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1.
Neurology ; 2020 Jan 22.
Artigo em Inglês | MEDLINE | ID: mdl-31969461

RESUMO

OBJECTIVE: To estimate the prevalence of Joubert syndrome (JS) in Italy applying standards of descriptive epidemiology and to provide a molecular characterization of the described patient cohort. METHODS: We enrolled all patients with a neuroradiologically confirmed diagnosis of JS who resided in Italy in 2018 and calculated age and sex prevalence, assuming a Poisson distribution. We also investigated the correlation between proband chronological age and age at diagnosis and performed next-generation sequencing (NGS) analysis on probands' DNA when available. RESULTS: We identified 284 patients with JS: the overall, female- and male-specific population-based prevalence rates were 0.47 (95% confidence interval [CI] 0.41-0.53), 0.41 (95% CI 0.32-0.49), and 0.53 (95% CI 0.45-0.61) per 100,000 population, respectively. When we considered only patients in the age range from 0 to 19 years, the corresponding population-based prevalence rates rose to 1.7 (95% CI 1.49-1.97), 1.62 (95% CI 1.31-1.99), and 1.80 (95% CI 1.49-2.18) per 100,000 population. NGS analysis allowed identifying the genetic cause in 131 of 219 screened probands. Age at diagnosis was available for 223 probands, with a mean of 6.67 ± 8.10 years, and showed a statistically significant linear relationship with chronological age (r 2 = 0.79; p < 0.001). CONCLUSIONS: We estimated for the first time the age and sex prevalence of JS in Italy and investigated the patients' genetic profile. The obtained population-based prevalence rate was ≈10 times higher than that available in literature for children population.

2.
Trials ; 21(1): 82, 2020 Jan 14.
Artigo em Inglês | MEDLINE | ID: mdl-31937355

RESUMO

BACKGROUND: Patients with cerebellar malformations exhibit not only movement problems, but also important deficits in social cognition. Thus, rehabilitation approaches should not only involve the recovery of motor function but also of higher-order abilities such as processing of social stimuli. In keeping with the general role of the cerebellum in anticipating and predicting events, we used a VR-based rehabilitation system to implement a social cognition intensive training specifically tailored to improve predictive abilities in social scenarios (VR-Spirit). METHODS/DESIGN: The study is an interventional randomised controlled trial that aims to recruit 42 children, adolescents and young adults with congenital cerebellar malformations, randomly allocated to the experimental group or the active control group. The experimental group is administered the VR-Spirit, requiring the participants to compete with different avatars in the reaching of recreational equipment and implicitly prompting them to form expectations about their playing preference. The active control group participates in a VR-training with standard games currently adopted for motor rehabilitation. Both trainings are composed by eight 45-min sessions and are administered in the GRAIL VR laboratory (Motekforce Link, Netherlands), an integrated platform that allows patients to move in natural and attractive VR environments. An evaluation session in VR with the same paradigm used in the VR-Spirit but implemented in a different scenario is administered at the beginning (T0) of the two trainings (T1) and at the end (T2). Moreover, a battery of neurocognitive tests spanning different domains is administered to all participants at T0, T2 and in a follow-up session after 2 months from the end of the two trainings (T3). DISCUSSION: This study offers a novel approach for rehabilitation based on specific neural mechanisms of the cerebellum. We aim to investigate the feasibility and efficacy of a new, intensive, social cognition training in a sample of Italian patients aged 7-25 years with congenital cerebellar malformations. We expect that VR-Spirit could enhance social prediction ability and indirectly improve cognitive performance in diverse domains. Moreover, through the comparison with a VR-active control training we aim to verify the specificity of VR-Spirit in improving social perception skills. TRIAL REGISTRATION: ISRCTN, ID: ISRCTN 22332873. Retrospectively registered on 12 March 2018.

