Abnormal sleep physiology in children with 15q11.2-13.1 duplication (Dup15q) syndrome / Vidya SARAVANAPANDIAN in Molecular Autism, 12 (2021)  

Public ISBD [article]  inMolecular Autism > 12 (2021) . - 54 p. Titre : Abnormal sleep physiology in children with 15q11.2-13.1 duplication (Dup15q) syndrome Type de document : texte imprimé Auteurs : Vidya SARAVANAPANDIAN, Auteur ; Divya NADKARNI, Auteur ; Sheng-Hsiou HSU, Auteur ; Shaun A. HUSSAIN, Auteur ; Kiran MASKI, Auteur ; Peyman GOLSHANI, Auteur ; Christopher S. COLWELL, Auteur ; Saravanavel BALASUBRAMANIAN, Auteur ; Amos DIXON, Auteur ; Daniel H. GESCHWIND, Auteur ; Shafali S. JESTE, Auteur Article en page(s) : 54 p. Langues : Anglais (eng) Mots-clés : Autism  Biomarkers  Dup15q syndrome  Eeg  Gabaar  Sleep  Slow wave sleep  Spindles  UBE3A  Hoffmann-La Roche Ltd. and Yamo Pharmaceuticals. All the other authors declare that  they have no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Sleep disturbances in autism spectrum disorder (ASD) represent a common and vexing comorbidity. Clinical heterogeneity amongst these warrants studies of the mechanisms associated with specific genetic etiologies. Duplications of 15q11.2-13.1 (Dup15q syndrome) are highly penetrant for neurodevelopmental disorders (NDDs) such as intellectual disability and ASD, as well as sleep disturbances. Genes in the 15q region, particularly UBE3A and a cluster of GABA(A) receptor genes, are critical for neural development, synaptic protein synthesis and degradation, and inhibitory neurotransmission. During awake electroencephalography (EEG), children with Dup15q syndrome demonstrate increased beta band oscillations (12-30 Hz) that likely reflect aberrant GABAergic neurotransmission. Healthy sleep rhythms, necessary for robust cognitive development, are also highly dependent on GABAergic neurotransmission. We therefore hypothesized that sleep physiology would be abnormal in children with Dup15q syndrome. METHODS: To test the hypothesis that elevated beta oscillations persist in sleep in Dup15q syndrome and that NREM sleep rhythms would be disrupted, we computed: (1) beta power, (2) spindle density, and (3) percentage of slow-wave sleep (SWS) in overnight sleep EEG recordings from a cohort of children with Dup15q syndrome (n = 15) and compared them to age-matched neurotypical children (n = 12). RESULTS: Children with Dup15q syndrome showed abnormal sleep physiology with elevated beta power, reduced spindle density, and reduced or absent SWS compared to age-matched neurotypical controls. LIMITATIONS: This study relied on clinical EEG where sleep staging was not available. However, considering that clinical polysomnograms are challenging to collect in this population, the ability to quantify these biomarkers on clinical EEG-routinely ordered for epilepsy monitoring-opens the door for larger-scale studies. While comparable to other human studies in rare genetic disorders, a larger sample would allow for examination of the role of seizure severity, medications, and developmental age that may impact sleep physiology. CONCLUSIONS: We have identified three quantitative EEG biomarkers of sleep disruption in Dup15q syndrome, a genetic condition highly penetrant for ASD. Insights from this study not only promote a greater mechanistic understanding of the pathophysiology defining Dup15q syndrome, but also lay the foundation for studies that investigate the association between sleep and cognition. Abnormal sleep physiology may undermine healthy cognitive development and may serve as a quantifiable and modifiable target for behavioral and pharmacological interventions. En ligne : http://dx.doi.org/10.1186/s13229-021-00460-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=459 [article] Abnormal sleep physiology in children with 15q11.2-13.1 duplication (Dup15q) syndrome [texte imprimé] / Vidya SARAVANAPANDIAN, Auteur ; Divya NADKARNI, Auteur ; Sheng-Hsiou HSU, Auteur ; Shaun A. HUSSAIN, Auteur ; Kiran MASKI, Auteur ; Peyman GOLSHANI, Auteur ; Christopher S. COLWELL, Auteur ; Saravanavel BALASUBRAMANIAN, Auteur ; Amos DIXON, Auteur ; Daniel H. GESCHWIND, Auteur ; Shafali S. JESTE, Auteur . - 54 p. Langues : Anglais (eng) in Molecular Autism > 12 (2021) . - 54 p. Mots-clés : Autism  Biomarkers  Dup15q syndrome  Eeg  Gabaar  Sleep  Slow wave sleep  Spindles  UBE3A  Hoffmann-La Roche Ltd. and Yamo Pharmaceuticals. All the other authors declare that  they have no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Sleep disturbances in autism spectrum disorder (ASD) represent a common and vexing comorbidity. Clinical heterogeneity amongst