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1.
J Pediatr Psychol ; 43(7): 800-813, 2018 08 01.
Artigo em Inglês | MEDLINE | ID: mdl-29701857

RESUMO

Background: In preschoolers with autism spectrum disorder (ASD) symptom, severity has a negative impact on the development of adaptive functioning, with critical consequences on the quality of life of those children. Developmental features such as reduced social interest or the presence of behavioral problems can further impede daily life learning experiences. Objectives: The first aim of this study is to confirm the negative impact of high symptom severity on adaptive functioning trajectories in preschoolers with ASD. The second objective intends to explore whether reduced social interest and severe behavioral problems negatively affect developmental trajectories of adaptive functioning in young children with ASD. Methods: In total, 68 children with ASD and 48 age and gender-matched children with typical development (TD) between 1.6 and 6 years were included in our study, and longitudinal data on adaptive functioning were collected (mean length of the longitudinal data collection was 1.4 years ± 0.6). Baseline measures of symptom severity, social interest, and behavioral problems were also obtained. Results: We confirmed that children with ASD show parallel developmental trajectories but a significantly lower performance of adaptive functioning compared with children with TD. Furthermore, analyses within ASD children demonstrated that those with higher symptom severity, reduced social interest, and higher scores of behavioral problems exhibited especially lower or faster declining trajectories of adaptive functioning. Conclusions: These findings bolster the idea that social interest and behavioral problems are crucial for the early adaptive functioning development of children with autism. The current study has clinical implications in pointing out early intervention targets in children with ASD.


Assuntos
Adaptação Psicológica/fisiologia , Transtorno do Espectro Autista/fisiopatologia , Transtorno do Espectro Autista/psicologia , Comportamento Infantil/psicologia , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Estudos Longitudinais , Masculino , Comportamento Problema/psicologia , Qualidade de Vida/psicologia , Índice de Gravidade de Doença , Comportamento Social
2.
Eur Child Adolesc Psychiatry ; 23(6): 425-36, 2014 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-23999732

RESUMO

22q11.2 deletion syndrome (22q11DS) is associated with increased risk for schizophrenia. Better identifying risk factors for the emergence of psychotic symptoms in this population is needed to improve clinical assessment and early interventions. Schizophrenia spectrum disorders, hallucinations and delusions were characterized in an original sample of 104 individuals with 22q11DS. Further analysis of positive and negative symptoms was performed in a subsample of 59 individuals. Finally, longitudinal data available in 56 patients were used to explore the developmental trajectories of psychotic symptoms as well as the associations between psychotic symptoms and cognitive functioning. Schizophrenia spectrum disorders and psychotic symptoms were frequent in adolescent and adults with 22q11DS. The severity of hallucinations and non-persecutory delusional ideas discriminated patients at ultra-high risk for conversion to psychosis. Whereas approximately one-third of patients experienced an emergence of psychotic symptoms during a 4-year interval, 20 % displayed transient symptoms. Individuals with psychotic symptoms were characterized by a lower cognitive functioning in the context of the 22q11DS. The present study adds important data on the characteristics and developmental trajectory of psychotic symptoms in this population. This information may ultimately help clinicians dealing with these patients to reduce the duration of untreated psychosis and improve outcome.


Assuntos
Síndrome de DiGeorge/psicologia , Transtornos Psicóticos/diagnóstico , Adolescente , Adulto , Criança , Cognição/fisiologia , Estudos Transversais , Delusões , Feminino , Alucinações , Humanos , Estudos Longitudinais , Masculino , Fatores de Risco , Esquizofrenia , Adulto Jovem
3.
Swiss Med Wkly ; 153: 40131, 2023 Dec 01.
Artigo em Inglês | MEDLINE | ID: mdl-38037847

