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1.
Hippocampus ; 33(11): 1171-1188, 2023 11.
Artigo em Inglês | MEDLINE | ID: mdl-37706613

RESUMO

Spatial reconstruction, a method for evaluating how individuals remember the placement of objects, has traditionally been evaluated through the aggregate estimation of placement errors. However, this approach may obscure the nature of task errors. Specifically, recent data has suggested the importance of examining the precision of responses, as well as absolute performance on item-context bindings. In contrast to traditional analysis approaches based on the distance between the target and the reconstructed item, in this study we further explored three types of errors (swap error, global error, and local distance) that may all contribute to the distance, with particular emphasis on swap errors and local distance due to their associations with item-context bindings and memory precision, respectively. We examined these errors in children aged 3-18 years, making comparisons between children with typical development (TD) and children with Down syndrome (DS), a population with known memory challenges. As expected, older children outperformed younger children in terms of overall memory accuracy. Of importance is that we measured uneven maturational trajectories of memory abilities across the various error types. Specifically, both remembered locations (irrespective of object identity) and swap errors (object-location binding errors) align with the overall memory accuracy. Memory precision, as measured by local distance in simpler set size 2 trials, mirrored overall memory accuracy. However, for more complex set size 3 trials, local distance remained stable before age 8 and showed age-related change thereafter. The group with DS showed reduced precision compared to a TD matched group, and measures of precision, and to a lesser extent binding errors, correlated with standard neuropsychological outcomes. Overall, our study contributed to a fine-grained understanding of developing spatial memory ability in a large sample of typical developing children and a memory impaired population. These findings contribute to a growing body of research examining precision as a key factor in memory performance.


Assuntos
Rememoração Mental , Memória Espacial , Criança , Humanos , Adolescente , Memória Espacial/fisiologia , Rememoração Mental/fisiologia , Cognição , Testes Neuropsicológicos , Memória de Curto Prazo/fisiologia
2.
J Neurosci ; 39(16): 3028-3040, 2019 04 17.
Artigo em Inglês | MEDLINE | ID: mdl-30833512

RESUMO

The genetics of cortical arealization in youth is not well understood. In this study, we use a genetically informative sample of 677 typically developing children and adolescents (mean age 12.72 years), high-resolution MRI, and quantitative genetic methodology to address several fundamental questions on the genetics of cerebral surface area. We estimate that >85% of the phenotypic variance in total brain surface area in youth is attributable to additive genetic factors. We also observed pronounced regional variability in the genetic influences on surface area, with the most heritable areas seen in primary visual and visual association cortex. A shared global genetic factor strongly influenced large areas of the frontal and temporal cortex, mirroring regions that are the most evolutionarily novel in humans relative to other primates. In contrast to studies on older populations, we observed statistically significant genetic correlations between measures of surface area and cortical thickness (rG = 0.63), suggestive of overlapping genetic influences between these endophenotypes early in life. Finally, we identified strong and highly asymmetric genetically mediated associations between Full-Scale Intelligence Quotient and left perisylvian surface area, particularly receptive language centers. Our findings suggest that spatially complex and temporally dynamic genetic factors are influencing cerebral surface area in our species.SIGNIFICANCE STATEMENT Over evolution, the human cortex has undergone massive expansion. In humans, patterns of neurodevelopmental expansion mirror evolutionary changes. However, there is a sparsity of information on how genetics impacts surface area maturation. Here, we present a systematic analysis of the genetics of cerebral surface area in youth. We confirm prior research that implicates genetics as the dominant force influencing individual differences in global surface area. We also find evidence that evolutionarily novel brain regions share common genetics, that overlapping genetic factors influence both area and thickness in youth, and the presence of strong genetically mediated associations between intelligence and surface area in language centers. These findings further elucidate the complex role that genetics plays in brain development and function.


Assuntos
Córtex Cerebral/diagnóstico por imagem , Lateralidade Funcional/genética , Inteligência/genética , Adolescente , Mapeamento Encefálico , Criança , Feminino , Testes Genéticos , Humanos , Imageamento por Ressonância Magnética , Masculino , Tamanho do Órgão/genética , Gêmeos/genética
3.
Cereb Cortex ; 29(11): 4743-4752, 2019 12 17.
Artigo em Inglês | MEDLINE | ID: mdl-30715232

RESUMO

The neural substrates of intelligence represent a fundamental but largely uncharted topic in human developmental neuroscience. Prior neuroimaging studies have identified modest but highly dynamic associations between intelligence and cortical thickness (CT) in childhood and adolescence. In a separate thread of research, quantitative genetic studies have repeatedly demonstrated that most measures of intelligence are highly heritable, as are many brain regions associated with intelligence. In the current study, we integrate these 2 streams of prior work by examining the genetic contributions to CT-intelligence relationships using a genetically informative longitudinal sample of 813 typically developing youth, imaged with high-resolution MRI and assessed with Wechsler Intelligence Scales (IQ). In addition to replicating the phenotypic association between multimodal association cortex and language centers with IQ, we find that CT-IQ covariance is nearly entirely genetically mediated. Moreover, shared genetic factors drive the rapidly evolving landscape of CT-IQ relationships in the developing brain.