these warrants studies of the mechanisms associated with specific genetic etiologies. Duplications of 15q11.2-13.1 (Dup15q syndrome) are highly penetrant for neurodevelopmental disorders (NDDs) such as intellectual disability and ASD, as well as sleep disturbances. Genes in the 15q region, particularly UBE3A and a cluster of GABA(A) receptor genes, are critical for neural development, synaptic protein synthesis and degradation, and inhibitory neurotransmission. During awake electroencephalography (EEG), children with Dup15q syndrome demonstrate increased beta band oscillations (12-30 Hz) that likely reflect aberrant GABAergic neurotransmission. Healthy sleep rhythms, necessary for robust cognitive development, are also highly dependent on GABAergic neurotransmission. We therefore hypothesized that sleep physiology would be abnormal in children with Dup15q syndrome. METHODS: To test the hypothesis that elevated beta oscillations persist in sleep in Dup15q syndrome and that NREM sleep rhythms would be disrupted, we computed: (1) beta power, (2) spindle density, and (3) percentage of slow-wave sleep (SWS) in overnight sleep EEG recordings from a cohort of children with Dup15q syndrome (n = 15) and compared them to age-matched neurotypical children (n = 12). RESULTS: Children with Dup15q syndrome showed abnormal sleep physiology with elevated beta power, reduced spindle density, and reduced or absent SWS compared to age-matched neurotypical controls. LIMITATIONS: This study relied on clinical EEG where sleep staging was not available. However, considering that clinical polysomnograms are challenging to collect in this population, the ability to quantify these biomarkers on clinical EEG-routinely ordered for epilepsy monitoring-opens the door for larger-scale studies. While comparable to other human studies in rare genetic disorders, a larger sample would allow for examination of the role of seizure severity, medications, and developmental age that may impact sleep physiology. CONCLUSIONS: We have identified three quantitative EEG biomarkers of sleep disruption in Dup15q syndrome, a genetic condition highly penetrant for ASD. Insights from this study not only promote a greater mechanistic understanding of the pathophysiology defining Dup15q syndrome, but also lay the foundation for studies that investigate the association between sleep and cognition. Abnormal sleep physiology may undermine healthy cognitive development and may serve as a quantifiable and modifiable target for behavioral and pharmacological interventions. En ligne : http://dx.doi.org/10.1186/s13229-021-00460-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=459

Attention Allocation During Exploration of Visual Arrays in ASD: Results from the ABC-CT Feasibility Study / Tawny TSANG in Journal of Autism and Developmental Disorders, 53-8 (August 2023)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 53-8 (August 2023) . - p.3220-3229 Titre : Attention Allocation During Exploration of Visual Arrays in ASD: Results from the ABC-CT Feasibility Study Type de document : texte imprimé Auteurs : Tawny TSANG, Auteur ; Adam J. NAPLES, Auteur ; Erin C. BARNEY, Auteur ; Minhang XIE, Auteur ; Raphael A. BERNIER, Auteur ; Geraldine DAWSON, Auteur ; James DZIURA, Auteur ; Susan FAJA, Auteur ; Shafali S. JESTE, Auteur ; James C. MCPARTLAND, Auteur ; Charles A. NELSON, Auteur ; Michael MURIAS, Auteur ; Helen SEOW, Auteur ; Catherine SUGAR, Auteur ; Sara J. WEBB, Auteur ; Frederick SHIC, Auteur ; Scott JOHNSON, Auteur Article en page(s) : p.3220-3229 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Visual exploration paradigms involving object arrays have been used to examine salience of social stimuli such as faces in ASD. Recent work suggests performance on these paradigms may associate with clinical features of ASD. We evaluate metrics from a visual exploration paradigm in 4-to-11-year-old children with ASD (n 23; 18 males) and typical development (TD; n 23; 13 males). Presented with arrays containing faces and nonsocial stimuli, children with ASD looked less at (p 0.002) and showed fewer fixations to (p 0.022) faces than TD children, and spent less time looking at each object on average (p 0.004). Attention to the screen and faces correlated positively with social and cognitive skills in the ASD group (ps < .05). This work furthers our understanding of objective measures of visual exploration in ASD and its potential for quantifying features of ASD. En ligne : https://doi.org/10.1007/s10803-022-05569-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=508 [article] Attention Allocation During Exploration of Visual Arrays in ASD: Results from the ABC-CT Feasibility Study [texte imprimé] / Tawny TSANG, Auteur ; Adam J. NAPLES, Auteur ; Erin C. BARNEY, Auteur ; Minhang XIE, Auteur ; Raphael A. BERNIER, Auteur ; Geraldine DAWSON, Auteur ; James DZIURA, Auteur ; Susan FAJA, Auteur ; Shafali S. JESTE, Auteur ; James C. MCPARTLAND, Auteur ; Charles A. NELSON, Auteur ; Michael MURIAS, Auteur ; Helen SEOW, Auteur ; Catherine SUGAR, Auteur ; Sara J. WEBB, Auteur ; Frederick SHIC, Auteur ; Scott JOHNSON, Auteur . - p.3220-3229. