Study of Cardiac Features in Adults with Down Syndrome

Down Syndrome (DS) has a significant impact on the development of many tissues, most notably in the heart and in the brain. According to the clinical need to better investigate these aspects, the main aim of this study was to make an overview on the cardiac features in adult individuals with DS. The following data of 37 individuals with DS (range: 18-60 years) were collected and analysed: age, gender, height, weight, waist to height ratio (WHER), smoking history and cardiac parameters (heart rate and blood pressure), blood glucose level or glycaemia, cholesterol (total, high-density lipoprotein – HDL - and low-density lipoprotein - LDL - cholesterol) and triglycerides. In addition, their gait pattern were quantified with 3D Gait Analysis. BMI, WHER and cholesterol HDL results were above the upper limits of the recommended range in people with DS; on the contrary, blood pressure, heart rate, glycaemia, cholesterol-LDL and triglycerides were within the recommended range. Comparing males and females in the DS group, the females showed statistically different values for cholesterol-total, and triglycerides values, with lower values in comparison to males. In motor performance, people with DS presented abnormal gait patterns. Some significant correlations were found: age with LDL, WHER with weight and BMI, systolic with diastolic blood pressure, total cholesterol with LDL and triglycerides. Our results showed that adults with DS suffer from a high prevalence of physical disorders, including overweight and obesity, and abnormal cholesterol values, together with abnormal gait pattern

The wide world of technological telerehabilitation for pediatric neurologic and neurodevelopmental disorders – a systematic review

IntroductionThe use of Information and Communication Technology (ICT) for assessing and treating cognitive and motor disorders is promoting home-based telerehabilitation. This approach involves ongoing monitoring within a motivating context to help patients generalize their skills. It can also reduce healthcare costs and geographic barriers by minimizing hospitalization. This systematic review focuses on investigating key aspects of telerehabilitation protocols for children with neurodevelopmental or neurological disorders, including technology used, outcomes, caregiver involvement, and dosage, to guide clinical practice and future research.MethodThis systematic review adhered to PRISMA guidelines and was registered in PROSPERO. The PICO framework was followed to define the search strategy for technology-based telerehabilitation interventions targeting the pediatric population (aged 0–18) with neurological or neurodevelopmental disorders. The search encompassed Medline/PubMed, EMBASE, and Web of Science databases. Independent reviewers were responsible for selecting relevant papers and extracting data, while data harmonization and analysis were conducted centrally.ResultsA heterogeneous and evolving situation emerged from our data. Our findings reported that most of the technologies adopted for telerehabilitation are commercial devices; however, research prototypes and clinical software were also employed with a high potential for personalization and treatment efficacy. The efficacy of these protocols on health or health-related domains was also explored by categorizing the outcome measures according to the International Classification of Functioning, Disability, and Health (ICF). Most studies targeted motor and neuropsychological functions, while only a minority of papers explored language or multi-domain protocols. Finally, although caregivers were rarely the direct target of intervention, their role was diffusely highlighted as a critical element of the home-based rehabilitation setting.DiscussionThis systematic review offers insights into the integration of technological devices into telerehabilitation programs for pediatric neurologic and neurodevelopmental disorders. It highlights factors contributing to the effectiveness of these interventions and suggests the need for further development, particularly in creating dynamic and multi-domain rehabilitation protocols. Additionally, it emphasizes the importance of promoting home-based and family-centered care, which could involve caregivers more actively in the treatment, potentially leading to improved clinical outcomes for children with neurological or neurodevelopmental conditions.Systematic review registrationPROSPERO (CRD42020210663)

