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1.
Proc Biol Sci ; 287(1935): 20201884, 2020 09 30.
Artigo em Inglês | MEDLINE | ID: mdl-32962551

RESUMO

Fast saccades are rapid automatic oculomotor responses to salient and ecologically important visual stimuli such as animals and faces. Discriminating the number of friends, foe, or prey may also have an evolutionary advantage. In this study, participants were asked to saccade rapidly towards the more numerous of two arrays. Participants could discriminate numerosities with high accuracy and great speed, as fast as 190 ms. Intermediate numerosities were more likely to elicit fast saccades than very low or very high numerosities. Reaction-times for vocal responses (collected in a separate experiment) were slower, did not depend on numerical range, and correlated only with the slow not the fast saccades, pointing to different systems. The short saccadic reaction-times we observe are surprising given that discrimination using numerosity estimation is thought to require a relatively complex neural circuit, with several relays of information through the parietal and prefrontal cortex. Our results suggest that fast numerosity-driven saccades may be generated on a single feed-forward pass of information recruiting a primitive system that cuts through the cortical hierarchy and rapidly transforms the numerosity information into a saccade command.


Assuntos
Movimentos Sacádicos , Adulto , Animais , Feminino , Humanos , Masculino , Tempo de Reação , Percepção Visual , Adulto Jovem
2.
J Vis ; 20(8): 7, 2020 08 03.
Artigo em Inglês | MEDLINE | ID: mdl-32756882

RESUMO

Visual crowding refers to the inability to identify objects when surrounded by other similar items. Crowding-like mechanisms are thought to play a key role in numerical perception by determining the sensory mechanisms through which ensembles are perceived. Enhanced visual crowding might hence prevent the normal development of a system involved in segregating and perceiving discrete numbers of items and ultimately the acquisition of more abstract numerical skills. Here, we investigated whether excessive crowding occurs in developmental dyscalculia (DD), a neurodevelopmental disorder characterized by difficulty in learning the most basic numerical and arithmetical concepts, and whether it is found independently of associated major reading and attentional difficulties. We measured spatial crowding in two groups of adult individuals with DD and control subjects. In separate experiments, participants were asked to discriminate the orientation of a Gabor patch either in isolation or under spatial crowding. Orientation discrimination thresholds were comparable across groups when stimuli were shown in isolation, yet they were much higher for the DD group with respect to the control group when the target was crowded by closely neighbouring flanking gratings. The difficulty in discriminating orientation (as reflected by the combination of accuracy and reaction times) in the DD compared to the control group persisted over several larger target flanker distances. Finally, we found that the degree of such spatial crowding correlated with impairments in mathematical abilities even when controlling for visual attention and reading skills. These results suggest that excessive crowding effects might be a characteristic of DD, independent of other associated neurodevelopmental disorders.


Assuntos
Aglomeração , Discalculia/fisiopatologia , Percepção Visual/fisiologia , Adulto , Atenção , Feminino , Humanos , Aprendizagem , Masculino , Testes Neuropsicológicos , Orientação Espacial , Reconhecimento Visual de Modelos , Tempo de Reação , Leitura , Adulto Jovem
3.
Proc Natl Acad Sci U S A ; 112(25): 7868-72, 2015 Jun 23.
Artigo em Inglês | MEDLINE | ID: mdl-26056294

RESUMO

Autism is known to be associated with major perceptual atypicalities. We have recently proposed a general model to account for these atypicalities in Bayesian terms, suggesting that autistic individuals underuse predictive information or priors. We tested this idea by measuring adaptation to numerosity stimuli in children diagnosed with autism spectrum disorder (ASD). After exposure to large numbers of items, stimuli with fewer items appear to be less numerous (and vice versa). We found that children with ASD adapted much less to numerosity than typically developing children, although their precision for numerosity discrimination was similar to that of the typical group. This result reinforces recent findings showing reduced adaptation to facial identity in ASD and goes on to show that reduced adaptation is not unique to faces (social stimuli with special significance in autism), but occurs more generally, for both parietal and temporal functions, probably reflecting inefficiencies in the adaptive interpretation of sensory signals. These results provide strong support for the Bayesian theories of autism.