RESUMO

AIMS: Early diagnosis of autism spectrum disorders (ASD) offers the possibility of early intervention and, in turn, gains in adaptive behaviour, language and cognition. The aim of the present study was to analyse whether age at diagnosis of autism spectrum disorders decreased in two regions of Switzerland from 2006 to 2016 following the implementation of different screening and referral techniques. In southern Switzerland, systematic paediatric screening using the Modified Checklist for Autism (M-CHAT) in toddlers was implemented in 2013, whereas in northwestern Switzerland, periodic trainings were used to increase paediatrician awareness of ASD. We investigated which method was associated with a younger average age at diagnosis. METHODS: We conducted a retrospective, two-centre study searching clinical records of children and adolescents (aged 0-16 years) diagnosed with ASD in two neuropaediatric departments at Swiss hospitals between January 2006 and December 2016. All patients were diagnosed via a standardised evaluation based on two approved diagnostic tests: the Autism Diagnostic Observation Schedule-Second Edition (ADOS-2) and the Autism Diagnostic Interview-Revised (ADI-R). RESULTS: In southern Switzerland, training and subsequent widespread use of the M-CHAT among paediatricians appeared to contribute to a significantly younger age at diagnosis. Age at diagnosis did not significantly decrease during the same period in northwestern Switzerland. CONCLUSION: Our results point to the possibility of successfully reducing age at diagnosis in specific geographic areas through the implementation of screening questionnaires, such as the M-CHAT, at year 2 well-baby visits.


Assuntos
Transtorno do Espectro Autista , Lactente , Humanos , Criança , Adolescente , Transtorno do Espectro Autista/diagnóstico , Suíça , Sensibilidade e Especificidade , Estudos Retrospectivos , Programas de Rastreamento/métodos , Lista de Checagem
4.
Psychiatry Res ; 196(2-3): 277-84, 2012 Apr 30.
Artigo em Inglês | MEDLINE | ID: mdl-22377578

RESUMO

Current research in schizophrenia suggests that negative symptoms cannot be considered a unitary construct and should be divided in two dimensions: lack of motivation and impoverishment of expression. In addition, negative symptoms are particularly related to decreased daily-life functioning. In the present study, we aimed to replicate these results in a sample of participants with 22q11.2 deletion syndrome (22q11DS), a neurogenetic condition associated with high risk of developing schizophrenia. We also expected to observe an association between the COMT Val/Met polymorphism and negative symptoms. We examined the factorial structure of negative symptoms in a sample of 47 individuals with 22q11DS using the Structured Interview for Prodromal Symptoms (SIPS) and the Positive and Negative Syndrome Scale (PANSS). We also performed stepwise regression analyses to investigate the associations between negative symptoms, adaptive skills and the COMT Val/Met polymorphism. Negative symptoms were explained by a two-factor solution, namely the "amotivation and social withdrawal" and the "emotional withdrawal and expression" dimensions. The motivational dimension was significantly associated with daily-life functioning. Met carriers were rated as experiencing significantly more symptoms of amotivation. The results are interpreted in the light of existing cognitive models in the field of motivation and schizophrenia.


Assuntos
Transtornos Cognitivos/etiologia , Síndrome de DiGeorge/complicações , Adaptação Psicológica/fisiologia , Adolescente , Catecol O-Metiltransferase/genética , Criança , Transtornos Cognitivos/genética , Análise Fatorial , Feminino , Humanos , Inteligência , Masculino , Testes Neuropsicológicos , Polimorfismo Genético/genética , Valor Preditivo dos Testes , Escalas de Graduação Psiquiátrica , Índice de Gravidade de Doença , Adulto Jovem
5.
Br J Clin Psychol ; 49(Pt 3): 373-86, 2010 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-19744356

RESUMO

OBJECTIVES: The present report examines the monitoring of self-generated speech in adolescents with 22q11.2 deletion syndrome (22q11DS), a neurogenetic disorder associated with very high risk for psychosis. DESIGN: Between-participant group design. METHODS: In this study, 20 adolescents with 22q11DS, 19 age- and IQ-matched controls, and 19 typically developing adolescents were enrolled. Participants completed a speech-monitoring task, in which they were asked to silently or overtly read a series of word and non-word items. Subjects then filled out a recognition sheet containing studied and novel items. They were asked to identify the previously studied item, and to attribute the reading condition (silent vs. overt) under which each recognized item was encoded. RESULTS: Adolescents with 22q11DS commit more external attribution errors compared to both control groups, by exhibiting an increased tendency to report silently read items as though they had been read overtly. Further, results suggest that increased cognitive effort exacerbates the external attribution tendency in adolescents with 22q11DS. Increased internal attributions were also observed in the IQcontrol and 22q11DS groups in comparison to typically developing adolescents. CONCLUSIONS: Similarly to adult individuals exhibiting positive symptoms of psychosis, adolescents with 22q11DS exhibit an external attribution bias for inner speech. This bias seems to be exacerbated by increased cognitive effort, suggesting a failure to recollect information pertaining to cognitive operations during self-monitoring. Cognitive biases associated to schizophrenia may be detected in adolescents at very high risk for psychosis. These observations provide further evidence for the presence of an external attribution bias along the clinical continuum of psychosis vulnerability.


