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1.
Cardiol Young ; : 1-11, 2023 May 26.
Artículo en Inglés | MEDLINE | ID: mdl-37231612

RESUMEN

Individuals born with congenital heart disease (CHD) are at an increased risk of developing neurodevelopmental disorders. Despite this, studies are limited in their investigation of autism spectrum disorder in the context of CHD. This review provides an overview of the literature examining autism spectrum disorder in CHD and discusses strengths, limitations, and future directions. Recent efforts have been made to extrapolate the association between CHD and symptoms of autism. Findings suggest that the core features of autism spectrum disorder are also implicated in children with CHD, namely social-cognitive weaknesses, pragmatic language differences, and social problems. Compared to norm-referenced samples, separate studies have identified divergent and overlapping neuropsychological profiles among both patient groups, yet there are no studies directly comparing the two groups. There is emerging evidence of prevalence rates of autism diagnosis in CHD showing an increased odds of having autism spectrum disorder among children with CHD relative to the general population or matched controls. There also appears to be genetic links to this overlap, with several genes identified as being tied to both CHD and autism. Together, research points to potentially shared underlying mechanisms contributing to the pathophysiology of neurodevelopmental, neuropsychological, and clinical traits in CHD and autism spectrum disorder. Future investigation delineating profiles across these patient populations can fill a significant gap in the literature and aid in treatment approaches to improve clinical outcomes.

2.
J Autism Dev Disord ; 53(5): 1989-2005, 2023 May.
Artículo en Inglés | MEDLINE | ID: mdl-35194728

RESUMEN

Autism spectrum disorder (ASD), a heritable neurodevelopmental disorder, confers genetic liability that is often expressed among relatives through subclinical, genetically-meaningful traits, or endophenotypes. For instance, relative to controls, parents of individuals with ASD differ in language-related skills, with differences emerging in childhood. To examine ASD-related endophenotypes, this study investigated developmental academic profiles among clinically unaffected siblings of individuals with ASD (n = 29). Lower performance in language-related skills among siblings mirrored previously-reported patterns among parents, which were also associated with greater subclinical ASD-related traits in themselves and their parents, and with greater symptom severity in their sibling with ASD. Findings demonstrated specific phenotypes, derived from standardized academic testing, that may represent childhood indicators of genetic liability to ASD in first-degree relatives.


Asunto(s)
Trastorno del Espectro Autista , Trastorno Autístico , Humanos , Trastorno Autístico/complicaciones , Trastorno del Espectro Autista/diagnóstico , Trastorno del Espectro Autista/genética , Trastorno del Espectro Autista/complicaciones , Padres , Endofenotipos , Cognición , Hermanos
3.
J Autism Dev Disord ; 53(8): 3257-3271, 2023 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-35672616

RESUMEN

Efficient neural encoding of sound plays a critical role in speech and language, and when impaired, may have reverberating effects on communication skills. This study investigated disruptions to neural processing of temporal and spectral properties of speech in individuals with ASD and their parents and found evidence of inefficient temporal encoding of speech sounds in both groups. The ASD group further demonstrated less robust neural representation of spectral properties of speech sounds. Associations between neural processing of speech sounds and language-related abilities were evident in both groups. Parent-child associations were also detected in neural pitch processing. Together, results suggest that atypical neural processing of speech sounds is a heritable ingredient contributing to the ASD language phenotype.


Asunto(s)
Trastorno del Espectro Autista , Percepción del Habla , Humanos , Fonética , Habla , Lenguaje
4.
Child Neuropsychol ; 29(3): 413-444, 2023 04.
Artículo en Inglés | MEDLINE | ID: mdl-35904098

