Clinical determinants of psychiatric care in genetic neurodevelopmental disorders: a cross-sectional analysis / David J. ADAMS in Journal of Neurodevelopmental Disorders, 17 (2025)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 17 (2025) Titre : Clinical determinants of psychiatric care in genetic neurodevelopmental disorders: a cross-sectional analysis Type de document : texte imprimé Auteurs : David J. ADAMS, Auteur ; Alexandra M. KLOMHAUS, Auteur ; Nicole R. WONG, Auteur ; Benjamin N. SCHNEIDER, Auteur ; Charlotte DISTEFANO, Auteur ; Sunil MEHTA, Auteur ; Rujuta B. WILSON, Auteur ; Julian A. MARTINEZ-AGOSTO, Auteur ; Shafali S. JESTE, Auteur ; Aaron D. BESTERMAN, Auteur Langues : Anglais (eng) Mots-clés : Genetic testing  Multidisciplinary care  Neurodevelopmental disorders  Neuropsychiatry  Precision medicine  granted by the UCLA Medical Institutional Review Board 3. One-hundred-ten  patients and/or their legal guardians provided informed consent for prospective  collection of clinical data (UCLA IRB#: 14-001908). With an IRB-approved waiver  of consent, the charts of an additional 206 patients were retrospectively  reviewed (UCLA IRB#: 19–000121). Consent for publication: Not applicable.  Competing interests: The authors declare no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: This study aims to identify clinical and developmental factors associated with psychotropic medication exposure and subspecialty psychiatric service utilization among patients with genetic neurodevelopmental disorders (GNDDs). METHODS: We conducted a retrospective analysis of 316 patients from the Care and Research in Neurogenetics (CARING) Clinic at the University of California, Los Angeles (UCLA). We assessed the association between neurodevelopmental and psychiatric diagnoses, behavioral histories, family history, and service utilization with two outcomes: (1) the number of psychotropic medication classes trialed before clinic intake and (2) whether the patient was evaluated by a CARING psychiatrist. Poisson and logistic regression models were used to evaluate associations while adjusting for demographic and clinical covariates. RESULTS: Individuals with more severe behavioral disturbances had higher psychiatric service needs, while intellectual disability was associated with greater psychotropic medication exposure but not increased psychiatric consultation, possibly due to prior community-based care. The presence of a pathogenic/likely pathogenic genetic variant was not associated with either outcome, suggesting that genetic diagnosis alone does not predict psychiatric needs. Instead, behavioral comorbidities, not genetic status, were the primary drivers of psychotropic use and psychiatric referrals. A history of developmental delay was negatively associated with psychiatric consultation, and mediation analyses indicated that early intervention services partly explained this relationship. Additionally, patients receiving behavioral therapies had higher psychotropic exposure, reflecting greater clinical complexity and frequent use of multimodal treatment strategies. CONCLUSIONS: Our findings suggest that psychiatric needs in GNDDs are more closely tied to behavioral comorbidities than to genetic diagnosis status, reinforcing the importance of symptom-driven psychiatric evaluation. The observed relationship between early developmental interventions and psychiatric service utilization warrants further longitudinal investigation. These results highlight opportunities to optimize psychiatric care pathways through early screening, integrated behavioral and pharmacologic interventions, and targeted resource allocation for individuals with neurodevelopmental disorders. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s11689-025-09654-0. En ligne : https://dx.doi.org/10.1186/s11689-025-09654-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576 [article] Clinical determinants of psychiatric care in genetic neurodevelopmental disorders: a cross-sectional analysis [texte imprimé] / David J. ADAMS, Auteur ; Alexandra M. KLOMHAUS, Auteur ; Nicole R. WONG, Auteur ; Benjamin N. SCHNEIDER, Auteur ; Charlotte DISTEFANO, Auteur ; Sunil MEHTA, Auteur ; Rujuta B. WILSON, Auteur ; Julian A. MARTINEZ-AGOSTO, Auteur ; Shafali S. JESTE, Auteur ; Aaron D. BESTERMAN, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 17 (2025) Mots-clés : Genetic testing  Multidisciplinary care  Neurodevelopmental disorders  Neuropsychiatry  Precision medicine  granted by the UCLA Medical Institutional Review Board 3. One-hundred-ten  patients and/or their legal guardians provided informed consent for prospective  collection of clinical data (UCLA IRB#: 14-001908). With an IRB-approved waiver  of consent, the charts of an additional 206 patients were retrospectively  reviewed (UCLA IRB#: 19–000121). Consent for publication: Not applicable.  Competing interests: The authors declare no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: This study aims to identify clinical and developmental factors associated with psychotropic medication exposure and subspecialty psychiatric service utilization among patients with genetic neurodevelopmental disorders (GNDDs). METHODS: We conducted a retrospective analysis of 316 patients from the Care and Research in Neurogenetics (CARING) Clinic at the University of California, Los Angeles (UCLA). We assessed the association between neurodevelopmental and psychiatric diagnoses, behavioral histories, family history, and service utilization with two outcomes: (1) the number of psychotropic medication classes trialed before clinic intake and (2) whether the patient was evaluated by a CARING psychiatrist. Poisson and logistic regression models were used to evaluate associations while adjusting for demographic and clinical covariates. RESULTS: Individuals with more severe behavioral disturbances had higher psychiatric service needs, while intellectual disability was associated with greater psychotropic medication exposure but not increased psychiatric consultation, possibly due to prior community-based care. The presence of a pathogenic/likely pathogenic genetic variant was not associated with either outcome, suggesting that genetic diagnosis alone does not predict psychiatric needs. Instead, behavioral comorbidities, not genetic status, were the primary drivers of psychotropic use and psychiatric referrals. A history of developmental delay was negatively associated with psychiatric consultation, and mediation analyses indicated that early intervention services partly explained this relationship. Additionally, patients receiving behavioral therapies had higher psychotropic exposure, reflecting greater clinical complexity and frequent use of multimodal treatment strategies. CONCLUSIONS: Our findings suggest that psychiatric needs in GNDDs are more closely tied to behavioral comorbidities than to genetic diagnosis status, reinforcing the importance of symptom-driven psychiatric evaluation. The observed relationship between early developmental interventions and psychiatric service utilization warrants further longitudinal investigation. These results highlight opportunities to optimize psychiatric care pathways through early screening, integrated behavioral and pharmacologic interventions, and targeted resource allocation for individuals with neurodevelopmental disorders. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s11689-025-09654-0. En ligne : https://dx.doi.org/10.1186/s11689-025-09654-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576