3.
Acta Paediatr ; 2019 Oct 31.
Artigo em Inglês | MEDLINE | ID: mdl-31670854

RESUMO

AIM: The main goal of this study was to assess the association between pain-related increase in serotonin transporter gene (SLC6A4) methylation and emotional dysregulation in 4.5-year-old preterm children compared with full-term matched counterparts. METHODS: Preterm (n = 29) and full-term (n = 26) children recruited from two Italian hospitals were followed-up from October 2011 to December 2017. SLC6A4 methylation was assessed from cord blood at birth from both groups and peripheral blood at discharge for preterm ones. At 4.5 years, emotional regulation (ie, anger, fear and sadness) was assessed through an observational standardised procedure. RESULTS: Preterm children (18 females; mean age = 4.5, range = 4.3-4.8) showed greater anger display compared with full-term controls (14 females; mean age = 4.5, range = 4.4-4.9) in response to emotional stress. Controlling for adverse life events occurrence from discharge to 4.5 years and SLC6A4 methylation at birth, CpG-specific SLC6A4 methylation in the neonatal period was predictive of greater anger display in preterm children but not in full-term ones. CONCLUSION: These findings contribute to highlight how epigenetic regulation of serotonin transporter gene in response to NICU pain exposure contributes to long-lasting programming of anger regulation in preterm children.

4.
Genes Brain Behav ; : e12616, 2019 Oct 17.
Artigo em Inglês | MEDLINE | ID: mdl-31622002

RESUMO

The integration of behavioral epigenetics' principles (eg, DNA methylation) into the study of human infants' development has mainly focused on the effects of early adverse exposures, paying less attention to protective caregiving experiences. The present review focused on DNA methylation linked to variations in maternal behavior in human infants and children. Literature search occurred on three databases (PubMed, Scopus and Web of Science) and 11 records were selected. Key variables were abstracted from each article including: sample size and characteristics, time and type of maternal caregiving behavior exposure, time and locus of methylation biomarker, presence/absence, time and type of adverse exposure. Six out of eleven records documented the predictive effect of maternal caregiving on DNA methylation, whereas the remaining five reported on the role of maternal behavior as an influencing factor of the adversity-to-methylation link. Consistent with evidence from the animal model, the quality of maternal caregiving in humans (a) might be associated with variations in DNA methylation status of specific genes involved in socio-emotional development and (b) might partially buffer the association between early adversities and epigenetic variations in infants and children. Current evidence suggests that the quality of maternal caregiving can contribute to behavioral development trajectories of human infants and children at least partially through epigenetic regulation. Open questions and methodological aspects are discussed to guide future human developmental research in behavioral epigenetics.

5.
Neural Plast ; 2019: 1678984, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31531012

RESUMO

Early brain damage leading to cerebral palsy is associated to core motor impairments and also affects cognitive and social abilities. In particular, previous studies have documented specific alterations of perceptual body processing and motor cognition that are associated to unilateral motor deficits in hemiplegic patients. However, little is known about spastic diplegia (SpD), which is characterized by motorial deficits involving both sides of the body and is often associated to visuospatial, attentional, and social perception impairments. Here, we compared the performance of a sample of 30 children and adolescents with SpD (aged 7-18 years) and of a group of age-matched controls with typical development (TD) at two different tasks tapping on body representations. In the first task, we tested visual and motor imagery abilities as assessed, respectively, by the object-based mental rotation of letters and by the first-person transformations for whole-body stimuli. In the second task, we administered an inversion effect/composite illusion task to evaluate the use of configural/holistic processing of others' body. Additionally, we assessed social perception abilities in the SpD sample using the NEPSY-II battery. In line with previously reported visuospatial deficits, a general mental imagery impairment was found in SpD patients when they were engaged in both object-centered and first-person mental transformations. Nevertheless, a specific deficit in operating an own-body transformation emerged. As concerns body perception, while more basic configural processing (i.e., inversion effect) was spared, no evidence for holistic (i.e., composite illusion) body processing was found in the SpD group. NEPSY-II assessment revealed that SpD children were impaired in both the theory of mind and affect recognition subtests. Overall, these findings suggested that early brain lesions and biased embodied experience could affect higher-level motor cognition and perceptual body processing, thus pointing to a strict link between motor deficits, body schema alterations, and person processing difficulties.

