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1.
Cereb Cortex ; 33(3): 543-556, 2023 01 05.
Artigo em Inglês | MEDLINE | ID: mdl-35266994

RESUMO

Audio-visual (AV) integration plays a crucial role in supporting social functions and communication in autism spectrum disorder (ASD). However, behavioral findings remain mixed and, importantly, little is known about the underlying neurophysiological bases. Studies in neurotypical adults indicate that oscillatory brain activity in different frequencies subserves AV integration, pointing to a central role of (i) individual alpha frequency (IAF), which would determine the width of the cross-modal binding window; (ii) pre-/peri-stimulus theta oscillations, which would reflect the expectation of AV co-occurrence; (iii) post-stimulus oscillatory phase reset, which would temporally align the different unisensory signals. Here, we investigate the neural correlates of AV integration in children with ASD and typically developing (TD) peers, measuring electroencephalography during resting state and in an AV integration paradigm. As for neurotypical adults, AV integration dynamics in TD children could be predicted by the IAF measured at rest and by a modulation of anticipatory theta oscillations at single-trial level. Conversely, in ASD participants, AV integration/segregation was driven exclusively by the neural processing of the auditory stimulus and the consequent auditory-induced phase reset in visual regions, suggesting that a disproportionate elaboration of the auditory input could be the main factor characterizing atypical AV integration in autism.


Assuntos
Transtorno do Espectro Autista , Transtorno Autístico , Adulto , Criança , Humanos , Percepção Visual/fisiologia , Eletroencefalografia , Comunicação
2.
Dyslexia ; 30(1): e1758, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38224428

RESUMO

Telemedicine approaches have proved to be valuable solutions for the delivery of treatment for many health-related issues, and crucial during the pandemics. Nonetheless, the efficacy of such Web-based practices in developmental dyslexia needs to be thoroughly evaluated. To this aim, the effects of a multi-componential program for neuropsychological intervention in dyslexia delivered as an outpatient program were compared with those obtained with a remotely delivered, Web-based treatment, based on the same methodological principles and delivered with the same duration and intensity. The treatment-related changes obtained with a combination of visual hemisphere-specific stimulation and training of visual-spatial attention through action video games, were compared to those obtained through remote treatment via the Tachidino Web-based platform. Both treatments had a duration of 4 weeks. The same battery of reading and phonemic awareness tests was delivered in presence, before and after treatment, as well as at 6-months follow-up. User satisfaction was assessed through parents and user questionnaires. Both treatments were significantly and similarly effective in improving reading speed, reading accuracy, and writing accuracy. No reduction in the effects was observed after treatment discontinuation. The Web-based treatment may thus offer a valid alternative to in-person intervention, optimizing the flexibility, capillary diffusion and cost-effectiveness of intervention.


Assuntos
Dislexia , Leitura , Humanos , Dislexia/terapia , Dislexia/psicologia , Estudos Prospectivos , Idioma , Atenção
3.
Eur Child Adolesc Psychiatry ; 33(1): 139-149, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-36695897

RESUMO

Recently, there has been an increase in telemedicine applied to child neuropsychiatry, such as the use of online platforms to collect remotely case histories and demographic and behavioral information. In the present proof-of-concept study, we aimed to understand to what extent information parents and teachers provide through online questionnaires overlaps with clinicians' diagnostic conclusions on attention-deficit/hyperactivity disorder (ADHD). Moreover, we intended to explore a possible role that autism spectrum disorders (ASD) symptoms played in this process. We examined parent- and teacher-rated questionnaires collected remotely and an on-site evaluation of intelligence quotients from 342 subjects (18% females), aged 3-16 years, and referred for suspected ADHD. An easily interpretable machine learning model-decision tree (DT)-was built to simulate the clinical process of classifying ADHD/non-ADHD based on collected data. Then, we tested the DT model's predictive accuracy through a cross-validation approach. The DT classifier's performance was compared with those that other machine learning models achieved, such as random forest and support vector machines. Differences in ASD symptoms in the DT-identified classes were tested to address their role in performing a diagnostic error using the DT model. The DT identified the decision rules clinicians adopt to classify an ADHD diagnosis with an 82% accuracy rate. Regarding the cross-validation experiment, our DT model reached a predictive accuracy of 74% that was similar to those of other classification algorithms. The caregiver-reported ADHD core symptom severity proved the most discriminative information for clinicians during the diagnostic decision process. However, ASD symptoms were a confounding factor when ADHD severity had to be established. Telehealth procedures proved effective in obtaining an automated output regarding a diagnostic risk, reducing the time delay between symptom detection and diagnosis. However, this should not be considered an alternative to on-site procedures but rather as automated support for clinical practice, enabling clinicians to allocate further resources to the most complex cases.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade , Transtorno do Espectro Autista , Transtorno Autístico , Neuropsiquiatria , Criança , Feminino , Humanos , Masculino , Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico , Transtorno do Espectro Autista/diagnóstico , Aprendizado de Máquina Supervisionado , Pré-Escolar , Adolescente
4.
Proc Natl Acad Sci U S A ; 117(44): 27712-27718, 2020 11 03.
Artigo em Inglês | MEDLINE | ID: mdl-33087573

