Neurobehavioral Assessment of Sensorimotor Function in Autism Using Smartphone Technology / Kayleigh D. GULTIG in Autism Research, 19-2 (February 2026)  

Public ISBD [article]  inAutism Research > 19-2 (February 2026) . - e70166 Titre : Neurobehavioral Assessment of Sensorimotor Function in Autism Using Smartphone Technology Type de document : texte imprimé Auteurs : Kayleigh D. GULTIG, Auteur ; Cornelis P. BOELE, Auteur ; Lotte E. M. ROGGEVEEN, Auteur ; Ting Fang SOONG, Auteur ; Seth SHERRY, Auteur ; Caroline JUNG, Auteur ; Sara MILOSEVSKA, Auteur ; Anton UVAROV, Auteur ; Khalid BENHASSAN, Auteur ; Said Ait BENALI, Auteur ; Yasmine AHAJOUI, Auteur ; Valeria CARPIO-ARIAS, Auteur ; Sander LINDEMAN, Auteur ; Sebastiaan K. E. KOEKKOEK, Auteur ; Esra SEFIK, Auteur ; Myrthe J. OTTENHOFF, Auteur ; Samuel S. H. WANG, Auteur ; Chris I. DE ZEEUW, Auteur ; Abdeslem EL IDRISSI, Auteur ; Henk-Jan BOELE, Auteur Article en page(s) : e70166 Langues : Anglais (eng) Mots-clés : autism spectrum disorder  neurodevelopmental disorders  neurophysiological tests  perception  reflex startle Index. décimale : PER Périodiques Résumé : ABSTRACT Differences in sensorimotor processing represent an important, yet underrecognized, feature of autism; typically assessed through subjective observations, which, although important, are susceptible to biases. To complement these observations, a more objective approach to assess sensorimotor function may be possible through reflex-based neurobehavioral evaluations. The clinical application of these assessments has, however, been largely confined to laboratory settings. Thus, small sample sizes and inconsistent findings have made it challenging to understand how sensorimotor function differs in autism and whether it can be used as an objective biomarker for diagnostics. Here we present a novel smartphone-based platform to conduct neurobehavioral evaluations by measuring facial and behavioral responses in at-home environments. Through a multi-center study, we explored the platform's ability to distinguish between children with and without autism. We enrolled 536 children aged 3?12?years. BlinkLab smartphone-based assessments were successfully completed in 431 children (80.4%), including 275 with autism and 156 neurotypical children. We found that autistic children showed altered sensorimotor responses across multiple domains. These included reduced prepulse inhibition (PPI), stronger startle habituation over the course of a PPI test, more variable eyeblink responses to auditory stimuli and significant sensitization. Additionally, children with autism displayed more screen avoidance, postural instability, head movements, mouth openings, non-syllabic vocalizations, horizontal pupil shifts, ?side-eyeing?, and variation in baseline eyelid opening. Exploratory analyses showed that these effects were largely independent of co-occurring conditions. Notably, co-occurrence did influence certain subdomains (e.g., PPI, mouth openings). These findings illustrate that smartphone-based assessments can capture distinct sensorimotor profiles associated with autism in real-world environments. En ligne : https://doi.org/10.1002/aur.70166 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=582 [article] Neurobehavioral Assessment of Sensorimotor Function in Autism Using Smartphone Technology [texte imprimé] / Kayleigh D. GULTIG, Auteur ; Cornelis P. BOELE, Auteur ; Lotte E. M. ROGGEVEEN, Auteur ; Ting Fang SOONG, Auteur ; Seth SHERRY, Auteur ; Caroline JUNG, Auteur ; Sara MILOSEVSKA, Auteur ; Anton UVAROV, Auteur ; Khalid BENHASSAN, Auteur ; Said Ait BENALI, Auteur ; Yasmine AHAJOUI, Auteur ; Valeria CARPIO-ARIAS, Auteur ; Sander LINDEMAN, Auteur ; Sebastiaan K. E. KOEKKOEK, Auteur ; Esra SEFIK, Auteur ; Myrthe J. OTTENHOFF, Auteur ; Samuel S. H. WANG, Auteur ; Chris I. DE ZEEUW, Auteur ; Abdeslem EL IDRISSI, Auteur ; Henk-Jan BOELE, Auteur . - e70166. Langues : Anglais (eng) in Autism Research > 19-2 (February 2026) . - e70166 Mots-clés : autism spectrum disorder  neurodevelopmental disorders  neurophysiological tests  perception  reflex startle Index. décimale : PER Périodiques Résumé : ABSTRACT Differences in sensorimotor processing represent an important, yet underrecognized, feature of autism; typically assessed through subjective observations, which, although important, are susceptible