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1.
Mol Psychiatry ; 2024 Feb 21.
Artigo em Inglês | MEDLINE | ID: mdl-38383768

RESUMO

White matter (WM) fiber tract differences are present in autism spectrum disorder (ASD) and could be important markers of behavior. One of the earliest phenotypic differences in ASD are language atypicalities. Although language has been linked to WM in typical development, no work has evaluated this association in early ASD. Participants came from the Infant Brain Imaging Study and included 321 infant siblings of children with ASD at high likelihood (HL) for developing ASD; 70 HL infants were later diagnosed with ASD (HL-ASD), and 251 HL infants were not diagnosed with ASD (HL-Neg). A control sample of 140 low likelihood infants not diagnosed with ASD (LL-Neg) were also included. Infants contributed expressive language, receptive language, and diffusion tensor imaging data at 6-, 12-, and 24 months. Mixed effects regression models were conducted to evaluate associations between WM and language trajectories. Trajectories of microstructural changes in the right arcuate fasciculus were associated with expressive language development. HL-ASD infants demonstrated a different developmental pattern compared to the HL-Neg and LL-Neg groups, wherein the HL-ASD group exhibited a positive association between WM fractional anisotropy and language whereas HL-Neg and LL-Neg groups showed weak or no association. No other fiber tracts demonstrated significant associations with language. In conclusion, results indicated arcuate fasciculus WM is linked to language in early toddlerhood for autistic toddlers, with the strongest associations emerging around 24 months. To our knowledge, this is the first study to evaluate associations between language and WM development during the pre-symptomatic period in ASD.

2.
Chem Rev ; 123(19): 11230-11268, 2023 Oct 11.
Artigo em Inglês | MEDLINE | ID: mdl-37589590

RESUMO

Polymorphic 2D materials allow structural and electronic phase engineering, which can be used to realize energy-efficient, cost-effective, and scalable device applications. The phase engineering covers not only conventional structural and metal-insulator transitions but also magnetic states, strongly correlated band structures, and topological phases in rich 2D materials. The methods used for the local phase engineering of 2D materials include various optical, geometrical, and chemical processes as well as traditional thermodynamic approaches. In this Review, we survey the precise manipulation of local phases and phase patterning of 2D materials, particularly with ideal and versatile phase interfaces for electronic and energy device applications. Polymorphic 2D materials and diverse quantum materials with their layered, vertical, and lateral geometries are discussed with an emphasis on the role and use of their phase interfaces. Various phase interfaces have demonstrated superior and unique performance in electronic and energy devices. The phase patterning leads to novel homo- and heterojunction structures of 2D materials with low-dimensional phase boundaries, which highlights their potential for technological breakthroughs in future electronic, quantum, and energy devices. Accordingly, we encourage researchers to investigate and exploit phase patterning in emerging 2D materials.

3.
Nature ; 542(7641): 348-351, 2017 02 15.
Artigo em Inglês | MEDLINE | ID: mdl-28202961

RESUMO

Brain enlargement has been observed in children with autism spectrum disorder (ASD), but the timing of this phenomenon, and the relationship between ASD and the appearance of behavioural symptoms, are unknown. Retrospective head circumference and longitudinal brain volume studies of two-year olds followed up at four years of age have provided evidence that increased brain volume may emerge early in development. Studies of infants at high familial risk of autism can provide insight into the early development of autism and have shown that characteristic social deficits in ASD emerge during the latter part of the first and in the second year of life. These observations suggest that prospective brain-imaging studies of infants at high familial risk of ASD might identify early postnatal changes in brain volume that occur before an ASD diagnosis. In this prospective neuroimaging study of 106 infants at high familial risk of ASD and 42 low-risk infants, we show that hyperexpansion of the cortical surface area between 6 and 12 months of age precedes brain volume overgrowth observed between 12 and 24 months in 15 high-risk infants who were diagnosed with autism at 24 months. Brain volume overgrowth was linked to the emergence and severity of autistic social deficits. A deep-learning algorithm that primarily uses surface area information from magnetic resonance imaging of the brain of 6-12-month-old individuals predicted the diagnosis of autism in individual high-risk children at 24 months (with a positive predictive value of 81% and a sensitivity of 88%). These findings demonstrate that early brain changes occur during the period in which autistic behaviours are first emerging.