Assuntos
Córtex Cerebral/anatomia & histologia , Córtex Cerebral/fisiologia , Inteligência/genética , Adolescente , Córtex Cerebral/crescimento & desenvolvimento , Criança , Conectoma , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Fenótipo , Escalas de Wechsler , Adulto Jovem
4.
J Int Neuropsychol Soc ; 24(9): 966-976, 2018 10.
Artigo em Inglês | MEDLINE | ID: mdl-29789029

RESUMO

OBJECTIVES: As surprisingly little is known about the developing brain studied in vivo in youth with Down syndrome (DS), the current review summarizes the small DS pediatric structural neuroimaging literature and begins to contextualize existing research within a developmental framework. METHODS: A systematic review of the literature was completed, effect sizes from published studies were reviewed, and results are presented with respect to the DS cognitive behavioral phenotype and typical brain development. RESULTS: The majority of DS structural neuroimaging studies describe gross differences in brain morphometry and do not use advanced neuroimaging methods to provide nuanced descriptions of the brain. There is evidence for smaller total brain volume (TBV), total gray matter (GM) and white matter, cortical lobar, hippocampal, and cerebellar volumes. When reductions in TBV are accounted for, specific reductions are noted in subregions of the frontal lobe, temporal lobe, cerebellum, and hippocampus. A review of cortical lobar effect sizes reveals mostly large effect sizes from early childhood through adolescence. However, deviance is smaller in adolescence. Despite these smaller effects, frontal GM continues to be largely deviant in adolescence. An examination of age-frontal GM relations using effect sizes from published studies and data from Lee et al. (2016) reveals that while there is a strong inverse relationship between age and frontal GM volume in controls across childhood and adolescence, this is not observed in DS. CONCLUSIONS: Further developmentally focused research, ideally using longitudinal neuroimaging, is needed to elucidate the nature of the DS neuroanatomic phenotype during childhood and adolescence. (JINS, 2018, 24, 966-976).


Assuntos
Encéfalo/diagnóstico por imagem , Encéfalo/crescimento & desenvolvimento , Síndrome de Down/diagnóstico por imagem , Adolescente , Criança , Pré-Escolar , Humanos , Lactente , Recém-Nascido
5.
J Int Neuropsychol Soc ; 24(9): 917-927, 2018 10.
Artigo em Inglês | MEDLINE | ID: mdl-30375320

RESUMO

OBJECTIVES: Past research suggests that youth with sex chromosome aneuploidies (SCAs) present with verbal fluency deficits. However, most studies have focused on sex chromosome trisomies. Far less is known about sex chromosome tetrasomies and pentasomies. Thus, the current research sought to characterize verbal fluency performance among youth with sex chromosome trisomies, tetrasomies, and pentasomies by contrasting how performance varies as a function of extra X number and X versus Y status. METHODS: Participants included 79 youth with SCAs and 42 typically developing controls matched on age, maternal education, and racial/ethnic background. Participants completed the phonemic and semantic conditions of a verbal fluency task and an abbreviated intelligence test. RESULTS: Both supernumerary X and Y chromosomes were associated with verbal fluency deficits relative to controls. These impairments increased as a function of the number of extra X chromosomes, and the pattern of impairments on phonemic and semantic fluency differed for those with a supernumerary X versus Y chromosome. Whereas one supernumerary Y chromosome was associated with similar performance across fluency conditions, one supernumerary X chromosome was associated with relatively stronger semantic than phonemic fluency skills. CONCLUSIONS: Verbal fluency skills in youth with supernumerary X and Y chromosomes are impaired relative to controls. However, the degree of impairment varies across groups and task condition. Further research into the cognitive underpinnings of verbal fluency in youth with SCAs may provide insights into their verbal fluency deficits and help guide future treatments. (JINS, 2018, 24, 917-927).