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 53-8 (August 2023) . - p.3220-3229 Index. décimale : PER Périodiques Résumé : Visual exploration paradigms involving object arrays have been used to examine salience of social stimuli such as faces in ASD. Recent work suggests performance on these paradigms may associate with clinical features of ASD. We evaluate metrics from a visual exploration paradigm in 4-to-11-year-old children with ASD (n 23; 18 males) and typical development (TD; n 23; 13 males). Presented with arrays containing faces and nonsocial stimuli, children with ASD looked less at (p 0.002) and showed fewer fixations to (p 0.022) faces than TD children, and spent less time looking at each object on average (p 0.004). Attention to the screen and faces correlated positively with social and cognitive skills in the ASD group (ps < .05). This work furthers our understanding of objective measures of visual exploration in ASD and its potential for quantifying features of ASD. En ligne : https://doi.org/10.1007/s10803-022-05569-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=508

Atypical cerebellar functional connectivity at 9 months of age predicts delayed socio-communicative profiles in infants at high and low risk for autism / Nana J. OKADA in Journal of Child Psychology and Psychiatry, 63-9 (September 2022)  

Public ISBD [article]  inJournal of Child Psychology and Psychiatry > 63-9 (September 2022) . - p.1002-1016 Titre : Atypical cerebellar functional connectivity at 9 months of age predicts delayed socio-communicative profiles in infants at high and low risk for autism Type de document : texte imprimé Auteurs : Nana J. OKADA, Auteur ; Janelle LIU, Auteur ; Tawny TSANG, Auteur ; Erin E. NOSCO, Auteur ; Nicole M. MCDONALD, Auteur ; Kaitlin K. CUMMINGS, Auteur ; Jiwon JUNG, Auteur ; Genevieve PATTERSON, Auteur ; Susan Y. BOOKHEIMER, Auteur ; Shulamite A. GREEN, Auteur ; Shafali S. JESTE, Auteur ; Mirella DAPRETTO, Auteur Article en page(s) : p.1002-1016 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/diagnostic imaging  Autistic Disorder  Cerebellum/diagnostic imaging  Communication  Humans  Infant  Magnetic Resonance Imaging  Autism spectrum disorder  fMRI  infancy  social communication Index. décimale : PER Périodiques Résumé : BACKGROUND: While the cerebellum is traditionally known for its role in sensorimotor control, emerging research shows that particular subregions, such as right Crus I (RCrusI), support language and social processing. Indeed, cerebellar atypicalities are commonly reported in autism spectrum disorder (ASD), a neurodevelopmental disorder characterized by socio-communicative impairments. However, the cerebellum's contribution to early socio-communicative development remains virtually unknown. METHODS: Here, we characterized functional connectivity within cerebro-cerebellar networks implicated in language/social functions in 9-month-old infants who exhibit distinct 3-year socio-communicative developmental profiles. We employed a data-driven clustering approach to stratify our sample of infants at high (n=82) and low (n=37) familial risk for ASD into three cohorts-Delayed, Late-Blooming, and Typical-who showed unique socio-communicative trajectories. We then compared the cohorts on indices of language and social development. Seed-based functional connectivity analyses with RCrusI were conducted on infants with fMRI data (n=66). Cohorts were compared on connectivity estimates from a-priori regions, selected on the basis of reported coactivation with RCrusI during language/social tasks. RESULTS: The three trajectory-based cohorts broadly differed in social communication development, as evidenced by robust differences on numerous indices of language and social skills. Importantly, at 9months, the cohorts showed striking differences in cerebro-cerebellar circuits implicated in language/social functions. For all regions examined, the Delayed cohort exhibited significantly weaker RCrusI connectivity compared to both the Late-Blooming and Typical cohorts, with no significant