Adults with autism spectrum disorder and the criminal justice system: An investigation of prevalence of contact with the criminal justice system, risk factors and sex differences in a specialist assessment service / Charlotte E. BLACKMORE in Autism, 26-8 (November 2022)  

Public ISBD [article]  inAutism > 26-8 (November 2022) . - p.2098-2107 Titre : Adults with autism spectrum disorder and the criminal justice system: An investigation of prevalence of contact with the criminal justice system, risk factors and sex differences in a specialist assessment service Type de document : texte imprimé Auteurs : Charlotte E. BLACKMORE, Auteur ; Emma L. WOODHOUSE, Auteur ; Nicola GILLAN, Auteur ; Ellie WILSON, Auteur ; Karen L. ASHWOOD, Auteur ; Vladimira STOENCHEVA, Auteur ; Alexandra NOLAN, Auteur ; Gráinne M. MCALONAN, Auteur ; Dene ROBERTSON, Auteur ; Susannah WHITWELL, Auteur ; Quinton DEELEY, Auteur ; Michael C. CRAIG, Auteur ; Janneke ZINKSTOK, Auteur ; Rob WICHERS, Auteur ; Debbie SPAIN, Auteur ; Ged ROBERTS, Auteur ; Declan G.M. MURPHY, Auteur ; Clodagh M. MURPHY, Auteur ; Eileen DALY, Auteur Article en page(s) : p.2098-2107 Langues : Anglais (eng) Mots-clés : Adult  Humans  Male  Female  Autism Spectrum Disorder/epidemiology  Criminal Law  Prevalence  Sex Characteristics  Risk Factors  autism spectrum disorders  crime  criminal justice system  offending  risk factors  research, authorship and/or publication of this article. Index. décimale : PER Périodiques Résumé : There has been growing interest in offending and contact with the criminal justice system (CJS) by people with autism spectrum disorder (ASD). However, it is not clear whether people with ASD offend more than those without ASD. Studies have started to look at whether there are particular offences people with ASD are more likely to commit and whether there are any factors that can affect whether someone comes into contact with the CJS as a potential suspect. This study looked at the patients who attended an ASD diagnostic service over a 17-year period to see the rate of contact with the CJS of those who were diagnosed with ASD and whether there were any particular factors that might increase the risk of CJS contact. Nearly a quarter of the ASD group had some contact with the CJS as a potential suspect. Factors that seemed to increase whether someone with ASD was more likely to have contact with the CJS were being male, being diagnosed with ADHD, and being diagnosed with psychosis. This study is one of the largest studies to investigate the rate of CJS contact as a potential suspect in a sample of adults with ASD in an attempt to give a clearer picture of what might influence someone with ASD to engage in offending behaviour in order to try to see what mental health services can offer to reduce the likelihood of someone with ASD coming into contact with the CJS, for example, treatment for another condition or support. En ligne : http://dx.doi.org/10.1177/13623613221081343 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=488 [article] Adults with autism spectrum disorder and the criminal justice system: An investigation of prevalence of contact with the criminal justice system, risk factors and sex differences in a specialist assessment service [texte imprimé] / Charlotte E. BLACKMORE, Auteur ; Emma L. WOODHOUSE, Auteur ; Nicola GILLAN, Auteur ; Ellie WILSON, Auteur ; Karen L. ASHWOOD, Auteur ; Vladimira STOENCHEVA, Auteur ; Alexandra NOLAN, Auteur ; Gráinne M. MCALONAN, Auteur ; Dene ROBERTSON, Auteur ; Susannah WHITWELL, Auteur ; Quinton DEELEY, Auteur ; Michael C. CRAIG, Auteur ; Janneke ZINKSTOK, Auteur ; Rob WICHERS, Auteur ; Debbie SPAIN, Auteur ; Ged ROBERTS, Auteur ; Declan G.M. MURPHY, Auteur ; Clodagh M. MURPHY, Auteur ; Eileen DALY, Auteur . - p.2098-2107. Langues : Anglais (eng) in Autism > 26-8 (November 2022) . - p.2098-2107 Mots-clés : Adult  Humans  Male  Female  Autism Spectrum Disorder/epidemiology  Criminal Law  Prevalence  Sex Characteristics  Risk Factors  autism spectrum disorders  crime  criminal justice system  offending  risk factors  research, authorship and/or publication of this article. Index. décimale : PER Périodiques Résumé : There has been growing interest in offending and contact with the criminal justice system (CJS) by people with autism spectrum disorder (ASD). However, it is not clear whether people with ASD offend more than those without ASD. Studies have started to look at whether there are particular offences people with ASD are more likely to commit and whether there are any factors that can affect whether someone comes into contact with the CJS as a potential suspect. This study looked at the patients who attended an ASD diagnostic service over a 17-year period to see the rate of contact with the CJS of those who were diagnosed with ASD and whether there were any particular factors that might increase the risk of CJS contact. Nearly a quarter of the ASD group had some contact with the CJS as a potential suspect. Factors that seemed to increase whether someone with ASD was more likely to have contact with the CJS were being male, being diagnosed with ADHD, and being diagnosed with psychosis. This study is one of the largest studies to investigate the rate of CJS contact as a potential suspect in a sample of adults with ASD in an attempt to give a clearer picture of what might influence someone with ASD to engage in offending behaviour in order to try to see what mental health services can offer to reduce the likelihood of someone with ASD coming into contact with the CJS, for example, treatment for another condition or support. En ligne : http://dx.doi.org/10.1177/13623613221081343 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=488

