Association between spectral electroencephalography power and autism risk and diagnosis in early development / S. HUBERTY in Autism Research, 14-7 (July 2021)  

Public ISBD [article]  inAutism Research > 14-7 (July 2021) . - p.1390-1403 Titre : Association between spectral electroencephalography power and autism risk and diagnosis in early development Type de document : Texte imprimé et/ou numérique Auteurs : S. HUBERTY, Auteur ; Virginia CARTER LENO, Auteur ; S. J. R. VAN NOORDT, Auteur ; Rachael BEDFORD, Auteur ; A. PICKLES, Auteur ; James A. DESJARDINS, Auteur ; S. J. WEBB, Auteur ; M. ELSABBAGH, Auteur Article en page(s) : p.1390-1403 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/diagnosis  Autistic Disorder  Brain  Child, Preschool  Electroencephalography  Humans  Infant  Siblings  Eeg  autism spectrum disorders  infants  siblings Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) has its origins in the atypical development of brain networks. Infants who are at high familial risk for, and later diagnosed with ASD, show atypical activity in multiple electroencephalography (EEG) oscillatory measures. However, infant-sibling studies are often constrained by small sample sizes. We used the International Infant EEG Data Integration Platform, a multi-site dataset with 432 participants, including 222 at high-risk for ASD, from whom repeated measurements of EEG were collected between the ages of 3-36?months. We applied a latent growth curve model to test whether familial risk status predicts developmental trajectories of spectral power across the first 3?years of life, and whether these trajectories predict ASD outcome. Change in spectral EEG power in all frequency bands occurred during the first 3?years of life. Familial risk, but not a later diagnosis of ASD, was associated with reduced power at 3?months, and a steeper developmental change between 3 and 36?months in nearly all absolute power bands. ASD outcome was not associated with absolute power intercept or slope. No associations were found between risk or outcome and relative power. This study applied an analytic approach not used in previous prospective biomarker studies of ASD, which was modeled to reflect the temporal relationship between genetic susceptibility, brain development, and ASD diagnosis. Trajectories of spectral power appear to be predicted by familial risk; however, spectral power does not predict diagnostic outcome above and beyond familial risk status. Discrepancies between current results and previous studies are discussed. LAY SUMMARY: Infants with an older sibling who is diagnosed with ASD are at increased risk of developing ASD themselves. This article tested whether EEG spectral power in the first year of life can predict whether these infants did or did not develop ASD. En ligne : http://dx.doi.org/10.1002/aur.2518 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=449 [article] Association between spectral electroencephalography power and autism risk and diagnosis in early development [Texte imprimé et/ou numérique] / S. HUBERTY, Auteur ; Virginia CARTER LENO, Auteur ; S. J. R. VAN NOORDT, Auteur ; Rachael BEDFORD, Auteur ; A. PICKLES, Auteur ; James A. DESJARDINS, Auteur ; S. J. WEBB, Auteur ; M. ELSABBAGH, Auteur . - p.1390-1403. Langues : Anglais (eng) in Autism Research > 14-7 (July 2021) . - p.1390-1403 Mots-clés : Autism Spectrum Disorder/diagnosis  Autistic Disorder  Brain  Child, Preschool  Electroencephalography  Humans  Infant  Siblings  Eeg  autism spectrum disorders  infants  siblings Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) has its origins in the atypical development of brain networks. Infants who are at high familial risk for, and later diagnosed with ASD, show atypical activity in multiple electroencephalography (EEG) oscillatory measures. However, infant-sibling studies are often constrained by small sample sizes. We used the International Infant EEG Data Integration Platform, a multi-site dataset with 432 participants, including 222 at high-risk for ASD, from whom repeated measurements of EEG were collected between the ages of 3-36?months. We applied a latent growth curve model to test whether familial risk status predicts developmental trajectories of spectral power across the first 3?years of life, and whether these trajectories predict ASD outcome. Change in spectral EEG power in all frequency bands occurred during the first 3?years of life. Familial risk, but not a later diagnosis of ASD, was associated with reduced power at 3?months, and a steeper developmental change between 3 and 36?months in nearly all absolute power bands. ASD outcome was not associated with absolute power intercept or slope. No associations were found between risk or outcome and relative power. This study applied an analytic approach not used in previous prospective biomarker studies of ASD, which was modeled to reflect the temporal relationship between genetic susceptibility, brain development, and ASD diagnosis. Trajectories of spectral power appear to be predicted by familial risk; however, spectral power does not predict diagnostic outcome above and beyond familial risk status. Discrepancies between current results and previous studies are discussed. LAY SUMMARY: Infants with an older sibling who is diagnosed with ASD are at increased risk of developing ASD themselves. This article tested whether EEG spectral power in the first year of life can predict whether these infants did or did not develop ASD. En ligne : http://dx.doi.org/10.1002/aur.2518 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=449