RESUMEN

Differences in visual attention have been documented in ASD, and appear linked to clinical symptoms. However, most research has been conducted in Western cultures. Because striking differences in visual attention patterns have been documented in other cultures, it is important to understand how culture may influence attentional patterns in ASD. This study compared differences in visual attention in ASD across Western and East Asian cultures, where differences in attention to contextual and global information have been repeatedly demonstrated, to investigate potential culturally-specific ASD phenotypes. One hundred thirty-two total participants included individuals with ASD (n = 24) and controls (n = 47) from Hong Kong (HK), along with a previously studied group of age- and IQ-comparable participants from the United States (n = 26 ASD; n = 35 control). Gaze was tracked while participants completed two narrative tasks that differed in social-emotional complexity. Proportions of fixations to face, bodies, and setting were examined across groups using linear mixed-effect models and a series of growth curve models. Cultural differences were found across tasks and groups. Both the ASD and control HK groups attended more to global contextual setting information, more to the body regions, and less toward faces of characters compared to US groups. Growth curve models indicated that these differences attenuated over time in certain stimuli. ASD-related effects were only observed in the more complex stimuli depicting characters with ambiguous facial expressions. Findings indicate a notable cultural influence on visual attention patterns in ASD, and underscore the importance of stimuli complexity in differentiating cultural versus diagnostic effects on attentional styles.


Asunto(s)
Trastorno del Espectro Autista , Humanos , Trastorno del Espectro Autista/psicología , Comparación Transcultural , Emociones , Expresión Facial , Hong Kong
5.
PLoS One ; 17(6): e0269637, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35675372

RESUMEN

Differences in speech prosody are a widely observed feature of Autism Spectrum Disorder (ASD). However, it is unclear how prosodic differences in ASD manifest across different languages that demonstrate cross-linguistic variability in prosody. Using a supervised machine-learning analytic approach, we examined acoustic features relevant to rhythmic and intonational aspects of prosody derived from narrative samples elicited in English and Cantonese, two typologically and prosodically distinct languages. Our models revealed successful classification of ASD diagnosis using rhythm-relative features within and across both languages. Classification with intonation-relevant features was significant for English but not Cantonese. Results highlight differences in rhythm as a key prosodic feature impacted in ASD, and also demonstrate important variability in other prosodic properties that appear to be modulated by language-specific differences, such as intonation.


Asunto(s)
Trastorno del Espectro Autista , Trastorno Autístico , Percepción del Habla , Trastorno del Espectro Autista/diagnóstico , Humanos , Lingüística , Aprendizaje Automático , Habla
6.
Mol Autism ; 13(1): 18, 2022 05 04.
Artículo en Inglés | MEDLINE | ID: mdl-35509089

RESUMEN

BACKGROUND: Social attention differences, expressed through gaze patterns, have been documented in autism spectrum disorder (ASD), with subtle differences also reported among first-degree relatives, suggesting a shared genetic link. Findings have mostly been derived from standard eye-tracking methods (total fixation count or total fixation duration). Given the dynamics of visual attention, these standard methods may obscure subtle, yet core, differences in visual attention mechanisms, particularly those presenting sub-clinically. This study applied a constellation of eye-tracking analyses to gaze data from individuals with ASD and their parents. METHODS: This study included n = 156 participants across groups, including ASD (n = 24) and control (n = 32) groups, and parents of individuals with ASD (n = 61) and control parents (n = 39). A complex scene with social/non-social elements was displayed and gaze tracked via an eye tracker. Eleven analytic methods from the following categories were analyzed: (1) standard variables, (2) temporal dynamics (e.g., gaze over time), (3) fixation patterns (e.g., perseverative or regressive fixations), (4) first fixations, and (5) distribution patterns. MANOVAs, growth curve analyses, and Chi-squared tests were applied to examine group differences. Finally, group differences were examined on component scores derived from a principal component analysis (PCA) that reduced variables to distinct dimensions. RESULTS: No group differences emerged among standard, first fixation, and distribution pattern variables. Both the ASD and ASD parent groups demonstrated on average reduced social attention over time and atypical perseverative fixations. Lower social attention factor scores derived from PCA strongly differentiated the ASD and ASD parent groups from controls, with parent findings driven by the subset of parents demonstrating the broad autism phenotype. LIMITATIONS: To generalize these findings, larger sample sizes, extended viewing contexts (e.g., dynamic stimuli), and even more eye-tracking analytical methods are needed. CONCLUSIONS: Fixations over time and perseverative fixations differentiated ASD and the ASD parent groups from controls, with the PCA most robustly capturing social attention differences. Findings highlight their methodological utility in studies of the (broad) autism spectrum to capture nuanced visual attention differences that may relate to clinical symptoms in ASD, and reflect genetic liability in clinically unaffected relatives. This proof-of-concept study may inform future studies using eye tracking across populations where social attention is impacted.