Assuntos
Transtorno do Espectro Autista/diagnóstico , Transtorno do Espectro Autista/patologia , Encéfalo/crescimento & desenvolvimento , Encéfalo/patologia , Transtorno do Espectro Autista/genética , Transtorno do Espectro Autista/psicologia , Pré-Escolar , Saúde da Família , Feminino , Humanos , Lactente , Estudos Longitudinais , Masculino , Neuroimagem , Prognóstico , Risco , Comportamento Social
4.
J Environ Sci Health B ; 58(5): 389-398, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37231743

RESUMO

Cowpea is known for its high protein content (18-25%) and also chiefly raised for green fodder. The infesting pests, pod borer and aphids are the most destructive ones. To control these pests, chlorantraniliprole emerges as a promising molecule. Thus, its needs to assess the dissipation nature of the chlorantraniliprole. Hence, a trial was conducted at IIVR, Varanasi, India. The residue analysis was done through solid phase extraction method followed by gas chromatoghraphy analysis. The analytical method was standardized and validated according to international standard. The half-life of chlorantraniliprole in cowpea pods was estimated in the range of 2.79- 2.33 days in the year-I and 2.51-2.32 days in the year-II for single dose (SD) and double dose (DD) respectively. Similarly, half-life of the chlorantraniliprole in leaves 2.43-2.27 days whereas, 1.94-1.70 days in case of soil. The exposure of the residues in pods were less than maximum permissible intake (MPI). The RQ values revealed that there could be negligible risk to earthworms and arthropods. Washing with boiling water was found the most effective decontamination treatment to remove residue from cowpea pods. Thus, it could be concluded that chlorantraniliprole does not pose any significant threat when uses in cowpea in a particular dose.


Assuntos
Inseticidas , Resíduos de Praguicidas , Vigna , Cinética , Inseticidas/análise , Descontaminação/métodos , Monitoramento Ambiental , Meia-Vida , Inocuidade dos Alimentos , Resíduos de Praguicidas/análise
5.
Child Dev ; 93(2): 468-483, 2022 03.
Artigo em Inglês | MEDLINE | ID: mdl-34708871

RESUMO

Infant vocalizations are early-emerging communicative markers shown to be atypical in autism spectrum disorder (ASD), but few longitudinal, prospective studies exist. In this study, 23,850 infant vocalizations from infants at low (LR)- and high (HR)-risk for ASD (HR-ASD = 23, female = 3; HR-Neg = 35, female = 13; LR = 32, female = 10; 80% White; collected from 2007 to 2017 near Philadelphia) were analyzed at 6, 12, and 24 months. At 12 months, HR-ASD infants produced fewer vocalizations than HR-Neg infants. From 6 to 24 months, HR-Neg infants demonstrated steeper vocalization growth compared to HR-ASD and LR infants. Finally, among HR infants, vocalizing at 12 months was associated with language, social phenotype, and diagnosis at age 2. Infant vocalizing is an objective behavioral marker that could facilitate earlier detection of ASD.


Assuntos
Transtorno do Espectro Autista , Transtorno Autístico , Transtorno do Espectro Autista/diagnóstico , Biomarcadores , Comunicação , Feminino , Humanos , Lactente , Fenótipo , Estudos Prospectivos , Irmãos
6.
Angew Chem Int Ed Engl ; 61(15): e202200071, 2022 Apr 04.
Artigo em Inglês | MEDLINE | ID: mdl-35137508

RESUMO

Understanding the correlations of both the local and global structures with lattice dynamics is critical for achieving low lattice thermal conductivity (κlat ) in crystalline materials. Herein, we demonstrate local cationic off-centring within the global rock-salt structure of AgSbSe2 by using synchrotron X-ray pair distribution function analysis and unravel the origin of its ultralow κlat ≈0.4 W mK-1 at 300 K. The cations are locally off-centered along the crystallographic ⟨ 100 ⟩ direction by about ≈0.2 Å, which averages out as the rock-salt structure on the global scale. Phonon dispersion obtained by density functional theory (DFT) shows weak instabilities that cause local off-centering distortions within an anharmonic double-well potential. The local structural distortion arises from the stereochemically active 5s2 lone pairs of Sb. Our findings open an avenue for understanding how the local structure influences the phonon transport and facilitates the design of next-generation crystalline materials with tailored thermal properties.

