Behavioral impulsivity is associated with pupillary alterations and hyperactivity in CDKL5 mutant mice DOI
Aurelia Viglione, Giulia Sagona, Fabio Carrara

et al.

Human Molecular Genetics, Journal Year: 2022, Volume and Issue: 31(23), P. 4107 - 4120

Published: July 21, 2022

Abstract Cyclin-dependent kinase-like 5 (Cdkl5) deficiency disorder (CDD) is a severe neurodevelopmental condition caused by mutations in the X-linked Cdkl5 gene. CDD characterized early-onset seizures first month of life, intellectual disability, motor and social impairment. No effective treatment currently available medical management only symptomatic supportive. Recently, mouse models have demonstrated that mice lacking exhibit autism-like phenotypes, hyperactivity dysregulations arousal system, suggesting possibility to use these features as translational biomarkers. In this study, we tested male female mutant an appetitive operant conditioning chamber assess cognitive abilities, performed pupillometry integrity system. Then, evaluated performance artificial intelligence classify genotype animals from behavioral physiological phenotype. The results show display impulsivity, together with low levels flexibility perseverative behaviors. We assessed simultaneously recording pupil size locomotor activity. Pupillometry reveals smaller impaired response unexpected stimuli associated hyperlocomotion, demonstrating global defect modulation. Finally, machine learning both parameters can be considered good predictors CDD. Since early diagnosis essential evaluate outcomes pupillary measures easily, proposed monitoring promising biomarker for

Language: Английский

Transtorno do Espectro do Autismo DOI Open Access

ANDRÉA APARECIDA FRANCISCO VITAL,

ALINE HELEN CORRÊA GARCIA,

ANA PAULA DOS SANTOS

et al.

Published: Dec. 8, 2021

Intervenções baseadas no antecedente (ABI)Organização de eventos ou circunstâncias que precedem atividade demanda, a fim aumentar ocorrência comportamentos levar redução dos desafiadores/ inadequados.

Citations

86
Modern Biomarkers for Autism Spectrum Disorder: Future Directions DOI Creative Commons
Amanda Jensen,

Alison L. Lane,

Brianna A. Werner

et al.

Molecular Diagnosis & Therapy, Journal Year: 2022, Volume and Issue: 26(5), P. 483 - 495

Published: June 27, 2022

Autism spectrum disorder is an increasingly prevalent neurodevelopmental in the world today, with estimated 2% of population being affected USA. A major complicating factor diagnosing, treating, and understanding autism that defining solely based on observation behavior. Thus, recent research has focused identifying specific biological abnormalities can provide clues to diagnosis treatment. Biomarkers are objective way identify measure for diagnostic purposes as well changes resulting from This current opinion paper discusses state various biomarkers currently development disorder. The types identified include prenatal history, genetics, neurological including neuroimaging, neurophysiologic, visual attention, metabolic mitochondrial, folate, trans-methylation, trans-sulfuration pathways, immune autoantibodies cytokine dysregulation, autonomic nervous system, nutritional. Many these have promising preliminary evidence post-natal pre-symptomatic risk assessment, confirmation diagnosis, subtyping, treatment response. However, most not undergone validation studies do investigate clinically relevant comparison groups. Although field biomarker promising, it appears early stages development.

Language: Английский

Citations

57
Neural correlates of eye contact and social function in autism spectrum disorder DOI Creative Commons
Joy Hirsch, Xian Zhang, J. Adam Noah

et al.

