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1.
Front Public Health ; 12: 1295273, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38694988

RESUMO

Introduction: The 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. Method: This 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. Results: A 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. Discussion: This 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 registration: PROSPERO (CRD42020210663).


Assuntos
Doenças do Sistema Nervoso , Transtornos do Neurodesenvolvimento , Telerreabilitação , Humanos , Transtornos do Neurodesenvolvimento/reabilitação , Telerreabilitação/métodos , Criança , Doenças do Sistema Nervoso/reabilitação , Pré-Escolar , Adolescente , Lactente
2.
Front Hum Neurosci ; 18: 1370561, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38655371

RESUMO

Unilateral spastic Cerebral Palsy (UCP) results from congenital brain injury, and Magnetic Resonance Imaging (MRI) has a role in understanding the etiology and severity of brain insult. In UCP, functional impairment predominantly occurs in the upper limb (UL) of the more affected side, where manual ability and dexterity are typically reduced. Also, mirror movements (MMs), are often present in UCP, with a further possible negative functional impact. This study aims to investigate the relationships among neuroanatomical characteristics of brain injury at MRI, manual functional impairment and MMs, in children with UCP. Thirty-five children with UCP participated in the study (20, M = 15, F, mean age 9.2 ± 3.5 years). Brain lesions at MRI were categorized according to the Magnetic Resonance Classification System (MRICS) and by using a semi-quantitative MRI (sqMRI) scale. Gross manual performance was assessed through Manual Ability Classification System (MACS) and the Box and Block Test (BBT), and MMs by Woods and Teuber scale, for both hands. Non-parametric correlation analyses were run to determine the relationship between neuroanatomical and functional features. Regression models were run to explore the contribution of neuroanatomical features and MMs to UL function. Correlation analyses revealed moderate to strong associations between sqMRI scores contralateral to the more affected side and UL functional impairment on MACS and BBT, with more severe brain injuries significantly correlating with poorer function in the more affected hand. No association emerged between brain lesion severity scores and MMs. MRICS showed no association with MACS or BBT, while a significant correlation emerged between MRICS category and MMs in the more affected hand, with brain lesion category that are suggestive of presumed earlier injury being associated with more severe MMs. Finally, exploratory regression analyses showed that neuroanatomical characteristics of brain injury and MMs contributed to the variability of UL functional impairment. This study contributes to the understanding of the neuroanatomical and neurological correlates of some aspects of manual functional impairment in UCP by using a simple clinical brain MRI assessment.

3.
Neuropsychol Rev ; 34(1): 98-133, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-36633797

RESUMO

Executive Functions are a set of interrelated, top-down processes essential for adaptive goal-directed behaviour, frequently impaired across different neurodevelopmental disorders with variable degrees of severity. Many executive-function-training studies in children with neurodevelopmental disorders have focused on near effects, investigating post-treatment improvements on directly trained processes, while enhancements of skills not directly trained, defined as far effects, are less considered, albeit these could be extremely relevant for reducing the negative impact of a disorder's core symptomatology. This systematic review and metanalysis aims to investigate the far effect outcomes after EF training in children with different types of neurodevelopmental disorders. 17 studies met the inclusion criteria for the systematic review, while 15 studies were selected in the metanalysis. An overall statistically significant effect size was found in the majority of far effect outcome measures considered in the studies. In particular, trainings on executive functions determine significant far effects on daily life functioning (0.46, 95% CI: [0.05-0.87]) and clinical symptoms (0.33, 95% CI: [0.15-0.51]). Despite a high variability of the results, intensity, frequency and the laboratory/life contexts dimension seem to be the most influential variables in determining far effects. This systematic review and metanalysis highlights the need to measure far effects of executive function training in neurodevelopmental disorders, selecting treatments not only on directly targeted processes, but also according to far impacts on the functional weakness of the disorder.