RESUMO

Any defects of sociality in individuals diagnosed with autism spectrum disorder (ASD) are standardly explained in terms of those individuals' putative impairments in a variety of cognitive functions. Recently, however, the need for a bidirectional approach to social interaction has been emphasized. Such an approach highlights differences in basic ways of acting between ASD and neurotypical individuals which would prevent them from understanding each other. Here we pursue this approach by focusing on basic action features reflecting the agent's mood and affective states. These are action features Stern named "vitality forms," and which are widely assumed to substantiate core social interactions [D. N. Stern, The Interpersonal World of the Infant (1985); D. N. Stern, Forms of Vitality Exploring Dynamic Experience in Psychology, Arts, Psychotherapy, and Development (2010)]. Previously we demonstrated that, although ASD and typically developing (TD) children alike differentiate vitality forms when performing actions, ASD children express them in a way that is motorically dissimilar to TD children. To assess whether this motor dissimilarity may have consequences for vitality form recognition, we asked neurotypical participants to identify the vitality form of different types of action performed by ASD or TD children. We found that participants exhibited remarkable inaccuracy in identifying ASD children's vitality forms. Interestingly, their performance did not benefit from information feedback. This indicates that how people act matters for understanding others and for being understood by them. Because vitality forms pervade every aspect of daily life, our findings promise to open the way to a deeper comprehension of the bidirectional difficulties for both ASD and neurotypical individuals in interacting with one another.


Assuntos
Transtorno do Espectro Autista/psicologia , Compreensão , Reconhecimento Psicológico , Interação Social , Adulto , Criança , Feminino , Voluntários Saudáveis , Humanos , Masculino , Adulto Jovem
5.
J Child Lang ; 50(4): 841-859, 2023 07.
Artigo em Inglês | MEDLINE | ID: mdl-35343413

RESUMO

We investigated online early comprehension in Italian children aged 12 and 20 months, focusing on the role of morphosyntactic features (i.e., gender) carried by determiners in facilitating comprehension and anticipating upcoming words. A naturalistic eye-tracking procedure was employed, recording looking behaviours during a classical Looking-While-Listening task. Children were presented with sentences and pictures of two objects representing nouns characterised by either the same gender (determiner was uninformative) or a different gender (determiner was informative). As expected, 20-month-old children recognised the target picture when this was named, and they were faster in the different-gender condition. Interestingly, 12-month-old infants identified the target picture only when presented with an informative determiner (different-gender condition). These results suggest that, as early as 12 months of age and with an improvement seen at 20 months of age, toddlers can extract and use determiner gender features to enhance comprehension and make predictions about upcoming words.


Assuntos
Tecnologia de Rastreamento Ocular , Desenvolvimento da Linguagem , Humanos , Lactente , Idioma , Compreensão , Percepção Auditiva
6.
J Child Psychol Psychiatry ; 63(8): 871-880, 2022 08.
Artigo em Inglês | MEDLINE | ID: mdl-34787327

RESUMO

BACKGROUND: Emerging evidence suggests that antenatal exposure to maternal stress signals affects the development of the infant stress response systems. Animal studies indicate that maternal sensitive caregiving can reverse some of these effects. However, the generalizability of these findings to humans is unknown. This study investigated the role of maternal caregiving in the association between multiple markers of maternal antenatal stress and infant stress regulation. METHODS: The sample consisted of 94 mother-infant (N = 47 males, mean postnatal weeks = 12; SD = 1.84) dyads. Maternal levels of Interleukin-6, C-Reactive Protein (CRP), diurnal cortisol and alpha amylase, depressive and anxiety symptoms were assessed in late pregnancy (mean gestational age = 34.76; SD = 1.12), whereas postnatal symptomatology, caregiving, and infant cortisol response to the inoculation were evaluated at 3 months. RESULTS: Hierarchical linear models (HLMs) showed a significant interaction between maternal antenatal cortisol, caregiving, and time on infant cortisol reactivity, while controlling for gender, maternal age, and postnatal depression. Specifically, higher levels of maternal antenatal cortisol were associated with greater cortisol response only among infants of less emotionally available mothers. All other markers of antenatal stress were not significantly associated with infant cortisol reactivity either independently or in interaction with maternal caregiving. CONCLUSIONS: Albeit preliminary, results provide the first evidence in humans that maternal sensitive caregiving may eliminate the association between antenatal maternal cortisol and infant cortisol regulation.


