Academic literature on the topic 'Broad autism phenotype'

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Journal articles on the topic "Broad autism phenotype"

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Micali, N., S. Chakrabarti, and E. Fombonne. "The Broad Autism Phenotype." Autism 8, no. 1 (March 2004): 21–37. http://dx.doi.org/10.1177/1362361304040636.

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Hurley, Robert S. E., Molly Losh, Morgan Parlier, J. Steven Reznick, and Joseph Piven. "The Broad Autism Phenotype Questionnaire." Journal of Autism and Developmental Disorders 37, no. 9 (December 5, 2006): 1679–90. http://dx.doi.org/10.1007/s10803-006-0299-3.

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De Groot, Kristel, and Jan W. Van Strien. "Evidence for a Broad Autism Phenotype." Advances in Neurodevelopmental Disorders 1, no. 3 (May 24, 2017): 129–40. http://dx.doi.org/10.1007/s41252-017-0021-9.

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Losh, Molly, Ralph Adolphs, Michele D. Poe, Shannon Couture, David Penn, Grace T. Baranek, and Joseph Piven. "Neuropsychological Profile of Autism and the Broad Autism Phenotype." Archives of General Psychiatry 66, no. 5 (May 1, 2009): 518. http://dx.doi.org/10.1001/archgenpsychiatry.2009.34.

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Losh, Molly, and Joseph Piven. "Social-cognition and the broad autism phenotype: identifying genetically meaningful phenotypes." Journal of Child Psychology and Psychiatry 48, no. 1 (January 2007): 105–12. http://dx.doi.org/10.1111/j.1469-7610.2006.01594.x.

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Pruitt, Megan M., Madeline Rhoden, and Naomi V. Ekas. "Relationship between the broad autism phenotype, social relationships and mental health for mothers of children with autism spectrum disorder." Autism 22, no. 2 (November 10, 2016): 171–80. http://dx.doi.org/10.1177/1362361316669621.

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This study aimed to examine the mechanisms responsible for the association between the broad autism phenotype and depressive symptoms in mothers of a child with autism spectrum disorder. A total of 98 mothers who had a child with autism spectrum disorder between the ages of 2 and 16 years completed assessments of maternal broad autism phenotype, child behavior problems, romantic relationship satisfaction, friend support, family support, and maternal depressive symptoms. Results indicated that only romantic relationship satisfaction was a significant mediator of the relationship between maternal broad autism phenotype social abnormalities and maternal depressive symptoms, where greater broad autism phenotype social abnormalities were associated with lower relationship satisfaction, which in turn was associated with increased depressive symptoms. Child behavior problems were directly related to increased depressive symptoms. Implications regarding maternal mental health outcomes within this population as well as intervention implications are discussed.
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Wallace, Gregory L., Jessica Budgett, and Rebecca A. Charlton. "Aging and autism spectrum disorder: Evidence from the broad autism phenotype." Autism Research 9, no. 12 (March 11, 2016): 1294–303. http://dx.doi.org/10.1002/aur.1620.

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Meera, Shoba S., Ravi G. Shankar, Satish C. Girimaji, Shekhar P. Seshadri, Mariamma Philip, and Nagarajarao Shivashankar. "Pragmatics of language in the broad autism phenotype." Speech, Language and Hearing 18, no. 3 (March 11, 2015): 156–60. http://dx.doi.org/10.1179/2050572815y.0000000004.

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Sugihara, Genichi, Kenji J. Tsuchiya, and Nori Takei. "Distinguishing Broad Autism Phenotype from Schizophrenia-Spectrum Disorders." Journal of Autism and Developmental Disorders 38, no. 10 (August 26, 2008): 1998–99. http://dx.doi.org/10.1007/s10803-008-0638-7.

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Barrionuevo, Bianca A., Aneesa R. Chowdhury, Joycelyn M. Lee, Nicole D. Dueker, Eden R. Martin, Margaret A. Pericak‐Vance, and Michael Cuccaro. "Family History of Eating Disorder and the Broad Autism Phenotype in Autism." Autism Research 13, no. 9 (September 2020): 1573–81. http://dx.doi.org/10.1002/aur.2378.

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Dissertations / Theses on the topic "Broad autism phenotype"

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Maddox, Brenna Burns. "The Broad Autism Phenotype in the General Population: Evidence Through Eye-Tracking." Thesis, Virginia Tech, 2012. http://hdl.handle.net/10919/76960.