Assuntos
Função Executiva , Transtornos do Neurodesenvolvimento , Criança , Humanos , Avaliação de Resultados em Cuidados de Saúde
4.
Eur J Phys Rehabil Med ; 59(5): 554-563, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-37462399

RESUMO

BACKGROUND: The effects of unilateral cerebral palsy (UCP) are largely observed in the upper limb (UL), which represents the main focus of rehabilitation for this disorder. Thanks to an increment in home training and progress in technology innovative systems have been created. The Tele-UPCAT (Tele-monitored UPper Limb Children Action Observation Training) platform is dedicated to the delivery at home of a program for UL rehabilitation, based on action observation therapy (AOT). AIM: This study aimed to investigate the immediate effectiveness of Tele-UPCAT for promoting UL skills in children with UCP and to determine if immediate effects were retained in the medium and long term. DESIGN: Tele-UPCAT was conducted on an intention-to-treat basis and was proposed as a randomized, allocation concealed (waitlist controlled) and evaluator-blinded clinical trial with two investigative arms: intensive in-home AOT program and standard care (SC). SETTING: This is a home-based AOT program delivered with a customized ICT platform. POPULATION: Thirty children (mean age 11.61±3.55 years) with confirmed diagnosis of spastic UCP with predominant UL involvement and cognitive level within or at normal limits were enrolled in this study. Orthopedic surgery or an intramuscular botulinum toxin A injection in the UL within 6 months prior to enrolment represented an exclusion criteria. METHODS: Participants were randomized using concealed random allocation. They were assessed according to the study design with the Assisting Hand Assessment (AHA), the Box and Block Test (BBT) and the Melbourne Assessment 2 (MA2). Linear mixed models were used for statistical analysis. RESULTS: A significant difference between the AOT and SC groups was identified immediately after the training on the AHA (6.406 [2.73] P=0.021) with an effect size (ES) of 1.99, and for the BBT of the less affected hand (9.826 [4.535] P=0.032) with an ES of 1.44. These effects were sustained at medium and long term. CONCLUSIONS: This study supports the effectiveness of AOT home training in promoting UL skills in children with UCP, with immediate effects lasting for 6 months. CLINICAL REHABILITATION IMPACT: This should encourage the use of technology for rehabilitative purposes and further applications of the AOT paradigm.


Assuntos
Paralisia Cerebral , Humanos , Criança , Adolescente , Paralisia Cerebral/reabilitação , Extremidade Superior , Mãos , Modalidades de Fisioterapia , Injeções Intramusculares , Resultado do Tratamento
5.
Res Dev Disabil ; 139: 104556, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-37327576

RESUMO

BACKGROUND: Children with Developmental Coordination Disorder (DCD) face difficulties in motor learning. Action observation and imitation are strategies frequently used to teach motor skills. AIMS: (1) To study action observation and imitation abilities in children with DCD compared with typically developing peers with a new protocol. (2) To gain insights in the relation between action observation, imitation, motor performance and activities of daily living (ADL). METHOD: Twenty-one children with DCD (mean age 7 years 9 months, range 6-10 years) and 20 age-matched controls (mean age 7 years 8 months, range 6-10 years) were included. A newly developed protocol was used for testing action observation and imitation proficiency. Motor performance were evaluated with the Movement Assessment Battery for Children-2. ADL were investigated with DCD Questionnaire'07. RESULTS: Children with DCD presented significantly lower action observation (p = .037) and imitation abilities (p < .001) than peers. Worse action observation and imitation abilities were related to lower motor performance and ADL skills and a younger age. Non-meaningful gestures imitation proficiency had predictive value for global motor performance (p = .009), manual dexterity (p = .02) and ADL (p = .004). CONCLUSIONS: The new protocol for action observation and imitation abilities can be helpful for detecting motor learning difficulties and for delineating new opportunities for motor teaching approaches in children with DCD.