Assuntos
Adaptação Psicológica , Transtornos Globais do Desenvolvimento Infantil/fisiopatologia , Criança , Feminino , Humanos , Masculino
4.
J Neurophysiol ; 117(2): 808-817, 2017 02 01.
Artigo em Inglês | MEDLINE | ID: mdl-27903636

RESUMO

Humans maintain a stable representation of the visual world effortlessly, despite constant movements of the eyes, head, and body, across multiple planes. Whereas visual stability in the face of saccadic eye movements has been intensely researched, fewer studies have investigated retinal image transformations induced by head movements, especially in the frontal plane. Unlike head rotations in the horizontal and sagittal planes, tilting the head in the frontal plane is only partially counteracted by torsional eye movements and consequently induces a distortion of the retinal image to which we seem to be completely oblivious. One possible mechanism aiding perceptual stability is an active reconstruction of a spatiotopic map of the visual world, anchored in allocentric coordinates. To explore this possibility, we measured the positional motion aftereffect (PMAE; the apparent change in position after adaptation to motion) with head tilts of ∼42° between adaptation and test (to dissociate retinal from allocentric coordinates). The aftereffect was shown to have both a retinotopic and spatiotopic component. When tested with unpatterned Gaussian blobs rather than sinusoidal grating stimuli, the retinotopic component was greatly reduced, whereas the spatiotopic component remained. The results suggest that perceptual stability may be maintained at least partially through mechanisms involving spatiotopic coding.NEW & NOTEWORTHY Given that spatiotopic coding could play a key role in maintaining visual stability, we look for evidence of spatiotopic coding after retinal image transformations caused by head tilt. To this end, we measure the strength of the positional motion aftereffect (PMAE; previously shown to be largely spatiotopic after saccades) after large head tilts. We find that, as with eye movements, the spatial selectivity of the PMAE has a large spatiotopic component after head rotation.


Assuntos
Movimentos Oculares/fisiologia , Movimentos da Cabeça/fisiologia , Dinâmica não Linear , Percepção Espacial/fisiologia , Adolescente , Adulto , Análise de Variância , Mapeamento Encefálico , Feminino , Humanos , Masculino , Estimulação Luminosa , Vias Visuais/fisiologia , Adulto Jovem
5.
Exp Brain Res ; 235(7): 2039-2047, 2017 07.
Artigo em Inglês | MEDLINE | ID: mdl-28352948

RESUMO

Development of the motor system lags behind that of the visual system and might delay some visual properties more closely linked to action. We measured the developmental trajectory of the discrimination of object size from observation of the biological motion of a grasping action in egocentric and allocentric viewpoints (observing action of others or self), in children and adolescents from 5 to 18 years of age. Children of 5-7 years of age performed the task at chance, indicating a delayed ability to understand the goal of the action. We found a progressive improvement in the ability of discrimination from 9 to 18 years, which parallels the development of fine motor control. Only after 9 years of age did we observe an advantage for the egocentric view, as previously reported for adults. Given that visual and haptic sensitivity of size discrimination, as well as biological motion, are mature in early adolescence, we interpret our results as reflecting immaturity of the influence of the motor system on visual perception.