Assuntos
Depressão Pós-Parto , Hidrocortisona , Adulto , Ansiedade , Depressão/psicologia , Feminino , Humanos , Hidrocortisona/metabolismo , Lactente , Masculino , Relações Mãe-Filho/psicologia , Mães/psicologia , Gravidez , Saliva , Estresse Psicológico/psicologia
7.
Infancy ; 27(2): 369-388, 2022 03.
Artigo em Inglês | MEDLINE | ID: mdl-35037381

RESUMO

Atypical sensory responses are included in the diagnostic criteria of autism spectrum disorder (ASD). Autistic individuals perform poorly during conditions that require integration across multiple sensory modalities such as audiovisual (AV) integration. Previous research investigated neural processing of AV integration in infancy. Yet, this has never been studied in infants at higher likelihood of later ASD (HR) using neurophysiological (EEG/ERP) techniques. In this study, we investigated whether ERP measures of AV integration differentiate HR infants from low-risk (LR) infants and whether early AV integration abilities are associated with clinical measures of sensory responsiveness. At age 12 months, AV integration in HR (n = 21) and LR infants (n = 19) was characterized in a novel ERP paradigm measuring the McGurk effect, and clinical measures of sensory responsiveness were evaluated. Different brain responses over the left temporal area emerge between HR and LR infants, specifically when AV stimuli cannot be integrated into a fusible percept. Furthermore, ERP responses related to integration of AV incongruent stimuli were found to be associated with sensory responsiveness, with reduced effects of AV incongruency being associated with reduced sensory reactivity. These data suggest that early identification of AV deficits may pave the way to innovative therapeutic strategies for the autistic symptomatology. Further replications in independent cohorts are needed for generalizability of findings.


Assuntos
Transtorno do Espectro Autista , Transtorno Autístico , Encéfalo/fisiologia , Humanos , Lactente , Fala
8.
Brain Behav Immun ; 89: 175-183, 2020 10.
Artigo em Inglês | MEDLINE | ID: mdl-32531426

RESUMO

Depression and anxiety symptoms are highly prevalent among women during pregnancy and post-partum. Previous studies suggest that one of the pathophysiological underpinnings could be an enhanced metabolism of tryptophan (Trp) into kynurenine (Kyn) due to increased inflammation. However, the longitudinal changes in the Kyn pathway and the complex interplay with inflammation and stress in women with perinatal depressive or anxiety symptoms are incompletely understood. We examined a cohort of healthy women at 34-36 gestational weeks. One hundred and ten women were assessed for salivary cortisol and 97 participants were also assessed for serum levels of Trp, Kyn and Interleukin 6 (IL-6). Women filled in two screening questionnaires for depressive (Edinburgh Postnatal Depression Scale (EPDS)) and anxiety (State Trait Anxiety Inventory subscale (STAI-S)) symptoms at 34-36 gestational weeks, delivery, 3 and 12 months postpartum. Unexpectedly, lower prenatal Kyn levels were associated with higher depressive symptoms in late pregnancy. Furthermore, prenatal Trp levels and the Kyn/Trp ratio moderate the association between IL-6 levels and depressive symptoms during the perinatal and the post-partum period. We found no interactions between Trp and Kyn biomarkers and cortisol on depressive symptoms. The observed associations were more robustly found for depressive symptoms, whereas weak and non-significant effects were found for the trajectory of anxiety symptoms. Overall, our data support the involvement of the Trp to Kyn pathway and inflammation in the course of depressive but not anxiety symptoms in women from late pregnancy until one-year post-partum, providing new evidence on the mechanisms regulating emotions during pregnancy and after delivery in a low-risk sample.