differences between the latter cohorts. CONCLUSIONS: We show that hypoconnectivity within distinct cerebro-cerebellar networks in infancy predicts altered socio-communicative development before delays overtly manifest, which may be relevant for early detection and intervention. As the cerebellum is implicated in prediction, our findings point to probabilistic learning as a potential intermediary mechanism that may be disrupted in infancy, cascading into alterations in social communication. En ligne : http://dx.doi.org/10.1111/jcpp.13555 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=486 [article] Atypical cerebellar functional connectivity at 9 months of age predicts delayed socio-communicative profiles in infants at high and low risk for autism [texte imprimé] / Nana J. OKADA, Auteur ; Janelle LIU, Auteur ; Tawny TSANG, Auteur ; Erin E. NOSCO, Auteur ; Nicole M. MCDONALD, Auteur ; Kaitlin K. CUMMINGS, Auteur ; Jiwon JUNG, Auteur ; Genevieve PATTERSON, Auteur ; Susan Y. BOOKHEIMER, Auteur ; Shulamite A. GREEN, Auteur ; Shafali S. JESTE, Auteur ; Mirella DAPRETTO, Auteur . - p.1002-1016. Langues : Anglais (eng) in Journal of Child Psychology and Psychiatry > 63-9 (September 2022) . - p.1002-1016 Mots-clés : Autism Spectrum Disorder/diagnostic imaging  Autistic Disorder  Cerebellum/diagnostic imaging  Communication  Humans  Infant  Magnetic Resonance Imaging  Autism spectrum disorder  fMRI  infancy  social communication Index. décimale : PER Périodiques Résumé : BACKGROUND: While the cerebellum is traditionally known for its role in sensorimotor control, emerging research shows that particular subregions, such as right Crus I (RCrusI), support language and social processing. Indeed, cerebellar atypicalities are commonly reported in autism spectrum disorder (ASD), a neurodevelopmental disorder characterized by socio-communicative impairments. However, the cerebellum's contribution to early socio-communicative development remains virtually unknown. METHODS: Here, we characterized functional connectivity within cerebro-cerebellar networks implicated in language/social functions in 9-month-old infants who exhibit distinct 3-year socio-communicative developmental profiles. We employed a data-driven clustering approach to stratify our sample of infants at high (n=82) and low (n=37) familial risk for ASD into three cohorts-Delayed, Late-Blooming, and Typical-who showed unique socio-communicative trajectories. We then compared the cohorts on indices of language and social development. Seed-based functional connectivity analyses with RCrusI were conducted on infants with fMRI data (n=66). Cohorts were compared on connectivity estimates from a-priori regions, selected on the basis of reported coactivation with RCrusI during language/social tasks. RESULTS: The three trajectory-based cohorts broadly differed in social communication development, as evidenced by robust differences on numerous indices of language and social skills. Importantly, at 9months, the cohorts showed striking differences in cerebro-cerebellar circuits implicated in language/social functions. For all regions examined, the Delayed cohort exhibited significantly weaker RCrusI connectivity compared to both the Late-Blooming and Typical cohorts, with no significant differences between the latter cohorts. CONCLUSIONS: We show that hypoconnectivity within distinct cerebro-cerebellar networks in infancy predicts altered socio-communicative development before delays overtly manifest, which may be relevant for early detection and intervention. As the cerebellum is implicated in prediction, our findings point to probabilistic learning as a potential intermediary mechanism that may be disrupted in infancy, cascading into alterations in social communication. En ligne : http://dx.doi.org/10.1111/jcpp.13555 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=486

Atypical early neural responses to native and non-native language in infants at high likelihood for developing autism / Megan BANCHIK ; Tawny TSANG ; Nana J. OKADA ; Rebecca ALTSHULER ; Nicole M. MCDONALD ; Susan Y. BOOKHEIMER ; Shafali S. JESTE ; Shulamite A. GREEN ; Mirella DAPRETTO in Molecular Autism, 16 (2025)  