Assuntos
Envelhecimento/fisiologia , Desenvolvimento Infantil/fisiologia , Retroalimentação Sensorial/fisiologia , Força da Mão/fisiologia , Desempenho Psicomotor/fisiologia , Percepção Visual/fisiologia , Adolescente , Criança , Pré-Escolar , Discriminação Psicológica , Feminino , Humanos , Masculino , Estimulação Luminosa , Tempo de Reação/fisiologia
6.
J Vis ; 15(5): 4, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26067522

RESUMO

We have recently provided evidence that the perception of number and texture density is mediated by two independent mechanisms: numerosity mechanisms at relatively low numbers, obeying Weber's law, and texture-density mechanisms at higher numerosities, following a square root law. In this study we investigated whether the switch between the two mechanisms depends on the capacity to segregate individual dots, and therefore follows similar laws to those governing visual crowding. We measured numerosity discrimination for a wide range of numerosities at three eccentricities. We found that the point where the numerosity regime (Weber's law) gave way to the density regime (square root law) depended on eccentricity. In central vision, the regime changed at 2.3 dots/°2, while at 15° eccentricity, it changed at 0.5 dots/°2, three times less dense. As a consequence, thresholds for low numerosities increased with eccentricity, while at higher numerosities thresholds remained constant. We further showed that like crowding, the regime change was independent of dot size, depending on distance between dot centers, not distance between dot edges or ink coverage. Performance was not affected by stimulus contrast or blur, indicating that the transition does not depend on low-level stimulus properties. Our results reinforce the notion that numerosity and texture are mediated by two distinct processes, depending on whether the individual elements are perceptually segregable. Which mechanism is engaged follows laws that determine crowding.


Assuntos
Aglomeração , Percepção de Forma/fisiologia , Reconhecimento Visual de Modelos/fisiologia , Adulto , Humanos , Masculino , Limiar Sensorial , Visão Ocular
7.
Brain Sci ; 14(7)2024 Jul 15.
Artigo em Inglês | MEDLINE | ID: mdl-39061452

RESUMO

The issue of literacy challenges among dyslexic adults remains a significant concern. This study investigates spelling deficits among highly educated adults with dyslexia learning a transparent orthography. Thirty-eight Italian dyslexic university students were examined and compared to a group of age- and education-matched typical readers. Firstly, we analyzed spelling performance using a Passage Dictation Test. Additionally, lists of words varying in length and word frequency were dictated under two experimental conditions: a normal condition (NC) and an articulatory suppression condition (ASC). The ASC assessed the participants' ability to spell with interference to the phonological (sublexical) spelling procedure, i.e., the most likely compensated spelling strategy of Italian dyslexic spellers. The results clearly indicated that, in spelling the meaningful passage, dyslexic participants underperformed compared to the controls, with a prevalence of lexical errors, despite the comparison with the normative reference data showing only mild spelling difficulties. In spelling isolated words in normal conditions, dyslexic participants performed within the reference norms and as accurately as control participants across all stimuli (short words, high- and low-frequency words), except for long words, where their spelling difficulties were evident. Articulatory suppression significantly impaired dyslexics' performance on short stimuli, reducing the usual sublexical advantage associated with them, and exacerbated misspellings on long words. Additionally, articulatory suppression disproportionately affected dyslexics' performance on high-frequency words, diminishing the typical lexical advantage associated with these words. Results are discussed in terms of their theoretical, clinical, and educational implications.

8.
Neuropsychiatr Dis Treat ; 20: 1367-1376, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38979398

RESUMO

Purpose: Recent literature has focused attention on the presence of autistic-like symptoms in children with Attention Deficit/Hyperactivity Disorder (ADHD), who often exhibit social difficulties, posing challenges for a distinct clinical diagnosis. The current study aimed to identify the specific pattern of autistic symptoms in subjects with ADHD or Autistic Spectrum Disorder (ASD), examining similarities or differences at both the domain and individual item levels. Patients and Methods: In this study, we enrolled 43 school-age children divided into the following: the ADHD group (n=25) consisted of children initially referred for ASD symptoms but subsequently clinically diagnosed with ADHD, and the ASD group consisted of 18 children with ASD. We used the Autism Diagnostic Observation Schedule, 2nd edition (ADOS-2), to examine relative differences in the presence of symptoms such as deficits in communication and social interaction, and restricted and repetitive behaviors in these two groups. Comparison between groups was conducted to explore differences in IQ, age, ADOS-2 domains, and externalizing and internalizing problems among the groups. Results: We found significant differences between the groups when comparing summary scores of ADOS-2 domains (Social Affect, Restricted and Repetitive Behavior, and Total Score). Interestingly, at the individual item level, the ADHD group exhibited a similar level of atypical behaviors compared to the ASD group in two items related to the social-communication area: "Pointing" and "Gestures". Additionally, the frequencies of "Stereotyped/idiosyncratic words or phrases", "Mannerisms", and "Repetitive interests and behaviors" also showed similarities between groups. Conclusion: These findings indicate the importance of exploring and developing potential transdiagnostic domains that could be targeted for treatments specifically designed for children with ADHD.