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The broad autism phenotype (BAP) has been defined both behaviorally and biologically. There has been little research on the association of the BAP, behaviorally defined, with neural or cognitive biomarkers typically associated with Autism Spectrum Disorder (ASD). People diagnosed with ASD tend to show reduced gaze fixation toward the eye region, but much less eye-tracking research has been done related to the BAP (Boraston & Blakemore, 2007). In this study, we sought to assess eye gaze patterns in people with the behaviorally defined BAP, as defined by a score of 30 or above on the Autism Spectrum Quotient (AQ; Baron-Cohen et al., 2001). It was hypothesized that the BAP group participants would exhibit longer average fixation duration to the eye region during an emotion recognition condition, relative to a free-viewing condition, whereas the comparison group participants (defined as an AQ score of 24 and below) would not show a difference in fixation duration to the eye region between conditions. Nine hundred and thirty-nine undergraduates completed an online survey, and 45 of these students (15 BAP group and 30 comparison group) participated in the eye-tracking session, where they viewed a series of human faces, each presented twice within a condition. Results revealed a significant negative relationship between social anxiety and eye region fixation duration in the free-viewing condition, for both presentations of faces. Contrary to expectation, BAP predicted longer eye region fixation duration in the free-viewing condition, for the second presentation of faces. Possible explanations for these surprising findings are discussed.
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Feldman, Benjamin H. "Face Processing in the Broad Autism Phenotype: Exploring Face Processing as an Endophenotype of Autism Spectrum Disorder." Case Western Reserve University School of Graduate Studies / OhioLINK, 2015. http://rave.ohiolink.edu/etdc/view?acc_num=case1427815061.

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Clark, Jonathan Darrell. "FUNCTIONAL CONNECTIVITY FOR CONFIGURAL AND FEATURAL FACE PROCESSING IN THE BROAD AUTISM PHENOTYPE." UKnowledge, 2011. http://uknowledge.uky.edu/gradschool_diss/174.

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During normal development, face processing involves a gradual shift from a featurally oriented style to a mature configural style by adolescence. This shift may coincide with increased right hemispheric dominance for faces supporting configural processing. Previous studies suggest that individuals diagnosed with ASD continue to process faces using individual parts and features into adulthood. This continued bias may be due to deficits in configural processing abilities. The current study investigated measures of functional connectivity during featural and configural processing of faces in broad autism phenotype sibling (ASD-sibs) children compared to age, sex, and handedness matched normal developing (ND) controls and in children diagnosed with an Autism Spectrum Disorder compared to ASD-matched ND controls. Results indicate that children with ASD and ASD-sibs were capable of performing configural processing tasks at similar performance levels to those of ND children. Additionally, patterns of functional network connectivity for configural processing in ASD-sibs were similar to those observed in ND controls. Few network-wide hemispheric differences emerged between groups. While behavioral performance and overall network-wide patterns of connectivity suggest a face processing network that is capable of supporting configural processing in ASD and ASD-sibs, abnormalities were observed in specific regions. The amygdala and fusiform face area showed fewer interactions with the rest of the face processing network in ASD children compared to ND during configural, but not featural processing. Additionally, hemispheric comparisons show greater differences between ASD and ND controls in the right fusiform face area. The ability of these regions to communicate with other regions in the face network could be important for social motivation and attention during configural processing. Interestingly, network connectivity in ASD children during passive viewing of faces, objects, and textures without featural or configural manipulations showed a more functionally integrated, and less segregated network with a lower “wiring cost” during non-face conditions compared to ND children. ASD-sibs may demonstrate a similar milder pattern.
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Cassel, Tricia D. "Examination of the Communicative Deficits Associated with the Broad Phenotype of Autism in Infant Siblings of Children with Autism Spectrum Disorders." Scholarly Repository, 2008. http://scholarlyrepository.miami.edu/oa_dissertations/129.

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Infants with older siblings on the autism spectrum (ASD-sibs) are at risk for socio-emotional difficulties. ASD-sibs were compared to children of typically developing siblings (TD-sibs) in the Face-to-Face/Still-Face (FFSF) at 6 months and the Early Social Communication Scales (ESCS) at 8, 10, 12, 15, and 18 months. ASD-sibs exhibited non-significant trends to smile less and display more neutral affect than TD-sibs during the FFSF. There was a significant status by gender interaction such that male ASD-sibs showed less smiling and lower affective valence compared to male TD-sibs. Additionally, ASD-sibs showed a lack of emotional continuity in the FFSF. ASD-sibs displayed less initiating joint attention, initiating behavioral requesting, and responding to joint attention over time than TD-sibs. Results are discussed with respect to the social orienting model of autism.
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Wong, Dana. "Theory of mind and executive function impairments in autism spectrum disorders and their broader phenotype : profile, primacy and independence." University of Western Australia. School of Psychology, 2004. http://theses.library.uwa.edu.au/adt-WU2004.0066.