7.
J Child Psychol Psychiatry ; 62(8): 949-960, 2021 08.
Artigo em Inglês | MEDLINE | ID: mdl-33174202

RESUMO

BACKGROUND: Girls with autism spectrum condition (ASC) are chronically underdiagnosed compared to boys, which may be due to poorly understood sex differences in a variety of domains, including social interest and motivation. In this study, we use natural language processing to identify objective markers of social phenotype that are easily obtained from a brief conversation with a nonexpert. METHODS: 87 school-aged children and adolescents with ASC (17 girls, 33 boys) or typical development (TD; 15 girls, 22 boys) were matched on age (mean = 11.35 years), IQ estimates (mean = 107), and - for ASC participants - level of social impairment. Participants engaged in an informal 5-min 'get to know you' conversation with a nonexpert conversation partner. To measure attention to social groups, we analyzed first-person plural pronoun variants (e.g., 'we' and 'us') and third-person plural pronoun variants (e.g., 'they' and 'them'). RESULTS: Consistent with prior research suggesting greater social motivation in autistic girls, autistic girls talked more about social groups than did ASC boys. Compared to TD girls, autistic girls demonstrated atypically heightened discussion of groups they were not a part of ('they', 'them'), indicating potential awareness of social exclusion. Pronoun use predicted individual differences in the social phenotypes of autistic girls. CONCLUSIONS: Relatively heightened but atypical social group focus is evident in autistic girls during spontaneous conversation, which contrasts with patterns observed in autistic boys and TD girls. Quantifying subtle linguistic differences in verbally fluent autistic girls is an important step toward improved identification and support for this understudied sector of the autism spectrum.


Assuntos
Transtorno do Espectro Autista , Transtorno Autístico , Adolescente , Criança , Feminino , Humanos , Idioma , Masculino , Motivação , Fenótipo
8.
J Child Psychol Psychiatry ; 62(10): 1236-1245, 2021 10.
Artigo em Inglês | MEDLINE | ID: mdl-33826159

RESUMO

BACKGROUND: Diagnostic shifts at early ages may provide invaluable insights into the nature of separation between autism spectrum disorder (ASD) and typical development. Recent conceptualizations of ASD suggest the condition is only fuzzily separated from non-ASD, with intermediate cases between the two. These intermediate cases may shift along a transition region over time, leading to apparent instability of diagnosis. METHODS: We used a cohort of children with high ASD risk, by virtue of having an older sibling with ASD, assessed at 24 months (N = 212) and 36 months (N = 191). We applied machine learning to empirically characterize the classification boundary between ASD and non-ASD, using variables quantifying developmental and adaptive skills. We computed the distance of children to the classification boundary. RESULTS: Children who switched diagnostic labels from 24 to 36 months, in both directions, (dynamic group) had intermediate phenotypic profiles. They were closer to the classification boundary compared to children who had stable diagnoses, both at 24 months (Cohen's d = .52) and at 36 months (d = .75). The magnitude of change in distance between the two time points was similar for the dynamic and stable groups (Cohen's d = .06), and diagnostic shifts were not associated with a large change. At the individual level, a few children in the dynamic group showed substantial change. CONCLUSIONS: Our results suggested that a diagnostic shift was largely due to a slight movement within a transition region between ASD and non-ASD. This fact highlights the need for more vigilant surveillance and intervention strategies. Young children with intermediate phenotypes may have an increased susceptibility to gain or lose their diagnosis at later ages, calling attention to the inherently dynamic nature of early ASD diagnoses.


Assuntos
Transtorno do Espectro Autista , Transtorno do Espectro Autista/diagnóstico , Pré-Escolar , Estudos de Coortes , Diagnóstico Precoce , Humanos , Fenótipo , Irmãos
9.
J Am Chem Soc ; 142(36): 15595-15603, 2020 Sep 09.
Artigo em Inglês | MEDLINE | ID: mdl-32799442