Correction to: Mechanisms underlying the EEG biomarker in Dup15q syndrome / J. FROHLICH in Molecular Autism, 10 (2019)  

Public ISBD [article]  inMolecular Autism > 10 (2019) . - 37 p. Titre : Correction to: Mechanisms underlying the EEG biomarker in Dup15q syndrome Type de document : Texte imprimé et/ou numérique Auteurs : J. FROHLICH, Auteur ; L. T. REITER, Auteur ; V. SARAVANAPANDIAN, Auteur ; C. DISTEFANO, Auteur ; S. HUBERTY, Auteur ; C. HYDE, Auteur ; S. CHAMBERLAIN, Auteur ; Carrie E. BEARDEN, Auteur ; P. GOLSHANI, Auteur ; A. IRIMIA, Auteur ; R. W. OLSEN, Auteur ; J. F. HIPP, Auteur ; S. S. JESTE, Auteur Article en page(s) : 37 p. Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : [This corrects the article DOI: 10.1186/s13229-019-0280-6.]. En ligne : http://dx.doi.org/10.1186/s13229-019-0288-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=414 [article] Correction to: Mechanisms underlying the EEG biomarker in Dup15q syndrome [Texte imprimé et/ou numérique] / J. FROHLICH, Auteur ; L. T. REITER, Auteur ; V. SARAVANAPANDIAN, Auteur ; C. DISTEFANO, Auteur ; S. HUBERTY, Auteur ; C. HYDE, Auteur ; S. CHAMBERLAIN, Auteur ; Carrie E. BEARDEN, Auteur ; P. GOLSHANI, Auteur ; A. IRIMIA, Auteur ; R. W. OLSEN, Auteur ; J. F. HIPP, Auteur ; S. S. JESTE, Auteur . - 37 p. Langues : Anglais (eng) in Molecular Autism > 10 (2019) . - 37 p. Index. décimale : PER Périodiques Résumé : [This corrects the article DOI: 10.1186/s13229-019-0280-6.]. En ligne : http://dx.doi.org/10.1186/s13229-019-0288-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=414