Assuntos
Aneuploidia , Cromossomos Humanos X/genética , Cromossomos Humanos Y/genética , Aberrações dos Cromossomos Sexuais , Comportamento Verbal , Adolescente , Criança , Feminino , Humanos , Testes de Inteligência , Transtornos da Linguagem , Masculino , Testes Neuropsicológicos , Desempenho Psicomotor , Semântica , Adulto Jovem
6.
Curr Neurol Neurosci Rep ; 18(12): 94, 2018 10 17.
Artigo em Inglês | MEDLINE | ID: mdl-30328520

RESUMO

PURPOSE OF REVIEW: In this review, we summarize current knowledge and hypotheses on the nature of social abnormalities in autism spectrum disorder (ASD) and Williams syndrome (WS). RECENT FINDINGS: Social phenotypes in ASD and WS appear to reflect analogous disruptions in social cognition, and distinct patterns of social motivation, which appears to be reduced in ASD and enhanced in WS. These abnormalities likely originate from heterogeneous vulnerabilities that disrupt the interplay between domain-general and social domain-specific cognitive and motivational processes during early development. Causal pathways remain unclear. Advances and research gaps in our understanding of the social phenotypes in ASD and WS highlight the importance of (1) parsing the construct of sociability, (2) adopting a developmental perspective, (3) including samples that are representative of the spectrum of severity within ASD and WS in neuroscientific research, and (4) adopting transdiagnostic treatment approaches to target shared areas of impairment across diagnostic boundaries.


Assuntos
Transtorno do Espectro Autista/psicologia , Transtornos do Neurodesenvolvimento/psicologia , Comportamento Social , Síndrome de Williams/psicologia , Humanos
7.
Neurocase ; 24(5-6): 250-254, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30714851

RESUMO

Mosaic trisomy 14 is associated with impaired intellectual functioning, although no study has examined the cognitive-behavioral profile associated with the syndrome. This study provides the first case description of the cognitive-behavioral phenotype associated with mosaic trisomy 14 by contrasting the performance an adolescent female (T14) with a group of females with Down syndrome (DS; n=9). T14 performed below age expectations on most direct assessments and demonstrated weaknesses relative to the DS group on aspects of language, adaptive functioning, and executive functioning. T14 also demonstrated strengths in delayed visual recall and social skills relative to the DS group.


Assuntos
Função Executiva/fisiologia , Deficiência Intelectual/fisiopatologia , Idioma , Rememoração Mental/fisiologia , Habilidades Sociais , Trissomia/fisiopatologia , Criança , Cromossomos Humanos Par 14 , Síndrome de Down/fisiopatologia , Feminino , Humanos , Mosaicismo , Fenótipo
8.
Cereb Cortex ; 26(1): 70-9, 2016 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-25146371

RESUMO

Owing to their unique evolutionary history, modern mammalian X- and Y-chromosomes have highly divergent gene contents counterbalanced by regulatory features, which preferentially restrict expression of X- and Y-specific genes. These 2 characteristics make opposing predictions regarding the expected dissimilarity of X- vs. Y-chromosome influences on biological structure and function. Here, we quantify this dissimilarity using in vivo neuroimaging within a rare cohort of humans with diverse sex chromosome aneuploidies (SCAs). We show that X- and Y-chromosomes have opposing effects on overall brain size but exert highly convergent influences on local brain anatomy, which manifest across biologically distinct dimensions of the cerebral cortex. Large-scale online meta-analysis of functional neuroimaging data indicates that convergent sex chromosome dosage effects preferentially impact centers for social perception, communication, and decision-making. Thus, despite an almost complete lack of sequence homology, and opposing effects on overall brain size, X- and Y-chromosomes exert congruent effects on the proportional size of cortical systems involved in adaptive social functioning. These convergent X-Y effects (i) track the dosage of those few genes that are still shared by X- and Y-chromosomes, and (ii) may provide a biological substrate for the link between SCA and increased rates of psychopathology.