Asunto(s)
Trastorno del Espectro Autista , Trastorno Autístico , Atención , Trastorno del Espectro Autista/diagnóstico , Tecnología de Seguimiento Ocular , Fijación Ocular , Humanos , Fenotipo
7.
Arch Clin Neuropsychol ; 37(1): 50-62, 2022 Jan 17.
Artículo en Inglés | MEDLINE | ID: mdl-34050354

RESUMEN

OBJECTIVE: This study examined the degree to which verbal and visuospatial memory abilities influence performance validity test (PVT) performance in a mixed clinical pediatric sample. METHOD: Data from 252 consecutive clinical pediatric cases (Mage=11.23 years, SD=4.02; 61.9% male) seen for outpatient neuropsychological assessment were collected. Measures of learning and memory (e.g., The California Verbal Learning Test-Children's Version; Child and Adolescent Memory Profile [ChAMP]), performance validity (Test of Memory Malingering Trial 1 [TOMM T1]; Wechsler Intelligence Scale for Children-Fifth Edition [WISC-V] or Wechsler Adult Intelligence Scale-Fourth Edition Digit Span indices; ChAMP Overall Validity Index), and intellectual abilities (e.g., WISC-V) were included. RESULTS: Learning/memory abilities were not significantly correlated with TOMM T1 and accounted for relatively little variance in overall TOMM T1 performance (i.e., ≤6%). Conversely, ChAMP Validity Index scores were significantly correlated with verbal and visual learning/memory abilities, and learning/memory accounted for significant variance in PVT performance (12%-26%). Verbal learning/memory performance accounted for 5%-16% of the variance across the Digit Span PVTs. No significant differences in TOMM T1 and Digit Span PVT scores emerged between verbal/visual learning/memory impairment groups. ChAMP validity scores were lower for the visual learning/memory impairment group relative to the nonimpaired group. CONCLUSIONS: Findings highlight the utility of including PVTs as standard practice for pediatric populations, particularly when memory is a concern. Consistent with the adult literature, TOMM T1 outperformed other PVTs in its utility even among the diverse clinical sample with/without learning/memory impairment. In contrast, use of Digit Span indices appear to be best suited in the presence of visuospatial (but not verbal) learning/memory concerns. Finally, the ChAMP's embedded validity measure was most strongly impacted by learning/memory performance.


Asunto(s)
Simulación de Enfermedad , Trastornos de la Memoria , Adolescente , Adulto , Niño , Femenino , Humanos , Masculino , Pruebas Neuropsicológicas , Reproducibilidad de los Resultados , Aprendizaje Verbal
8.
Front Psychiatry ; 12: 718485, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34421690

RESUMEN

The FMR1 gene in its premutation (PM) state has been linked to a range of clinical and subclinical phenotypes among FMR1 PM carriers, including some subclinical traits associated with autism spectrum disorder (ASD). This study attempted to further characterize the phenotypic profile associated with the FMR1 PM by studying a battery of assessments examining clinical-behavioral traits, social-cognitive, and executive abilities in women carrying the FMR1 PM, and associations with FMR1-related variability. Participants included 152 female FMR1 PM carriers and 75 female controls who were similar in age and IQ, and screened for neuromotor impairments or signs of fragile X-associated tremor/ataxia syndrome. The phenotypic battery included assessments of ASD-related personality and language (i.e., pragmatic) traits, symptoms of anxiety and depression, four different social-cognitive tasks that tapped the ability to read internal states and emotions based on different cues (e.g., facial expressions, biological motion, and complex social scenes), and a measure of executive function. Results revealed a complex phenotypic profile among the PM carrier group, where subtle differences were observed in pragmatic language, executive function, and social-cognitive tasks that involved evaluating basic emotions and trustworthiness. The PM carrier group also showed elevated rates of ASD-related personality traits. In contrast, PM carriers performed similarly to controls on social-cognitive tasks that involved reliance on faces and biological motion. The PM group did not differ from controls on self-reported depression or anxiety symptoms. Using latent profile analysis, we observed three distinct subgroups of PM carriers who varied considerably in their performance across tasks. Among PM carriers, CGG repeat length was a significant predictor of pragmatic language violations. Results suggest a nuanced phenotypic profile characterized by subtle differences in select clinical-behavioral, social-cognitive, and executive abilities associated with the FMR1 PM in women.