Identification of a distinct developmental and behavioral profile in children with Dup15q syndrome / C. DISTEFANO in Journal of Neurodevelopmental Disorders, 8-1 (December 2016)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 8-1 (December 2016) . - p.19 Titre : Identification of a distinct developmental and behavioral profile in children with Dup15q syndrome Type de document : Texte imprimé et/ou numérique Auteurs : C. DISTEFANO, Auteur ; A. GULSRUD, Auteur ; S. HUBERTY, Auteur ; Connie KASARI, Auteur ; E. COOK, Auteur ; L. T. REITER, Auteur ; R. THIBERT, Auteur ; S. S. JESTE, Auteur Article en page(s) : p.19 Langues : Anglais (eng) Mots-clés : Adaptive functioning  Autism spectrum disorder  Duplication 15q syndrome  Intellectual disability  Social communication Index. décimale : PER Périodiques Résumé : BACKGROUND: One of the most common genetic variants associated with autism spectrum disorder (ASD) are duplications of chromosome 15q11.2-q13.1 (Dup15q syndrome). To identify distinctive developmental and behavioral features in Dup15q syndrome, we examined the social communication, adaptive, and cognitive skills in clinic-referred subjects and compared the characteristics of children with Dup15q syndrome to age/IQ-matched children with non-syndromic ASD. Behavior and development were also analyzed within the Dup15q group for differences related to copy number or epilepsy. METHODS: Participants included 13 children with Dup15q syndrome and 13 children with non-syndromic ASD, matched on chronological and mental age, ages 22 months-12 years. In the Dup15q group, ten participants had isodicentric and three had interstitial duplications. Four children had active epilepsy (all isodicentric). Participants were assessed for verbal and non-verbal cognition, ASD characteristics based on the Autism Diagnostic Observation Schedule (ADOS), and adaptive function based on the Vineland Adaptive Behavior Scales (VABS). Group comparisons were performed between Dup15q and ASD participants, as well as within the Dup15q group based on duplication type and epilepsy status. RESULTS: All children with Dup15q syndrome met the criteria for ASD; ASD severity scores were significantly lower than children in the non-syndromic ASD group. ADOS profiles demonstrated a relative strength in items related to social interest. Children with Dup15q syndrome also demonstrated significantly more impairment in motor and daily living skills. Within the Dup15q group, children with epilepsy demonstrated significantly lower cognitive and adaptive function than those without epilepsy. CONCLUSIONS: The relative strength observed in social interest and responsiveness in the context of impaired motor skills represents an important avenue for intervention, including aggressive treatment of epilepsy, early and consistent focus on motor skills, and intervention targeting joint attention and language within a play context, in order to build on social interest to further develop social communication abilities. Longitudinal research beginning in early development will elucidate the temporal relationships between developmental domains and neurological comorbidities in these children at high risk for neurodevelopmental disorders. En ligne : http://dx.doi.org/10.1186/s11689-016-9152-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=348 [article] Identification of a distinct developmental and behavioral profile in children with Dup15q syndrome [Texte imprimé et/ou numérique] / C. DISTEFANO, Auteur ; A. GULSRUD, Auteur ; S. HUBERTY, Auteur ; Connie KASARI, Auteur ; E. COOK, Auteur ; L. T. REITER, Auteur ; R. THIBERT, Auteur ; S. S. JESTE, Auteur . - p.19. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 8-1 (December 2016) . - p.19 Mots-clés : Adaptive functioning  Autism spectrum disorder  Duplication 15q syndrome  Intellectual disability  Social communication Index. décimale : PER Périodiques Résumé : BACKGROUND: One of the most common genetic variants associated with autism spectrum disorder (ASD) are duplications of chromosome 15q11.2-q13.1 (Dup15q syndrome). To identify distinctive developmental and behavioral features in Dup15q syndrome, we examined the social communication, adaptive, and cognitive skills in clinic-referred subjects and compared the characteristics of children with Dup15q syndrome to age/IQ-matched children with non-syndromic ASD. Behavior and development were also analyzed within the Dup15q group for differences related to copy number or epilepsy. METHODS: Participants included 13 children with Dup15q syndrome and 13 children with non-syndromic ASD, matched on chronological and mental age, ages 22 months-12 years. In the Dup15q group, ten participants had isodicentric and three had interstitial duplications. Four children had active epilepsy (all isodicentric). Participants were assessed for verbal and non-verbal cognition, ASD characteristics based on the Autism Diagnostic Observation Schedule (ADOS), and adaptive function based on the Vineland Adaptive Behavior Scales (VABS). Group comparisons were performed between Dup15q and ASD participants, as well as within the Dup15q group based on duplication type and epilepsy status. RESULTS: All children with Dup15q syndrome met the criteria for ASD; ASD severity scores were significantly lower than children in the non-syndromic ASD group. ADOS profiles demonstrated a relative strength in items related to social interest. Children with Dup15q syndrome also demonstrated significantly more impairment in motor and daily living skills. Within the Dup15q group, children with epilepsy demonstrated significantly lower cognitive and adaptive function than those without epilepsy. CONCLUSIONS: The relative strength observed in social interest and responsiveness in the context of impaired motor skills represents an important avenue for intervention, including aggressive treatment of epilepsy, early and consistent focus on motor skills, and intervention targeting joint attention and language within a play context, in order to build on social interest to further develop social communication abilities. Longitudinal research beginning in early development will elucidate the temporal relationships between developmental domains and neurological comorbidities in these children at high risk for neurodevelopmental disorders. En ligne : http://dx.doi.org/10.1186/s11689-016-9152-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=348

Mechanisms underlying the EEG biomarker in Dup15q syndrome / J. FROHLICH in Molecular Autism, 10 (2019)  