6.
Behav Neurol ; 2019: 1346987, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31467613

RESUMO

Introduction: Multidisciplinary rehabilitation interventions are considered to be a need for children with acquired brain injury (ABI), in order to remediate the important sequelae and promote adjustment. Technology-based treatments represent a promising field inside the rehabilitation area, as they allow delivering interventions in ecological settings and creating amusing exercises that may favor engagement. In this work, we present an overview of remote technology-based training programs (TP) addressing cognitive and behavioral issues delivered to children with ABI and complement it with the results of a meta-analytic exploration. Evidence Acquisition: We performed the review process between January and February 2019. 32 studies were included in the review, of which 14 were further selected to be included in the meta-analysis on TP efficacy. Evidence Synthesis: Based on the review process, the majority of TP addressing cognitive issues and all TP focusing on behavioral issues were found to be effective. Two meta-analytic models examining the means of either cognitive TP outcomes or behavioral TP outcomes as input outcome yielded a nonsignificant effect size for cognitive TP and a low-moderate effect size for behavioral TP. Additional models on outcomes reflecting the greatest beneficial effects of TP yielded significant moderate effect sizes for both types of TP. Nevertheless, consistent methodological heterogeneity was observed, pointing to cautious interpretation of findings. A subgroup analysis on visuospatial skill outcomes showed a smaller yet significant effect size of cognitive TP, with low heterogeneity, providing a more reliable estimation of overall cognitive TP effects. Conclusions: Promising results on remote cognitive and behavioral TP efficacy emerged both at the review process and at the meta-analytic investigation. Nevertheless, the high heterogeneity that emerged across studies prevents us from drawing definite conclusions. Further research is needed to identify whether specific training characteristics and population subgroups are more likely to be associated with greater training efficacy.

7.
Cells ; 8(7)2019 07 02.
Artigo em Inglês | MEDLINE | ID: mdl-31269740

RESUMO

Mutations in tubulin genes are responsible for a large spectrum of brain malformations secondary to abnormal neuronal migration, organization, differentiation and axon guidance and maintenance. Motor impairment, intellectual disability and epilepsy are the main clinical symptoms. In the present study 15 patients from a personal cohort and 75 from 21 published studies carrying mutations in TUBA1A, TUBB2B and TUBB3 tubulin genes were evaluated with the aim to define a clinical and electrophysiological associated pattern. Epilepsy shows a wide range of severity without a specific pattern. Mutations in TUBA1A (60%) and TUBB2B (74%) and TUBB3 (25%) genes are associated with epilepsy. The accurate analysis of the Electroencephalogram (EEG) pattern in wakefulness and sleep in our series allows us to detect significant abnormalities of the background activity in 100% of patients. The involvement of white matter and of the inter-hemispheric connection structures typically observed in tubulinopathies is evidenced by the high percentage of asynchronisms in the organization of sleep activity recorded. In addition to asymmetries of the background activity, excess of slowing, low amplitude and Magnetic Resonance (MR) imaging confirm the presence of extensive brain malformations involving subcortical and midline structures. In conclusion, epilepsy in tubulinopathies when present has a favorable evolution over time suggesting a not particularly aggressive therapeutic approach.

8.
Sci Rep ; 9(1): 8975, 2019 Jun 20.
Artigo em Inglês | MEDLINE | ID: mdl-31222153

RESUMO

Electroencephalographic mu rhythm desynchronization is thought to reflect Mirror Neuron System (MNS) activity and represents an important neural correlate of the coupling between action execution and perception. It is still unclear if the MNS in human ontogeny is already available at the beginning of postnatal life and how early experience impacts its development. Premature birth provides a "natural condition" for investigating the effects of early, atypical extra-uterine experience on MNS. The main aim of the present study was to investigate whether the MNS activity is associated with prematurity. We compared the mu rhythm activity in preterm (PT) and full-term (FT) 14-month old infants during an action observation/execution (AO/AE) task. Mu rhythm desynchronization was computed over frontal, central, parietal and occipital regions. Both groups showed mu rhythm suppression in all the scalp regions during action execution. Different desynchronization patterns emerged during action observation. Specifically, FT infants showed mu suppression in the right frontal, bilateral parietal and occipital regions; whereas PT infants exhibited mu suppression only in the right parietal region. Overall, these preliminary findings indicate that an atypical extra uterine experience might have an impact on the MNS activity.