9.
Front Psychol ; 15: 1365980, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39171222

RESUMO

In this study, we analyzed the emotional and motivational aspects characterizing the profile of university students with Specific Learning Disorders (SLD). We assessed 61 university students, 32 with SLD (age = 23.6) and 29 in the control group (age = 23.00). The results highlighted that individuals with SLD exhibit higher levels of anxiety and depression and lower resilience compared to the control group. The Multidimensional Perfectionism Scale - Short Form, which explores perfectionism, did not reveal differences between the groups. Conversely, lower scores emerged in SLD students for the intrinsic motivation sub-scales of the Academic Motivation Scale. This indicates less engagement in studying out of personal cognitive curiosity. The Self-Regulated Knowledge Scale - University, which measures various cognitive strategies, showed significantly lower scores in the SLD group for knowledge linking, knowledge training, and knowledge critique. This suggests a lower frequency with which SLD students attempt to connect new knowledge with what they already possess, apply their knowledge, ask questions, and critically analyze what they have learned. Therefore, psychological and motivational consequences are evident in this population and can impact well-being and quality of life.

10.
J Neuropsychol ; 2024 Jul 02.
Artigo em Inglês | MEDLINE | ID: mdl-38956923

RESUMO

Obstructive sleep apnoea syndrome (OSAS) is a prevalent sleep-related breathing disorder that has been extensively studied for its effects on cognitive functions. However, little attention has been given to investigating Mind Reading (MR) skills in patients with OSAS. In this study, we employed a neuropsychological approach to thoroughly assess various facets of MR skills in patients with OSAS. Forty-two patients with untreated moderate or severe OSAS (AHI ≥15; 30 men, 12 women) and 16 healthy controls (7 men and 9 women), matched by age, were enrolled. To assess MR skills, we used: (i) The Story-based Empathy Task (SET), which includes three experimental conditions: identifying intentions (SET-IA), emotional states (SET-EA), and a control condition for inferring causality reactions (SET-CI); (ii) the Ekman 60 Faces Test (Ek60), which measures emotion recognition from facial expressions. Our findings revealed that patients with OSAS exhibit deficits in emotion-related MR skills, while their ability to make inferences about the cognitive states of social partners remains largely preserved. This finding corroborates previous evidence indicating that social cognition, particularly MR skills, may be one of the cognitive domains affected by OSAS. It emphasizes the significance of investigating social cognition and the relationship between MR skills and social functioning as a new and intriguing area of research in patients with OSAS.

11.
J Vis ; 13(5)2013 Apr 18.
Artigo em Inglês | MEDLINE | ID: mdl-23599418

RESUMO

Suchow and Alvarez (2011) recently devised a striking illusion, where objects changing in color, luminance, size, or shape appear to stop changing when they move. They refer to the illusion as "motion silencing of awareness to visual change." Here we present evidence that the illusion results from two perceptual processes: global motion and crowding. We adapted Suchow and Alvarez's stimulus to three concentric rings of dots, a central ring of "target dots" flanked on either side by similarly moving flanker dots. Subjects had to identify in which of two presentations the target dots were continuously changing (sinusoidally) in size, as distinct from the other interval in which size was constant. The results show: (a) Motion silencing depends on target speed, with a threshold around 0.2 rotations per second (corresponding to about 10°/s linear motion). (b) Silencing depends on both target-flanker spacing and eccentricity, with critical spacing about half eccentricity, consistent with Bouma's law. (c) The critical spacing was independent of stimulus size, again consistent with Bouma's law. (d) Critical spacing depended strongly on contrast polarity. All results imply that the "motion silencing" illusion may result from crowding.