Public ISBD [article]  inMolecular Autism > 10 (2019) . - 29 p. Titre : Mechanisms underlying the EEG biomarker in Dup15q syndrome Type de document : Texte imprimé et/ou numérique Auteurs : J. FROHLICH, Auteur ; L. T. REITER, Auteur ; V. SARAVANAPANDIAN, Auteur ; C. DISTEFANO, Auteur ; S. HUBERTY, Auteur ; C. HYDE, Auteur ; S. CHAMBERLAIN, Auteur ; Carrie E. BEARDEN, Auteur ; P. GOLSHANI, Auteur ; A. IRIMIA, Auteur ; R. W. OLSEN, Auteur ; J. F. HIPP, Auteur ; S. S. JESTE, Auteur Article en page(s) : 29 p. Langues : Anglais (eng) Mots-clés : Autism  Biomarkers  Dup15q syndrome  Eeg  Gaba  Gabra5  Gabrb3  Gabrg3  Neurodevelopmental disorders  UBE3A Index. décimale : PER Périodiques Résumé : Background: Duplications of 15q11.2-q13.1 (Dup15q syndrome), including the paternally imprinted gene UBE3A and three nonimprinted gamma-aminobutyric acid type-A (GABAA) receptor genes, are highly penetrant for neurodevelopmental disorders such as autism spectrum disorder (ASD). To guide targeted treatments of Dup15q syndrome and other forms of ASD, biomarkers are needed that reflect molecular mechanisms of pathology. We recently described a beta EEG phenotype of Dup15q syndrome, but it remains unknown which specific genes drive this phenotype. Methods: To test the hypothesis that UBE3A overexpression is not necessary for the beta EEG phenotype, we compared EEG from a reference cohort of children with Dup15q syndrome (n = 27) to (1) the pharmacological effects of the GABAA modulator midazolam (n = 12) on EEG from healthy adults, (2) EEG from typically developing (TD) children (n = 14), and (3) EEG from two children with duplications of paternal 15q (i.e., the UBE3A-silenced allele). Results: Peak beta power was significantly increased in the reference cohort relative to TD controls. Midazolam administration recapitulated the beta EEG phenotype in healthy adults with a similar peak frequency in central channels (f = 23.0 Hz) as Dup15q syndrome (f = 23.1 Hz). Both paternal Dup15q syndrome cases displayed beta power comparable to the reference cohort. Conclusions: Our results suggest a critical role for GABAergic transmission in the Dup15q syndrome beta EEG phenotype, which cannot be explained by UBE3A dysfunction alone. If this mechanism is confirmed, the phenotype may be used as a marker of GABAergic pathology in clinical trials for Dup15q syndrome. En ligne : https://dx.doi.org/10.1186/s13229-019-0280-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=408 [article] Mechanisms underlying the EEG biomarker in Dup15q syndrome [Texte imprimé et/ou numérique] / J. FROHLICH, Auteur ; L. T. REITER, Auteur ; V. SARAVANAPANDIAN, Auteur ; C. DISTEFANO, Auteur ; S. HUBERTY, Auteur ; C. HYDE, Auteur ; S. CHAMBERLAIN, Auteur ; Carrie E. BEARDEN, Auteur ; P. GOLSHANI, Auteur ; A. IRIMIA, Auteur ; R. W. OLSEN, Auteur ; J. F. HIPP, Auteur ; S. S. JESTE, Auteur . - 29 p. Langues : Anglais (eng) in Molecular Autism > 10 (2019) . - 29 p. Mots-clés : Autism  Biomarkers  Dup15q syndrome  Eeg  Gaba  Gabra5  Gabrb3  Gabrg3  Neurodevelopmental disorders  UBE3A Index. décimale : PER Périodiques Résumé : Background: Duplications of 15q11.2-q13.1 (Dup15q syndrome), including the paternally imprinted gene UBE3A and three nonimprinted gamma-aminobutyric acid type-A (GABAA) receptor genes, are highly penetrant for neurodevelopmental disorders such as autism spectrum disorder (ASD). To guide targeted treatments of Dup15q syndrome and other forms of ASD, biomarkers are needed that reflect molecular mechanisms of pathology. We recently described a beta EEG phenotype of Dup15q syndrome, but it remains unknown which specific genes drive this phenotype. Methods: To test the hypothesis that UBE3A overexpression is not necessary for the beta EEG phenotype, we compared EEG from a reference cohort of children with Dup15q syndrome (n = 27) to (1) the pharmacological effects of the GABAA modulator midazolam (n = 12) on EEG from healthy adults, (2) EEG from typically developing (TD) children (n = 14), and (3) EEG from two children with duplications of paternal 15q (i.e., the UBE3A-silenced allele). Results: Peak beta power was significantly increased in the reference cohort relative to TD controls. Midazolam administration recapitulated the beta EEG phenotype in healthy adults with a similar peak frequency in central channels (f = 23.0 Hz) as Dup15q syndrome (f = 23.1 Hz). Both paternal Dup15q syndrome cases displayed beta power comparable to the reference cohort. Conclusions: Our results suggest a critical role for GABAergic transmission in the Dup15q syndrome beta EEG phenotype, which cannot be explained by UBE3A dysfunction alone. If this mechanism is confirmed, the phenotype may be used as a marker of GABAergic pathology in clinical trials for Dup15q syndrome. En ligne : https://dx.doi.org/10.1186/s13229-019-0280-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=408

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