RESUMO

Fundamental understanding of the correlation between chemical bonding and lattice dynamics in intrinsically low thermal conductive crystalline solids is important to thermoelectrics, thermal barrier coating, and more recently to photovoltaics. Two-dimensional (2D) layered halide perovskites have recently attracted widespread attention in optoelectronics and solar cells. Here, we discover intrinsically ultralow lattice thermal conductivity (κL) in the single crystal of all-inorganic layered Ruddlesden-Popper (RP) perovskite, Cs2PbI2Cl2, synthesized by the Bridgman method. We have measured the anisotropic κL value of the Cs2PbI2Cl2 single crystal and observed an ultralow κL value of ∼0.37-0.28 W/mK in the temperature range of 295-523 K when measured along the crystallographic c-axis. First-principles density functional theory (DFT) analysis of the phonon spectrum uncovers the presence of soft (frequency ∼18-55 cm-1) optical phonon modes that constitute relatively flat bands due to localized vibrations of Cs and I atoms. A further low energy optical mode exists at ∼12 cm-1 that originates from dynamic octahedral rotation around Pb caused by anharmonic vibration of Cl atoms induced by a 3s2 lone pair. We provide experimental evidence for such low energy optical phonon modes with low-temperature heat capacity and temperature-dependent Raman spectroscopic measurements. The strong anharmonic coupling of the low energy optical modes with acoustic modes causes damping of heat carrying acoustic phonons to ultrasoft frequency (maximum ∼37 cm-1). The combined effect of soft elastic layered structure, abundance of low energy optical phonons, and strong acoustic-optical phonon coupling results in an intrinsically ultralow κL value in the all-inorganic layered RP perovskite Cs2PbI2Cl2.

10.
J Pediatr Psychol ; 45(2): 121-130, 2020 03 01.
Artigo em Inglês | MEDLINE | ID: mdl-31764985

RESUMO

OBJECTIVE: Predictive testing for familial disorders can guide healthcare and reproductive decisions. Familial disorders with onset in childhood (e.g., autism spectrum disorder [ASD]) are promising targets for presymptomatic prediction; however, little is known about parent perceptions of risk to their children in the presymptomatic period. The current study examined risk perceptions in parents of infants at high familial risk for ASD enrolled in a longitudinal study of brain and behavior development. METHODS: Semistructured interviews were conducted with 37 parents of high-risk infants during the presymptomatic window (3-15 months) that precedes an ASD diagnosis. Infants were identified as high familial risk due to having an older sibling with ASD. Parent interview responses were coded and interpreted to distill emerging themes. RESULTS: The majority of parents were aware of the increased risk of ASD for their infants, and risk perceptions were influenced by comparisons to their older child with ASD. Parents reported a variety of negative emotions in response to perceived risk, including worry, fear, and sadness, and described impacts of perceived risk on their behavior: increased vigilance to emerging symptoms, altered reproductive and healthcare decisions, and seeking ongoing assessment through research. CONCLUSIONS: Parents of children at high familial risk for childhood-onset disorders like ASD face a period of challenging uncertainty during early development. In anticipation of a future in which presymptomatic testing for ASD is made available, it is important to understand how parents react to and cope with the elevated-but still highly uncertain-risk conveyed by family history.


Assuntos
Transtorno do Espectro Autista/genética , Predisposição Genética para Doença , Conhecimentos, Atitudes e Prática em Saúde , Pais/psicologia , Transtorno do Espectro Autista/psicologia , Emoções/fisiologia , Feminino , Humanos , Lactente , Entrevistas como Assunto , Estudos Longitudinais , Masculino , Fatores de Risco
11.
J Am Chem Soc ; 141(51): 20293-20299, 2019 Dec 26.
Artigo em Inglês | MEDLINE | ID: mdl-31804809

RESUMO

Understanding the mechanism that correlates phonon transport with chemical bonding and solid-state structure is the key to envisage and develop materials with ultralow thermal conductivity, which are essential for efficient thermoelectrics and thermal barrier coatings. We synthesized thallium selenide (TlSe), which is comprised of intertwined stiff and weakly bonded substructures and exhibits intrinsically ultralow lattice thermal conductivity (κL) of 0.62-0.4 W/mK in the range 295-525 K. Ultralow κL of TlSe is a result of its low energy optical phonon modes which strongly interact with the heat carrying acoustic phonons. Low energy optical phonons of TlSe are associated with the intrinsic rattler-like vibration of Tl+ cations in the cage constructed by the chains of (TlSe2)nn-, as evident in low temperature heat capacity, terahertz time-domain spectroscopy, and temperature dependent Raman spectroscopy. Density functional theoretical analysis reveals the bonding hierarchy in TlSe which involves ionic interaction in Tl+-Se while Tl3+-Se bonds are covalent, which causes significant lattice anharmonicity and intrinsic rattler-like low energy vibrations of Tl+, resulting in ultralow κL.