Assuntos
Síndrome de DiGeorge , Fala , Adolescente , Análise de Variância , Estudos de Casos e Controles , Síndrome de DiGeorge/complicações , Síndrome de DiGeorge/psicologia , Feminino , Humanos , Testes de Linguagem , Masculino , Escalas de Graduação Psiquiátrica , Transtornos Psicóticos/etiologia , Transtornos Psicóticos/psicologia , Fatores de Risco , Autoavaliação (Psicologia)
6.
Front Psychiatry ; 11: 568997, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33519540

RESUMO

Diminished orienting to social stimuli, and particularly to faces, is a core feature of autism spectrum disorders (ASDs). Impaired face processing has been linked to atypical attention processes that trigger a cascade of pathological development contributing to impaired social communication. The aim of the present study is to explore the processing of emotional and neutral faces using an eye-tracking paradigm (the emotional faces task) with a group of 24 children with ASD aged 6 and under and a group of 22 age-matched typically developing (TD) children. We also measure habituation to faces in both groups based on the presentation of repeated facial expressions. Specifically, the task consists of 32 pairs of faces, a neutral face and an emotional face from the same identity, shown side by side on the screen. We observe differential exploration of emotional faces in preschoolers with ASD compared with TD. Participants with ASD make fewer fixations to emotional faces than their TD peers, and the duration of their first fixation on emotional faces is equivalent to their first fixation on neutral faces. These results suggest that emotional faces may be less interesting for children with ASD. We also observe a habituation process to neutral faces in both children with ASD and TD, who looked less at neutral faces during the last quarter of the task compared with the first quarter. By contrast, TD children show increased interest in emotional faces throughout the task, looking slightly more at emotional faces during the last quarter of the task than during the first quarter. Children with ASD demonstrate neither habituation nor increased interest in the changing emotional expressions over the course of the task, looking at the stimuli for equivalent time throughout the task. A lack of increased interest in emotional faces may suggest a lack of sensitivity to changes in expression in young children with ASD.

7.
Dev Sci ; 12(6): F16-25, 2009 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-19840035

RESUMO

Viewing faces or bodies activates category-selective areas of visual cortex, including the fusiform face area (FFA), fusiform body area (FBA), and extrastriate body area (EBA). Here, using fMRI, we investigate the development of these areas, focusing on the right FFA and FBA. Despite the overlap of functionally defined FFA and FBA (54%-75% overlap), we found that these regions developed along different trajectories. With age (7-32 years old), the FFA gradually increased in size and selectivity, and was significantly larger and more face-selective in adults than children. By contrast, the size and selectivity of the FBA did not correlate with age, and were equivalent in children and adults. Whereas in adults the FFA and FBA were comparable in size, in children the FBA was on average 70% larger than the FFA. These findings suggest that, in children, the fusiform gyrus is predominantly selective for bodies, with commensurate face-selective responses apparent later in development. Moreover, differences in the development of the FFA and FBA indicate that overlapping functional brain areas, supported by the same anatomical structure, can develop along different trajectories.


Assuntos
Reconhecimento Visual de Modelos/fisiologia , Córtex Visual/fisiologia , Adolescente , Adulto , Mapeamento Encefálico , Criança , Face , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Testes Psicológicos , Adulto Jovem
8.
Dev Med Child Neurol ; 51(9): 746-53, 2009 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-19416334