PLoS ONE, Journal Year: 2022, Volume and Issue: 17(11), P. e0265798 - e0265798

Published: Nov. 9, 2022

Reluctance to make eye contact during natural interactions is a central diagnostic criterion for autism spectrum disorder (ASD). However, the underlying neural correlates contacts in ASD are unknown, and biomarkers active areas of investigation. Here, neuroimaging, eye-tracking, pupillometry data were acquired simultaneously using two-person functional near-infrared spectroscopy (fNIRS) live “in-person” eye-to-eye eye-gaze at video face typically-developed (TD) participants with identify both groups. Comparisons between TD showed decreased right dorsal-parietal activity increased ventral temporal-parietal (p≤0.05, FDR-corrected) reduced cross-brain coherence consistent atypical systems contact. Hypoactivity regions was further associated gold standard measures social performance by correlation responses individual of: ADOS-2, Autism Diagnostic Observation Schedule, 2 nd Edition (r = -0.76, -0.92 -0.77); SRS-2, Social Responsiveness Scale, Second -0.58). The findings indicate that as categorized ability decreases, real eye-contact dorsal parietal region also decrease correlate characteristics ASD.

Language: Английский

Citations

27
Catecholaminergic and cholinergic neuromodulation in autism spectrum disorder: A comparison to attention-deficit hyperactivity disorder DOI Creative Commons
Damian Koevoet, Peter Deschamps,

J. Leon Kenemans

et al.

Frontiers in Neuroscience, Journal Year: 2023, Volume and Issue: 16

Published: Jan. 6, 2023

Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental characterized by social impairments and restricted, repetitive behaviors. Treatment of ASD notoriously difficult might benefit from identification underlying mechanisms that overlap with those disturbed in other developmental disorders, for which treatment options are more obvious. One example the latter attention-deficit hyperactivity (ADHD), given efficacy especially stimulants ADHD. Deficiencies catecholaminergic systems [dopamine (DA), norepinephrine (NE)] ADHD obvious targets stimulant treatment. Recent findings suggest dysfunction may also be factor at least subgroup ASD. In this review we scrutinize evidence symptoms, include analysis third classic ascending arousing system, acetylcholinergic (ACh) network. We complement comprehensive DA-, NE-, ACh-targeted interventions ASD, an exploratory search potential treatment-response predictors (biomarkers) genetically or otherwise. Based on propose (1) viable option subcategory, possibly defined genetic subtyping; (2) cerebellar pronounced relatively small but much common both cases point toward NE- ACh-directed intervention; (3) deficiency cortical salience network sizable subgroups biomarkers such as eye blink rate pupillometric data predict targeting via DA, NE, ACh

Language: Английский

Citations

16
What are quantitative traits and how can they be used in autism research? DOI Creative Commons
Kristen Lyall

Autism Research, Journal Year: 2023, Volume and Issue: 16(7), P. 1289 - 1298

Published: May 22, 2023

Abstract Quantitative traits are measurable characteristics distributed along a continuous scale thought to relate underlying biology. There is growing interest in the use of quantitative behavioral and psychiatric research, particularly research on conditions diagnosed based reports behaviors, including autism. This brief commentary describes traits, defining what they are, how we can measure them, key considerations for their autism research. Examples measures include report scales like Social Responsiveness Scale Broader Autism Phenotype Questionnaire, as well biological measurements, certain neuroimaging metrics; such capture or constructs broader phenotype, social communication, cognition. trait align with Research Domain Criteria (RDoC) approach be used help gain better understanding causal pathways processes. They also aid identification genetic environmental factors involved pathways, thereby lead an influences across entire population. Finally, some cases, may gauge treatment response, assist screening clinical characterization phenotype. In addition, practical benefits improved statistical power relative categorical classifications (for measures) efficiency. Ultimately, fields benefit from incorporating complement diagnosis advance neurodevelopment.

Language: Английский

Citations

15
Eye pupil – a window into central autonomic regulation via emotional/cognitive processing DOI Creative Commons
Nikola Ferencová, Zuzana Višňovcová, Lucia Bona Olexova

et al.