Communication growth in minimally verbal children with ASD: The importance of interaction / Charlotte DISTEFANO in Autism Research, 9-10 (October 2016)  

Public ISBD [article]  inAutism Research > 9-10 (October 2016) . - p.1093-1102 Titre : Communication growth in minimally verbal children with ASD: The importance of interaction Type de document : texte imprimé Auteurs : Charlotte DISTEFANO, Auteur ; Wendy SHIH, Auteur ; Ann P. KAISER, Auteur ; Rebecca LANDA, Auteur ; Connie KASARI, Auteur Article en page(s) : p.1093-1102 Langues : Anglais (eng) Mots-clés : minimally verbal  language  communication  intervention Index. décimale : PER Périodiques Résumé : Little is known about language development in children with Autism Spectrum Disorders (ASD) who remain minimally verbal past age 5. While there is evidence that children can develop language after age 5, we lack detailed information. Studies of this population generally focus on discrete language skills without addressing broader social-communication abilities. As communication and social deficits are both inherent to ASD, an examination of not only what language skills are acquired, but how those skills are used in interactions is relevant. Research in typical development has examined how communication interchanges (unbroken back-and-forth exchanges around a unified purpose) develop, which can be used as a framework for studying minimally verbal children. This study examined the interchange use by 55 children with ASD over the course of a 6-month play and engagement-based communication intervention. Half of the children received intervention sessions that also incorporated a speech-generating device (SGD). Interchanges were coded by: frequency, length, function, and initiator (child or adult). Results indicated that children initiated a large proportion of interchanges and this proportion increased over time. The average length and number of interchanges increased over time, with children in the SGD group showing even greater growth. Finally, children's total number of interchanges at baseline was positively associated with their spoken language gains over the course of intervention. This study supports the crucial relationship between social engagement and expressive language development, and highlights the need to include sustained communication interchanges as a target for intervention with this population. En ligne : http://dx.doi.org/10.1002/aur.1594 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=294 [article] Communication growth in minimally verbal children with ASD: The importance of interaction [texte imprimé] / Charlotte DISTEFANO, Auteur ; Wendy SHIH, Auteur ; Ann P. KAISER, Auteur ; Rebecca LANDA, Auteur ; Connie KASARI, Auteur . - p.1093-1102. Langues : Anglais (eng) in Autism Research > 9-10 (October 2016) . - p.1093-1102 Mots-clés : minimally verbal  language  communication  intervention Index. décimale : PER Périodiques Résumé : Little is known about language development in children with Autism Spectrum Disorders (ASD) who remain minimally verbal past age 5. While there is evidence that children can develop language after age 5, we lack detailed information. Studies of this population generally focus on discrete language skills without addressing broader social-communication abilities. As communication and social deficits are both inherent to ASD, an examination of not only what language skills are acquired, but how those skills are used in interactions is relevant. Research in typical development has examined how communication interchanges (unbroken back-and-forth exchanges around a unified purpose) develop, which can be used as a framework for studying minimally verbal children. This study examined the interchange use by 55 children with ASD over the course of a 6-month play and engagement-based communication intervention. Half of the children received intervention sessions that also incorporated a speech-generating device (SGD). Interchanges were coded by: frequency, length, function, and initiator (child or adult). Results indicated that children initiated a large proportion of interchanges and this proportion increased over time. The average length and number of interchanges increased over time, with children in the SGD group showing even greater growth. Finally, children's total number of interchanges at baseline was positively associated with their spoken language gains over the course of intervention. This study supports the crucial relationship between social engagement and expressive language development, and highlights the need to include sustained communication interchanges as a target for intervention with this population. En ligne : http://dx.doi.org/10.1002/aur.1594 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=294

