin and often occurred at extra-nodal sites. We collected the largest case-series of gastric cancers in CVID subjects. In contrast to other reports, gastric cancer was the leading cause of death in CVID. Standardized mortality ratio indicated a 10.1-fold excess mortality among CVID patients with gastric cancer. CVID developed gastric cancer 15 years earlier than the normative population, but they had a similar overall survival. Only CVID diagnosed at early stage gastric cancer survived >24 months. Stomach histology from upper endoscopy performed before cancer onset showed areas of atrophic gastritis, intestinal metaplasia or dysplasia. CVID patients might progress rapidly to an advanced cancer stage as shown by patients developing a III-IV stage gastric cancer within 1 year from an endoscopy without signs of dysplasia. Based on high rate of mortality due to gastric cancer in Italian CVID patients, we hereby suggest a strategy aimed at early diagnosis, based on regular upper endoscopy and on Helicobacter pylori infection treatment, recommending an implementation of national guidelines