RESUMO

22q11.2 deletion syndrome (22q11.2DS) is a common genetic condition associated with cognitive and learning impairments. In this study, we applied a three-dimensional method for quantifying gyrification at thousands of points over the cortical surface to imaging data from 44 children, adolescents, and young adults with 22q11.2DS (17 males, 27 females; mean age 17y 2mo [SD 9y 1mo], range 6-37y), and 53 healthy participants (21 males, 32 females; mean age 15y 4mo [SD 8y 6mo]; range 6-40y). Several clusters of reduced gyrification were observed, further substantiating the pattern of cerebral alterations presented by children with the syndrome. Comparisons within 22q11.2DS demonstrated an effect of congenital heart disease (CHD) on cortical gyrification, with reduced gyrification at the parieto-temporo-occipital junction in patients with CHD, as compared with patients without CHD. Reductions in gyrification can resemble mild polymicrogyria, suggesting early abnormal neuronal proliferation or migration and providing support for an effect of hemodynamic factors on brain development in 22q11.2DS. The results also shed light on the pathophysiology of acquired brain injury in other populations with CHD.


Assuntos
Córtex Cerebral/patologia , Síndrome de DiGeorge/complicações , Síndrome de DiGeorge/patologia , Cardiopatias Congênitas/complicações , Cardiopatias Congênitas/patologia , Adolescente , Adulto , Estudos de Casos e Controles , Criança , Estudos de Coortes , Feminino , Humanos , Imageamento Tridimensional , Imageamento por Ressonância Magnética , Masculino , Tamanho do Órgão , Adulto Jovem
9.
Neuropsychologia ; 46(12): 2986-92, 2008 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-18616958

RESUMO

A similar pattern of deficits in executive function and neuroanatomical abnormalities is shared between 22q 11.2 deletion syndrome (22q 11DS) and schizophrenia, suggesting that common cerebral alterations may lead to cognitive dysfunction and promote the appearance of psychotic symptoms in 22q 11DS individuals. Specifically, there is increasing evidence for involvement of the cingulate gyrus (CG) in executive dysfunction and the expression of positive symptoms in schizophrenia. The aim of our study is to examine CG morphology in a 22q 11DS population and its potential role as a cerebral marker of executive dysfunction and the manifestation of psychotic symptoms. Using region of interest (ROI)-based analysis, we compared CG volumes from 58 children and adults affected by 22q 11DS with 64 healthy age- and gender-matched controls. After covarying for total cranium grey matter and age, a bilateral reduced CG grey matter volume, driven by a decrease in anterior CG cortex, was observed among 22q 11DS patients. Further post hoc analyses suggest correlations between right CG cortical reductions, low-executive functioning and the occurrence of psychotic symptoms. The CG structural abnormalities observed in 22q 11DS are consistent with previous reports in schizophrenic patients and are associated with pre-morbid cognitive impairments. The mechanisms by which these changes may modulate executive functioning and the expression of psychosis are discussed.


Assuntos
Cognição/fisiologia , Síndrome de DiGeorge/patologia , Giro do Cíngulo/patologia , Transtornos Psicóticos/patologia , Adolescente , Adulto , Análise de Variância , Estudos de Casos e Controles , Criança , Síndrome de DiGeorge/complicações , Síndrome de DiGeorge/psicologia , Feminino , Lateralidade Funcional , Giro do Cíngulo/fisiologia , Giro do Cíngulo/fisiopatologia , Humanos , Masculino , Tamanho do Órgão , Transtornos Psicóticos/complicações , Transtornos Psicóticos/genética , Valores de Referência , Estatísticas não Paramétricas
10.
Neuropsychology ; 22(2): 226-34, 2008 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-18331165

RESUMO

Velo-cardio-facial syndrome (VCFS) is a neurogenetic disorder associated with very high risk for developing schizophrenia. More than half of affected individuals experience transient psychotic symptoms during childhood and a third may develop schizophrenia. Memory regulation deficits disturbing both the encoding and retrieval stages of memory represent core deficits in the cognitive profile associated with schizophrenia. In this study, the authors investigate memory regulation processes in 33 individuals with VCFS along with 33 age- and sex-matched control participants. By using a directed forgetting paradigm and a continuous recognition paradigm, the authors examined selective encoding and suppression of irrelevant contents during retrieval in VCFS. Group comparison analyses revealed comparable performances on selective encoding and recognition accuracy between the VCFS group and control group. However, individuals with VCFS were more likely to make false recognitions and showed deficits in the suppression of irrelevant contents. Results suggest that trait-like deficits of memory regulation in VCFS can be observed during the retrieval stage, while selective encoding remains efficient. Memory regulation processes during retrieval may constitute a trait deficit in the memory profile of individuals with VCFS and may contribute to the cognitive deficits underlying an increased risk for developing schizophrenia in this population.