9.
Dev Med Child Neurol ; 61(7): 813-819, 2019 07.
Artigo em Inglês | MEDLINE | ID: mdl-30720211

RESUMO

AIM: To assess the predictive validity of the Functional Evaluation of Eating Difficulties Scale (FEEDS) on long-term eating developmental outcomes in infants with neurodevelopmental disorders. METHOD: In total, 144 infants (69 females, 75 males) aged 0 to 12 months (mean [SD] 5.34mo [3.42]) with neurodevelopmental disorders and requiring enteral nutrition support, hospitalized between January 2004 and December 2017, were included. The FEEDS was administered at the onset of hospitalization. Follow-up evaluations of feeding modalities occurred at discharge and at 6 months, 12 months, and 24 months after discharge. FEEDS score was tested as a predictor of infants' feeding modality (percutaneous endoscopic gastrostomy, nasogastric tube, mixed, oral feeding) and time to autonomous oral feeding. Percentages of false-positive and negative cases were checked. RESULTS: Lower FEEDS scores significantly predicted infants' feeding modality (0.40≤R2 ≤0.61). A 1-point increase in FEEDS score was associated with increased risk (6%-14%; p<0.05) of being non-autonomous feeders at the different follow-up points in infants who had a FEEDS score above the clinical cut-off. INTERPRETATION: The FEEDS appears to be a clinically valid assessment to predict the presence of eating difficulties in infants with neurodevelopmental disabilities. WHAT THIS PAPER ADDS: Functional Evaluation of Eating Difficulties Scale (FEEDS) significantly predicted eating difficulties in infants with neurodevelopmental disabilities. Lower FEEDS score is significantly associated with autonomous feeding at the 24-month follow-up. FEEDS cut-off identified infants at low-risk and high-risk for eating disorder.


Assuntos
Transtornos da Alimentação e da Ingestão de Alimentos/diagnóstico , Destreza Motora , Transtornos do Neurodesenvolvimento/diagnóstico , Pré-Escolar , Erros de Diagnóstico , Avaliação da Deficiência , Nutrição Enteral , Transtornos da Alimentação e da Ingestão de Alimentos/complicações , Transtornos da Alimentação e da Ingestão de Alimentos/epidemiologia , Transtornos da Alimentação e da Ingestão de Alimentos/terapia , Feminino , Seguimentos , Hospitalização , Humanos , Lactente , Recém-Nascido , Estudos Longitudinais , Masculino , Boca , Transtornos do Neurodesenvolvimento/complicações , Transtornos do Neurodesenvolvimento/epidemiologia , Transtornos do Neurodesenvolvimento/terapia , Prognóstico , Fatores de Risco
10.
Front Psychol ; 10: 135, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30787895

RESUMO

In the last years, there has been a growing interest in the application of different non-invasive brain stimulation techniques to induce neuroplasticity and to modulate cognition and behavior in adults. Very recently, different attempts have been made to induce functional plastic changes also in pediatric populations. Importantly, not only sensorimotor processing, but also higher-level functions have been addressed, with the aim to boost rehabilitation in different neurodevelopmental disorders. However, efficacy and safety of using these techniques in pediatric population is still debated. The current article aims to review the non-invasive brain stimulation studies conducted in pediatric populations using Transcranial Magnetic Stimulation or transcranial Direct Current Stimulation. Specifically, the available proofs concerning the efficacy and safety of these techniques on Autism Spectrum Disorder, Attention-deficit/hyperactivity disorder, Dyslexia, Tourette syndrome, and tic disorders are systematically reviewed and discussed. The article also aims to provide an overview about other possible applications of these and other stimulation techniques for rehabilitative purposes in children and adolescents.