Assuntos
Encéfalo/anatomia & histologia , Cromossomos Humanos X , Cromossomos Humanos Y , Adolescente , Adulto , Aneuploidia , Criança , Evolução Molecular , Feminino , Humanos , Masculino , Adulto Jovem
9.
Cereb Cortex ; 26(7): 2982-90, 2016 07.
Artigo em Inglês | MEDLINE | ID: mdl-26088974

RESUMO

Detailed descriptions of cortical anatomy in youth with Down syndrome (DS), the most common genetic cause of intellectual disability (ID), are scant. Thus, the current study examined deviations in cortical thickness (CT) and surface area (SA), at high spatial resolution, in youth with DS, to identify focal differences relative to typically developing (TD) youth. Participants included 31 youth with DS and 45 age- and sex-matched TD controls (mean age ∼16 years; range = 5-24 years). All participants completed T1-weighted ASSET-calibrated magnetization prepared rapid gradient echo scans on a 3-T magnetic resonance imaging scanner. Replicating prior investigations, cortical volume was reduced in DS compared with controls. However, a novel dissociation for SA and CT was found-namely, SA was reduced (predominantly in frontal and temporal regions) while CT was increased (notably in several regions thought to belong to the default mode network; DMN). These findings suggest that reductions in SA rather than CT are driving the cortical volume reductions reported in prior investigations of DS. Moreover, given the link between DMN functionality and Alzheimer's symptomatology in chromosomally typical populations, future DS studies may benefit from focusing on the cortex in DMN regions, as such investigations may provide clues to the precocious onset of Alzheimer's disease in this at-risk group.


Assuntos
Córtex Cerebral/diagnóstico por imagem , Síndrome de Down/diagnóstico por imagem , Adolescente , Doença de Alzheimer/diagnóstico por imagem , Análise de Variância , Córtex Cerebral/crescimento & desenvolvimento , Criança , Pré-Escolar , Feminino , Humanos , Inteligência , Testes de Inteligência , Imageamento por Ressonância Magnética , Masculino , Tamanho do Órgão , Adulto Jovem
10.
J Neurosci ; 35(1): 140-5, 2015 Jan 07.
Artigo em Inglês | MEDLINE | ID: mdl-25568109

RESUMO

The human brain displays stereotyped and early emerging patterns of cortical asymmetry in health. It is unclear if these asymmetries are highly sensitive to genetic and environmental variation or fundamental features of the brain that can survive severe developmental perturbations. To address this question, we mapped cortical thickness (CT) asymmetry in a group of genetically defined disorders known to impact CT development. Participants included 137 youth with one of five sex-chromosome aneuploidies [SCAs; XXX (n = 28), XXY (n = 58), XYY (n = 26), XXYY (n = 20), and XXXXY (n = 5)], and 169 age-matched typically developing controls (80 female). In controls, we replicated previously reported rightward inferior frontal and leftward lateral parietal CT asymmetry. These opposing frontoparietal CT asymmetries were broadly preserved in all five SCA groups. However, we also detected foci of shifting CT asymmetry with aneuploidy, which fell almost exclusively within regions of significant CT asymmetry in controls. Specifically, X-chromosome aneuploidy accentuated normative rightward inferior frontal asymmetries, while Y-chromosome aneuploidy reversed normative rightward medial prefrontal and lateral temporal asymmetries. These findings indicate that (1) the stereotyped normative pattern of opposing frontoparietal CT asymmetry arises from developmental mechanisms that can withstand gross chromosomal aneuploidy and (2) X and Y chromosomes can exert focal, nonoverlapping and directionally opposed influences on CT asymmetry within cortical regions of significant asymmetry in health. Our study attests to the resilience of developmental mechanisms that support the global patterning of CT asymmetry in humans, and motivates future research into the molecular bases and functional consequences of sex chromosome dosage effects on CT asymmetry.


Assuntos
Aneuploidia , Mapeamento Encefálico/métodos , Encéfalo/anormalidades , Encéfalo/fisiologia , Cromossomos Sexuais/genética , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Humanos , Estudos Longitudinais , Masculino , Adulto Jovem
11.
Am J Med Genet A ; 167A(5): 1107-10, 2015 May.
Artigo em Inglês | MEDLINE | ID: mdl-25820455

RESUMO

Down syndrome, the most common genetic cause of intellectual disability, offers the opportunity to explore the associations between genetics and both neuroanatomic and neuropsychological phenotypes. This case report summarizes the findings of a neuroimaging and neuropsychology study of two adolescent females with Down syndrome and their same-sex discordant triplet siblings (one from each family; n = 4). Using high-resolution magnetic resonance imaging and surface based morphometric approaches, we offer the first in vivo report of cortical surface area reductions and increases in the thickness of the cortical sheet in youth with Down syndrome relative to their typically developing same-sex triplet siblings.