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Impairments in both theory of mind (ToM; the ability to attribute mental states to oneself and others) and executive function (EF; a group of high-level cognitive functions which help guide and control goal-directed behaviour) have been demonstrated in individuals with autism spectrum disorders (ASDs). Both deficits have been proposed by different groups of researchers as being the single primary cognitive deficit of autism, which can subsume the other deficit as secondary or artefactual. However, few studies have examined the nature of the relationship between ToM and EF in ASDs or conducted a systematic investigation of their relative primacy. This research principally sought to establish the primacy and independence of impairments in ToM and EF in ASDs and thereby evaluate the validity of single versus multiple primary deficit models of autism. These aims were addressed in two studies, both broad in scope. The first study was an investigation of the profile, primacy, and independence of ToM and EF impairments in individuals with ASDs. The sample included 46 participants with ASDs and 48 control participants matched on age and non-verbal ability. The profile of impairments was examined by measuring ToM and a range of EF components using tasks employing, wherever possible, process-pure indices of performance. Primacy was measured by focussing on i) whether or not the deficits observed were universal among individuals with ASDs; ii) whether the deficits were able to discriminate individuals with ASDs from matched controls (i.e., predict group membership); and iii) the ability of ToM and EF deficits to explain the full range of autistic symptomatology, as measured by correlating cognitive performances with behavioural indices. The relationship between ToM and EF impairments was investigated by conducting correlations between ToM and EF variables as well as analysing the incidence of dissociations between impairments in the two domains. The ASD group was found to demonstrate significant impairments in ToM and several components of EF including planning, verbal inhibition, working memory (in a context where inhibitory control was required), and both verbal and non-verbal generativity. However, neither ToM nor EF impairments were able to meet all of the criteria for a primary deficit in ASDs. EF deficits were found to be more primary, but could not account for ToM as a secondary deficit, as ToM and EF were found to be independent (i.e., uncorrelated and dissociable) deficits in the ASD group. This pattern of results suggested that a multiple deficits model involving at least two independent impairments appeared to best characterise ASDs, but the data were compatible with several variants of such a model (e.g., involving distinct subtypes versus a multidimensional spectrum). The second study was an investigation of ToM and EF impairments in siblings of individuals with ASDs, who have previously been found to demonstrate a subclinical “broad autism phenotype”. The main aims of this study were i) to identify whether ToM or EF deficits could meet criteria for an “endophenotype” or vulnerability marker for the autism genotype in unaffected relatives, which would have further implications about the primacy of ToM and EF in ASDs; and ii) to further investigate the validity of various multiple deficits models of ASDs by examining the pattern of ToM and EF performance in those showing the broad phenotype. Participants were 108 siblings of individuals with ASDs and 67 siblings of controls, tested on the same ToM and EF tasks used in the first study. Confirming the superior primacy of EF deficits found in Study One, there was no significant difference in ToM performance between ASD and control siblings, but ASD siblings showed weaknesses on two measures of EF. Furthermore, there appeared to be different subgroups of siblings demonstrating different cognitive profiles, consistent with the heterogeneity evident in the first study. This research indicated that ASDs cannot be explained by a single primary cognitive deficit. These findings hold important theoretical and empirical implications and highlight further questions about which type of multiple deficits model might best explain ASDs.
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Martinho, Maurício Möller. "Avaliação da apresentação fenotípica comportamental do autismo em uma amostra de famílias de crianças autistas em Porto Alegre e região metropolitana." reponame:Biblioteca Digital de Teses e Dissertações da UFRGS, 2004. http://hdl.handle.net/10183/3443.