Assuntos
Interleucina-6 , Cinurenina , Ansiedade , Feminino , Humanos , Período Pós-Parto , Gravidez , Triptofano
9.
BMC Psychiatry ; 20(1): 377, 2020 07 17.
Artigo em Inglês | MEDLINE | ID: mdl-32680486

RESUMO

BACKGROUND: Increasing evidence suggests a complex role of family influences, such as the exposure to parent psychopathology through parenting behavior, in parent-to-child psychopathology transmission. Parenting behaviour could represent a relevant target of psychoeducative intervention. Given these premises, we aimed to evaluate homotypic and heterotypic relationships between parent and child psychopathology, mediated by parenting behaviours, taking into account the constructs of parent and offspring internalizing and externalizing psychopathology. METHODS: Internalizing and externalizing symptoms in 272 clinically-referred subjects (mean age = 14.5 ± 2.3; F = 23.5%) and their parents (mothers n = 272, fathers n = 242) were assessed through the Child Behavior Checklist and the Adult Self Report; four areas of parenting behaviours were investigated through the Family Life Questionnaire. Multiple mediation models were built, considering mother and father psychopathology scales as independent variables, parenting measures and family functioning as mediators (Affirmation, Rules, Discipline and Special Allowances), child psychopathology scales as dependent variables and demographic variables as covariates. RESULTS: Regression models showed a significant effect of maternal internalizing symptomatology on child externalizing behavioral problems; high levels of maternal pathology predicted high levels of children's psychopathology. A total mediating effect of parenting measures was found: high levels of internalizing symptoms in mothers predicted low levels of affirmation, which in turn predicted high levels of externalizing psychopathology in children. CONCLUSIONS: Our study results confirmed the existence of interdependent links between mothers' psychiatric symptomatology, parenting behaviour and offspring outcomes, specifically in an Italian context. On a clinical and rehabilitation basis, this work offers suggestions about parenting practices, specifically maternal, involved in the maintenance of child psychopathology.


Assuntos
Poder Familiar , Pais , Adulto , Criança , Estudos Transversais , Pai , Feminino , Humanos , Itália , Masculino , Mães
10.
Dev Psychobiol ; 62(8): 1100-1110, 2020 12.
Artigo em Inglês | MEDLINE | ID: mdl-32232990

RESUMO

Antenatal exposure to maternal stress is a factor that may impact on offspring cognitive development. While some evidence exists of an association between maternal antenatal depressive or anxiety symptoms and infants' cognitive outcomes, less is known about the role of biological indices of maternal antenatal stress in relation to infant cognitive development. The current study investigated the association between maternal depressive and anxiety symptoms, stress and inflammatory markers during pregnancy and infant's cognitive development in a sample of 104 healthy pregnant women (mean gestational age = 34.76; SD = 1.12) and their 12-week-old infants (mean postnatal weeks = 11.96; SD = 1.85). Maternal depressive and anxiety symptoms were evaluated during pregnancy, alongside measurements of serum Interleukin-6 (IL-6), C-Reactive Protein (CRP), salivary cortisol, and alpha amylase (sAA) concentrations. Infant cognitive development, maternal caregiving and concurrent anxiety or depressive symptoms were assessed 12 weeks after delivery. Hierarchical linear regressions indicated that higher maternal diurnal cortisol and CRP levels were independently associated with lower infant cognitive development scores, while adjusting for infant gender and gestational age, maternal IQ, caregiving, depressive, or anxiety symptoms. Though correlational, findings seem suggestive of a role for variation in maternal biological stress signals during pregnancy in influencing infants' early cognitive development.


Assuntos
Ansiedade , Desenvolvimento Infantil/fisiologia , Cognição/fisiologia , Depressão , Complicações na Gravidez , Estresse Psicológico , Ansiedade/imunologia , Ansiedade/metabolismo , Ansiedade/fisiopatologia , Depressão/imunologia , Depressão/metabolismo , Depressão/fisiopatologia , Feminino , Humanos , Lactente , Masculino , Gravidez , Complicações na Gravidez/imunologia , Complicações na Gravidez/metabolismo , Complicações na Gravidez/fisiopatologia , Efeitos Tardios da Exposição Pré-Natal/imunologia , Efeitos Tardios da Exposição Pré-Natal/metabolismo , Efeitos Tardios da Exposição Pré-Natal/fisiopatologia , Estresse Psicológico/imunologia , Estresse Psicológico/metabolismo , Estresse Psicológico/fisiopatologia
11.
Cereb Cortex ; 28(6): 2100-2108, 2018 06 01.
Artigo em Inglês | MEDLINE | ID: mdl-28498932