Assuntos
Córtex Cerebral/diagnóstico por imagem , Síndrome de Down/diagnóstico por imagem , Síndrome de Down/genética , Imageamento por Ressonância Magnética , Adolescente , Adulto , Mapeamento Encefálico , Córtex Cerebral/fisiopatologia , Síndrome de Down/fisiopatologia , Feminino , Humanos , Radiografia , Irmãos
12.
Proc Natl Acad Sci U S A ; 109(28): 11366-71, 2012 Jul 10.
Artigo em Inglês | MEDLINE | ID: mdl-22689983

RESUMO

Prenatal life encompasses a critical phase of human brain development, but neurodevelopmental consequences of normative differences in prenatal growth among full-term pregnancies remain largely uncharted. Here, we combine the power of a within-monozygotic twin study design with longitudinal neuroimaging methods that parse dissociable components of structural brain development between ages 3 and 30 y, to show that subtle variations of the in utero environment, as indexed by mild birth weight (BW) variation within monozygotic pairs, are accompanied by statistically significant (i) differences in postnatal intelligence quotient (IQ) and (ii) alterations of brain anatomy that persist at least into late adolescence. Greater BW within the normal range confers a sustained and generalized increase in brain volume, which in the cortical sheet, is specifically driven by altered surface area rather than cortical thickness. Surface area is maximally sensitive to BW variation within cortical regions implicated in the biology of several mental disorders, the risk for which is modified by normative BW variation. We complement this near-experimental test of prenatal environmental influences on human brain development by replicating anatomical findings in dizygotic twins and unrelated singletons. Thus, using over 1,000 brain scans, across three independent samples, we link subtle differences in prenatal growth, within ranges seen among the majority of human pregnancies, to protracted surface area alterations, that preferentially impact later-maturing associative cortices important for higher cognition. By mapping the sensitivity of postnatal human brain development to prenatal influences, our findings underline the potency of in utero life in shaping postnatal outcomes of neuroscientific and public health importance.


Assuntos
Encéfalo/embriologia , Encéfalo/crescimento & desenvolvimento , Adolescente , Adulto , Encéfalo/patologia , Encéfalo/fisiologia , Criança , Pré-Escolar , Feminino , Humanos , Processamento de Imagem Assistida por Computador/métodos , Imageamento Tridimensional , Imageamento por Ressonância Magnética/métodos , Masculino , Neuroimagem/métodos , Tamanho do Órgão , Gravidez , Gêmeos Dizigóticos , Gêmeos Monozigóticos
13.
Hum Brain Mapp ; 35(5): 1885-95, 2014 May.
Artigo em Inglês | MEDLINE | ID: mdl-23728856

RESUMO

Patient lesion and functional magnetic resonance imaging (fMRI) studies have provided convincing evidence that a distributed brain network subserves word knowledge. However, little is known about the structural correlates of this network within the context of typical development and whether anatomical coupling in linguistically relevant regions of cortex varies as a function of vocabulary skill. Here we investigate the association between vocabulary and anatomical coupling in 235 typically developing youth (ages 6-19 years) using structural MRI. The study's primary aim was to evaluate whether higher vocabulary performance was associated with greater vertex-level cortical thickness covariation in distributed regions of cortex known to be associated with word knowledge. Results indicate that better vocabulary skills are associated with greater anatomical coupling in several linguistically relevant regions of cortex, including the left inferior parietal (temporal-parietal junction), inferior temporal, middle frontal, and superior frontal gyri and the right inferior frontal and precentral gyri. Furthermore, in high vocabulary scorers, stronger coupling is found among these regions. Thus, complementing patient and fMRI studies, this is the first investigation to highlight the relevance of anatomical covariance within the cortex to vocabulary skills in typically developing youth, further elucidating the distributed nature of neural systems subserving word knowledge.


Assuntos
Córtex Cerebral/anatomia & histologia , Córtex Cerebral/fisiologia , Individualidade , Comportamento Verbal , Vocabulário , Adolescente , Fatores Etários , Criança , Desenvolvimento Infantil , Estudos Transversais , Feminino , Lateralidade Funcional , Humanos , Processamento de Imagem Assistida por Computador , Testes de Inteligência , Imageamento por Ressonância Magnética , Masculino , Adulto Jovem
14.
Autism ; : 13623613241255774, 2024 Jun 12.
Artigo em Inglês | MEDLINE | ID: mdl-38864310

RESUMO

LAY ABSTRACT: Finding a job can be hard for autistic adults. No studies have been completed that look into whether having difficulties learning and troubles finding a job are related in this population. The current study did so by evaluating the Learning Needs Screening Tool, a measure of learning challenges used in vocational rehabilitation settings, or places meant to help people find work. A total of 401 autistic adults completed this study online. Specifically, the study evaluated (a) the characteristics of the Learning Needs Screening Tool, including the relationships between questions that ask about similar learning challenges, and (b) the ability of the measure to relate to real-world outcomes that are associated with learning difficulties, namely prior special education receipt and difficulties finding a job. Evaluation of the questions asked on the Learning Needs Screening Tool revealed that they were highly related and that learning difficulties fell into different categories. Fifty-six percent of the people in the study showed learning challenges on the measure. People who were identified as having learning difficulties on the Learning Needs Screening Tool had higher rates of receiving special education services in the past and lower rates of current employment. These results suggest that the Learning Needs Screening Tool may help to identify autistic job seekers who have learning difficulties and may have more challenges finding a job.