11.
Genet Med ; 21(7): 1667-1671, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-30783266

RESUMO

The article has been corrected to account for one patient being investigated through genome sequencing rather than exome sequencing as originally published; thus amendments to the Abstract and Methods have been made as well as addition of the relevant authors and acknowledgment.

12.
Psychoneuroendocrinology ; 100: 172-179, 2019 02.
Artigo em Inglês | MEDLINE | ID: mdl-30343183

RESUMO

The co-regulation of the hypothalamic-pituitary-adrenal (HPA) axis in mother-infant dyads is thought to be key for infant and child development. Nonetheless, previous literature presents some inconsistencies that might at least partially be due to the presence of risk conditions and the use of different statistical approaches to measure HPA axis co-regulation. Very preterm (VPT) birth represents one of these risk conditions as the early foundation of mother-infant interaction is disrupted. Both VPT infants and their mothers present evidence of altered HPA axis regulation. Nonetheless, the comparison of mother-infant HPA axis co-regulation in VPT infants compared to full-term (FT) ones has not been previously investigated. In this study, 3-month-old (corrected age) VPT infants and FT counterparts with their mothers took part in a well-validated stress-inducing laboratory task (i.e., double Face-to-Face Still-Face, FFSF paradigm). Salivary cortisol samples were obtained before (Baseline) and after (Early reactivity, Late reactivity and Recovery) the FFSF procedure. Dyadic HPA axis co-regulation was assessed at each sample time-point (i.e., in-moment coupling) as well as across samples (i.e., in-time synchrony). Significant in-moment coupling emerged at Baseline, Late reactivity and Recovery for FT infants' dyads only. An overlying pattern of salivary cortisol trajectories emerged between mothers and infants in the VPT group, whereas a more complex pattern of reciprocal and complementary co-regulation was found for FT infants' dyads. Although both groups gave evidence of HPA axis co-regulation, dyads of VPT infants appear to be less able to adapt reciprocally and dynamically to stressful conditions. These findings suggest that multiple approaches to account for dyadic HPA axis co-regulation should be used in order to depict the complex pattern of biological rhythms coordination in mother-infant dyads.

13.
Genet Med ; 21(6): 1308-1318, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-30356099

RESUMO

PURPOSE: Germline WWOX pathogenic variants have been associated with disorder of sex differentiation (DSD), spinocerebellar ataxia (SCA), and WWOX-related epileptic encephalopathy (WOREE syndrome). We review clinical and molecular data on WWOX-related disorders, further describing WOREE syndrome and phenotype/genotype correlations. METHODS: We report clinical and molecular findings in 20 additional patients from 18 unrelated families with WOREE syndrome and biallelic pathogenic variants in the WWOX gene. Different molecular screening approaches were used (quantitative polymerase chain reaction/multiplex ligation-dependent probe amplification [qPCR/MLPA], array comparative genomic hybridization [array-CGH], Sanger sequencing, epilepsy gene panel, exome sequencing), genome sequencing. RESULTS: Two copy-number variations (CNVs) or two single-nucleotide variations (SNVs) were found respectively in four and nine families, with compound heterozygosity for one SNV and one CNV in five families. Eight novel missense pathogenic variants have been described. By aggregating our patients with all cases reported in the literature, 37 patients from 27 families with WOREE syndrome are known. This review suggests WOREE syndrome is a very severe epileptic encephalopathy characterized by absence of language development and acquisition of walking, early-onset drug-resistant seizures, ophthalmological involvement, and a high likelihood of premature death. The most severe clinical presentation seems to be associated with null genotypes. CONCLUSION: Germline pathogenic variants in WWOX are clearly associated with a severe early-onset epileptic encephalopathy. We report here the largest cohort of individuals with WOREE syndrome.