RESUMO

Although it is clear that early language acquisition can be a target of CNTNAP2, the pathway between gene and language is still largely unknown. This research focused on the mediation role of rapid auditory processing (RAP). We tested RAP at 6 months of age by the use of event-related potentials, as a mediator between common variants of the CNTNAP2 gene (rs7794745 and rs2710102) and 20-month-old language outcome in a prospective longitudinal study of 96 Italian infants. The mediation model examines the hypothesis that language outcome is explained by a sequence of effects involving RAP and CNTNAP2. The ability to discriminate spectrotemporally complex auditory frequency changes at 6 months of age mediates the contribution of rs2710102 to expressive vocabulary at 20 months. The indirect effect revealed that rs2710102 C/C was associated with lower P3 amplitude in the right hemisphere, which, in turn, predicted poorer expressive vocabulary at 20 months of age. These findings add to a growing body of literature implicating RAP as a viable marker in genetic studies of language development. The results demonstrate a potential developmental cascade of effects, whereby CNTNAP2 drives RAP functioning that, in turn, contributes to early expressive outcome.


Assuntos
Percepção Auditiva/fisiologia , Desenvolvimento da Linguagem , Proteínas de Membrana/genética , Proteínas do Tecido Nervoso/genética , Pré-Escolar , Potenciais Evocados P300/fisiologia , Feminino , Genótipo , Humanos , Lactente , Estudos Longitudinais , Masculino , Polimorfismo de Nucleotídeo Único , Estudos Prospectivos
12.
Nutr Neurosci ; 22(2): 132-144, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-28795659

RESUMO

Objectives: Gene-environment interaction is an emerging hypothesis to expound not only the autism pathogenesis but also the increased incidence of neurodevelopmental disorders (such as autistic spectrum disorder, attention-deficit, hyperactivity disorder). Among xenobiotics, mycotoxins are worldwide contaminants of food that provoke toxicological effects, crucially resembling several symptoms associated with autism such as oxidative stress, intestinal permeability, and inflammation. Here, we focused on a group of mycotoxins to test their role in the manifestation of autism, try to explain their mechanism of action, and discuss possible preventive and therapeutic interventions. Methods: Autistic children (n = 52) and healthy children [n = 58 (31 siblings and 27 unrelated subjects)] were recruited and body fluids and clinical data collected. The diagnosis of autism was made according to DSM V criteria, then with GMDS 0-2, WPPSI, and ADOS. Ochratoxin A (OTA), gliotoxin, zearalenone, and sphingosine/sphinganine ratio were determined by LC analysis in sera and urines. Statistical analysis was performed by the Wilcoxon Rank Sum (Mann-Whitney) test and Spearman test. Results: By comparing the results of autistic patients with those of unrelated controls, a significant association was found for OTA levels in urines (P = 0.0002) and sera (P = 0.0017), and also comparing patients with siblings and unrelated controls together (P = 0.0081). Discussion: Our results are the first describing a possible role of OTA in the pathobiology of autism. Recalling the male prevalence of ASD (male/female = 4-5/1), it is noted that, in animal models, OTA exerts its neurotoxicity especially in males. Moreover, in vitro, OTA increases microRNA-132 that is dysregulated in autistic patients and involved in reciprocal regulation of the autism-related genes MeCP2 and PTEN. A personalized diet coupled with probiotic administration, especially OTA adsorbing Lactobacillus, could ameliorate autistic symptoms in OTA-positive patients.


Assuntos
Transtorno do Espectro Autista , Micotoxinas/sangue , Micotoxinas/urina , Transtorno do Espectro Autista/sangue , Transtorno do Espectro Autista/etiologia , Transtorno do Espectro Autista/urina , Feminino , Humanos , Masculino , Ocratoxinas/sangue , Ocratoxinas/urina
13.
Eur Child Adolesc Psychiatry ; 28(4): 571-583, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30246216

RESUMO

This study aimed to investigate the efficacy of docosahexaenoic acid (DHA) dietary supplementation on behavior and cognition in school-aged, drug-naïve children with attention-deficit/hyperactivity disorder (ADHD). A total of 50 participants with ADHD aged 7 to 14 were enrolled in a 6-month randomized, placebo-controlled clinical trial and received either DHA or placebo. The primary outcome measure was the change in the ADHD rating scale IV Parent Version-Investigator (ADHD-RS-IV) after 4 and 6 months. Secondary outcome measures included Conners Parent Rating Scale-revised, other behavioral rating scales including quality of life and global functioning, and computerized cognitive tasks. Baseline assessment also addressed the blood fatty acids profile. No superiority of DHA supplement to placebo was observed on ADHD-RS-IV, the a priori primary outcome. DHA supplementation showed a significant, nonetheless quite small, effect on children's psychosocial functioning, emotional problems, and focused attention. Neither major nor minor adverse events were reported throughout the trial. This study shows that 6-month DHA supplementation has no beneficial effect on the symptoms of ADHD in school-aged, drug-naïve children with an established diagnosis of ADHD. Nevertheless, the 6 months treatment with supplemental DHA appears to have small positive effects on other behavioral and cognitive difficulties, which, in light of the absence of side-effects, could be reasonably followed up in future intervention studies. ( https://clinicaltrials.gov/ct2/show/NCT01796262 : The Effects of DHA on Attention Deficit and Hyperactivity Disorder (DADA)).