Assuntos
Síndrome de DiGeorge/psicologia , Memória/fisiologia , Rememoração Mental/fisiologia , Adolescente , Adulto , Criança , Síndrome de DiGeorge/complicações , Feminino , Humanos , Testes de Inteligência , Masculino , Testes Neuropsicológicos , Escalas de Graduação Psiquiátrica , Desempenho Psicomotor/fisiologia , Transtornos Psicóticos/etiologia , Transtornos Psicóticos/psicologia , Reconhecimento Psicológico/fisiologia , Psicologia do Esquizofrênico
11.
J Neurodev Disord ; 10(1): 26, 2018 08 29.
Artigo em Inglês | MEDLINE | ID: mdl-30157749

RESUMO

BACKGROUND: Previous research links social difficulties to atypical face exploration in 22q11.2 deletion syndrome (22q11.2DS). Two types of face processing are distinguished: configural (CFP) and featural (FFP). CFP develops later in life and plays an important role in face and emotion recognition abilities. Recent studies reported atypical development of CFP in several neurodevelopmental disorders. Taking previous reports of atypical face exploration one step further, our study aims at characterizing face processing in children and adolescents with 22q11.2DS. First, we sought to identify biases in the first two fixation positions on faces and to detect differences between CFP and FFP in 22q11.2DS using eye-tracking technology. Second, we investigated the developmental trajectories of CFP and FFP using accuracy data from follow-up evaluation. METHODS: Seventy-five individuals with 22q11.2DS and 84 typically developed (TD) individuals (aged 6-21 years) completed a discrimination task ("Jane task") inducing CFP and FFP in an eye-tracking setting. Thirty-six individuals with 22q11DS and 30 TD from our sample completed a longitudinal follow-up evaluation. RESULTS: Findings revealed that individuals with 22q11.2DS demonstrate an early bias toward the mouth region during the initial fixations on the faces and reduced flexibility exploration of the faces, with a reduced number of transitions between faces and longer fixations compared to the TD group. Further, scanpaths did not differ between CFP and FFP in the 22q11.2DS group. Longitudinal analysis of accuracy data provided evidence for atypical development of CFP in 22q11.2DS. CONCLUSIONS: The current study brings new evidence of altered face exploration in 22q11.2DS and identifies developmental mechanisms that may contribute to difficulties impacting social interactions in the syndrome.


Assuntos
Síndrome da Deleção 22q11/psicologia , Reconhecimento Facial , Fixação Ocular , Adolescente , Adulto , Criança , Estudos Transversais , Discriminação Psicológica , Comportamento Exploratório , Medições dos Movimentos Oculares , Feminino , Humanos , Estudos Longitudinais , Masculino , Adulto Jovem
12.
Schizophr Res ; 96(1-3): 82-6, 2007 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-17826962

RESUMO

Identifying the neural underpinnings of socio-emotional deficits in 22q11.2 deletion syndrome (22q11DS) may elucidate recurrent psychosis in affected individuals. In the current study, we investigate volumetric changes in 22q11DS to the fusiform gyrus (FG), a region associated with hypoactivity during fMRI, by manually tracing the FG in 42 individuals with 22q11DS and 54 healthy controls. Larger anterior FG volumes and smaller posterior volumes bilaterally are observed in 22q11DS after controlling for total brain volume. The results demonstrate structural changes to the FG in 22q11DS, providing evidence for neural vulnerability in regions related to social cognition.


Assuntos
Síndrome de DiGeorge/patologia , Síndrome de DiGeorge/psicologia , Giro do Cíngulo/patologia , Adolescente , Adulto , Encéfalo/anatomia & histologia , Encéfalo/patologia , Criança , Síndrome de DiGeorge/genética , Feminino , Giro do Cíngulo/anatomia & histologia , Humanos , Imageamento por Ressonância Magnética , Masculino , Variações Dependentes do Observador , Valores de Referência
13.
PLoS One ; 12(6): e0178859, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28599002