Nullità del contratto a termine : fattispecie ed effetti

Il presente lavoro di ricerca ha ad oggetto l'analisi delle conseguenze derivanti dalla declaratoria della nullità della clausola temporale apposta al contratto di lavoro subordinato a tempo determinato. La fattispecie contrattuale in parola, oggi, nell'ordinamento italiano, disciplinata dal D.Lgs. n. 368/2001, attuativo della Direttiva Comunitaria 1999/70/CE (relativa all'accordo quadro sul lavoro a tempo determinato concluso dall'UNICE, dal CEEP e dal CES, che stabilisce ai primi due commi: "1. E' consentita l'apposizione di un termine alla durata del rapporto di lavoro subordinato a fronte di ragioni di carattere tecnico, produttivo, organizzativo o sostitutivo. 2. L'apposizione del termine è priva di effetto se non risulta, direttamente o indirettamente, da atto scritto nel quale sono specificate le ragioni di cui al comma 1"), ha risentito, tanto prima dell'entrata in vigore del predetto decreto, quanto successivamente, della evoluzione del contesto economico-sociale e dello stato delle relazioni sindacali ed industriali che hanno interessato il nostro Paese, con inevitabili adattamenti operati dal Legislatore, nel corso degli anni, rivelatisi, talvolta, privi di pregio giuridico e fattuale ovvero insufficienti a soddisfare la intentio originale. Per tale ragione, si è proceduto ad effettuare una attenta ricostruzione e sistemazione della normativa in esame, attraverso un excursus storico-giuridico della disciplina del contratto a termine (dal Codice Civile del 1985 alla Riforma Fornero) procedendo, poi, alla trattazione dell'effetto sanzionatorio della illegittimità della causale giustificativa dell'apposizione del termine, con l'analisi dei diversi orientamenti dottrinali e giurisprudenziali formatisi e relativi all'applicazione della normativa di cui all'art. 1419 c.c., nella versione del primo ovvero del secondo comma. Si conclude, infine, il presente lavoro di ricerca ed approfondimento sulla disciplina del contratto a termine, con l’analisi dell’esperienza della società Poste Italiane Spa che ha offerto l’occasione di numerosi interventi legislativi e per il consolidamento di importanti principi giuridici

Mechanical Work And Power Analysis In The Joints Of The Lower Extremity Of Adults With Down Syndrome During Plane Walking

Individuals with Down syndrome (DS) use a different motor gait strategy than healthy people. This study aims at analyzing plane walking differences between two groups of normally developed (ND) subjects and subjects with DS in terms of the generated mechanical power and work in the joints of the lower limb. Thirty-nine adults including two groups of 21 subjects with DS (age: 21.6 ± 7 years (mean ± SD)) and 18 ND subjects (age: 25.1 ± 2.4 years) participated in this study. Gait data and ground reaction forces were acquired using a quantitative movement analysis system composed of an optoelectronic motion analyzer (Elite2002, BTS) with eight infrared cameras, and two force platforms mounted in the middle of walkway. Mechanical power and work exchanges were computed during the stance phase by dedicated software, and then compared between the two groups (significance level: p-value = 0.05). Results showed that the mechanical power at the ankle joint was significantly larger in ND subjects compared to subjects with DS (0.084 ± 0.015 vs 0.027 ± 0.010 W/kg). The mechanical work of the ankle joint and the knee joint was significantly lower in ND compared to DS (0.015 ± 0.013 vs 0.028 ± 0.008 kJ/kg.m, and 0.066 ± 0.031 vs 0.109 ± 0.023 kJ/kg.m, respectively). For both groups, the mechanical work done by knee was less than that performed at the ankle and hip level, which might indicate that the knee muscles mainly absorb the energy, rather than generate it. Our results suggest that the subjects with DS walk with a different motor strategy than normal subjects in terms of mechanical power and work in the joints of the lower extremity. Further investigations are warranted to study the relation between these parameters and gait strategy in subjects with DS, which can lead to better rehabilitative strategies