Assuntos
Transtornos das Habilidades Motoras , Humanos , Criança , Lactente , Transtornos das Habilidades Motoras/diagnóstico , Atividades Cotidianas , Comportamento Imitativo , Destreza Motora , Movimento
6.
J Neuroeng Rehabil ; 20(1): 62, 2023 05 06.
Artigo em Inglês | MEDLINE | ID: mdl-37149595

RESUMO

BACKGROUND: Nowadays, wearable sensors are widely used to quantify physical and motor activity during daily life, and they also represent innovative solutions for healthcare. In the clinical framework, the assessment of motor behaviour is entrusted to clinical scales, but they are dependent on operator experience. Thanks to their intrinsic objectivity, sensor data are extremely useful to provide support to clinicians. Moreover, wearable sensors are user-friendly and compliant to be used in an ecological environment (i.e., at home). This paper aims to propose an innovative approach useful to predict clinical assessment scores of infants' motor activity. MATERIALS AND METHODS: Starting from data acquired by accelerometers placed on infants' wrists and trunk during playtime, we exploit the method of functional data analysis to implement new models combining quantitative data and clinical scales. In particular, acceleration data, transformed into activity indexes and combined with baseline clinical data, represent the input dataset for functional linear models. CONCLUSIONS: Despite the small number of data samples available, results show correlation between clinical outcome and quantitative predictors, indicating that functional linear models could be able to predict the clinical evaluation. Future works will focus on a more refined and robust application of the proposed method, based on the acquisition of more data for validating the presented models. TRIAL REGISTRATION NUMBER: ClincalTrials.gov; NCT03211533. Registered: July, 7th 2017. ClincalTrials.gov; NCT03234959. Registered: August, 1st 2017.


Assuntos
Lesões Encefálicas , Dispositivos Eletrônicos Vestíveis , Humanos , Lactente , Aceleração , Acelerometria , Encéfalo
7.
Dev Med Child Neurol ; 65(3): 346-357, 2023 03.
Artigo em Inglês | MEDLINE | ID: mdl-37017185

RESUMO

AIM: This study aimed to identify early clinical biomarkers from birth to 16 weeks corrected age to predict typical outcome and developmental delay in infants born very preterm or with very low birthweight. METHOD: A prospective cohort of infants on the Sunshine Coast, Australia, was assessed using the Premie-Neuro Examination, the General Movement Assessment (GMA), the Alberta Infant Motor Scale, and the Infant Sensory Profile 2. At 24 months corrected age, delay was identified using the Bayley Scales of Infant and Toddler Development, Third Edition (Bayley-III) and Neurosensory Motor Developmental Assessment (NSMDA). RESULTS: One hundred and four infants were recruited; 79 completed outcome assessments (43 females, 36 males; mean gestational age 30 weeks [SD 1 week 6 days], mean birthweight 1346 g [SD 323]). The incidence of developmental delay (motor or cognitive) was 6.3%. Suboptimal quality of fidgety general movements (temporal organization) at 16 weeks corrected age demonstrated the best predictive accuracy (Bayley-III motor: sensitivity 100% [95% confidence interval {CI} 3-100], specificity 75% [95% CI 63-84], area under the curve [AUC] 0.87); Bayley-III cognitive: sensitivity 100% [95% CI 3-100], specificity 75% [95% CI 64-84], AUC 0.88); NSMDA motor: sensitivity 100% [95% CI 40-100], specificity 81% [95% CI 70-90], AUC 0.91 [95% CI 0.86-0.95]). GMA trajectories that combined abnormal writhing general movements at 4 to 5 weeks corrected age with suboptimal quality of fidgety movement at 16 weeks corrected age were strongly predictive of developmental delay, superior to all other clinical tools, and perinatal and demographic variables investigated (p = 0.01, Akaike information criterion method 18.79 [score corrected for small sample size], accounting for 93% of the cumulative weight). INTERPRETATION: Only the GMA had sufficient predictive validity to act as a biomarker for both conditions: typical outcome and developmental delay (motor or cognitive). GMA trajectories that assessed both writhing general movements at 4 to 5 weeks corrected age and quality of fidgety movement at 16 weeks corrected age predicted adverse neurodevelopmental outcome, accurately differentiating between infants with typical outcomes and those at increased risk for motor or cognitive delay.