12.
J Pediatr ; 205: 202-209, 2019 02.
Artigo em Inglês | MEDLINE | ID: mdl-30314662

RESUMO

OBJECTIVE: To assess contributing factors to increased obesity risk, by comparing children with autism spectrum disorder (ASD), developmental delays/disorders, and general population controls in weight status, and to examine associations between weight status and presence of co-occurring medical, behavioral, developmental, or psychiatric conditions across groups and ASD severity among children with ASD. STUDY DESIGN: The Study to Explore Early Development is a multisite cross-sectional study of children, 2-5 years of age, classified as children with ASD (n = 668), children with developmental delays/disorders (n = 914), or general population controls (n = 884). Using an observational cohort design, we compared the 3 groups. Children's heights and weights were measured during a clinical visit. Co-occurring conditions (medical, behavioral, developmental/psychiatric) were derived from medical records, interviews, and questionnaires. ASD severity was measured by the Ohio State University Global Severity Scale for Autism. RESULTS: The odds of overweight/obesity were 1.57 times (95% CI 1.24-2.00) higher in children with ASD than general population controls and 1.38 times (95% CI 1.10-1.72) higher in children with developmental delays/disorders than general population controls. The aORs were elevated for children with ASD after controlling for child co-occurring conditions (ASD vs general population controls: aOR = 1.51; 95% CI 1.14-2.00). Among children with ASD, those with severe ASD symptoms were 1.7 times (95% CI 1.1-2.8) more likely to be classified as overweight/obese compared with children with mild ASD symptoms. CONCLUSIONS: Prevention of excess weight gain in children with ASD, especially those with severe symptoms, and in children with developmental delays/disorders represents an important target for intervention.


Assuntos
Transtorno do Espectro Autista/epidemiologia , Peso Corporal , Transtornos Globais do Desenvolvimento Infantil/epidemiologia , Desenvolvimento Infantil , Vigilância da População/métodos , Transtorno do Espectro Autista/diagnóstico , Transtornos Globais do Desenvolvimento Infantil/diagnóstico , Pré-Escolar , Comorbidade , Estudos Transversais , Feminino , Seguimentos , Humanos , Masculino , Prevalência , Estudos Retrospectivos , Índice de Gravidade de Doença , Estados Unidos/epidemiologia
13.
Cereb Cortex ; 28(2): 750-763, 2018 02 01.
Artigo em Inglês | MEDLINE | ID: mdl-29186388

RESUMO

Infant gross motor development is vital to adaptive function and predictive of both cognitive outcomes and neurodevelopmental disorders. However, little is known about neural systems underlying the emergence of walking and general gross motor abilities. Using resting state fcMRI, we identified functional brain networks associated with walking and gross motor scores in a mixed cross-sectional and longitudinal cohort of infants at high and low risk for autism spectrum disorder, who represent a dimensionally distributed range of motor function. At age 12 months, functional connectivity of motor and default mode networks was correlated with walking, whereas dorsal attention and posterior cingulo-opercular networks were implicated at age 24 months. Analyses of general gross motor function also revealed involvement of motor and default mode networks at 12 and 24 months, with dorsal attention, cingulo-opercular, frontoparietal, and subcortical networks additionally implicated at 24 months. These findings suggest that changes in network-level brain-behavior relationships underlie the emergence and consolidation of walking and gross motor abilities in the toddler period. This initial description of network substrates of early gross motor development may inform hypotheses regarding neural systems contributing to typical and atypical motor outcomes, as well as neurodevelopmental disorders associated with motor dysfunction.