Assuntos
Percepção de Cores/fisiologia , Aglomeração , Percepção de Movimento/fisiologia , Ilusões Ópticas/fisiologia , Percepção Espacial/fisiologia , Adulto , Feminino , Humanos , Masculino , Estimulação Luminosa/métodos , Psicometria , Limiar Sensorial/fisiologia
12.
Front Psychiatry ; 14: 1181466, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37181873

RESUMO

Background: Sleep disorders are one of the most common problems in children with Autism Spectrum Disorder (ASD). However, they often tend to be underdiagnosed and incorrectly treated in clinical practice. This study aims to identify sleep disorders in preschool children with ASD and to explore their relationship with the core symptoms of autism, the child's developmental and cognitive level as well as the psychiatric comorbidities. Methods: We recruited 163 preschool children with a diagnosis of ASD. The Children's Sleep Habits Questionnaire (CSHQ) assessed sleep conditions. Multiple standardized tests were used to evaluate intellectual abilities, the presence of repetitive behaviors (through the Repetitive Behavior Scale-Revised), as well as the emotional-behavioral problems and the psychiatric comorbidities (through the Child Behavior Checklist -CBCL 11/2-5). Results: The results showed that poor disorders had consistently higher scores in all areas assessed by the CSHQ and on the CBCL across all domains. The correlational analysis showed that severe sleep disorders were associated with higher scores in internalizing, externalizing, and total problems at the CBCL syndromic scales, and in all DSM-oriented CBCL subscales. Moreover, we found that the association between sleep disorders and restricted and repetitive behaviors (RRBs) is explained by the anxiety-related symptoms. Conclusion: Based on these findings, the study recommends that screening for sleep problems followed by early intervention should constitute a routine part of clinical practice for children with ASD.

13.
Proc Biol Sci ; 279(1740): 3091-7, 2012 Aug 07.
Artigo em Inglês | MEDLINE | ID: mdl-22535785

RESUMO

How our perceptual experience of the world remains stable and continuous despite the frequent repositioning eye movements remains very much a mystery. One possibility is that our brain actively constructs a spatiotopic representation of the world, which is anchored in external--or at least head-centred--coordinates. In this study, we show that the positional motion aftereffect (the change in apparent position after adaptation to motion) is spatially selective in external rather than retinal coordinates, whereas the classic motion aftereffect (the illusion of motion after prolonged inspection of a moving source) is selective in retinotopic coordinates. The results provide clear evidence for a spatiotopic map in humans: one which can be influenced by image motion.


Assuntos
Adaptação Fisiológica/fisiologia , Movimento (Física) , Percepção Espacial/fisiologia , Percepção Visual/fisiologia , Movimentos Oculares/fisiologia , Humanos , Estimulação Luminosa , Desempenho Psicomotor , Retina/fisiologia
14.
Neuropsychologia ; 166: 108140, 2022 02 10.
Artigo em Inglês | MEDLINE | ID: mdl-34990696

RESUMO

Developmental dyscalculia (DD) is a specific learning disability affecting the development of numerical and arithmetical skills. The origin of DD is typically attributed to the suboptimal functioning of key regions within the dorsal visual stream (parietal cortex) which support numerical cognition. While DD individuals are often impaired in visual numerosity perception, the extent to which they also show a wider range of visual dysfunctions is poorly documented. In the current study we measured sensitivity to global motion (translational and flow), 2D static form (Glass patterns) and 3D structure from motion in adults with DD and control subjects. While sensitivity to global motion was comparable across groups, thresholds for static form and structure from motion were higher in the DD compared to the control group, irrespective of associated reading impairments. Glass pattern sensitivity predicted numerical abilities, and this relation could not be explained by recently reported differences in visual crowding. Since global form sensitivity has often been considered an index of ventral stream function, our findings could indicate a cortical dysfunction extending beyond the dorsal visual stream. Alternatively, they would fit with a role of parietal cortex in form perception under challenging conditions requiring multiple element integration.