Assuntos
Deficiências do Desenvolvimento , Lactente Extremamente Prematuro , Recém-Nascido , Masculino , Feminino , Gravidez , Criança , Lactente , Humanos , Deficiências do Desenvolvimento/diagnóstico , Desenvolvimento Infantil , Estudos Prospectivos , Recém-Nascido de muito Baixo Peso
8.
Artigo em Inglês | MEDLINE | ID: mdl-36078549

RESUMO

Parental practices and environmental factors can impact a child's development and, consequently, functionality. The objective is to assess the parental practices and environmental differences in healthy and at-risk infants at 3-6 months of age living in upper-middle (Brazil) and high-income (Italy) countries. A total group of 115 infants was identified and classified into four groups: healthy Italian infants (H_IT); Italian infants exposed to biological risk factors (R_IT); healthy Brazilian infants (H_BR); and Brazilian infants exposed to environmental risk factors (L_BR). The dependent variables were parental practices and environmental factors, which were assessed through a semi-structured interview and the "variety of stimulation dimension" from the Affordances in the Home Environment for Motor Development-Infant Scale (AHEMD-IS) questionnaire. Descriptive analyses, a multivariate analysis of variance (MANOVA), and correlation tests were applied. Regarding the environment and parental practices, the mother's age, maternal and paternal education, civil status, and variety of stimulation showed significant differences among the infants living in Brazil or in Italy. There were strong dissimilarities in parental practices and environmental factors among infants living in low/upper-middle and high-income countries. Since the home environment is the main stimulus for infant growth and development, our results are meaningful for providing knowledge about these two different cultures.


Assuntos
Renda , Brasil , Estudos Transversais , Países Desenvolvidos , Escolaridade , Humanos , Lactente
9.
Children (Basel) ; 9(7)2022 Jun 26.
Artigo em Inglês | MEDLINE | ID: mdl-35883941

RESUMO

Background: Developmental Coordination Disorder (DCD) causes difficulties in postural control which are crucial to assess due to their impact on everyday life. There is a lack of suitable tools to acquire quantitative data and deeply analyze postural control, especially during the developmental age. The aim of this study is to investigate postural control skills in children with DCD and typically developing children (TD) using the Virtual Reality Rehabilitation System (VRRS). Methods: 18 children with DCD and 30 TD children (mean age 9.12 ± 2.65 and 7.12 ± 2.77 years, respectively) were tested by using the Movement Assessment Battery for Children Second Edition (MABC-2) and a VRRS stabilometric balance platform. A t-test was performed to identify differences in the VRRS parameters between the two groups. Furthermore, we investigated whether a correlation exists between the VRRS data and the MABC-2. Results: Significant differences (p < 0.05) in mean distance and frequency of the COP are found in the two groups. These parameters also correlate with the MABC-2 total score (p ≤ 0.05) and balance subscales (p ≤ 0.05). Conclusions: This study opens a new frontier for the assessment of postural skills in children with DCD and represents a potential basis for a tailored rehabilitation program, from which their postural stability and, consequently, their everyday life will benefit.

10.
Genes (Basel) ; 13(5)2022 05 12.
Artigo em Inglês | MEDLINE | ID: mdl-35627244

RESUMO

Neurodevelopmental disorders (NDDs) are considered synaptopathies, as they are due to anomalies in neuronal connectivity during development. DLG2 is a gene involved insynaptic function; the phenotypic effect of itsalterations in NDDs has been underestimated since few cases have been thoroughly described.We report on eight patients with 11q14.1 imbalances involving DLG2, underlining its potential effects on clinical presentation and its contribution to NDD comorbidity by accurate neuropsychiatric data collection. DLG2 is a very large gene in 11q14.1, extending over 2.172 Mb, with alternative splicing that gives rise to numerous isoforms differentially expressed in brain tissues. A thorough bioinformatic analysis of the altered transcripts was conducted for each patient. The different expression profiles of the isoforms of this gene and their influence on the excitatory-inhibitory balance in crucial brain structures could contribute to the phenotypic variability related to DLG2 alterations. Further studies on patients would be helpful to enrich clinical and neurodevelopmental findings and elucidate the molecular mechanisms subtended to NDDs.