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O autismo apresenta uma alta herdabilidade e uma etiologia heterogênea, com o provável envolvimento de vários genes. Estudos recentes sugerem que características presentes nos pais de crianças com autismo apresentam paralelo com as apresentações de traços associados nos filhos. Este estudo avaliou 15 famílias de autistas, de Porto Alegre e região metropolitana, e controles. Foram utilizados quatro instrumentos de avaliação no estudo: dois avaliando as características nos filhos (ADI-R e Protocolo de Bosa) e dois aplicados aos pais (ITC e EDS). Os resultados deste estudo apontaram para a confirmação da agregação familiar de características fenotípicas herdadas independentemente. Apesar de diferirem dos resultados dos controles (pais de crianças com desenvolvimento típico), não comprovou-se a existência de uma diferença significativa na severidade de apresentações fenotípicas em pais de crianças autistas. Foi possível estabelecer a presença de uma configuração de características fenotípicas ligadas a aspectos do autismo em pais e crianças com autismo. Esta pesquisa aponta pistas para a existência de um padrão de herança dentro das famílias autistas.
The autism is a neuropsychiatric disturbance characterized by a retard pattern and by deficits in the development of the social abilities, of communication and by a restricted repertory of activities and interests. The beginning of this disturbance occurs at the first years of life. The autism presents a high inheritability and a heterogeneous etiology, with the probable involvement of several genes. Recent studies suggest that present characteristics in the parents of children with autism present parallel with the presentations of associated features in the children. This study evaluated 15 families of autists, from Porto Alegre and metropolitan region and controls. Four evaluation instruments was utilized in the study: two of them evaluating the characteristics in the children (ADI-R and Bosa's Protocol) and two of them applied to the parents (TCI and SAD). The results of this study pointed to the confirmation of the familiar aggregation of independently inherited phenotypical characteristics. Albeit they differ from the controls results (parents of children with typical development), it was not possible to prove the existence of a significative difference in the severity of phenotypical presentations in parents of autistic children. It was possible to establish a presence of a configuration of phenotypical characteristics connected to autism aspects in parents and children with autism. This research indicates clues for the existence of a inheritance pattern within the autistic families.
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Mendes, Silvia Carolina Teixeira. "Caracterização de aspectos da fala e da linguagem oral em pais de autistas." Faculdade de Medicina de São José do Rio Preto, 2008. http://bdtd.famerp.br/handle/tede/86.

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Autism is a neuropsychiatric disorder that develops during early childhood and is part of a group of psychiatric conditions denominated Pervasive Developmental Disorders (PDD). Diagnosis is clinical, mainly based on the presence of social interaction disorders, restricted interests, stereotyped behavior and communication disorders. Communication is an important aspect of the disease as it is invariably present in autism. Psychiatric alterations of speech and language are commoner in autistic families, thus suggesting a broad phenotype and possible genetic anticipation in autism. This study aimed at analyzing the oral language and the speech of parents of autistic and control individuals and to correlate the results to a possible broad phenotype and genetic anticipation in autism. Eighteen couples, mothers and fathers, of autistic patients were investigated. A control group was composed of nine men and nine women, paired by age and education. The participants were submitted to a clinical evaluation of speech and language and to the Test of Language Competence (TLC-E). The results showed a poorer performance by the parents of autistic patients when compared to the controls in respect to language but not to speech. The presence of alterations in oral language in couples with autistic children supports the hypothesis of a broad phenotype of this disease and of the existence of genetic anticipation in autism.
O autismo é um transtorno neuropsiquiátrico que se desenvolve na infância precoce e é parte de um grupo de condições psiquiátricas denominado Transtornos Invasivos do Desenvolvimento TID (Pervasive Developmental Disorders PDD). O diagnóstico é clínico e baseado principalmente na presença de distúrbios de interação social, interesses restritos, padrões estereotipados do comportamento e distúrbios de comunicação. A comunicação é um aspecto importante da doença por estar invariavelmente alterada no autista. Alterações psiquiátricas, de fala e linguagem são mais freqüentes em familiares de autistas, o que sugere o fenótipo broad e possível antecipação genética no autismo. Este estudo teve como objetivos analisar a linguagem oral e a fala em pais de autistas e em controles, e de relacionar os resultados obtidos à possibilidade do fenótipo broad e de antecipação genética em autismo. Foram investigados 18 casais, mães pais de autistas (Grupo I). O grupo controle foi composto de nove homens e nove mulheres, pareados por sexo, idade e escolaridade. Os grupos foram submetidos a avaliação clínica da fala e da linguagem e ao teste de competência de linguagem (TLC-E). Os resultados mostraram um pior desempenho dos pais de autistas em relação a seus controles quanto a aspectos da linguagem e não da fala. A presença de alterações de linguagem oral em casais com filho autista reforçam a hipótese do fenótipo broad desta doença e da existência de antecipação genética em autismo.
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Books on the topic "Broad autism phenotype"

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Broad Autism Phenotype. Emerald Publishing Limited, 2015.