9.
Sci Rep ; 11(1): 13401, 2021 06 28.
Artículo en Inglés | MEDLINE | ID: mdl-34183686

RESUMEN

Individuals with autism spectrum disorder (ASD) and their first-degree relatives demonstrate automaticity deficits reflected in reduced eye-voice coordination during rapid automatized naming (RAN), suggesting that RAN deficits may be a genetically meaningful marker of ASD language-related impairments. This study investigated whether RAN deficits in ASD extend to a language typologically distinct from English. Participants included 23 Cantonese-speaking individuals with ASD and 39 controls from Hong Kong (HK), and age- and IQ-comparable groups of previously-studied English-speaking individuals with ASD (n = 45) and controls (n = 44) from the US. Participants completed RAN on an eye tracker. Analyses examined naming time, error rate, measures of eye movement reflecting language automaticity, including eye-voice span (EVS; location of eyes versus the named item) and refixations. The HK-ASD group exhibited longer naming times and more refixations than HK-Controls, in a pattern similar to that observed in the US-ASD group. Cultural effects revealed that both HK groups showed longer EVS and more fixations than US groups. Naming time and refixation differences may be ASD-specific impairments spanning cultures/languages, whereas EVS and fixation frequency may be more variably impacted. A potential underlying mechanism of visual "stickiness" may be contributing to this breakdown in language automaticity in ASD.


Asunto(s)
Trastorno del Espectro Autista/fisiopatología , Mapeo Encefálico , Corteza Cerebral/fisiología , Comparación Transcultural , Fijación Ocular/fisiología , Lenguaje , Red Nerviosa/fisiología , Desempeño Psicomotor/fisiología , Adolescente , Adulto , Pueblo Asiatico/psicología , Trastorno del Espectro Autista/psicología , Cerebelo/fisiología , Niño , Femenino , Hong Kong , Humanos , Masculino , Nombres , Lectura , Estados Unidos , Adulto Joven
10.
Front Genet ; 12: 591211, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-33633778

RESUMEN

Atypical visual attention patterns have been observed among carriers of the fragile X mental retardation gene (FMR1) premutation (PM), with some similarities to visual attention patterns observed in autism spectrum disorder (ASD) and among clinically unaffected relatives of individuals with ASD. Patterns of visual attention could constitute biomarkers that can help to inform the neurocognitive profile of the PM, and that potentially span diagnostic boundaries. This study examined patterns of eye movement across an array of fixation measurements from three distinct eye-tracking tasks in order to investigate potentially overlapping profiles of visual attention among PM carriers, ASD parents, and parent controls. Logistic regression analyses were conducted to examine whether variables constituting a PM-specific looking profile were able to effectively predict group membership. Participants included 65PM female carriers, 188 ASD parents, and 84 parent controls. Analyses of fixations across the eye-tracking tasks, and their corresponding areas of interest, revealed a distinct visual attention pattern in carriers of the FMR1 PM, characterized by increased fixations on the mouth when viewing faces, more intense focus on bodies in socially complex scenes, and decreased fixations on salient characters and faces while narrating a wordless picture book. This set of variables was able to successfully differentiate individuals with the PM from controls (Sensitivity = 0.76, Specificity = 0.85, Accuracy = 0.77) as well as from ASD parents (Sensitivity = 0.70, Specificity = 0.80, Accuracy = 0.72), but did not show a strong distinction between ASD parents and controls (Accuracy = 0.62), indicating that this set of variables comprises a profile that is unique to PM carriers. Regarding predictive power, fixations toward the mouth when viewing faces was able to differentiate PM carriers from both ASD parents and controls, whereas fixations toward other social stimuli did not differentiate PM carriers from ASD parents, highlighting some overlap in visual attention patterns that could point toward shared neurobiological mechanisms. Results demonstrate a profile of visual attention that appears strongly associated with the FMR1 PM in women, and may constitute a meaningful biomarker.