Public ISBD [article]  inMolecular Autism > 16 (2025) . - 6 Titre : Atypical early neural responses to native and non-native language in infants at high likelihood for developing autism Type de document : texte imprimé Auteurs : Megan BANCHIK, Auteur ; Tawny TSANG, Auteur ; Nana J. OKADA, Auteur ; Rebecca ALTSHULER, Auteur ; Nicole M. MCDONALD, Auteur ; Susan Y. BOOKHEIMER, Auteur ; Shafali S. JESTE, Auteur ; Shulamite A. GREEN, Auteur ; Mirella DAPRETTO, Auteur Article en page(s) : 6 Langues : Anglais (eng) Mots-clés : Humans  Infant  Male  Magnetic Resonance Imaging  Female  Language  Autism Spectrum Disorder/physiopathology/diagnostic imaging  Brain/diagnostic imaging/physiopathology  Autistic Disorder/physiopathology  Brain Mapping  Speech  Autism  Native language  fMRI  obtained from all participants' caregivers and/or legal guardians. All study  protocols were approved by the UCLA Institutional Review Board. Consent for  publication: Not applicable. Competing interests: The authors declare no  competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Language difficulties are common in autism spectrum disorder (ASD), a neurodevelopmental condition characterized by impairments in social communication as well as restricted and repetitive behaviors. Amongst infant siblings of children with an ASD diagnosis - who are at higher likelihood for developing ASD - a high proportion also show difficulties and delays in language acquisition. METHODS: In this study, we used functional magnetic resonance imaging (fMRI) to examine differences in language processing in 9-month-old infants at high (HL) and typical (TL) familial likelihood for ASD. Infants were presented with native (English) and novel (Japanese) speech while sleeping naturally in the scanner. Whole-brain and a priori region-of-interest analyses were conducted to evaluate neural differences in language processing based on likelihood group and language condition. RESULTS: HL infants showed attenuated responses to speech in general, particularly in left temporal language areas, as well as a lack of neural discrimination between the native and novel languages compared to the TL group. Importantly, we also demonstrate that HL infants show distinctly atypical patterns of lateralization for speech processing, particularly during native speech processing, suggesting a failure to left-lateralize. LIMITATIONS: The sample size, particularly for the TL group, is relatively modest because of the challenges inherent to collecting auditory stimulus-evoked data from sleeping participants, as well as retention and follow-up difficulties posed by the COVID-19 pandemic. The groups were not matched on some demographic variables, but the present findings held even after accounting for these differences. CONCLUSIONS: To our knowledge, this is the first fMRI study to directly measure autism-associated atypicalities in native language uptake during infancy. These findings provide a better understanding of the neurodevelopmental underpinnings of language delay in ASD, which is a prerequisite step for developing earlier and more effective interventions for autistic children and HL siblings who experience language impairments. En ligne : https://dx.doi.org/10.1186/s13229-025-00640-w Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=555 [article] Atypical early neural responses to native and non-native language in infants at high likelihood for developing autism [texte imprimé] / Megan BANCHIK, Auteur ; Tawny TSANG, Auteur ; Nana J. OKADA, Auteur ; Rebecca ALTSHULER, Auteur ; Nicole M. MCDONALD, Auteur ; Susan Y. BOOKHEIMER, Auteur ; Shafali S. JESTE, Auteur ; Shulamite A. GREEN, Auteur ; Mirella DAPRETTO, Auteur . - 6. Langues : Anglais (eng) in Molecular Autism > 16 (2025) . - 6 Mots-clés : Humans  Infant  Male  Magnetic Resonance Imaging  Female  Language  Autism Spectrum Disorder/physiopathology/diagnostic imaging  Brain/diagnostic imaging/physiopathology  Autistic Disorder/physiopathology  Brain Mapping  Speech  Autism  Native language  fMRI  obtained from all participants' caregivers and/or legal guardians. All study  protocols were approved by the UCLA Institutional Review Board. Consent for  publication: Not applicable. Competing interests: The authors declare no  competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Language difficulties are common in autism spectrum disorder (ASD), a neurodevelopmental condition characterized by impairments in social communication as well as restricted and repetitive behaviors. Amongst infant siblings of children with an ASD diagnosis - who are at higher likelihood for developing ASD - a high proportion also show difficulties and delays in language acquisition. METHODS: In this study, we used functional magnetic resonance imaging (fMRI) to examine differences in language processing in 9-month-old infants at high (HL) and typical (TL) familial likelihood for ASD. Infants were presented with native (English) and novel (Japanese) speech while sleeping naturally in the