15.
Autism Res ; 17(4): 852-867, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38108575

RESUMO

Many commonly used prescription and over-the-counter medicines have potent anticholinergic (AC) effects. Among older adults, AC medications are associated with cognitive impairment and risk for cognitive disorders, including Alzheimer's disease. Collectively, the impact of AC medications is known as anticholinergic cognitive burden (ACB). Because of the high rates of co-occurring medical and psychiatric conditions, autistic adults may have high AC exposure and, thus, may experience elevated ACB. However, no research has characterized AC exposure or examined its associations with cognitive outcomes in autistic adults. Autistic adults (40-83 years) recruited via Simons Powering Autism Research's (SPARK) Research Match service self-reported their medication use (N = 415) and memory complaints (N = 382) at Time (T)1. At T2, 2 years later, a subset of T1 participants (N = 197) self-reported on decline in cognition. Medications were coded using two scales of AC potency. A high proportion (48.2%-62.9%, depending upon the AC potency scale) of autistic adults reported taking at least one medication with AC effects, and 20.5% to 26.5% of autistic adults reported clinically-relevant levels of AC medication (potency ≥3). After controlling for birth-sex, and age, hierarchical linear regression models showed total ACB scores and AC potency values of ≥3 predicted greater memory complaints. Logistic regression models showed that AC medicines at T1 were associated with self-reported cognitive decline at follow-up 2 years later. Understanding AC medications-including potentially earlier AC polypharmacy-and their impacts on cognition (e.g., dementia risk) in autistic adults is warranted.


Assuntos
Transtorno do Espectro Autista , Transtorno Autístico , Disfunção Cognitiva , Pessoa de Meia-Idade , Humanos , Idoso , Antagonistas Colinérgicos/efeitos adversos , Transtorno Autístico/complicações , Transtorno Autístico/tratamento farmacológico , Autorrelato , Transtorno do Espectro Autista/tratamento farmacológico
16.
Autism ; : 13623613241243117, 2024 Apr 08.
Artigo em Inglês | MEDLINE | ID: mdl-38587289

RESUMO

LAY ABSTRACT: Later autism diagnosis is associated with risk for mental health problems. Understanding factors related to later autism diagnosis may help reduce mental health risks for autistic people. One characteristic associated with later autism diagnosis is female sex. However, studies often do not distinguish sex assigned at birth and gender identity. Gender diversity may be more common in autistic relative to neurotypical people, and autism is more common in gender-diverse populations. We studied age at autism diagnosis by sex assigned at birth, gender identity, and gender diversity (gender-diverse vs cisgender) status, separately. We studied three separate autistic samples, each of which differed in how they were diagnosed and how they were recruited. The samples included 193 persons (8.0-18.0 years) from a research-recruited academic medical center sample; 1,550 people (1.3-25.4 years) from a clinic-based sample; and 244 people (18.2-30.0 years) from a community-enriched sample. We found significant differences in the clinic-based and community-enriched samples. People assigned female sex at birth were diagnosed with autism significantly later than people assigned male at birth. People of female gender were diagnosed significantly later than people of male gender. Gender-diverse people were diagnosed significantly later than cisgender people. Sex assigned at birth, gender identity, and gender diversity may each show unique relationships with age of autism diagnosis. Differences in how autistic people are diagnosed and recruited are important to consider in studies that examine sex assigned at birth or gender identity. More research into autism diagnosis in adulthood is needed.