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade/tratamento farmacológico , Transtorno do Deficit de Atenção com Hiperatividade/psicologia , Comportamento Infantil/efeitos dos fármacos , Comportamento Infantil/psicologia , Cognição/efeitos dos fármacos , Ácidos Docosa-Hexaenoicos/administração & dosagem , Adolescente , Atenção/efeitos dos fármacos , Atenção/fisiologia , Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico , Criança , Cognição/fisiologia , Suplementos Nutricionais , Método Duplo-Cego , Feminino , Humanos , Masculino , Pais/psicologia , Qualidade de Vida , Resultado do Tratamento
14.
Brain Cogn ; 123: 34-46, 2018 06.
Artigo em Inglês | MEDLINE | ID: mdl-29505944

RESUMO

This fMRI study investigated mental simulation of state/psychological and action verbs during adolescence. Sixteen healthy subjects silently read verbs describing a motor scene or not (STIMULUS: motor, state/psychological verbs) and they were explicitly asked to imagine the situation or they performed letter detection preventing them from using simulation (TASK: imagery vs. letter detection). A significant task by stimuli interaction showed that imagery of state/psychological verbs, as compared to action stimuli (controlled by the letter detection) selectively increased activation in the right supramarginal gyrus/rolandic operculum and in the right insula, and decreased activation in the right intraparietal sulcus. We compared these data to those from a group of older participants (Tomasino et al. 2014a). Activation in the left supramarginal gyrus decreased for the latter group (as compared to the present group) for imagery of state/psychological verbs. By contrast, activation in the right superior frontal gyrus decreased for the former group (as compared to the older group) for imagery of state/psychological verbs.


Assuntos
Encéfalo/diagnóstico por imagem , Imaginação/fisiologia , Adolescente , Mapeamento Encefálico , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Leitura
15.
J Neurophysiol ; 117(4): 1474-1482, 2017 04 01.
Artigo em Inglês | MEDLINE | ID: mdl-28077667

RESUMO

Motor planning is not a monolithic process, and distinct stages of motor planning are responsible for encoding different levels of abstractness. However, how these distinct components are mapped into different neural substrates remains an open question. We studied one of these high-level motor planning components, defined as second-order motor planning, in a patient (R.G.) with an extremely rare case of cerebellar agenesis but without any other cortical malformations. Second-order motor planning dictates that when two acts must be performed sequentially, planning of the second act can influence execution of the first. We used an optoelectronic system for kinematic analysis to compare R.G.'s performance with age-matched controls in a second-order motor planning task. The first act was to reach for an object, and the second was to place it into a small or large container. Our results showed that despite the expected difficulties in fine-motor skills, second-order motor planning (i.e., the ability to modulate the first act as a function of the nature of the second act) was preserved even in the patient with congenital absence of the cerebellum. These results open new intriguing speculations about the role of the cerebellum in motor planning abilities. Although prudence is imperative when suggesting conclusions made on the basis of single-case findings, this evidence suggests fascinating hypotheses about the neural circuits that support distinct stages of the motor planning hierarchy, and regarding the functional role of second-order motor planning in motor cognition and its potential dysfunction in autism.NEW & NOTEWORTHY Traditionally, the cerebellum was considered essential for motor planning. By studying an extremely rare patient with cerebellar agenesis and a group of neurotypical controls, we found that high stages of the motor planning hierarchy can be preserved even in this patient with congenital absence of the cerebellum. Our results provide interesting insights that shed light on the neural circuits supporting distinct levels of motor planning. Furthermore, the results are intriguing because of their potential clinical implications in autism.