Assuntos
Encéfalo/diagnóstico por imagem , Encéfalo/crescimento & desenvolvimento , Desenvolvimento Infantil/fisiologia , Rede Nervosa/diagnóstico por imagem , Rede Nervosa/crescimento & desenvolvimento , Caminhada/fisiologia , Transtorno do Espectro Autista/diagnóstico por imagem , Transtorno do Espectro Autista/fisiopatologia , Pré-Escolar , Feminino , Humanos , Lactente , Estudos Longitudinais , Imageamento por Ressonância Magnética/tendências , Masculino , Vias Neurais/diagnóstico por imagem , Vias Neurais/crescimento & desenvolvimento
14.
Child Dev ; 89(2): e60-e73, 2018 03.
Artigo em Inglês | MEDLINE | ID: mdl-28295208

RESUMO

Children's early language environments are related to later development. Little is known about this association in siblings of children with autism spectrum disorder (ASD), who often experience language delays or have ASD. Fifty-nine 9-month-old infants at high or low familial risk for ASD contributed full-day in-home language recordings. High-risk infants produced more vocalizations than low-risk peers; conversational turns and adult words did not differ by group. Vocalization differences were driven by a subgroup of "hypervocal" infants. Despite more vocalizations overall, these infants engaged in less social babbling during a standardized clinic assessment, and they experienced fewer conversational turns relative to their rate of vocalizations. Two ways in which these individual and environmental differences may relate to subsequent development are discussed.


Assuntos
Transtorno do Espectro Autista/fisiopatologia , Desenvolvimento Infantil/fisiologia , Comportamento do Lactente/fisiologia , Irmãos , Comportamento Social , Comportamento Verbal/fisiologia , Feminino , Humanos , Lactente , Masculino , Risco , Processamento de Sinais Assistido por Computador
15.
Dev Neurosci ; 38(1): 1-14, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-26730806

RESUMO

BACKGROUND: x03B3; (∼30-80 Hz) brain rhythms are thought to be abnormal in neurodevelopmental disorders such as schizophrenia and autism spectrum disorder (ASD). In adult populations, auditory 40-Hz click trains or 40-Hz amplitude-modulated tones are used to assess the integrity of superior temporal gyrus (STG) 40-Hz x03B3;-band circuits. As STG 40-Hz auditory steady-state responses (ASSRs) are not fully developed in children, tasks using these stimuli may not be optimal in younger patient populations. The present study examined this issue in typically developing (TD) children as well as in children with ASD, using source localization to directly assess activity in the principal generators of the 40-Hz ASSR in the left and right primary/secondary auditory cortices. METHODS: 40-Hz amplitude-modulated tones of 1 s duration were binaurally presented while magnetoencephalography data were obtained from 48 TD children (45 males; 7-14 years old) and 42 ASD children (38 males; 8-14 years old). T1-weighted structural MRI was obtained. Using single dipoles anatomically constrained to each participant's left and right Heschl's Gyrus, left and right 40-Hz ASSR total power (TP) and intertrial coherence (ITC) measures were obtained. Associations between 40-Hz ASSR TP, ITC and age as well as STG gray matter cortical thickness (CT) were assessed. Group STG function and structure differences were also examined. RESULTS: TD and ASD did not differ in 40-Hz ASSR TP or ITC. In TD and ASD, age was associated with left and right 40-Hz ASSR ITC (p < 0.01). The interaction term was not significant, indicating in both groups a ∼0.01/year increase in ITC. 40-Hz ASSR TP and ITC were greater in the right than left STG. Groups did not differ in STG CT, and no associations were observed between 40-Hz ASSR activity and STG CT. Finally, right STG transient x03B3; (50-100 ms and 30-50 Hz) was greater in TD versus ASD (significant for TP, trend for ITC). CONCLUSIONS: The 40-Hz ASSR develops, in part, via an age-related increase in neural synchrony. Greater right than left 40-Hz ASSRs (ITC and TP) suggested earlier maturation of right versus left STG neural network(s). Given a ∼0.01/year increase in ITC, 40-Hz ASSRs were weak or absent in many of the younger participants, suggesting that 40-Hz driving stimuli are not optimal for examining STG 40-Hz auditory neural circuits in younger populations. Given the caveat that 40-Hz auditory steady-state neural networks are poorly assessed in children, the present analyses did not point to atypical development of STG 40-Hz ASSRs in higher-functioning children with ASD. Although groups did not differ in 40-Hz auditory steady-state activity, replicating previous studies, there was evidence for greater right STG transient x03B3; activity in TD versus ASD.