Assuntos
Cromossomos Humanos Par 11 , Guanilato Quinases , Transtornos do Neurodesenvolvimento , Proteínas Supressoras de Tumor , Processamento Alternativo , Estruturas Cromossômicas , Cromossomos Humanos Par 11/genética , Guanilato Quinases/genética , Humanos , Transtornos do Neurodesenvolvimento/genética , Isoformas de Proteínas/genética , Proteínas Supressoras de Tumor/genética
11.
Transl Psychiatry ; 12(1): 53, 2022 02 08.
Artigo em Inglês | MEDLINE | ID: mdl-35136021

RESUMO

Autistic traits represent a continuum dimension across the population, with autism spectrum disorder (ASD) being the extreme end of the distribution. Accumulating evidence shows that neuroanatomical and neurofunctional profiles described in relatives of ASD individuals reflect an intermediate neurobiological pattern between the clinical population and healthy controls. This suggests that quantitative measures detecting autistic traits in the general population represent potential candidates for the development of biomarkers identifying early pathophysiological processes associated with ASD. Functional near-infrared spectroscopy (fNIRS) has been extensively employed to investigate neural development and function. In contrast, the potential of fNIRS to define reliable biomarkers of brain activity has been barely explored. Features of non-invasiveness, portability, ease of administration, and low-operating costs make fNIRS a suitable instrument to assess brain function for differential diagnosis, follow-up, analysis of treatment outcomes, and personalized medicine in several neurological conditions. Here, we introduce a novel standardized procedure with high entertaining value to measure hemodynamic responses (HDR) in the occipital cortex of adult subjects and children. We found that the variability of evoked HDR correlates with the autistic traits of children, assessed by the Autism-Spectrum Quotient. Interestingly, HDR amplitude was especially linked to social and communication features, representing the core symptoms of ASD. These findings establish a quick and easy strategy for measuring visually-evoked cortical activity with fNIRS that optimize the compliance of young subjects, setting the background for testing the diagnostic value of fNIRS visual measurements in the ASD clinical population.


Assuntos
Transtorno do Espectro Autista , Transtorno Autístico , Córtex Visual , Adulto , Transtorno do Espectro Autista/diagnóstico , Criança , Comunicação , Hemodinâmica , Humanos
12.
Dev Neurorehabil ; 25(6): 400-409, 2022 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-35226571

RESUMO

Goal-oriented locomotion (GOL) is a complex task integrating navigation and gait control. To our knowledge, this is the first study of GOL in subjects with Cerebral Palsy (CP). Thirteen subjects with spastic diplegia and 26 with typical development were enrolled in the study. Subjects performed a GOL task to reach luminous targets. Within-subject trajectory variability, maximal head deviation from trajectory and mean head anticipation over trajectory were analyzed. While all subjects showed gait impairment, only 8 of 13 subjects also showed navigation abnormalities as revealed by either: a) abnormal head orientation and trajectory formation, or b) abnormal head orientation with normal trajectory formation. Abnormal gait patterns do not account for and can be distinguished from navigation disorders in spastic diplegic CP. This distinction has important implications for novel rehabilitation methods that should specifically address navigation, not only gait.


Assuntos
Paralisia Cerebral , Paralisia Cerebral/reabilitação , Criança , Marcha , Objetivos , Humanos , Locomoção , Motivação
13.
Sci Rep ; 12(1): 1352, 2022 01 25.
Artigo em Inglês | MEDLINE | ID: mdl-35079097

RESUMO

The literature on time perception in individuals with ADHD is extensive but inconsistent, probably reflecting the use of different tasks and performances indexes. A sample of 40 children/adolescents (20 with ADHD, 20 neurotypical) was engaged in two identical psychophysical tasks measuring auditory time thresholds in the milliseconds (0.25-1 s) and seconds (0.75-3 s) ranges. Results showed a severe impairment in ADHD for milliseconds thresholds (Log10BF = 1.9). The deficit remained strong even when non-verbal IQ was regressed out and correlation with age suggests a developmental delay. In the seconds range, thresholds were indistinguishable between the two groups (Log10BF = - 0.5) and not correlated with milliseconds thresholds. Our results largely confirm previous evidence suggesting partially separate mechanisms for time perception in the ranges of milliseconds and seconds. Moreover, since the evidence suggests that time perception of milliseconds stimuli might load relatively less on cognitive control and working memory, compared to longer durations, the current results are consistent with a pure timing deficit in individuals with ADHD.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade/fisiopatologia , Limiar Auditivo , Percepção do Tempo , Adolescente , Criança , Feminino , Humanos , Masculino
14.
Appl Neuropsychol Child ; 11(4): 915-920, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-34100324