14.
Early Hum Dev ; 129: 1-4, 2019 02.
Artigo em Inglês | MEDLINE | ID: mdl-30530269

RESUMO

During the Neonatal Intensive Care Unit (NICU) stay, very preterm (VPT) infants are exposed to life-saving yet pain-inducing skin-breaking procedures (i.e., NICU pain-related stress) which contribute to the programming of hypo-responsive HPA axis development during the first months of life. Unfortunately, to date the mechanisms linking NICU pain-related stress and altered HPA axis regulation are only limitedly known. Telomere length (TL) regulation is an epigenetic mechanism previously shown to be affected by early stress exposures and capable of associating with HPA axis reactivity in children. In VPT infants, NICU pain-related stress was found to associate with decreased TL from birth to discharge, but there is no evidence for the association between TL and HPA axis in these infants. In this study, we prospectively examined the relationship between NICU pain-related stress and HPA axis reactivity to an age-appropriate socio-emotional condition (i.e., the Still-Face Procedure, SFP) in healthy VPT infants at 3-month corrected age. NICU pain-related stress was computed as the ratio between the number of skin-breaking procedures and length of NICU stay. A differential score (i.e., ∆TL) was obtained subtracting TL at birth from TL at discharge. A normalized (log10) cortisol reactivity index (CRI) was obtained by averaging post-stress (20 min after SFP) salivary cortisol sample on baseline value. A regression model controlling for neonatal and socio-demographic confounders showed that ∆TL was the only significant predictor of CRI. Although preliminary, these findings contribute to our knowledge of the mechanisms linking early exposures to adversity and later in life regulation of the HPA axis in VPT infants.


Assuntos
Hidrocortisona/metabolismo , Lactente Extremamente Prematuro/metabolismo , Recém-Nascido de muito Baixo Peso/metabolismo , Estresse Psicológico/genética , Homeostase do Telômero , Feminino , Humanos , Sistema Hipotálamo-Hipofisário/metabolismo , Lactente Extremamente Prematuro/psicologia , Recém-Nascido , Recém-Nascido de muito Baixo Peso/psicologia , Masculino , Sistema Hipófise-Suprarrenal/metabolismo , Saliva/metabolismo , Estresse Psicológico/metabolismo
15.
Eur Radiol ; 29(2): 770-782, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30066250

RESUMO

OBJECTIVES: To describe the spectrum of brainstem malformations associated to mutations in the tubulin genes taking advantage of magnetic resonance imaging (MRI) and diffusion tensor imaging (DTI). METHODS: Fifteen patients (six males; median age, 1.25 years; range, 1 month to 31 years) with mutations in the tubulin genes (TUBA1A = 8, TUBB2B = 4, TUBB3 = 3) studied with MRI and DTI were included in the study. Brain MR exams were reviewed to describe the malformative aspects of the brainstem. Malformations of the supratentorial brain and cerebellum were also recorded. Tractography was performed in seven selected cases. RESULTS: Fourteen patients (93%) showed complex malformations of the brainstem. Most common findings, apparent on anatomical MR sequences, were brainstem asymmetry (12 cases, 5 of which with a crossed pattern characterised by a hypertrophic right medulla oblongata and hypertrophic left pons), short and small pons on midline (10 cases) and anterior brainstem clefting (6 cases). DTI revealed abnormal transverse pontine fibres (13 cases), fusion of corticospinal tracts and medial lemnisci (9 cases) and a small decussation of the superior cerebellar peduncles (7 cases). CONCLUSIONS: Conventional/anatomical MRI and DTI reveal a complex pattern of brainstem malformations associated with tubulin genes mutations. KEY POINTS: • Brainstem malformations affect 93% patients with mutated tubulin genes • MRI shows homolateral and crossed brainstem asymmetries, clefts and pons hypoplasia • DTI demonstrates irregular representation of transverse pontine fibres and fusion of corticospinal tracts.