Assuntos
Córtex Auditivo/fisiopatologia , Transtorno do Espectro Autista/fisiopatologia , Desenvolvimento Infantil/fisiologia , Potenciais Evocados Auditivos/fisiologia , Magnetoencefalografia , Estimulação Acústica/métodos , Adolescente , Adulto , Transtorno do Espectro Autista/diagnóstico , Criança , Eletroencefalografia/métodos , Eletrofisiologia/métodos , Feminino , Humanos , Imageamento por Ressonância Magnética/métodos , Magnetoencefalografia/métodos , Masculino
16.
Neuroimage ; 98: 50-60, 2014 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-24799135

RESUMO

Neuropsychiatric disorders are notoriously heterogeneous in their presentation, which precludes straightforward and objective description of the differences between affected and typical populations that therefore makes finding reliable biomarkers a challenge. This difficulty underlines the need for reliable methods to capture sample characteristics of heterogeneity using a single continuous measure, incorporating the multitude of scores used to describe different aspects of functioning. This study addresses this challenge by proposing a general method of identifying and quantifying the heterogeneity of any clinical population using a severity measure called the PUNCH (Population Characterization of Heterogeneity). PUNCH is a decision level fusion technique to incorporate decisions of various phenotypic scores, while providing interpretable weights for scores. We provide applications of our framework to simulated datasets and to a large sample of youth with Autism Spectrum Disorder (ASD). Next we stratify PUNCH scores in our ASD sample and show how severity moderates findings of group differences in diffusion weighted brain imaging data; more severely affected subgroups of ASD show expanded differences compared to age and gender matched healthy controls. Results demonstrate the ability of our measure in quantifying the underlying heterogeneity of the clinical samples, and suggest its utility in providing researchers with reliable severity assessments incorporating population heterogeneity.


Assuntos
Transtornos Globais do Desenvolvimento Infantil/diagnóstico , Tomada de Decisões Assistida por Computador , Índice de Gravidade de Doença , Adolescente , Algoritmos , Criança , Simulação por Computador , Humanos , Masculino , Fenótipo , População
17.
J Child Psychol Psychiatry ; 55(8): 945-53, 2014 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-24552513

RESUMO

BACKGROUND: Recent evidence suggests that restricted and repetitive behaviors may differentiate children who develop autism spectrum disorder (ASD) by late infancy. How these core symptoms manifest early in life, particularly among infants at high risk for the disorder, is not well characterized. METHODS: Prospective, longitudinal parent-report data (Repetitive Behavior Scales-Revised) were collected for 190 high-risk toddlers and 60 low-risk controls from 12 to 24 months of age. Forty-one high-risk children were classified with ASD at age 2. Profiles of repetitive behavior were compared between groups using generalized estimating equations. RESULTS: Longitudinal profiles for children diagnosed with ASD differed significantly from high- and low-risk children without the disorder on all measures of repetitive behavior. High-risk toddlers without ASD were intermediate to low risk and ASD positive counterparts. Toddlers with ASD showed significantly higher rates of repetitive behavior across subtypes at the 12-month time point. Repetitive behaviors were significantly correlated with adaptive behavior and socialization scores among children with ASD at 24 months of age, but were largely unrelated to measures of general cognitive ability. CONCLUSIONS: These findings suggest that as early as 12 months of age, a broad range of repetitive behaviors are highly elevated in children who go on to develop ASD. While some degree of repetitive behavior is elemental to typical early development, the extent of these behaviors among children who develop ASD appears highly atypical.


Assuntos
Transtorno Autístico/psicologia , Comportamento Estereotipado , Fatores Etários , Estudos de Casos e Controles , Desenvolvimento Infantil , Pré-Escolar , Estudos Transversais , Feminino , Humanos , Lactente , Estudos Longitudinais , Masculino
18.
J Neurodev Disord ; 16(1): 12, 2024 Mar 20.
Artigo em Inglês | MEDLINE | ID: mdl-38509470