Assuntos
Discalculia , Percepção de Forma , Percepção de Movimento , Adulto , Discalculia/diagnóstico por imagem , Humanos , Matemática , Lobo Parietal/diagnóstico por imagem , Percepção Visual
15.
Front Neurosci ; 16: 752871, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35431787

RESUMO

Recent Bayesian models suggest that perception is more "data-driven" and less dependent on contextual information in autistic individuals than others. However, experimental tests of this hypothesis have given mixed results, possibly due to the lack of objectivity of the self-report methods typically employed. Here we introduce an objective no-report paradigm based on pupillometry to assess the processing of contextual information in autistic children, together with a comparison clinical group. After validating in neurotypical adults a child-friendly pupillometric paradigm, in which we embedded test images within an animation movie that participants watched passively, we compared pupillary response to images of the sun and meaningless control images in children with autism vs. age- and IQ-matched children presenting developmental disorders unrelated to the autistic spectrum. Both clinical groups showed stronger pupillary constriction for the sun images compared with control images, like the neurotypical adults. However, there was no detectable difference between autistic children and the comparison group, despite a significant difference in pupillary light responses, which were enhanced in the autistic group. Our report introduces an objective technique for studying perception in clinical samples and children. The lack of statistically significant group differences in our tests suggests that autistic children and the comparison group do not show large differences in perception of these stimuli. This opens the way to further studies testing contextual processing at other levels of perception.

16.
J Pers Med ; 12(11)2022 Oct 29.
Artigo em Inglês | MEDLINE | ID: mdl-36573785

RESUMO

Joint attention (JA)-the human ability to coordinate our attention with that of other people-is impaired in the early stage of Autism Spectrum Disorder (ASD). However, little is known about the JA skills in the younger siblings of children with ASD who do not develop ASD at 36 months of age [high-risk (HR)-noASD]. In order to advance our understanding of this topic, a prospective multicenter observational study was conducted with three groups of toddlers (age range: 18-33 months): 17 with ASD, 19 with HR-noASD and 16 with typical development (TD). All subjects underwent a comprehensive clinical assessment and an eye-tracking experiment with pre-recorded stimuli in which the visual patterns during two tasks eliciting initiating joint attention (IJA) were measured. Specifically, fixations, transitions and alternating gaze were analyzed. Clinical evaluation revealed that HR-noASD subjects had lower non-verbal cognitive skills than TD children, while similar levels of restricted and repetitive behaviors and better social communication skills were detected in comparison with ASD children. Eye-tracking paradigms indicated that HR-noASD toddlers had visual patterns resembling TD in terms of target-object-to-face gaze alternations, while their looking behaviors were similar to ASD toddlers regarding not-target-object-to-face gaze alternations. This study indicated that high-risk, unaffected siblings displayed a shared profile of IJA-eye-tracking measures with both ASD patients and TD controls, providing new insights into the characterization of social attention in this group of toddlers.

17.
Elife ; 102021 03 22.
Artigo em Inglês | MEDLINE | ID: mdl-33749589

RESUMO

We measured the modulation of pupil size (in constant lighting) elicited by observing transparent surfaces of black and white moving dots, perceived as a cylinder rotating about its vertical axis. The direction of rotation was swapped periodically by flipping stereo-depth of the two surfaces. Pupil size modulated in synchrony with the changes in front-surface color (dilating when black). The magnitude of pupillary modulation was larger for human participants with higher Autism-Spectrum Quotient (AQ), consistent with a local perceptual style, with attention focused on the front surface. The modulation with surface color, and its correlation with AQ, was equally strong when participants passively viewed the stimulus. No other indicator, including involuntary pursuit eye movements, covaried with AQ. These results reinforce our previous report with a similar bistable stimulus (Turi, Burr, & Binda, 2018), and go on to show that bistable illusory motion is not necessary for the effect, or its dependence on AQ.