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Rotatori, Anthony F., and Julie A. Deisinger. Broad Autism Phenotype. Emerald Publishing Limited, 2015.

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Deisinger, Julie A. The Broad Autism Phenotype. Edited by Anthony F. Rotatori. Emerald Group Publishing Limited, 2015. http://dx.doi.org/10.1108/s0270-4013201529.

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South, Mikle, John D. Herrington, and Sarah J. Paterson. Neuroimaging in Autism Spectrum Disorders. Oxford University Press, 2013. http://dx.doi.org/10.1093/med/9780199744312.003.0003.

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This chapter reviews several major themes in the neuroimaging of ASDs to date (see summary of representative themes in Table 3.1), including substantial and essential contributions from the modular framework. The chapter begins, however, with a discussion of several challenges related to the diversity of ASDs in terms of factors such as age, level of functioning, and symptom presentation. Progress in the ability to identify more homogenous subgroups, based on targeted phenotypic measures, opens the door to link neuroimaging with genetics findings and also with treatment outcome data. This should lead to better understanding of both the causes of ASDs and the best approaches to intervention. The chapter is divided according to two broad, related themes related to social information processing and cognitive factors in ASDs. Within these themes, the chapter considers evidence from both structural and functional imaging studies as well as relatively newer approaches to connectivity, including diffusion tensor imaging. The primary focus of this chapter is on research utilizing functional magnetic resonance imaging (fMRI) and electroencephalography (EEG). Although several early neuroimaging studies utilized positron emission tomography scanning, these studies are rare now and are not addressed in depth. New techniques such as near-infrared spectroscopy suggest tremendous promise for noninvasive imaging of expanded age groups and severity levels of ASDs; however, these studies are also few in number and are touched on only briefly.
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Book chapters on the topic "Broad autism phenotype"

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Losh, Molly, Ralph Adolphs, and Joseph Piven. "The Broad Autism Phenotype." In Autism Spectrum Disorders, 457–76. Oxford University Press, 2011. http://dx.doi.org/10.1093/med/9780195371826.003.0031.

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"Recognition of the Broad Autism Phenotype." In Advances in Special Education, 1–8. Emerald Group Publishing Limited, 2015. http://dx.doi.org/10.1108/s0270-401320150000029001.

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"Genetic Aspects of the Broad Autism Phenotype." In Advances in Special Education, 37–63. Emerald Group Publishing Limited, 2015. http://dx.doi.org/10.1108/s0270-401320150000029011.

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"Cognitive Functioning in the Broad Autism Phenotype." In Advances in Special Education, 83–129. Emerald Group Publishing Limited, 2015. http://dx.doi.org/10.1108/s0270-401320150000029013.

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"Identification and Assessment of the Broad Autism Phenotype." In Advances in Special Education, 9–35. Emerald Group Publishing Limited, 2015. http://dx.doi.org/10.1108/s0270-401320150000029010.

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"Other Biological Aspects of the Broad Autism Phenotype." In Advances in Special Education, 65–82. Emerald Group Publishing Limited, 2015. http://dx.doi.org/10.1108/s0270-401320150000029012.

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Dierssen, Mara, and Salvador Martínez. "Neuropathology and Synaptic Alterations in Neurodevelopmental Disorders." In Neurobiology of Mental Illness, edited by Joseph D. Buxbaum, 980–94. Oxford University Press, 2013. http://dx.doi.org/10.1093/med/9780199934959.003.0074.

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Neurodevelopmental disorders include a myriad of conditions, in which symptomatic presentation and disease onset is identifiable in early postnatal years, prior to full brain maturation. Both genetic and environmental insults can lead to neurodevelopmental disorders, which result from anatomical and physiological abnormalities during the development and maturation of brain circuits. Mental disorders become symptomatic in childhood or adolescence and are affected by early environmental conditions that may interact with genetic risk factors. Neurodevelopmental disorders share a number of similarities in terms of common genetic risks, co-occurrence of neurodevelopmental symptom domains, cognitive processing deficits, early onset and chronic course. Schizophrenia, autism and intellectual disabilities, for example, are spectrums of diseases with broad sets of causes that have overlapping phenotypes and genetics, which is suggestive of common deficits.
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