11.
Biol Psychiatry ; 89(5): 476-485, 2021 03 01.
Artículo en Inglés | MEDLINE | ID: mdl-33229037

RESUMEN

BACKGROUND: Autism spectrum disorder (ASD) is a multifactorial neurodevelopmental disorder that encompasses a complex and heterogeneous set of traits. Subclinical traits that mirror the core features of ASD, referred to as the broad autism phenotype (BAP), have been documented repeatedly in unaffected relatives and are believed to reflect underlying genetic liability to ASD. The BAP may help inform the etiology of ASD by allowing the stratification of families into more phenotypically and etiologically homogeneous subgroups. This study explores polygenic scores related to the BAP. METHODS: Phenotypic and genotypic information were obtained from 2614 trios from the Simons Simplex Collection. Polygenic scores of ASD (ASD-PGSs) were generated across the sample to determine the shared genetic overlap between the BAP and ASD. Maternal and paternal ASD-PGSs were explored in relation to BAP traits and their child's ASD symptomatology. RESULTS: Maternal pragmatic language was related to child's social communicative atypicalities. In fathers, rigid personality was related to increased repetitive behaviors in children. Maternal (but not paternal) ASD-PGSs were related to the pragmatic language and rigid BAP domains. CONCLUSIONS: Associations emerged between parent and child phenotypes, with more associations emerging in mothers than in fathers. ASD-PGS associations emerged with BAP in mothers only, highlighting the potential for a female protective factor, and implicating the polygenic etiology of ASD-related phenotypes in the BAP.


Asunto(s)
Trastorno del Espectro Autista , Trastorno Autístico , Trastorno del Espectro Autista/genética , Niño , Padre , Femenino , Humanos , Masculino , Madres , Fenotipo
12.
J Clin Exp Neuropsychol ; 42(5): 473-484, 2020 07.
Artículo en Inglés | MEDLINE | ID: mdl-32498648

RESUMEN

INTRODUCTION: Validity indicators embedded within standard neuropsychological tests have received increasing attention as more efficient measures for sampling performance validity throughout an evaluation. This cross-sectional study examined multiple performance validity tests (PVTs) embedded in the Wechsler Adult Intelligence Scale-IV (WAIS-IV) Working Memory (WMI) and Processing Speed (PSI) Indices for detecting invalid test performance. METHOD: This cross-sectional study examined data from a mixed clinical neuropsychiatric sample of 110 patients referred for outpatient evaluation. The sample was composed of 85 patients with valid neuropsychological performance and 25 with invalid performance based on multiple independent criterion PVTs. Among the patients with valid performance, 54% were cognitively impaired, whereas 46% were cognitively unimpaired. RESULTS: Among the overall sample, performance on WMI, PSI, and 3/4 constituent subtests (i.e., Digit Span, Symbol Search, Coding) was significantly worse among the invalid group compared to the valid group (ηp2 =.06-.16) with areas under the curve (AUCs) of.67-.76 and 24-32% sensitivity (≥88% specificity) for identifying invalid performance at cut-scores that maximized accuracy. When the sample was subdivided by cognitive impairment status, AUCs of.68-.87 and 36-56% sensitivity (≥87% specificity) for detecting invalidity at cut-scores that maximized accuracy were found among those without cognitive impairment. In contrast, for patients with cognitive impairment, Digit Span, Arithmetic, WMI, and Coding were nonsignificant, and AUCs of.66-.67. Further, notably reduced sensitivities of 16-28% (≥91% specificity) were found for the remaining significant indices. CONCLUSION: Overall, results indicated that embedded WAIS-IV WMI and PSI are useful embedded PVTs in conditions in which cognitive impairment is not expected; however, these embedded PVTs demonstrated questionable utility among patients with cognitive impairment due to poor sensitivity, if adequate specificity is maintained, suggesting limited efficacy among patients with cognitive impairment due to risk of false-positive classification.