Energy analysis of gait in patients with down syndrome

BACKGROUND: the primary aim of this study is to analyse the energy parameters of patients with Down syndrome compared to a control group and secondly to verify whether the sport activity leads to differences in energy expenditure. METHODS: 3 groups of subjects were identified: 8 healthy subjects and 147 subjects with Down syndrome, of whom 14 played sports at least once a week. An energy index was calculated, given by the ratio between potential and kinetic energy. Next, kinetic ad potential energy parameters were extrapolated at 60% of the gait cycle (propulsion phase). FINDINGS: Down syndrome group was compared with the control group and emerged that the energy index was higher in the first one. No changes were found between Down syndrome and Down syndrome Sport groups. The analysis of the energy parameters showed that all parameters, except the medio-lateral kinetic energy, were higher in the control than in the Down syndrome groups. The potential energy, medio-lateral kinetic energy, and vertical were higher in the Down syndrome Sport group than in the Down syndrome group. The kinetic energy and the mean velocity were higher in the control group than in Down syndrome Sport group while the medio-lateral kinetic energy was lower. INTERPRETATION: sport modified the parameter of potential energy but not that of kinetic energy, which continued to be different compared to the healthy group and increased the oscillations in the medio-lateral plane, which were double compared to Down syndrome group. The increase in potential energy, found to be almost equal to that of control group, indicates an increase in vertical oscillations. This could be because subjects who practise sports have stronger muscles that allow a greater push-off ability, which therefore increases their potential energy

Sex differences in the gait kinematics of patients with Down syndrome: A preliminary report

OBJECTIVE: Sex-specific medicine requires understanding of the specific therapeutic needs and patho-physiology of men and women. In these terms, we investigated sex-related differences in the gait kinematics of patients with Down syndrome. DESIGN: Retrospective observational cohort study. SUBJECTS: A sample of 230 patients (103 females) aged 7-50 years underwent a standard gait-analysis test from 2000 to 2015. METHODS: Spatiotemporal gait parameters and synthetic indexes were computed as Gait Profile Score (GPS) and pelvis/lower limbs as Gait Variable Scores. RESULTS: Although speed, normalized step width, %stance and %swing were similar, in female patients step length was shorter and GPS was higher than in male patients, with no significant effect of age, speed and body mass index. Sex-specific features were found at the pelvis, hip and knee level (sagittal plane), and at the ankle level (transverse plane). CONCLUSION: Overall, in people with Down syndrome, the gait function of females tends to be more impaired than in males, with the exception of foot progression. Therapists should consider these differences when evaluating the severity of gait impairment and designing rehabilitation strategies

Mechanical Work and Power Analysis in the Joints of the Lower Extremity of Adults With Down Syndrome During Plane Walking

Individuals with Down syndrome (DS) use a different motor gait strategy than healthy people. This study aims at analyzing plane walking differences between two groups of normally developed (ND) subjects and subjects with DS in terms of the generated mechanical power and work in the joints of the lower limb. Thirty-nine adults including two groups of 21 subjects with DS (age: 21.6 ± 7 years (mean ± SD)) and 18 ND subjects (age: 25.1 ± 2.4 years) participated in this study. Gait data and ground reaction forces were acquired using a quantitative movement analysis system composed of an optoelectronic motion analyzer (Elite2002, BTS) with eight infrared cameras, and two force platforms mounted in the middle of walkway. Mechanical power and work exchanges were computed during the stance phase by dedicated software, and then compared between the two groups (significance level: p-value = 0.05). Results showed that the mechanical power at the ankle joint was significantly larger in ND subjects compared to subjects with DS (0.084 ± 0.015 vs 0.027 ± 0.010 W/kg). The mechanical work of the ankle joint and the knee joint was significantly lower in ND compared to DS (0.015 ± 0.013 vs 0.028 ± 0.008 kJ/kg.m, and 0.066 ± 0.031 vs 0.109 ± 0.023 kJ/kg.m, respectively). For both groups, the mechanical work done by knee was less than that performed at the ankle and hip level, which might indicate that the knee muscles mainly absorb the energy, rather than generate it. Our results suggest that the subjects with DS walk with a different motor strategy than normal subjects in terms of mechanical power and work in the joints of the lower extremity. Further investigations are warranted to study the relation between these parameters and gait strategy in subjects with DS, which can lead to better rehabilitative strategies

A biomechanical study of gait initiation in Down syndrome

Gait Initiation (GI) is a functional task that challenges the balance control requiring weight shift and a transition from standing to walking. Individuals with Down Syndrome (DS) walk with low velocity, prolonged stance and shorter steps beside an increased support base. However, no studies performed GI analysis on this population. The aim of this study is to quantitatively characterize the GI task in subjects with DS compared with a typically developed control group