Concomitant medication use in children with autism spectrum disorder: Data from the Autism Biomarkers Consortium for Clinical Trials / Logan SHURTZ in Autism, 27-4 (May 2023)  

Public ISBD [article]  inAutism > 27-4 (May 2023) . - p.952-966 Titre : Concomitant medication use in children with autism spectrum disorder: Data from the Autism Biomarkers Consortium for Clinical Trials Type de document : texte imprimé Auteurs : Logan SHURTZ, Auteur ; Chloe SCHWARTZ, Auteur ; Charlotte DISTEFANO, Auteur ; James C. MCPARTLAND, Auteur ; April R. LEVIN, Auteur ; Geraldine DAWSON, Auteur ; Natalia M. KLEINHANS, Auteur ; Susan FAJA, Auteur ; Sara J. WEBB, Auteur ; Frederick SHIC, Auteur ; Adam J. NAPLES, Auteur ; Helen SEOW, Auteur ; Raphael A. BERNIER, Auteur ; Katarzyna CHAWARSKA, Auteur ; Catherine A. SUGAR, Auteur ; James DZIURA, Auteur ; Damla SENTURK, Auteur ; Megha SANTHOSH, Auteur ; Shafali S. JESTE, Auteur Article en page(s) : p.952-966 Langues : Anglais (eng) Mots-clés : aberrant behavior checklist,antipsychotics,autism spectrum disorders,clinical trials,medications,Vineland Adaptive Behavior Scales Index. décimale : PER Périodiques Résumé : Children with autism spectrum disorder are prescribed various medications to address behavior and mood. In clinical trials, individuals taking concomitant psychotropic medications often are excluded to maintain homogeneity and prevent contamination of clinical endpoints. However, this choice may compromise the representativeness of the sample. In a recent study designed to identify biomarkers and endpoints for clinical trials (the Autism Biomarkers Consortium for Clinical Trials), school-age children with autism spectrum disorder were enrolled without excluding for medications, providing the opportunity to examine characteristics of psychotropic medication use and guide future decisions on medication-related inclusion criteria. The aims of the current analysis were (1) to quantify the frequency and type of psychotropic medications reported in school-age children enrolled in the study and (2) to examine behavioral features of children with autism spectrum disorder based on medication classes. Of the 280 children with autism spectrum disorder in the cohort, 42.5% were taking psychotropic medications, with polypharmacy in half. The most commonly reported psychotropic medications included melatonin, stimulants, selective serotonin reuptake inhibitors, alpha agonists, and antipsychotics. Our findings suggest that exclusion of children taking concomitant psychotropic medications could limit the representativeness of the study population, perhaps even excluding children who may most benefit from new treatment options.Lay abstractChildren with autism spectrum disorder are prescribed a variety of medications that affect the central nervous system (psychotropic medications) to address behavior and mood. In clinical trials, individuals taking concomitant psychotropic medications often are excluded to maintain homogeneity of the sample and prevent contamination of biomarkers or clinical endpoints. However, this choice may significantly diminish the clinical representativeness of the sample. In a recent multisite study designed to identify biomarkers and behavioral endpoints for clinical trials (the Autism Biomarkers Consortium for Clinical Trials), school-age children with autism spectrum disorder were enrolled without excluding for medications, thus providing a unique opportunity to examine characteristics of psychotropic medication use in a research cohort and to guide future decisions on medication-related inclusion criteria. The aims of the current analysis were (1) to quantify the frequency and type of psychotropic medications reported in school-age children enrolled in the ABC-CT and (2) to examine behavioral features of children with autism spectrum disorder based on medication classes. Of the 280 children with autism spectrum disorder in the cohort, 42.5% were taking psychotropic medications, with polypharmacy in half of these children. The most commonly reported psychotropic medications included melatonin, stimulants, selective serotonin reuptake inhibitors, alpha agonists, and antipsychotics. Descriptive analysis showed that children taking antipsychotics displayed a trend toward greater overall impairment. Our findings suggest that exclusion of children taking concomitant psychotropic medications in trials could limit the clinical representativeness of the study population, perhaps even excluding children who may most benefit from new treatment