Assuntos
Tronco Encefálico/anormalidades , Tronco Encefálico/diagnóstico por imagem , Mutação , Tubulina (Proteína)/genética , Adulto , Cerebelo/anormalidades , Cerebelo/diagnóstico por imagem , Criança , Imagem de Tensor de Difusão/métodos , Feminino , Humanos , Lactente , Imagem por Ressonância Magnética/métodos , Masculino , Ponte/anormalidades , Ponte/diagnóstico por imagem , Tratos Piramidais/patologia , Substância Branca/anormalidades , Substância Branca/diagnóstico por imagem
16.
Front Behav Neurosci ; 12: 286, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30532698

RESUMO

Developmental human behavioral epigenetics (DHBE) holds potential for contributing to better understanding of how early life exposures contribute to human developmental trajectories and to inform clinical practice and early interventions. Nonetheless, DHBE research to date is challenged by two major issues: (a) the frequent use of retrospective study designs; and (b) the major focus on epigenetic variations associated with early life adversities, rather than protective care exposures. In order for DHBE research to maintain its promises, these issues need to be addressed in a systematic way according to a careful methodological planning of study design. In this contribution, we provide pragmatic insights on methodological aspects that should be dealt with while designing DHBE studies. We propose different study designs for the retrospective and prospective investigation of both adversity- and care-related epigenetic variations. Examples from available scientific literature are provided to better describe the advantages and the limitations of each study design.

17.
Artigo em Inglês | MEDLINE | ID: mdl-30403813

RESUMO

Background: Joubert syndrome (JS) is an inherited ciliopathy characterized by a complex midbrain-hindbrain malformation and multiorgan involvement. Renal disease, mainly juvenile nephronophthisis (NPH), was reported in 25-30% patients although only ∼18% had a confirmed diagnosis of chronic kidney disease (CKD). NPH often remains asymptomatic for many years, resulting in delayed diagnosis. The aim of the study was to identify a biomarker able to quantify the risk of progressive CKD in young children with JS. Methods: Renal features were investigated in 93 Italian patients, including biochemical tests, ultrasound and 1-deamino-8D-arginine vasopressin test in children with reduced basal urine osmolality. A subset of patients was followed-up over time. Results: At last examination, 27 of 93 subjects (29%) presented with CKD, ranging from isolated urinary concentration defect (UCD) to end-stage renal disease. Both normal and pathological urine osmolality levels remained stable over time, even when obtained at very early ages. Follow-up data showed that the probability of developing CKD can be modelled as a function of the urine osmolality value, exceeding 75% for levels <600 mOsm/kg H2O, and significantly increased in patients with an early diagnosis of isolated UCD. Conclusions: We conclude that the frequency of CKD in JS increases with age and is higher than previously reported. Urine osmolality represents an early sensitive quantitative biomarker of the risk of CKD progression.

18.
Front Neurol ; 9: 721, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30271373

RESUMO

We describe the results of a functional and structural brain connectivity analysis comparing a homogeneous group of 10 young adults with Williams Syndrome (WS; 3 females, age 20. 7 ± 3.7 years, age range 17.4-28.7 years) to a group of 18 controls of similar age (3 females, age 23.9 ± 4.4 years, age range 16.8-30.2), with the aim to increase knowledge of the structure - function relationship in WS. Subjects underwent a 3T brain MRI exam including anatomical, functional (resting state) and structural (diffusion MRI) sequences. We found convergent anomalies in structural and functional connectivity in the WS group. Altered Fractional Anisotropy (FA) values in parieto-occipital regions were associated with increased connectivity in the antero-posterior pathways linking parieto-occipital with frontal regions. The analysis of resting state data showed altered functional connectivity in the WS group in main brain networks (default mode, executive control and dorsal attention, sensori-motor, fronto-parietal, ventral stream). The combined analysis of functional and structural connectivity displayed a different pattern in the two groups: in controls the highest agreement was found in frontal and visual areas, whereas in WS patients in posterior regions (parieto-occipital and temporal areas). These preliminary findings may reflect an altered "wiring" of the brain in WS, which can be driven by hyper-connectivity of the posterior regions as opposed to disrupted connectivity in the anterior areas, supporting the hypothesis that a different brain (organization) could be associated with a different (organization of) behavior in Williams Syndrome.