RESUMO

Children with Autism Spectrum Disorders (ASD) orient less to socially salient stimuli, such as dynamic social images, than typically developing children. In turn, this lack of social orienting is thought to impair affected individuals' socio communicative development. Here, we aim to explore the relationship between time spent on dynamic social images and ASD behaviors, such as joint attention and communication, in preschoolers on the autism spectrum. In this study, social orienting is measured using eye-tracking during a task consisting of side-by-side presentations of dynamic social images and dynamic geometric images. The side of the screen where each type of video was presented alternated between items to avoid visual perseveration from influencing the location of participants' first fixations. Visual exploration patterns recorded during the task from 33 preschoolers with ASD were compared with those of 27 typical developing (TD) children. Additionally, we quantified joint attention behaviors and used standardized parent reports to measure communication. We observed reduced orienting to dynamic social images in preschoolers with ASD compared to TD children. Also, ASD participants went to the dynamic social images less frequently for their first fixations. However, we observed great heterogeneity within the ASD group. ASD preschoolers who spent more time on the dynamic social images also presented more pronounced visual engagement with the dynamic social images (longer mean fixation duration and fewer saccades per second). Moreover, in the ASD group, more time spent on dynamic social images correlated with increased frequency of joint attention behaviors, which in turn correlated with improved communication skills. Our results support reduced social orienting in children with ASD, which correlated with their visual exploration patterns. Further, reduced orienting to the social world in young children with ASD is related to socio communicative deficits and should, therefore, be a focus of intervention programs as early as possible.


Assuntos
Atenção , Transtorno do Espectro Autista/psicologia , Comportamento Infantil , Orientação , Comportamento Social , Pré-Escolar , Comunicação , Feminino , Humanos , Lactente , Masculino , Estimulação Luminosa
15.
Am J Psychiatry ; 163(3): 537-9, 2006 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-16513880

RESUMO

OBJECTIVE: Previous studies linking the catechol O-methyltransferase (COMT) functional polymorphism to the specific phenotype in 22q11.2 deletion syndrome (22q11.2DS) have yielded inconsistent results. The goal of the present study was to replicate a recent finding that executive function is higher in individuals hemizygous for the Met allele. METHOD: Thirty-four children and young adults with a 22q11.2 microdeletion, hemizygous for the Val (N=14) or Met (N=20) polymorphism, were tested on measures of executive function, IQ, and memory. RESULTS: No significant differences were detected between Met- and Val-hemizygous participants on measures of executive function. The groups did not differ on full-scale, performance, and verbal IQ or on verbal and visual memory. CONCLUSIONS: These results suggest either a small effect of the COMT polymorphism on executive function in 22q11.2DS or no effect at all. Further research is needed to characterize the implications of hemizygosity of COMT in 22q11.2DS for cognitive function.


Assuntos
Catecol O-Metiltransferase/genética , Transtornos Cognitivos/diagnóstico , Síndrome de DiGeorge/genética , Lobo Frontal/fisiologia , Polimorfismo Genético , Adolescente , Adulto , Catecol O-Metiltransferase/metabolismo , Criança , Transtornos Cognitivos/genética , Síndrome de DiGeorge/diagnóstico , Síndrome de DiGeorge/enzimologia , Feminino , Expressão Gênica/genética , Expressão Gênica/fisiologia , Predisposição Genética para Doença , Genótipo , Humanos , Masculino , Metionina/genética , Metionina/metabolismo , Testes Neuropsicológicos , Valina/genética , Valina/metabolismo
16.
Neuropsychologia ; 44(12): 2360-5, 2006.
Artigo em Inglês | MEDLINE | ID: mdl-16787654

RESUMO

Hippocampal volume reduction and decreased memory skills form a characteristic neurofunctional alteration observed in schizophrenia. Individuals affected with 22q11.2 deletion syndrome (22q11DS), while exhibiting memory deficits throughout development, are also at high risk for developing schizophrenia. The present study sought to investigate hippocampal volume reduction as separate of global grey matter reduction in a large, independent sample of individuals with 22q11DS. Volumetric data from structural magnetic resonance imaging was obtained for 43 individuals affected with 22q11DS, aged 6-39 years of age, as well as for 40 healthy individuals matched for age and gender. Drawing of the amygdala was included to enhance the delineation of the hippocampus, and circumscription of both the amygdala and the hippocampus were executed using an increased resolution matrix. After controlling for total grey volume reductions observed in affected individuals, a significant decrease in hippocampus volume was observed in the 22q11DS group, driven by significant bilateral volumetric reduction of the body of the hippocampus. These results are discussed in reference to memory and cerebral alterations already reported in 22q11DS. Further, the specific implications of hippocampus body volume reduction are outlined in light of its anatomical relationships and its function in memory. Finally, reduction of hippocampal volume in 22q11DS is examined in the context of psychiatric risk status associated to the deletion.