options. En ligne : https://doi.org/10.1177/13623613221121425 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=499 [article] Concomitant medication use in children with autism spectrum disorder: Data from the Autism Biomarkers Consortium for Clinical Trials [texte imprimé] / Logan SHURTZ, Auteur ; Chloe SCHWARTZ, Auteur ; Charlotte DISTEFANO, Auteur ; James C. MCPARTLAND, Auteur ; April R. LEVIN, Auteur ; Geraldine DAWSON, Auteur ; Natalia M. KLEINHANS, Auteur ; Susan FAJA, Auteur ; Sara J. WEBB, Auteur ; Frederick SHIC, Auteur ; Adam J. NAPLES, Auteur ; Helen SEOW, Auteur ; Raphael A. BERNIER, Auteur ; Katarzyna CHAWARSKA, Auteur ; Catherine A. SUGAR, Auteur ; James DZIURA, Auteur ; Damla SENTURK, Auteur ; Megha SANTHOSH, Auteur ; Shafali S. JESTE, Auteur . - p.952-966. Langues : Anglais (eng) in Autism > 27-4 (May 2023) . - p.952-966 Mots-clés : aberrant behavior checklist,antipsychotics,autism spectrum disorders,clinical trials,medications,Vineland Adaptive Behavior Scales Index. décimale : PER Périodiques Résumé : Children with autism spectrum disorder are prescribed various medications to address behavior and mood. In clinical trials, individuals taking concomitant psychotropic medications often are excluded to maintain homogeneity and prevent contamination of clinical endpoints. However, this choice may compromise the representativeness of the sample. In a recent study designed to identify biomarkers and endpoints for clinical trials (the Autism Biomarkers Consortium for Clinical Trials), school-age children with autism spectrum disorder were enrolled without excluding for medications, providing the opportunity to examine characteristics of psychotropic medication use and guide future decisions on medication-related inclusion criteria. The aims of the current analysis were (1) to quantify the frequency and type of psychotropic medications reported in school-age children enrolled in the study and (2) to examine behavioral features of children with autism spectrum disorder based on medication classes. Of the 280 children with autism spectrum disorder in the cohort, 42.5% were taking psychotropic medications, with polypharmacy in half. The most commonly reported psychotropic medications included melatonin, stimulants, selective serotonin reuptake inhibitors, alpha agonists, and antipsychotics. Our findings suggest that exclusion of children taking concomitant psychotropic medications could limit the representativeness of the study population, perhaps even excluding children who may most benefit from new treatment options.Lay abstractChildren with autism spectrum disorder are prescribed a variety of medications that affect the central nervous system (psychotropic medications) to address behavior and mood. In clinical trials, individuals taking concomitant psychotropic medications often are excluded to maintain homogeneity of the sample and prevent contamination of biomarkers or clinical endpoints. However, this choice may significantly diminish the clinical representativeness of the sample. In a recent multisite study designed to identify biomarkers and behavioral endpoints for clinical trials (the Autism Biomarkers Consortium for Clinical Trials), school-age children with autism spectrum disorder were enrolled without excluding for medications, thus providing a unique opportunity to examine characteristics of psychotropic medication use in a research cohort and to guide future decisions on medication-related inclusion criteria. The aims of the current analysis were (1) to quantify the frequency and type of psychotropic medications reported in school-age children enrolled in the ABC-CT and (2) to examine behavioral features of children with autism spectrum disorder based on medication classes. Of the 280 children with autism spectrum disorder in the cohort, 42.5% were taking psychotropic medications, with polypharmacy in half of these children. The most commonly reported psychotropic medications included melatonin, stimulants, selective serotonin reuptake inhibitors, alpha agonists, and antipsychotics. Descriptive analysis showed that children taking antipsychotics displayed a trend toward greater overall impairment. Our findings suggest that exclusion of children taking concomitant psychotropic medications in trials could limit the clinical representativeness of the study population, perhaps even excluding children who may most benefit from new treatment options. En ligne : https://doi.org/10.1177/13623613221121425 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=499