17.
J Neurosci ; 32(14): 4856-60, 2012 Apr 04.
Artigo em Inglês | MEDLINE | ID: mdl-22492041

RESUMO

In humans, behaviors associated with autism and antisociality, disorders characterized by distinct social impairments, can be viewed as quantitative traits that range from frank impairment to normal variation, as found in the general population. Neuroimaging investigations of autism and antisociality demonstrate diagnostically specific aberrant cortical brain structure. However, little is known about structural brain correlates of social behavior in nonclinical populations. Therefore, we sought to determine whether autistic and antisocial traits exhibit dissociable cortical correlates and whether these associations are stable across development among typically developing youth. Three hundred twenty-three typically developing youth (age at first scan: mean = 10.63, SD = 3.71 years) underwent anatomic magnetic resonance imaging (1-6 scans each; total = 742 scans), and provided ratings of autistic and antisocial traits. Higher autistic trait ratings were associated with thinner cortex most prominently in right superior temporal sulcus while higher antisocial trait ratings were associated with thinner cortex in primarily bilateral anterior prefrontal cortices. There was no interaction with age, indicating that these brain-behavior associations were stable across development. Using assessments of both subclinical autistic and subclinical antisocial traits within a large longitudinal sample of typically developing youth, we demonstrate dissociable neuroanatomic correlations that parallel those found in the frank clinical disorders of autism (e.g., superior temporal cortex) and antisociality (e.g., anterior prefrontal cortex). Moreover, these correlations appear to be established in early childhood and remain fixed into early adulthood. These results support the dimensional view of psychopathology and provide neural signatures that can serve as informative endophenotypes for future genetic studies.


Assuntos
Transtorno da Personalidade Antissocial/patologia , Transtorno Autístico/patologia , Córtex Pré-Frontal/patologia , Lobo Temporal/patologia , Adolescente , Adulto , Transtorno da Personalidade Antissocial/psicologia , Transtorno Autístico/psicologia , Mapeamento Encefálico/métodos , Criança , Pré-Escolar , Feminino , Humanos , Estudos Longitudinais , Masculino , Adulto Jovem
18.
Autism Adulthood ; 5(2): 139-153, 2023 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-37346988

RESUMO

Background: Although disparities in mental health and subjective quality of life (QoL) have been reported for autistic adults, reasons for these disparities are poorly understood. A potential factor in these disparities is exposure to social stressors related to minority status (i.e., minority stress), including stigma and discrimination. Autistic individuals are more likely than nonautistic individuals to be from groups with other minority identities, including sexual minorities (i.e., sexual orientations such as asexual, bisexual, gay). However, to date, few studies have examined whether sexual minority autistic adults experience diminished mental health relative to heterosexual autistic adults, and no research has examined subjective QoL for sexual minority compared with heterosexual autistic adults. Methods: Participants were 651 autistic adults aged 18.5 to 83.3 years recruited through Simons Powering Autism Research's Research Match. All participants resided in the United States. Participants completed surveys online, including measures of anxious and depressive symptomatology, perceived stress, and subjective QoL. Participants reported their sexual orientation and other sociodemographic variables. Results: A large proportion of autistic adults reported a sexual minority identity (41.2%), and a diversity of sexual identities was reported. Sexual minority autistic adults reported poorer mental health and lower subjective QoL across all assessed domains relative to heterosexual autistic adults. Conclusion: Understanding factors that may be associated with poorer mental health and decreased subjective QoL in autistic adults is critical and has been identified as a research priority by autistic stakeholders. The findings reported here underscore the need to examine mental health and subjective QoL disparities among autistic individuals within a societal context, taking into consideration the potential of intersecting minority identities and increased social stressors, as these added stressors may increase risks for poorer outcomes.