Asunto(s)
Disfunción Cognitiva/diagnóstico , Simulación de Enfermedad/diagnóstico , Memoria a Corto Plazo , Pruebas Neuropsicológicas/normas , Desempeño Psicomotor , Escalas de Wechsler/normas , Adulto , Estudios Transversales , Femenino , Humanos , Masculino , Memoria a Corto Plazo/fisiología , Persona de Mediana Edad , Desempeño Psicomotor/fisiología , Reproducibilidad de los Resultados
13.
J Autism Dev Disord ; 50(8): 3032-3045, 2020 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-32056118

RESUMEN

This study examined prosody through characterization of acoustic properties of the speech of individuals with ASD and their parents, during narration. A subset of utterances were low-pass filtered and rated for differences in intonation, speech rate, and rhythm. Listener ratings were minimally related to acoustic measures, underscoring the complexity of atypical prosody in ASD. Acoustic analyses revealed greater utterance-final fundamental frequency excursion size and slower speech rate in the ASD group. Slower speech rate was also evident in the ASD parent group, particularly parents with the broad autism phenotype. Overlapping prosodic differences in ASD and ASD Parent groups suggest that prosodic differences may constitute an important phenotype contributing to ASD features and index genetic liability to ASD among first-degree relatives.


Asunto(s)
Acústica , Trastorno del Espectro Autista/psicología , Padres , Percepción del Habla , Habla , Trastorno Autístico , Niño , Femenino , Humanos , Masculino , Narración , Fenotipo
14.
J Autism Dev Disord ; 50(9): 3358-3366, 2020 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-31535343

RESUMEN

This study examined the perception of an ASD label compared to Asperger's syndrome or no diagnosis. Seventy-one undergraduates read an adapted vignette (Ohan et al. J Autism Dev Disord 45:3384-3389, 2015) about an undergraduate with ASD, Asperger's Syndrome, or No Diagnosis. Participants also completed questionnaires. More positive ratings emerged for the Asperger's and ASD labels than No Diagnosis in low contact scenarios, particularly when involving greater social versus professional interaction. In contrast, more positive ratings emerged for the Asperger's compared to the ASD and No Diagnosis on high contact items. Ratings between low and high contact items differed only for ASD. Results demonstrate the impact of diagnostic labels across social contexts and support the need for education surrounding changes in nosology.


Asunto(s)
Síndrome de Asperger/psicología , Actitud , Trastorno Autístico/psicología , Manual Diagnóstico y Estadístico de los Trastornos Mentales , Adulto , Síndrome de Asperger/clasificación , Síndrome de Asperger/patología , Trastorno Autístico/clasificación , Trastorno Autístico/patología , Niño , Femenino , Humanos , Masculino , Estudiantes/psicología , Encuestas y Cuestionarios
15.
J Autism Dev Disord ; 50(6): 2128-2141, 2020 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-30864059

RESUMEN

This study examined narrative ability in ASD and parents across two contexts differing in structure and emotional content, and explored gaze patterns that may underlie narrative differences by presenting narrative tasks on an eye tracker. Participants included 37 individuals with ASD and 38 controls, 151 parents of individuals with ASD and 63 parent controls. The ASD and ASD parent groups demonstrated lower narrative quality than controls in the less structured narrative task only. Subtler, context-dependent differences emerged in gaze and showed some associations with narrative quality. Results indicate a narrative ability profile that may reflect genetic liability to ASD, and subtle links between visual attention and complex language skills that may be influenced by ASD genetic risk.


Asunto(s)
Trastorno del Espectro Autista/psicología , Comunicación , Relaciones Padres-Hijo , Atención , Emociones , Femenino , Humanos , Masculino , Narración , Padres
16.
Physiol Behav ; 214: 112746, 2020 02 01.
Artículo en Inglés | MEDLINE | ID: mdl-31765665