Correction: The diagnostic journey of genetically defined neurodevelopmental disorders / Juliana SIMON in Journal of Neurodevelopmental Disorders, 15 (2023)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 15 (2023) Titre : Correction: The diagnostic journey of genetically defined neurodevelopmental disorders Type de document : texte imprimé Auteurs : Juliana SIMON, Auteur ; Carly HYDE, Auteur ; Vidya SARAVANAPANDIAN, Auteur ; Rujuta WILSON, Auteur ; Benjamin SCHNEIDER, Auteur ; Charlotte DISTEFANO, Auteur ; Aaron BESTERMAN, Auteur ; Shafali JESTE, Auteur Langues : Anglais (eng) Index. décimale : PER Périodiques En ligne : https://dx.doi.org/10.1186/s11689-023-09509-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Correction: The diagnostic journey of genetically defined neurodevelopmental disorders [texte imprimé] / Juliana SIMON, Auteur ; Carly HYDE, Auteur ; Vidya SARAVANAPANDIAN, Auteur ; Rujuta WILSON, Auteur ; Benjamin SCHNEIDER, Auteur ; Charlotte DISTEFANO, Auteur ; Aaron BESTERMAN, Auteur ; Shafali JESTE, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 15 (2023) Index. décimale : PER Périodiques En ligne : https://dx.doi.org/10.1186/s11689-023-09509-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Correction to: Mechanisms underlying the EEG biomarker in Dup15q syndrome / Joel 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 Auteurs : Joel FROHLICH, Auteur ; Lawrence T. REITER, Auteur ; Vidya SARAVANAPANDIAN, Auteur ; Charlotte DISTEFANO, Auteur ; Scott HUBERTY, Auteur ; Carly HYDE, Auteur ; Stormy J. CHAMBERLAIN, Auteur ; Carrie E. BEARDEN, Auteur ; Peyman GOLSHANI, Auteur ; Andrei IRIMIA, Auteur ; Richard W. OLSEN, Auteur ; Joerg F. HIPP, Auteur ; Shafali 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] / Joel FROHLICH, Auteur ; Lawrence T. REITER, Auteur ; Vidya SARAVANAPANDIAN, Auteur ; Charlotte DISTEFANO, Auteur ; Scott HUBERTY, Auteur ; Carly HYDE, Auteur ; Stormy J. CHAMBERLAIN, Auteur ; Carrie E. BEARDEN, Auteur ; Peyman GOLSHANI, Auteur ; Andrei IRIMIA, Auteur ; Richard W. OLSEN, Auteur ; Joerg F. HIPP, Auteur ; Shafali 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

EEG data collection in children with ASD: The role of state in data quality and spectral power / Charlotte DISTEFANO in Research in Autism Spectrum Disorders, 57 (January 2019)  

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

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

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Parents’ Adoption of Social Communication Intervention Strategies: Families Including Children with Autism Spectrum Disorder Who are Minimally Verbal / Stephanie Y. SHIRE in Journal of Autism and Developmental Disorders, 45-6 (June 2015)  

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The diagnostic journey of genetically defined neurodevelopmental disorders / Juliana SIMON in Journal of Neurodevelopmental Disorders, 14 (2022)  

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