Why is this an important issue?: Autistic people are at risk for mental health problems, such as depression and anxiety, and report lower quality of life. Autistic people are more likely than nonautistic people to identify as a sexual minority. Sexual minority identities are sexual orientations other than heterosexual, such as asexual, bisexual, or gay. Sexual minority persons are also at risk for mental health problems and lower quality of life. Autistic people who are sexual minorities may have even higher risk of mental health problems and lower quality of life. What was the purpose of this study?: There is little research on mental health and quality of life in persons who are both autistic and identify as a sexual minority. Sexual minority autistic adults may be exposed to more minority-related stress than heterosexual autistic adults. People who belong to minority groups face added stress created by society. This added stress is referred to as minority stress, which includes things such as discrimination, rejection, or violence. Minority stress could increase risk for poor outcomes. We compared heterosexual and sexual minority autistic adults to see if having more than one minority identity (an autistic identity and a sexual minority identity) was associated with mental health or subjective quality of life. Subjective quality of life refers to how a person feels about parts of their life, such as their physical and psychological health or their living arrangements. What did the researchers do?: We asked 651 autistic adults living in the United States to complete surveys online. Participants rated their anxiety, depression, and everyday stress; answered questions about their subjective quality of life; and reported their sexual orientation, sex assigned at birth, and gender identity. We compared sexual minority with heterosexual autistic adults to see if they differed for mental health or subjective quality-of-life ratings. What were the results of the study?: A total of 41.2% of autistic adults reported a sexual minority identity. Autistic adults reported a diversity of sexual orientations, including asexual, bisexual, gay, and pansexual. Sexual minority autistic adults reported more depression, anxiety, and stress compared with heterosexual autistic adults. Sexual minority autistic adults reported poorer subjective quality of life across different areas of their lives compared with heterosexual autistic adults. Sexual minority autistic adults reported having less energy and more physical pain than heterosexual autistic adults. Sexual minority autistic adults also reported feeling more negative emotions and having problems with thinking/concentration. Sexual minority autistic adults reported more concerns about things such as having health care and transportation and greater worries about feeling safe in their homes and neighborhoods. Finally, sexual minority autistic adults were more likely to report that they faced barriers in their everyday lives (such as sensory sensitivities making it hard to grocery shop). What are the potential weaknesses in the study?: Although we found significant differences between sexual minority and heterosexual autistic groups, other factors likely play a role in these results. For example, we know that not having enough social support can contribute to worse mental health and quality of life. Measuring other such factors is needed in future studies. How will these findings help autistic adults now or in the future?: These findings highlight the need for more awareness of sexual minority identities in autistic adults. Understanding factors that may contribute to worse mental health and quality of life for autistic adults can help us improve well-being for all autistic people.

19.
J Autism Dev Disord ; 2023 Sep 26.
Artigo em Inglês | MEDLINE | ID: mdl-37751094

RESUMO

OBJECTIVE: Self-reported memory difficulties are common among older adults, but few studies have examined memory problems among autistic middle-aged and older people. The current study examines self-rated prospective (PM) and retrospective (RM) memory difficulties and their associations with age in middle-aged and older autistic and non-autistic people. METHODS: 350 autistic people (58% assigned-female-at-birth; age-range: 40-83 years) and 350 non-autistic adults matched on age, birth-sex and education level were included in the analysis. Participants completed the Prospective and Retrospective Memory Questionnaire (PRMQ) which includes questions about PM vs. RM (memory type), environment-cued vs. self-cued (cue), and short vs. long delay (delay). RESULTS: Autistic people reported significantly more PM and RM difficulties than the comparison group. Both groups reported more difficulties with PM (vs. RM), self-cued (vs. environment-cued), and short (vs. long) delay. No significant interactions were observed. Among autistic people, younger age was associated with reporting more PM and RM difficulties, but this pattern was not observed among non-autistic people. CONCLUSIONS: Autistic people may be at reduced risk for memory problems as they age, compared to their same-age non-autistic peers. Further studies are required to explore the association between self-reported memory challenges and memory task performance among autistic older people.

20.
Autism Res ; 16(4): 757-771, 2023 04.
Artigo em Inglês | MEDLINE | ID: mdl-36639914

RESUMO

Poor sleep can have a significant impact on physical health and well-being. Sleep problems are common among autistic children, but less is known about sleep across the autistic adult lifespan. Autistic adults (n = 730, aged 18-78 years) were recruited via Simons Powering Autism Research for Knowledge Research Match. Participants completed online surveys asking about demographics, health problems, social support, symptoms of anxiety and depression, and overall and specific aspects of sleep quality. Regression analyses explored the variables associated with sleep quality. Physical health, assigned female sex at birth and self-reported anxiety symptoms significantly contributed to models for all aspects of sleep. Perceived stress contributed to models of overall and subjective sleep quality, and daytime dysfunction. Depression symptoms did not contribute significantly to any of the models of sleep quality. However, utilizing government support mechanisms (such as social security) contributed to the model of sleep efficiency. Age contributed little to models of sleep quality, whereas perceived stress and psychotropic medication use contributed to some but not all aspects of sleep. Sleep quality is poor for autistic people across the adult lifespan. Given known impacts of poor sleep on health, cognition and quality of life, attention should be paid to sleep and its possible everyday effects for autistic people of all ages.


Assuntos
Transtorno do Espectro Autista , Transtorno Autístico , Distúrbios do Início e da Manutenção do Sono , Adulto , Criança , Recém-Nascido , Humanos , Feminino , Transtorno Autístico/complicações , Transtorno Autístico/epidemiologia , Qualidade do Sono , Qualidade de Vida , Transtorno do Espectro Autista/complicações , Transtornos de Ansiedade/complicações , Distúrbios do Início e da Manutenção do Sono/complicações
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