Assuntos
Deleção Cromossômica , Transtornos Cromossômicos/genética , Transtornos Cromossômicos/patologia , Cromossomos Humanos Par 22/genética , Hipocampo/patologia , Adolescente , Adulto , Estudos de Casos e Controles , Criança , Transtornos Cromossômicos/complicações , Feminino , Humanos , Testes de Inteligência , Imageamento por Ressonância Magnética/métodos , Masculino , Análise Multivariada , Esquizofrenia/etiologia , Esquizofrenia/genética
17.
Schizophr Res ; 84(2-3): 187-93, 2006 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-16545541

RESUMO

Individuals with 22q11.2 deletion syndrome (22q11DS) are at increased risk for developing schizophrenia: half of affected adolescents report transient psychotic experiences and up to 30% of adults are diagnosed with schizophrenia. Prospective studies have shown that psychotic symptoms in childhood are predictive of later schizophreniform disorders. The current study aimed to define the prevalence and correlates of psychotic symptoms (PS) in young children and adolescents with 22q11DS. Forty-three children and adolescents with 22q11DS (mean age = 10.62+/-11.19) participated in this study. The occurrence of PS and their neuropsychological and behavioral correlates were investigated through semi-structured interviews and standardized measures. Psychotic symptoms were reported in 28% of the total sample and 17% of pre-adolescent children, and associated with decreased verbal IQ scores [F(1) = 4.41, p = 0.042]. Compared to young patients without PS, young patients with PS were perceived by their parents as more anxious-depressed [F(1) = 4.76, p = 0.035] and withdrawn [F(1) = 7.63, p = 0.009], with reduced adaptive socialization skills [F(1) = 6.88, p = 0.012]. Results suggest that psychotic manifestations are present earlier than typically reported in youngsters with 22q11DS and are accompanied by reduced verbal IQ performance and decreased adaptative social skills. The symptomatic, neuropsychological and behavioral characteristics observed in the current study may constitute central markers of increased risk for psychosis in 22q11DS.


Assuntos
Deleção Cromossômica , Cromossomos Humanos Par 22/genética , Transtornos Cognitivos/epidemiologia , Transtornos Psicóticos/genética , Esquizofrenia/genética , Adolescente , Adulto , Criança , Transtornos Cognitivos/diagnóstico , Feminino , Alucinações/diagnóstico , Alucinações/epidemiologia , Humanos , Entrevista Psicológica , Masculino , Testes Neuropsicológicos , Prevalência , Transtornos Psicóticos/diagnóstico , Transtornos Psicóticos/epidemiologia , Esquizofrenia/diagnóstico , Esquizofrenia/epidemiologia , Índice de Gravidade de Doença , Comportamento Social , Síndrome , Comportamento Verbal
18.
Psychiatry Res ; 146(1): 1-11, 2006 Jan 30.
Artigo em Inglês | MEDLINE | ID: mdl-16388934

RESUMO

Velo-cardio-facial syndrome (VCFS), also known as 22q11.2 deletion syndrome, is a common genetic condition associated with increased risk for developing schizophrenia. Given that cortical malformations play an integral role in the pattern of neuroanatomical alterations associated with VCFS, the aim of the present study was to quantify and localize gyral abnormalities. Magnetic resonance images were obtained on a 1.5 T scanner. The gyrification index (GI), a measure of the degree of cortical complexity, was differentially calculated for each lobe using a semi-automated protocol. The GI was calculated for 37 patients affected by VCFS as well as for 36 comparison individuals group-matched for age, handedness, and gender. The subjects affected by VCFS showed a significant decrease in the GI in the frontal and parietal lobes compared with the control group. The pattern of decreased gyrification in the frontal and parietal lobes further defines the structural changes associated with the syndrome and suggests underlying abnormalities in neural connectivity. Aberrant connectivity may be partially responsible for the cognitive and behavioral impairments in the syndrome, as well as the high incidence of schizophrenia among affected individuals.