Assuntos
Atenção , Transtorno Autístico/classificação , Percepção de Movimento , Personalidade , Pupila/fisiologia , Adulto , Feminino , Humanos , Itália , Estimulação Luminosa , Rotação , Adulto Jovem
18.
J Autism Dev Disord ; 51(8): 2908-2919, 2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-33089444

RESUMO

We measured the pupil response to a light stimulus subject to a size illusion and found that stimuli perceived as larger evoke a stronger pupillary response. The size illusion depends on combining retinal signals with contextual 3D information; contextual processing is thought to vary across individuals, being weaker in individuals with stronger autistic traits. Consistent with this theory, autistic traits correlated negatively with the magnitude of pupil modulations in our sample of neurotypical adults; however, psychophysical measurements of the illusion did not correlate with autistic traits, or with the pupil modulations. This shows that pupillometry provides an accurate objective index of complex perceptual processes, particularly useful for quantifying interindividual differences, and potentially more informative than standard psychophysical measures.


Assuntos
Transtorno do Espectro Autista/diagnóstico , Transtorno do Espectro Autista/fisiopatologia , Pupila/fisiologia , Reflexo Pupilar/fisiologia , Adulto , Feminino , Humanos , Ilusões/fisiologia , Masculino , Estimulação Luminosa , Adulto Jovem
19.
Children (Basel) ; 8(6)2021 Jun 18.
Artigo em Inglês | MEDLINE | ID: mdl-34207052

RESUMO

Autism is a neurodevelopmental disorder presenting in the first 3 years of life. Deficits occur in the core areas of social communication and interaction and restricted, repetitive patterns of behavior, interests or activities. The causes of autism are unknown, but clinical genetic studies show strong evidence in favor of the involvement of genetic factors in etiology. Molecular genetic studies report some associations with candidate genes, and candidate regions have emerged from several genome-wide linkage studies. Here, we report a clinical case of autism in a 6-year-old boy with double duplication on 10q11.22q11.23 with ASD (Autism Spectrum Disorder), intellectual disability, developmental delay, hypotonia, gross-motor skills deficit, overgrowth and mild dysmorphic features. In the literature, only five cases of ASD with 10q11.21q11.23 duplication are reported. This is the first extensive clinical description of an ASD subject with 10q11.22q11.23 duplication. Our findings suggest that 10q11.21q11.23 microduplication could represent a copy number variant that predisposes to autism.

20.
Neuropsychiatr Dis Treat ; 17: 2163-2172, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34262276

RESUMO

BACKGROUND: Children with autism spectrum disorder (ASD) share some symptoms with children with other neurodevelopmental disorders (ie, intellectual disability or communication disorders or language disorders). These similarities can make difficult to obtain an accurate diagnosis, which is essential to give targeted treatments to the patients. We aim to verify in our study if children with autistic traits who undergo to Autism Diagnostic Observation Schedule had specific clinical diagnosis. PATIENTS AND METHODS: We selected 73 children tested with ADOS-G or ADOS-2, for the presence of autistic symptoms. The whole sample did not reach the cut-off of ADOS and did not receive the ASD diagnosis, according to DSM-5. RESULTS: Results of this study showed that in order of frequency and early diagnosis, communication disorders (CD), mild intellectual disability (mID) and the attention deficit hyperactivity disorders (ADHD) represent the most common final clinical diagnosis in children with autistic traits. CONCLUSION: Our results showed as the CD was the common diagnosis of these children and that often associated with younger age. Moreover, analyses of ADOS domains and the difference of individual items between groups did not show the capacity to differentiate between different neurodevelopmental disorders in terms of differential diagnosis, and this confirms the need for integrating multiple sources of information during the diagnostic process.

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