19.
Neuropsychologia ; 120: 124-136, 2018 11.
Artigo em Inglês | MEDLINE | ID: mdl-30359652

RESUMO

Representations of own and others' body play a crucial role in social interaction. While extensive knowledge has been gathered on the neuropsychological deficits affecting body representation in adult brain lesion patients, little is known on how acquired damage to a developing brain may affect this process. We tested it on pediatric brain tumor survivors, comparing the abilities of 30 children and adolescents (aged 8-16 years) surviving from a supratentorial tumor (STT) or an infratentorial tumor (ITT) in two different tasks of body representation. Thirty children with typical development (TD) served as control group. In the first task, we tested configural (body inversion effect) and holistic (composite illusion effect) processing of others' bodies. In the second task, we tested the ability to perform first-person and object-based mental spatial transformations of own body and external objects, respectively. Configural processing was spared in all patients. Conversely, ITT, but not STT patients, were impaired in the holistic processing of body stimuli. STT patients performed overall worse than both controls and ITT patients at mental spatial transformations of both own body and external objects. ITT children presented selective alteration in using the first-person transformation strategies with body stimuli. Results suggest that body-representation abilities may be heavily affected in pediatric brain tumor survivors. STTs may be associated to greater difficulties in mental visuo-spatial transformation abilities, likely reflecting damage to fronto-parietal circuits. Conversely, ITTs may be associated to specific disturbances of visual body perception abilities that require motor simulation processes, reflecting direct or indirect damage to cerebellar areas.


Assuntos
Imagem Corporal , Neoplasias Encefálicas/psicologia , Imaginação , Percepção Social , Percepção Espacial , Percepção Visual , Adolescente , Neoplasias Encefálicas/fisiopatologia , Neoplasias Encefálicas/reabilitação , Sobreviventes de Câncer/psicologia , Criança , Feminino , Humanos , Imaginação/fisiologia , Masculino , Percepção Espacial/fisiologia , Percepção Visual/fisiologia
20.
Childs Nerv Syst ; 34(12): 2415-2423, 2018 12.
Artigo em Inglês | MEDLINE | ID: mdl-30276651

RESUMO

PURPOSE: The female gender has been considered a risk factor for cognitive impairment in pediatric brain tumor survivors. However, it is still unknown which specific cognitive domains are at greater risk of impairment in females. The aim of this study was to explore differences between male and female children in distinct domains of cognitive functioning, in order to deepen knowledge on the topic. METHODS: The cognitive performance of 100 males and 71 females aged 6-16 years was assessed by Wechsler Intelligence Scales for Children-Third Edition (WISC-III). Differences between males and females were tested not only on intellectual quotients, but also on WISC-III subtests, which allow the evaluation of different cognitive domains. Analyses were performed in the whole sample and dividing children based on the supratentorial vs. infratentorial location of the tumor. RESULTS: Gender was the only predictor of VIQ in the whole group and in children with supratentorial tumor. Female children with supratentorial tumor performed significantly worse than males in four out of six verbal subtests. However, even among children with infratentorial tumor, females performed worse than males on two verbal subtests. CONCLUSIONS: Overall, findings of this study suggest that females may have more difficulties than males at manipulating verbal oral material. A possible explanation of these findings could be that females present a greater vulnerability to white matter damage due to the illness and post-adjuvant therapies, in line with reports of the literature on female children with lymphoblastic leukemia.


Assuntos
Neoplasias Encefálicas/complicações , Sobreviventes de Câncer/psicologia , Transtornos Cognitivos , Cognição , Adolescente , Neoplasias Encefálicas/psicologia , Criança , Transtornos Cognitivos/epidemiologia , Transtornos Cognitivos/etiologia , Feminino , Humanos , Inteligência , Masculino , Estudos Retrospectivos , Fatores de Risco , Fatores Sexuais , Escalas de Wechsler
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