to biases. To complement these observations, a more objective approach to assess sensorimotor function may be possible through reflex-based neurobehavioral evaluations. The clinical application of these assessments has, however, been largely confined to laboratory settings. Thus, small sample sizes and inconsistent findings have made it challenging to understand how sensorimotor function differs in autism and whether it can be used as an objective biomarker for diagnostics. Here we present a novel smartphone-based platform to conduct neurobehavioral evaluations by measuring facial and behavioral responses in at-home environments. Through a multi-center study, we explored the platform's ability to distinguish between children with and without autism. We enrolled 536 children aged 3?12?years. BlinkLab smartphone-based assessments were successfully completed in 431 children (80.4%), including 275 with autism and 156 neurotypical children. We found that autistic children showed altered sensorimotor responses across multiple domains. These included reduced prepulse inhibition (PPI), stronger startle habituation over the course of a PPI test, more variable eyeblink responses to auditory stimuli and significant sensitization. Additionally, children with autism displayed more screen avoidance, postural instability, head movements, mouth openings, non-syllabic vocalizations, horizontal pupil shifts, ?side-eyeing?, and variation in baseline eyelid opening. Exploratory analyses showed that these effects were largely independent of co-occurring conditions. Notably, co-occurrence did influence certain subdomains (e.g., PPI, mouth openings). These findings illustrate that smartphone-based assessments can capture distinct sensorimotor profiles associated with autism in real-world environments. En ligne : https://doi.org/10.1002/aur.70166 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=582

Synaptic vesicle dynamic changes in a model of fragile X / Jantine A.C. BROEK in Molecular Autism, 7 (2016)  

Public ISBD [article]  inMolecular Autism > 7 (2016) . - 17p. Titre : Synaptic vesicle dynamic changes in a model of fragile X Type de document : texte imprimé Auteurs : Jantine A.C. BROEK, Auteur ; Zhanmin LIN, Auteur ; H. Martijn DE GRUITER, Auteur ; Heleen VAN 'T SPIJKER, Auteur ; Elize D. HAASDIJK, Auteur ; David J. COX, Auteur ; Sureyya OZCAN, Auteur ; Gert W.A. VAN CAPPELLEN, Auteur ; Adriaan B. HOUTSMULLER, Auteur ; Rob WILLEMSEN, Auteur ; Chris I. DE ZEEUW, Auteur ; Sabine BAHN, Auteur Article en page(s) : 17p. Langues : Anglais (eng) Mots-clés : Animals  Animals, Congenic  Cells, Cultured  Cerebellum/pathology/physiopathology  Fluorescent Dyes  Fragile X Mental Retardation Protein/genetics/physiology  Fragile X Syndrome/genetics/metabolism/physiopathology  Hippocampus/pathology/physiopathology  Intravital Microscopy  Male  Mass Spectrometry/methods  Mice  Mice, Inbred C57BL  Mice, Knockout  Mice, Neurologic Mutants  Microscopy, Electron  Models, Animal  Nerve Tissue Proteins/analysis  Presynaptic Terminals/secretion  Proteome  Purkinje Cells/physiology/ultrastructure  Pyridinium Compounds  Quaternary Ammonium Compounds  Signal Transduction  Synaptic Transmission  Synaptic Vesicles/metabolism  Synaptosomes/metabolism  Electron microscopy  Fragile X syndrome (FXS)  Mass spectrometry (MS)  Quantitative live-cell imaging Index. décimale : PER Périodiques Résumé : BACKGROUND: Fragile X syndrome (FXS) is a single-gene disorder that is the most common heritable cause of intellectual disability and the most frequent monogenic cause of autism spectrum disorders (ASD). FXS is caused by an expansion of trinucleotide repeats in the promoter region of the fragile X mental retardation gene (Fmr1). This leads to a lack of fragile X mental retardation protein (FMRP), which regulates translation of a wide range of messenger RNAs (mRNAs). The extent of expression level alterations of synaptic proteins affected by FMRP loss and their consequences on synaptic dynamics in FXS has not been fully investigated. METHODS: Here, we used an Fmr1 knockout (KO) mouse model to investigate the molecular mechanisms underlying FXS by monitoring protein expression changes using shotgun label-free liquid-chromatography mass spectrometry (LC-MS(E)) in brain tissue and synaptosome fractions. FXS-associated candidate proteins were