RESUMEN

The FMR1 gene is associated with a wide range of clinical and cognitive phenotypes, ranging from intellectual disability and autism symptoms in fragile X syndrome (caused by the FMR1 full mutation), to a more varied, and still poorly understood range of clinical and cognitive phenotypes among carriers of the gene in its premutation state. Because the FMR1 premutation is relatively common among women (as high as 1 in 150), investigations of its phenotypic impact could have broad implications for understanding gene-behavior relationships underlying complex human traits, with potential clinical implications. This study investigated physiological regulation measured by pupillary responses, along with fixation patterns while viewing facial expressions among women who carry the FMR1 premutation (PM group; n = 47), to examine whether the FMR1 gene may relate to physiological regulation, social-emotional functioning, and social language skills (where subclinical differences have been previously reported among PM carriers that resemble those documented in autism-related conditions). Relative to controls (n = 25), the PM group demonstrated atypical pupillary responses and fixation patterns, controlling for IQ. In the PM group, pupillary response and fixation patterns were related to social cognition, social language abilities, and FMR1-related variation. Results indicate a pattern of atypical attention allocation among women who carry the FMR1 PM that could reflect different emotion-processing strategies mediated by autonomic dysregulation and the FMR1 gene. These findings lend insight into the FMR1 gene's potential contributions to complex human traits such as social emotional processing and social language.


Asunto(s)
Emociones , Expresión Facial , Proteína de la Discapacidad Intelectual del Síndrome del Cromosoma X Frágil/genética , Reflejo Pupilar/fisiología , Secuencias Repetitivas de Ácidos Nucleicos/genética , Interacción Social , Adulto , Estudios de Casos y Controles , Femenino , Fijación Ocular/fisiología , Heterocigoto , Humanos , Lenguaje , Masculino , Mutación , Fenotipo
17.
PLoS One ; 14(7): e0219924, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-31348790

RESUMEN

The FMR1 premutation (PM) is relatively common in the general population. Evidence suggests that PM carriers may exhibit subtle differences in specific cognitive and language abilities. This study examined potential mechanisms underlying such differences through the study of gaze and language coordination during a language processing task (rapid automatized naming; RAN) among female carriers of the FMR1 PM. RAN taps a complex set of underlying neuropsychological mechanisms, with breakdowns implicating processing disruptions in fundamental skills that support higher order language and executive functions, making RAN (and analysis of gaze/language coordination during RAN) a potentially powerful paradigm for revealing the phenotypic expression of the FMR1 PM. Forty-eight PM carriers and 56 controls completed RAN on an eye tracker, where they serially named arrays of numbers, letters, colors, and objects. Findings revealed a pattern of inefficient language processing in the PM group, including a greater number of eye fixations (namely, visual regressions) and reduced eye-voice span (i.e., the eyes' lead over the voice) relative to controls. Differences were driven by performance in the latter half of the RAN arrays, when working memory and processing load are the greatest, implicating executive skills. RAN deficits were associated with broader social-communicative difficulties among PM carriers, and with FMR1-related molecular genetic variation (higher CGG repeat length, lower activation ratio, and increased levels of the fragile X mental retardation protein; FMRP). Findings contribute to an understanding of the neurocognitive profile of PM carriers and indicate specific gene-behavior associations that implicate the role of the FMR1 gene in language-related processes.


Asunto(s)
Proteína de la Discapacidad Intelectual del Síndrome del Cromosoma X Frágil/genética , Síndrome del Cromosoma X Frágil/fisiopatología , Mutación , Habla , Adulto , Estudios de Casos y Controles , Función Ejecutiva , Movimientos Oculares , Femenino , Síndrome del Cromosoma X Frágil/genética , Síndrome del Cromosoma X Frágil/psicología , Heterocigoto , Humanos , Pruebas del Lenguaje , Persona de Mediana Edad , Desempeño Psicomotor , Autoinforme , Expansión de Repetición de Trinucleótido
18.
Mol Autism ; 9: 51, 2018.
Artículo en Inglés | MEDLINE | ID: mdl-30338047