RESUMO

BACKGROUND: Cerebellar hemorrhage (CBH) represents the main form of direct cerebellar injury in preterm infants. Most CBHs occur bilaterally, while isolated unilateral hemorrhages are less frequent and often associated with focal atrophy. Limited and heterogeneous data exist on preterm birth, unilateral CBH and consequent long-term neurodevelopmental and non-motor outcomes. CASE REPORT: This is the case of a six-year-old child, born preterm, diagnosed with a complete atrophy of the right cerebellar hemisphere through brain MRI and presenting mild social atypies, visuo-perceptive and pragmatic language impairment, but only minor neurological signs. DISCUSSION: Despite the large extension of the patient's CBH neurological sequelae were mild, likely due to cerebellar plasticity, and only specific deficits in non-motor, behavioral and social skills were shown. Evidence exists on cerebellar contribution to dynamic visual information processing and to perceptual signals detection and prediction, that might explain the presence of non-motor signs.


Assuntos
Doenças Cerebelares , Transtornos do Neurodesenvolvimento , Nascimento Prematuro , Atrofia/patologia , Doenças Cerebelares/complicações , Doenças Cerebelares/diagnóstico por imagem , Cerebelo/diagnóstico por imagem , Cerebelo/patologia , Hemorragia Cerebral/complicações , Hemorragia Cerebral/diagnóstico por imagem , Hemorragia Cerebral/patologia , Criança , Feminino , Humanos , Lactente , Recém-Nascido , Recém-Nascido Prematuro , Imageamento por Ressonância Magnética , Transtornos do Neurodesenvolvimento/complicações
15.
Gait Posture ; 92: 364-370, 2022 02.
Artigo em Inglês | MEDLINE | ID: mdl-34923256

RESUMO

BACKGROUND: The assessment of postural control in children is crucial, due to its central role in their overall development. However, a tool that objectively quantifies the difference in postural control between typical and atypical developing children is lacking. In this study, we introduce a new technology (Virtual Reality Rehabilitation System, VRRS) for assessing children's postural control. RESEARCH QUESTION: Is this new assessment tool capable to highlight the differences between typical development (TD) and atypical development, (children with Developmental Coordination Disorder (DCD) and Cerebral Palsy (CP))? METHODS: 30 TD children, 20 children with DCD and 27 with CP (mean ages: 6.29 ± 2.74; 9.11 ± 2.65; 10.07 ± 3.89 years) were tested with the VRRS Tablet with stabilometric balance platform. Postural parameters, related to the movements of the Centre of Pressure (COP) were collected. A multivariate analysis of variance (MANOVA) followed by a post-hoc analysis has been carried out. Moreover, the influence of age, sex, clinical scores and sub-diagnoses on parameters of interest has been explored. RESULTS: COP distance and sway area in the three groups (TD: 7.35 ± 2.32 mm, 101.70 ± 64.16 mm2/s; DCD: 12.05 ± 8.19 mm, 188.46 ± 231.23 mm2/s; CP: 13.25 ± 8.09 mm, 239.13 ± 313.83 mm2/s, respectively) and all other VRRS parameters were significantly different among the three groups (p-values between 0.028 and <0.001). The TD group showed significantly different values than CP (p from < 0.03 to < 0.001) but not than DCD (p = n.s.). Clinical scores showed to correlate with the COP distances and Root Mean Square distances in all subgroups (p < 0.05). For age, only an influence was found within the TD group (p < 0.01); sex did not show to affect the outcomes (p = n.s.). SIGNIFICANCE: An objective tool for quantitative measurement of postural control in childhood is needed. Our proposed VRRS tool could support the traditional assessment tests, highlighting differences between typical and atypical development.