RESUMO

BACKGROUND: Specifying early developmental differences among neurodevelopmental disorders with distinct etiologies is critical to improving early identification and tailored intervention during the first years of life. Recent studies have uncovered important differences between infants with fragile X syndrome (FXS) and infants with familial history of autism spectrum disorder who go on to develop autism themselves (FH-ASD), including differences in brain development and behavior. Thus far, there have been no studies longitudinally investigating differential developmental skill profiles in FXS and FH-ASD infants. METHODS: The current study contrasted longitudinal trajectories of verbal (expressive and receptive language) and nonverbal (gross and fine motor, visual reception) skills in FXS and FH-ASD infants, compared to FH infants who did not develop ASD (FH-nonASD) and typically developing controls. RESULTS: Infants with FXS showed delays on a nonverbal composite compared to FH-ASD (as well as FH-nonASD and control) infants as early as 6 months of age. By 12 months an ordinal pattern of scores was established between groups on all domains tested, such that controls > FH-nonASD > FH-ASD > FXS. This pattern persisted through 24 months. Cognitive level differentially influenced developmental trajectories for FXS and FH-ASD. CONCLUSIONS: Our results demonstrate detectable group differences by 6 months between FXS and FH-ASD as well as differential trajectories on each domain throughout infancy. This work further highlights an earlier onset of global cognitive delays in FXS and, conversely, a protracted period of more slowly emerging delays in FH-ASD. Divergent neural and cognitive development in infancy between FXS and FH-ASD contributes to our understanding of important distinctions in the development and behavioral phenotype of these two groups.


Assuntos
Transtorno do Espectro Autista , Transtorno Autístico , Síndrome do Cromossomo X Frágil , Lactente , Humanos , Síndrome do Cromossomo X Frágil/complicações , Síndrome do Cromossomo X Frágil/psicologia , Transtorno do Espectro Autista/complicações , Transtorno do Espectro Autista/psicologia , Idioma , Cognição
19.
Dev Cogn Neurosci ; 65: 101333, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38154378

RESUMO

Amygdala function is implicated in the pathogenesis of autism spectrum disorder (ASD) and anxiety. We investigated associations between early trajectories of amygdala growth and anxiety and ASD outcomes at school age in two longitudinal studies: high- and low-familial likelihood for ASD, Infant Brain Imaging Study (IBIS, n = 257) and typically developing (TD) community sample, Early Brain Development Study (EBDS, n = 158). Infants underwent MRI scanning at up to 3 timepoints from neonate to 24 months. Anxiety was assessed at 6-12 years. Linear multilevel modeling tested whether amygdala volume growth was associated with anxiety symptoms at school age. In the IBIS sample, children with higher anxiety showed accelerated amygdala growth from 6 to 24 months. ASD diagnosis and ASD familial likelihood were not significant predictors. In the EBDS sample, amygdala growth from birth to 24 months was associated with anxiety. More anxious children had smaller amygdala volume and slower rates of amygdala growth. We explore reasons for the contrasting results between high-familial likelihood for ASD and TD samples, grounding results in the broader literature of variable associations between early amygdala volume and later anxiety. Results have the potential to identify mechanisms linking early amygdala growth to later anxiety in certain groups.


Assuntos
Transtorno do Espectro Autista , Criança , Lactente , Recém-Nascido , Humanos , Ansiedade , Transtornos de Ansiedade , Encéfalo , Imageamento por Ressonância Magnética/métodos , Tonsila do Cerebelo
20.
Artigo em Inglês | MEDLINE | ID: mdl-37484882

RESUMO

Background: Difficulties with praxis, the ability to perform learned skilled movements, have been robustly demonstrated in autism spectrum disorder (autism). However, praxis assessment is not routinely included in autism characterization batteries, in part because it is traditionally time consuming to administer and score. We test whether dyspraxia in autism can be captured with a brief measure. Method: Youth with autism (n = 41) and matched typically developing controls (n = 32), aged 8 to 16 years, completed a 5-minute praxis battery. The 19-item battery included four subtests: gesture to command, tool use, familiar imitation, and meaningless imitation. Video recordings were coded for error types and compared to participant characterization variables. Results: Consistent with research using a lengthy battery, autistic youth made more errors overall, with a large effect size. Groups demonstrated similar distributions of error types, suggesting that dyspraxia in autism is not limited to a particular error form. In the autism group, praxis was associated with adaptive functioning, but not autism traits. Conclusions: A shortened battery is sufficiently sensitive to praxis differences between autistic and typically developing youth, increasing the feasibility of including praxis within clinical assessments or larger research batteries aimed at testing relationships with downstream skills.

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