RESUMEN

Background: Rapid automatized naming (RAN; naming of familiar items presented in an array) is a task that taps fundamental neurocognitive processes that are affected in a number of complex psychiatric conditions. Deficits in RAN have been repeatedly observed in autism spectrum disorder (ASD), and also among first-degree relatives, suggesting that RAN may tap features that index genetic liability to ASD. This study used eye tracking to examine neurocognitive mechanisms related to RAN performance in ASD and first-degree relatives, and investigated links to broader language and clinical-behavioral features. Methods: Fifty-one individuals with ASD, biological parents of individuals with ASD (n = 133), and respective control groups (n = 45 ASD controls; 58 parent controls) completed RAN on an eye tracker. Variables included naming time, frequency of errors, and measures of eye movement during RAN (eye-voice span, number of fixations and refixations). Results: Both the ASD and parent-ASD groups showed slower naming times, more errors, and atypical eye-movement patterns (e.g., increased fixations and refixations), relative to controls, with differences persisting after accounting for spousal resemblance. RAN ability and associated eye movement patterns were correlated with increased social-communicative impairment and increased repetitive behaviors in ASD. Longer RAN times and greater refixations in the parent-ASD group were driven by the subgroup who showed clinical-behavioral features of the broad autism phenotype (BAP). Finally, parent-child dyad correlations revealed associations between naming time and refixations in parents with the BAP and increased repetitive behaviors in their child with ASD. Conclusions: Differences in RAN performance and associated eye movement patterns detected in ASD and in parents, and links to broader social-communicative abilities, clinical features, and parent-child associations, suggest that RAN-related abilities might constitute genetically meaningful neurocognitive markers that can help bridge connections between underlying biology and ASD symptomatology.


Asunto(s)
Trastorno del Espectro Autista/psicología , Padres/psicología , Adolescente , Adulto , Niño , Comunicación , Movimientos Oculares , Femenino , Humanos , Masculino , Persona de Mediana Edad , Conducta Social , Adulto Joven
19.
Autism Res ; 10(8): 1392-1404, 2017 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-28432743

RESUMEN

We examined global and local visual processing in autism spectrum disorder (ASD) via a match-to-sample task using Kanizsa illusory contours (KIC). School-aged children with ASD (n = 28) and age-matched typically developing controls (n = 22; 7-13 years) performed a sequential match-to-sample between a solid shape (sample) and two illusory alternatives. We tracked eye gaze and behavioral performance in two task conditions: one with and one without local interference from background noise elements. While analyses revealed lower accuracy and longer reaction time in ASD in the condition with local interference only, eye tracking robustly captured ASD-related global atypicalities across both conditions. Specifically, relative to controls, children with ASD showed decreased fixations to KIC centers, indicating reduced global perception. Notably, they did not differ from controls in regard to fixations to local elements or touch response location. These results indicate impaired global perception in the absence of heightened local processing in ASD. They also underscore the utility of eye-tracking measures as objective indices of global/local visual processing strategies in ASD. Autism Res 2017, 10: 1392-1404. © 2017 International Society for Autism Research, Wiley Periodicals, Inc.


Asunto(s)
Trastorno del Espectro Autista/fisiopatología , Percepción Visual/fisiología , Adolescente , Niño , Femenino , Fijación Ocular/fisiología , Humanos , Masculino , Estimulación Luminosa/métodos , Tiempo de Reacción/fisiología
20.
Soc Cogn Affect Neurosci ; 10(10): 1413-23, 2015 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-25809403

RESUMEN

Currently, the developmental trajectories of neural circuits implicated in autism spectrum disorders (ASD) are largely unknown. Here, we specifically focused on age-related changes in the functional circuitry of the posterior superior temporal sulcus (pSTS), a key hub underlying social-cognitive processes known to be impaired in ASD. Using a cross-sectional approach, we analysed resting-state functional magnetic resonance imaging (fMRI) data collected from children, adolescents and adults available through the autism brain imaging data exchange repository [n = 106 with ASD and n = 109 typical controls (TC), ages 7-30 years]. The observed age-related changes of pSTS intrinsic functional connectivity (iFC) suggest that no single developmental pattern characterizes ASD. Instead, pSTS circuitry displayed a complex developmental picture, with some functional circuits showing patterns consistent with atypical development in ASD relative to TC (pSTS-iFC with fusiform gyrus and angular gyrus) and others showing delayed maturation (pSTS-iFC with regions of the action perception network). Distinct developmental trajectories in different functional circuits in ASD likely reflect differential age-related changes in the socio-cognitive processes they underlie. Increasing insight on these mechanisms is a critical step in the development of age-specific interventions in ASD.


Asunto(s)
Envejecimiento , Trastorno del Espectro Autista/fisiopatología , Adolescente , Adulto , Factores de Edad , Estudios de Casos y Controles , Niño , Femenino , Humanos , Imagen por Resonancia Magnética , Masculino , Lóbulo Temporal/fisiopatología , Adulto Joven
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