validated using selected reaction monitoring (SRM) in synaptosome fractions for targeted protein quantification. Furthermore, functional alterations in synaptic release and dynamics were evaluated using live-cell imaging, and interpretation of synaptic dynamics differences was investigated using electron microscopy. RESULTS: Key findings relate to altered levels of proteins involved in GABA-signalling, especially in the cerebellum. Further exploration using microscopy studies found reduced synaptic vesicle unloading of hippocampal neurons and increased vesicle unloading in cerebellar neurons, which suggests a general decrease of synaptic transmission. CONCLUSIONS: Our findings suggest that FMRP is a regulator of synaptic vesicle dynamics, which supports the role of FMRP in presynaptic functions. Taken together, these studies provide novel insights into the molecular changes associated with FXS. En ligne : http://dx.doi.org/10.1186/s13229-016-0080-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=328 [article] Synaptic vesicle dynamic changes in a model of fragile X [texte imprimé] / Jantine A.C. BROEK, Auteur ; Zhanmin LIN, Auteur ; H. Martijn DE GRUITER, Auteur ; Heleen VAN 'T SPIJKER, Auteur ; Elize D. HAASDIJK, Auteur ; David J. COX, Auteur ; Sureyya OZCAN, Auteur ; Gert W.A. VAN CAPPELLEN, Auteur ; Adriaan B. HOUTSMULLER, Auteur ; Rob WILLEMSEN, Auteur ; Chris I. DE ZEEUW, Auteur ; Sabine BAHN, Auteur . - 17p. Langues : Anglais (eng) in Molecular Autism > 7 (2016) . - 17p. Mots-clés : Animals  Animals, Congenic  Cells, Cultured  Cerebellum/pathology/physiopathology  Fluorescent Dyes  Fragile X Mental Retardation Protein/genetics/physiology  Fragile X Syndrome/genetics/metabolism/physiopathology  Hippocampus/pathology/physiopathology  Intravital Microscopy  Male  Mass Spectrometry/methods  Mice  Mice, Inbred C57BL  Mice, Knockout  Mice, Neurologic Mutants  Microscopy, Electron  Models, Animal  Nerve Tissue Proteins/analysis  Presynaptic Terminals/secretion  Proteome  Purkinje Cells/physiology/ultrastructure  Pyridinium Compounds  Quaternary Ammonium Compounds  Signal Transduction  Synaptic Transmission  Synaptic Vesicles/metabolism  Synaptosomes/metabolism  Electron microscopy  Fragile X syndrome (FXS)  Mass spectrometry (MS)  Quantitative live-cell imaging Index. décimale : PER Périodiques Résumé : BACKGROUND: Fragile X syndrome (FXS) is a single-gene disorder that is the most common heritable cause of intellectual disability and the most frequent monogenic cause of autism spectrum disorders (ASD). FXS is caused by an expansion of trinucleotide repeats in the promoter region of the fragile X mental retardation gene (Fmr1). This leads to a lack of fragile X mental retardation protein (FMRP), which regulates translation of a wide range of messenger RNAs (mRNAs). The extent of expression level alterations of synaptic proteins affected by FMRP loss and their consequences on synaptic dynamics in FXS has not been fully investigated. METHODS: Here, we used an Fmr1 knockout (KO) mouse model to investigate the molecular mechanisms underlying FXS by monitoring protein expression changes using shotgun label-free liquid-chromatography mass spectrometry (LC-MS(E)) in brain tissue and synaptosome fractions. FXS-associated candidate proteins were validated using selected reaction monitoring (SRM) in synaptosome fractions for targeted protein quantification. Furthermore, functional alterations in synaptic release and dynamics were evaluated using live-cell imaging, and interpretation of synaptic dynamics differences was investigated using electron microscopy. RESULTS: Key findings relate to altered levels of proteins involved in GABA-signalling, especially in the cerebellum. Further exploration using microscopy studies found reduced synaptic vesicle unloading of hippocampal neurons and increased vesicle unloading in cerebellar neurons, which suggests a general decrease of synaptic transmission. CONCLUSIONS: Our findings suggest that FMRP is a regulator of synaptic vesicle dynamics, which supports the role of FMRP in presynaptic functions. Taken together, these studies provide novel insights into the molecular changes associated with FXS. En ligne : http://dx.doi.org/10.1186/s13229-016-0080-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=328

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