scanner. Whole-brain and a priori region-of-interest analyses were conducted to evaluate neural differences in language processing based on likelihood group and language condition. RESULTS: HL infants showed attenuated responses to speech in general, particularly in left temporal language areas, as well as a lack of neural discrimination between the native and novel languages compared to the TL group. Importantly, we also demonstrate that HL infants show distinctly atypical patterns of lateralization for speech processing, particularly during native speech processing, suggesting a failure to left-lateralize. LIMITATIONS: The sample size, particularly for the TL group, is relatively modest because of the challenges inherent to collecting auditory stimulus-evoked data from sleeping participants, as well as retention and follow-up difficulties posed by the COVID-19 pandemic. The groups were not matched on some demographic variables, but the present findings held even after accounting for these differences. CONCLUSIONS: To our knowledge, this is the first fMRI study to directly measure autism-associated atypicalities in native language uptake during infancy. These findings provide a better understanding of the neurodevelopmental underpinnings of language delay in ASD, which is a prerequisite step for developing earlier and more effective interventions for autistic children and HL siblings who experience language impairments. En ligne : https://dx.doi.org/10.1186/s13229-025-00640-w Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=555

Autism Spectrum Disorders Versus Genetic Syndromes / Shafali S. JESTE

Public ISBD in Differential diagnosis of autism spectrum disorder / Katherine K.M. STAVROPOULOS Titre : Autism Spectrum Disorders Versus Genetic Syndromes Type de document : texte imprimé Auteurs : Shafali S. JESTE, Auteur Année de publication : 2022 Importance : p.195-215 Langues : Anglais (eng) Index. décimale : AUT-D AUT-D - L'Autisme - Dépistage et Diagnostic Résumé : Approximately 25% of neurodevelopmental disorders, including intellectual disability and autism spectrum disorder, are caused by rare genetic variants and mutations. In fact, genetic testing is the gold standard medical workup for all individuals with an autism spectrum disorder. With the advances in genetic testing, new genes are being discovered daily. This chapter discusses the basis of genetic abnormalities in neurodevelopmental disorders, reviews clinical features of specific neurogenetic conditions, and outlines the current recommendations for genetic testing of individuals with neurodevelopmental disorders. The importance of identifying a neurodevelopmental condition, regardless of the underlying genetic etiology, is emphasized, with the goal of leveraging the support of patient advocacy groups, understanding clinical prognosis, and accessing appropriate, often targeted interventions. The chapter concludes with discussion about the promise of precision health for these genetic syndromes and the need for rigorous studies to improve clinical trial readiness. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=528 in Differential diagnosis of autism spectrum disorder / Katherine K.M. STAVROPOULOS Autism Spectrum Disorders Versus Genetic Syndromes [texte imprimé] / Shafali S. JESTE, Auteur . - 2022 . - p.195-215. Langues : Anglais (eng) Index. décimale : AUT-D AUT-D - L'Autisme - Dépistage et Diagnostic Résumé : Approximately 25% of neurodevelopmental disorders, including intellectual disability and autism spectrum disorder, are caused by rare genetic variants and mutations. In fact, genetic testing is the gold standard medical workup for all individuals with an autism spectrum disorder. With the advances in genetic testing, new genes are being discovered daily. This chapter discusses the basis of genetic abnormalities in neurodevelopmental disorders, reviews clinical features of specific neurogenetic conditions, and outlines the current recommendations for genetic testing of individuals with neurodevelopmental disorders. The importance of identifying a neurodevelopmental condition, regardless of the underlying genetic etiology, is emphasized, with the goal of leveraging the support of patient advocacy groups, understanding clinical prognosis, and accessing appropriate, often targeted interventions. The chapter concludes with discussion about the promise of precision health for these genetic syndromes and the need for rigorous studies to improve clinical trial readiness. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=528

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