Assuntos
Cerebelo/fisiopatologia , Cognição/fisiologia , Atividade Motora/fisiologia , Desempenho Psicomotor/fisiologia , Anormalidades Múltiplas/patologia , Adulto , Estudos de Casos e Controles , Cerebelo/anormalidades , Cerebelo/patologia , Anormalidades do Olho/patologia , Humanos , Doenças Renais Císticas/patologia , Masculino , Pessoa de Meia-Idade , Retina/anormalidades , Retina/patologia
16.
J Hum Genet ; 62(11): 949-955, 2017 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-29066855

RESUMO

Developmental dyslexia (DD) is a complex heritable condition characterized by impaired reading abilities. Two well-replicated candidate risk factors are as follows: (1) regulatory element associated with dyslexia 1 (READ1), which is located in intron 2 of DCDC2 and acts as a binding site for protein regulation of DCDC2 expression; and (2) a three-single-nucleotide polymorphism risk haplotype spanning KIAA0319. Phylogenetically similar READ1 variants showed synergistic effects with the KIAA0319 risk haplotype on reading-related phenotypes in a general population sample. Here we examine the association between different allele classes in READ1, the KIAA0319 risk haplotype and reading-related traits in a cohort of 368 Italian children with DD and their siblings (n=266) by testing both main and non-additive effects. We replicated the deleterious main effects upon both reading accuracy and speed exerted by the longer READ1 alleles. We further supported the interdependence through non-additive, possibly antagonistic, effects between READ1 and the KIAA0319 risk haplotype on reading accuracy. By suggesting the presence of common biological processes underlying reading (dis)ability, these findings represent initial support for a generalist effect of the non-additive interdependence between READ1 and the KIAA0319 risk haplotype. Moreover, our results confirm that using as much information as possible about genetic interdependence among dyslexia-candidate genes can help in clinically assessing the individual risk for DD.


Assuntos
Dislexia/genética , Predisposição Genética para Doença , Proteínas Associadas aos Microtúbulos/genética , Proteínas do Tecido Nervoso/genética , Adolescente , Criança , Dislexia/epidemiologia , Dislexia/patologia , Feminino , Estudos de Associação Genética , Haplótipos , Humanos , Íntrons/genética , Itália/epidemiologia , Masculino , Elementos Reguladores de Transcrição/genética , Fatores de Risco
17.
Eur Child Adolesc Psychiatry ; 26(9): 1011-1030, 2017 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-27988864

RESUMO

Over the last 15 years, considerable interest has been given to the potential role of omega-3 polyunsaturated fatty acids (PUFAs) for understanding pathogenesis and treatment of neurodevelopmental and psychiatric disorders. This review aims to systematically investigate the scientific evidence supporting the hypothesis on the omega-3 PUFAs deficit as a risk factor shared by different pediatric neuropsychiatric disorders. Medline PubMed database was searched for studies examining blood docosahexaenoic acid (DHA) or eicosapentaenoic acid (EPA) status in children with neuropsychiatric disorders. Forty-one published manuscripts were compatible with the search criteria. The majority of studies on attention-deficit/hyperactivity disorder (ADHD) and autism found a significant decrease in DHA levels in patients versus healthy controls. For the other conditions examined-depression, juvenile bipolar disorder, intellectual disabilities, learning difficulties, and eating disorders (EDs)-the literature was too limited to draw any stable conclusions. However, except EDs, findings in these conditions were in line with results from ADHD and autism studies. Results about EPA levels were too inconsistent to conclude that EPA could be associated with any of the conditions examined. Finally, correlational data provided, on one hand, evidence for a negative association between DHA and symptomatology, whereas on the other hand, evidence for a positive association between EPA and emotional well-being. Although the present review underlines the potential involvement of omega-3 PUFAs in the predisposition to childhood neuropsychiatric disorders, more observational and intervention studies across different diagnoses are needed, which should integrate the collection of baseline PUFA levels with their potential genetic and environmental influencing factors.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade/tratamento farmacológico , Transtorno Autístico/tratamento farmacológico , Ácidos Docosa-Hexaenoicos/uso terapêutico , Ácido Eicosapentaenoico/uso terapêutico , Transtornos Mentais/metabolismo , Neuropsiquiatria/métodos , Adolescente , Criança , Pré-Escolar , Ácidos Docosa-Hexaenoicos/metabolismo , Ácido Eicosapentaenoico/metabolismo , Feminino , Humanos , Masculino , Transtornos Mentais/etiologia , Transtornos Mentais/patologia , Fatores de Risco
18.
Eur Child Adolesc Psychiatry ; 26(11): 1309-1317, 2017 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-28455596