Assuntos
Paralisia Cerebral , Transtornos das Habilidades Motoras , Transtornos do Neurodesenvolvimento , Realidade Virtual , Paralisia Cerebral/diagnóstico , Criança , Pré-Escolar , Humanos , Transtornos das Habilidades Motoras/diagnóstico , Equilíbrio Postural , Posição Ortostática
16.
J Pediatr Genet ; 10(4): 292-299, 2021 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-34849274

RESUMO

The aim of this study was to evaluate the relationship between neurodevelopmental disorders, brain anomalies, and copy number variations (CNVs) and to estimate the diagnostic potential of cytogenomical microarray analysis (CMA) in individuals neuroradiologically characterized with intellectual developmental disorders (IDDs) isolated or associated with autism spectrum disorders (ASDs) and epilepsy (EPI), all of which were identified as a "synaptopathies." We selected patients who received CMA and brain magnetic resonance imaging (MRI) over a 7-year period. We divided them into four subgroups: IDD, IDD + ASD, IDD + EPI, and IDD + ASD + EPI. The diagnostic threshold of CMA was 16%. The lowest detection rate for both CMA and brain anomalies was found in IDD + ASD, while MRI was significantly higher in IDD and IDD + EPI subgroups. CMA detection rate was significantly higher in patients with brain anomalies, so CMA may be even more appropriate in patients with pathological MRI, increasing the diagnostic value of the test. Conversely, positive CMA in IDD patients should require an MRI assessment, which is more often associated with brain anomalies. Posterior fossa anomalies, both isolated and associated with other brain anomalies, showed a significantly higher rate of CMA positive results and of pathogenic CNVs. In the next-generation sequencing era, our study confirms once again the relevant diagnostic output of CMA in patients with IDD, either isolated or associated with other comorbidities. Since more than half of the patients presented brain anomalies in this study, we propose that neuroimaging should be performed in such cases, particularly in the presence of genomic imbalances.

17.
Genes (Basel) ; 12(11)2021 10 21.
Artigo em Inglês | MEDLINE | ID: mdl-34828266

RESUMO

Syndromic neurodevelopmental disorders are usually investigated through genetics technologies, within which array comparative genomic hybridization (Array-CGH) is still considered the first-tier clinical diagnostic test. Among recurrent syndromic imbalances, 17q12 deletions and duplications are characterized by neurodevelopmental disorders associated with visceral developmental disorders, although expressive variability is common. Here we describe a case series of 12 patients with 17q12 chromosomal imbalances, in order to expand the phenotypic characterization of these recurrent syndromes whose diagnosis is often underestimated, especially if only mild traits are present. Gene content and genotype-phenotype correlations have been discussed, with special regard to neuropsychiatric features, whose impact often requires etiologic analysis.


Assuntos
Aberrações Cromossômicas , Duplicação Cromossômica , Cromossomos Humanos Par 17/genética , Transtornos do Neurodesenvolvimento/genética , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/genética , Adolescente , Criança , Pré-Escolar , Estudos de Coortes , Variações do Número de Cópias de DNA , Deficiências do Desenvolvimento/diagnóstico , Deficiências do Desenvolvimento/genética , Feminino , Estudos de Associação Genética , Humanos , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/genética , Itália , Masculino , Transtornos Mentais/diagnóstico , Transtornos Mentais/genética , Transtornos do Neurodesenvolvimento/diagnóstico , Testes Neuropsicológicos , Fenótipo
18.
Front Psychol ; 12: 720677, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34721174