Assuntos
Córtex Cerebral/anormalidades , Córtex Cerebral/fisiopatologia , Deleção Cromossômica , Cromossomos Humanos Par 22/genética , Síndrome de DiGeorge/genética , Síndrome de DiGeorge/fisiopatologia , Imageamento por Ressonância Magnética , Adolescente , Adulto , Feminino , Humanos , Inteligência , Testes de Inteligência , Masculino , Esquizofrenia/genética , Esquizofrenia/fisiopatologia
19.
J Neurodev Disord ; 8: 10, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27018204

RESUMO

BACKGROUND: 22q11.2 deletion syndrome (22q11.2DS) is a genetic disorder associated with a specific cognitive profile. Higher-order cognitive skills like executive functions (EF) are reported as a relative weakness in this population. The present study aimed to delineate the developmental trajectories of multiple EF domains in a longitudinal sample using a broader age range than previous studies. Given the high incidence of psychotic symptoms in 22q11.2DS, we also compared the development of EF in participants with/without comorbid psychotic symptoms. Given the importance of EF in daily life, the third aim of the study was to characterize the link between EF and adaptive functioning. METHODS: The sample consisted of 95 individuals with 22q11.2DS and 100 typically developing controls aged 6-26 years. A large proportion of the sample (55.38 %) had multiple time points available. Between-group differences in the developmental trajectories of three subdomains of EF (verbal fluency, working memory, and inhibition) were examined using mixed models regression analyses. Analyses were repeated comparing only the 22q11.2DS group based on the presence/absence of psychotic symptoms to investigate the influence of executive dysfunction on the emergence of psychotic symptoms. Hierarchical stepwise regression analyses were also conducted to investigate the predictive value of EF on adaptive functioning. RESULTS: We observed lower performance on EF domains, as well as atypical development of working memory and verbal fluency. Participants who presented with negative symptoms exhibited different developmental trajectories of inhibition and working memory. Adaptive functioning level was not significantly predicted by EF scores. CONCLUSIONS: The present study highlighted domain-specific atypical trajectories of EF in individuals with 22q11.DS and explored the link with psychotic symptoms. However, no relation between EF and adaptive functioning was observed.

20.
Front Psychiatry ; 7: 143, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27605914

RESUMO

Recent research has consistently demonstrated reduced orienting to social stimuli in samples of young children with autism spectrum disorders (ASD). However, social orienting greatly varies between individual children on the spectrum. Better understanding this heterogeneity in social orienting may contribute to our comprehension of the mechanisms underlying autistic symptoms thereby improving our ability to intervene. Indeed, children on the autism spectrum who show higher levels of interest in social stimuli demonstrate reduced clinical symptoms and increased adaptive functioning. However, longitudinal studies examining the influence of social orienting on subsequent outcome are critically lacking. Here, we aim to explore the relationship between social interest at the age of 3 and changes in severity of autistic symptoms over the subsequent year, in 20 children with ASD and 20 age-matched typically developing (TD) children. A visual preference for social stimuli was measured using an eye-tracking task at baseline, consisting of a previously studied visual preference paradigm presenting biological and geometric motion side-by-side. The task was altered for the current study by alternating presentation side for each type of stimuli to keep visual perseveration from influencing participants' first fixation location. Clinical data were collected both at baseline and 1 year later at follow-up. As a group, we observed reduced interest for biological motion (BIO-M) in children with ASD compared to TD children, corroborating previous findings. We also confirmed that a preference for BIO-M is associated with better adaptive functioning in preschoolers with ASD. Most importantly, our longitudinal results showed that a preference for BIO-M strongly predicted decreased severity of diagnostic symptoms. Participants who preferred social stimuli at the age of 3 showed drastic reductions in their severity level of autistic symptoms 1 year later, whereas participants who preferred geometric stimuli showed autistic symptoms that were unchanged or more severe after 1 year. As a whole, our results suggest that a preference for BIO-M may be key to understanding the behavioral phenotype of young children with ASD, and may represent a promising candidate behavior for predicting early developmental trajectories and outcome.

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