RESUMO

Psychiatric disorders are amongst the most prevalent and impairing conditions in childhood and adolescence. Unfortunately, it is well known that general practitioners (GPs) and other frontline health providers (i.e., child protection workers, public health nurses, and pediatricians) are not adequately trained to address these ubiquitous problems (Braddick et al. Child and Adolescent mental health in Europe: infrastructures, policy and programmes, European Communities, 2009; Levav et al. Eur Child Adolesc Psychiatry 13:395-401, 2004). Advances in technology may offer a solution to this problem with clinical decision support systems (CDSS) that are designed to help professionals make sound clinical decisions in real time. This paper offers a systematic review of currently available CDSS for child and adolescent mental health disorders prepared according to the PRISMA-Protocols (Preferred Reporting Items for Systematic Reviews and Meta-Analyses Protocols). Applying strict eligibility criteria, the identified studies (n = 5048) were screened. Ten studies, describing eight original clinical decision support systems for child and adolescent psychiatric disorders, fulfilled inclusion criteria. Based on this systematic review, there appears to be a need for a new, readily available CDSS for child neuropsychiatric disorder which promotes evidence-based, best practices, while enabling consideration of national variation in practices by leveraging data-reuse to generate predictions regarding treatment outcome, addressing a broader cluster of clinical disorders, and targeting frontline practice environments.


Assuntos
Psiquiatria do Adolescente/normas , Psiquiatria Infantil/normas , Sistemas de Apoio a Decisões Clínicas/normas , Adolescente , Criança , Humanos
19.
Eur Child Adolesc Psychiatry ; 26(5): 549-557, 2017 May.
Artigo em Inglês | MEDLINE | ID: mdl-27844161

RESUMO

Researchers' interest have recently moved toward the identification of recurrent psychopathological profiles characterized by concurrent elevations on different behavioural and emotional traits. This new strategy turned to be useful in terms of diagnosis and outcome prediction. We used a person-centred statistical approach to examine whether different groups could be identified in a referred sample and in a general-population sample of children and adolescents, and we investigated their relation to DSM-IV diagnoses. A latent class analysis (LCA) was performed on the Child Behaviour Checklist (CBCL) syndrome scales of the referred sample (N = 1225), of the general-population sample (N = 3418), and of the total sample. Models estimating 1-class through 5-class solutions were compared and agreement in the classification of subjects was evaluated. Chi square analyses, a logistic regression, and a multinomial logistic regression analysis were used to investigate the relations between classes and diagnoses. In the two samples and in the total sample, the best-fitting models were 4-class solutions. The identified classes were Internalizing Problems (15.68%), Severe Dysregulated (7.82%), Attention/Hyperactivity (10.19%), and Low Problems (66.32%). Subsequent analyses indicated a significant relationship between diagnoses and classes as well as a main association between the severe dysregulated class and comorbidity. Our data suggested the presence of four different psychopathological profiles related to different outcomes in terms of psychopathological diagnoses. In particular, our results underline the presence of a profile characterized by severe emotional and behavioural dysregulation that is mostly associated with the presence of multiple diagnosis.


Assuntos
Sintomas Afetivos/diagnóstico , Transtornos do Comportamento Infantil/diagnóstico , Manual Diagnóstico e Estatístico de Transtornos Mentais , Comportamento Problema , Adolescente , Sintomas Afetivos/epidemiologia , Lista de Checagem , Criança , Transtornos do Comportamento Infantil/psicologia , Emoções , Feminino , Humanos , Modelos Logísticos , Masculino , Escalas de Graduação Psiquiátrica , Psicopatologia
20.
Int J Food Sci Nutr ; 68(6): 763-770, 2017 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-28276905

RESUMO

Cerebral palsy (CP) is associated with the presence of feeding disorders in almost 60% of the affected children with subsequent undernutrition reported in up to 46% of the subjects. Since undernutrition may have a detrimental impact on physical and cognitive development, the introduction of an adequate nutritional support should always be considered in children with neurological impairment. The aim of the present review is to provide a practical guide to the assessment of nutritional status in children with CP, in order to identify individuals at risk for malnutrition that need the introduction of an adequate and personalized nutritional support. This review summarizes the methods for the evaluation of oral-motor function, anthropometric parameters, body composition and energy balance in children with CP. Moreover, we reviewed the indications for the introduction of nutritional support, and the suggested modalities of intervention.


Assuntos
Paralisia Cerebral/dietoterapia , Avaliação Nutricional , Antropometria , Composição Corporal , Dieta , Metabolismo Energético , Nutrição Enteral , Humanos , Estado Nutricional
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