RESUMO

The coming of an unforeseen and hostile event such as the COVID-19 pandemic has brought about various changes in everyone's daily life. During the lockdown period, a huge number of restrictions were imposed, hence interrupting a wide range of activities previously proven to be necessary for some people. Due to the circumstances, rehabilitation treatments for children with neurodevelopmental disorders have been suspended, resulting in consequent distress for the children themselves and their parents. To overcome this problem, a tele-rehabilitation approach has proven to be an excellent solution to give continuity to children's rehabilitation. The tele-rehabilitation approach allows access to rehabilitation services directly from home. During lockdown due to the COVID-19 pandemic, the Virtual Reality Rehabilitation System (VRRS) HomeKit, developed by Khymeia, was employed as a rehabilitation system for the treatment of posture and balance of an adolescent with disabilities for the first time ever. Specifically, a 17-year-old female patient was enrolled and evaluated by the clinical staff before and after the home-training sessions. The system was delivered to the patient's home so that she could perform the tasks in a familiar environment, while under the supervision of the clinical staff. Through a specific platform, using different modules of the system, therapists could remotely check that the proposed exercises were properly performed and provide feedback and/or increase the difficulty according to the patient's needs and progress. Therefore, the treatment performed was carried out at home in a personalized, intensive, and playful way; characteristics do not present in a traditional treatment. Our results are promising and demonstrate both the efficacy of rehabilitation exercises carried out at home and the feasibility of home-based rehabilitation, when using the VRRS HomeKit even with adolescents. The VRRS HomeKit presents some limitations, such as the need to have the line connection and free space at home, the presence of technical issues, and the education of parents and patients to understand the instructions. Despite the limitations, this study provides the basis for continuing the experience of tele-rehabilitation on patients with a motor disorder also by customizing the exercises to their characteristics.

19.
Front Psychiatry ; 12: 708434, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34475832

RESUMO

Navigation is a complex process, requiring target localization, route planning or retrieval, and physical displacement. Executive functions (EFs) such as working memory, inhibition and planning are fundamental for succeeding in this complex activity and are often impaired in Attention Deficit and Hyperactivity Disorder (ADHD). Our aim was to analyze the feasibility of a new ecological navigation task, the Virtual City paradigm™ (VC™) to test visuo-spatial memory and EFs in children with ADHD. Visuo-spatial short and working memory, inhibition and planning skills were tested with standardized tasks. The VC™, a new paradigm developed by our group, used the Virtual CarpetTM technology, consisting of a virtual town with houses, streets and crossroads projected on the ground. It includes a motion capture system, tracking body movement in 3D in real time. In one condition, children were required to walk through the city and reach a sequence of houses. In the other, before walking, they had to plan the shortest path to reach the houses, inhibiting the prepotent response to start walking. The results show a good feasibility of the paradigm (feasibility checklist and ad hoc questionnaire), being ecological and motivating. VC™ measures of span positively correlated with visuo-spatial short and working memory measures, suggesting that VC™ heavily relies on efficient spatial memory. Individual subject analyses suggested that children with ADHD may approach this task differently from typically developing children. Larger samples of ADHD and healthy children may further explore the specific role of EFs and memory, potentially opening new avenues for intervention.

20.
Artigo em Inglês | MEDLINE | ID: mdl-34360193

RESUMO

The lockdown due to the COVID-19 pandemic has had adverse psychological effects on children and parents. While parenting is essential for positive development, increased parental distress has interfered with children's wellbeing. In our study, we aimed to identify the predictors of parental distress in families of children with neuropsychiatric disorders during lockdown. Seventy-seven parents of children with neuropsychiatric disorders were asked to fill three online questionnaires (a socio-demographic questionnaire, the Child Behavior Checklist (CBCL) and Parental-Stress-Index (PSI-4-SF) to explore the relationship between parental distress, emotional/behavioral problems in children and quarantine-related factors through univariate analyses and multiple mediation models. Significant positive associations between CBCL-internalizing-problems and all PSI-4-SF subscales, and between CBCL-externalizing-problems and "Difficult Child" subscales were found. "Parent-Child Dysfunctional Interaction" subscale and teachers-child relationship quality resulted negatively associated, as well as the "Difficult Child" subscale and peers-child relationship quality. The effect of teachers-child relationship quality on "Parent-Child Dysfunctional Interaction" was mediated by children internalizing problems, while the effect of peers-child relationship quality on "Difficult Child" by the child internalizing/externalizing problems. Internalizing problems in children with neuropsychiatric disorders were among the strongest predictors of parental stress during lockdown, mediating the indirect effects of quarantine-related factors, thus suggesting the importance of their detection during and after emergency situations to provide assistance and reduce parenting pressure.


Assuntos
COVID-19 , Criança , Controle de Doenças Transmissíveis , Estudos Transversais , Humanos , Pandemias , Relações Pais-Filho , Poder Familiar , SARS-CoV-2
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