Physiological Research, Journal Year: 2021, Volume and Issue: unknown, P. S669 - S682

Published: Dec. 30, 2021

If the eyes are windows into soul, then pupils represent at least gateway to brain and can provide a unique insight human mind from several aspects. The changes in pupil size primarily mediated by different lighting conditions controlled autonomic nervous system regulated predominantly subcortical level. Specifically, parasympathetically-linked pupillary constriction is under Edinger-Westphal nucleus control sympathetically-mediated dilation posterior hypothalamic nuclei. However, be observed resting state even constant lighting, these global arousal level as well various cognitive factors. In this context, pathways modulating response light levels influenced multiple central descending inputs driving steady conditions. Moreover, involved emotional (task-evoked an index of arousal) workload) stimulation, it used detect impact mutual cortical structures (i.e. overlapping included autonomic, regulation) on innervation system. Thus, complex understanding baseline size´ dynamics´ mechanisms may important functioning pointing pupillometry promising tool clinical application.

Language: Английский

Citations

30
Pupil-Linked Arousal Response Reveals Aberrant Attention Regulation among Children with Autism Spectrum Disorder DOI Open Access
Sijia Zhao, Yajie Liu, Kunlin Wei

et al.

Journal of Neuroscience, Journal Year: 2022, Volume and Issue: 42(27), P. 5427 - 5437

Published: May 31, 2022

Autism spectrum disorder (ASD) is a developmental that characterized by difficulties with social interaction and interpersonal communication. It has been argued abnormal attentional function to exogenous stimuli precedes contributes the core ASD symptoms. Notably, locus ceruleus (LC) its noradrenergic projections throughout brain modulate function, but extent which this ceruleus-norepinephrine (LC-NE) system influences attention in individuals ASD, who frequently exhibit dysregulated alerting orienting, unknown. We examined dynamic control girls boys at rest using pupil dilation response (PDR) as noninvasive measure of LC-NE activity. When gender- age-matched neurotypical participants were passively exposed an auditory stream, their PDR decreased for recurrent remained sensitive surprising deviant stimuli. In contrast, children showed less habituation well diminished phasic deviants, particularly those containing information. Their tonic impairment predicts orienting impairment, both impairments correlated severity symptom. Because fact these pupil-linked responses are observed when listen without any task engagement, our findings imply intricate allocation mechanism, mediated subcortical system, impaired ASD.

Language: Английский

Citations

20
Pupillary motility responses to affectively salient stimuli in individuals with depression or elevated risk of depression: A systematic review and meta-analysis DOI
Xi Yang, Andrew Fridman, Nash Unsworth

et al.

Neuroscience & Biobehavioral Reviews, Journal Year: 2023, Volume and Issue: 148, P. 105125 - 105125

Published: March 15, 2023

Language: Английский

Citations

12
Evidence for Locus Coeruleus–Norepinephrine System Abnormality in Military Posttraumatic Stress Disorder Revealed by Neuromelanin-Sensitive Magnetic Resonance Imaging DOI

Adelina McCall,

Reihaneh Forouhandehpour, Seyda Celebi

et al.

Biological Psychiatry, Journal Year: 2024, Volume and Issue: 96(4), P. 268 - 277

Published: Jan. 29, 2024

Language: Английский

Citations

4
Game-Based Social Interaction Platform for Cognitive Assessment of Autism Using Eye Tracking DOI Creative Commons
Yi‐Ling Chien, Chia-Hsin Lee, Yen‐Nan Chiu

et al.

IEEE Transactions on Neural Systems and Rehabilitation Engineering, Journal Year: 2022, Volume and Issue: 31, P. 749 - 758

Published: Dec. 28, 2022

The design goals of recently developed serious games are to improve attention, affective recognition, and social interactions among individuals with autism. However, most previous studies on used behavioral questionnaires evaluate their effectiveness. cognitive assessment autism after intervention or drug treatment has become important because it provides promising biomarkers assess improvement intervention. In this study, we a game-based interaction platform incorporating an eye-tracking system for children preadolescents Three modules (focusing gaze following, facial emotion skills) included in the platform; participants learn these according abilities. results showed decreased fixation durations when autistic looked at positive emotional expressions focused multiple targets. Prolonged saccade shorter times social-related were also found teenagers Our findings suggest that atypical patterns reliable evaluating functions while playing games. proposed platform's regarding aberrant demonstrate possibility effectiveness by using signals game real-life environment.

Language: Английский

Citations

18