Does sex influence the diagnostic evaluation of autism spectrum disorder in adults? / C. Ellie WILSON in Autism, 20-7 (October 2016)  

Public ISBD [article]  inAutism > 20-7 (October 2016) . - p.808-819 Titre : Does sex influence the diagnostic evaluation of autism spectrum disorder in adults? Type de document : texte imprimé Auteurs : C. Ellie WILSON, Auteur ; Clodagh M. MURPHY, Auteur ; Gráinne M. MCALONAN, Auteur ; Dene ROBERTSON, Auteur ; Debbie SPAIN, Auteur ; Hannah HAYWARD, Auteur ; Emma WOODHOUSE, Auteur ; Quinton DEELEY, Auteur ; Nicola GILLAN, Auteur ; J. Chris OHLSEN, Auteur ; Janneke ZINKSTOK, Auteur ; Vladimira STOENCHEVA, Auteur ; Jessica FAULKNER, Auteur ; Hatice YILDIRAN, Auteur ; Vaughan BELL, Auteur ; Neil HAMMOND, Auteur ; Michael C. CRAIG, Auteur ; Declan G.M. MURPHY, Auteur Article en page(s) : p.808-819 Langues : Anglais (eng) Mots-clés : autism spectrum disorder  diagnosis  females  males  sex differences Index. décimale : PER Périodiques Résumé : It is unknown whether sex influences the diagnostic evaluation of autism spectrum disorder, or whether male and female adults within the spectrum have different symptom profiles. This study reports sex differences in clinical outcomes for 1244 adults (935 males and 309 females) referred for autism spectrum disorder assessment. Significantly, more males (72%) than females (66%) were diagnosed with an autism spectrum disorder of any subtype (x2 = 4.09; p = 0.04). In high-functioning autism spectrum disorder adults (IQ > 70; N = 827), there were no significant sex differences in severity of socio-communicative domain symptoms. Males had significantly more repetitive behaviours/restricted interests than females (p = 0.001, d = 0.3). A multivariate analysis of variance indicated a significant interaction between autism spectrum disorder subtype (full-autism spectrum disorder/partial-autism spectrum disorder) and sex: in full-autism spectrum disorder, males had more severe socio-communicative symptoms than females; for partial-autism spectrum disorder, the reverse was true. There were no sex differences in prevalence of co-morbid psychopathologies. Sex influenced diagnostic evaluation in a clinical sample of adults with suspected autism spectrum disorder. The sexes may present with different manifestations of the autism spectrum disorder phenotype and differences vary by diagnostic subtype. Understanding and awareness of adult female repetitive behaviours/restricted interests warrant attention and sex-specific diagnostic assessment tools may need to be considered. En ligne : http://dx.doi.org/10.1177/1362361315611381 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=293 [article] Does sex influence the diagnostic evaluation of autism spectrum disorder in adults? [texte imprimé] / C. Ellie WILSON, Auteur ; Clodagh M. MURPHY, Auteur ; Gráinne M. MCALONAN, Auteur ; Dene ROBERTSON, Auteur ; Debbie SPAIN, Auteur ; Hannah HAYWARD, Auteur ; Emma WOODHOUSE, Auteur ; Quinton DEELEY, Auteur ; Nicola GILLAN, Auteur ; J. Chris OHLSEN, Auteur ; Janneke ZINKSTOK, Auteur ; Vladimira STOENCHEVA, Auteur ; Jessica FAULKNER, Auteur ; Hatice YILDIRAN, Auteur ; Vaughan BELL, Auteur ; Neil HAMMOND, Auteur ; Michael C. CRAIG, Auteur ; Declan G.M. MURPHY, Auteur . - p.808-819. Langues : Anglais (eng) in Autism > 20-7 (October 2016) . - p.808-819 Mots-clés : autism spectrum disorder  diagnosis  females  males  sex differences Index. décimale : PER Périodiques Résumé : It is unknown whether sex influences the diagnostic evaluation of autism spectrum disorder, or whether male and female adults within the spectrum have different symptom profiles. This study reports sex differences in clinical outcomes for 1244 adults (935 males and 309 females) referred for autism spectrum disorder assessment. Significantly, more males (72%) than females (66%) were diagnosed with an autism spectrum disorder of any subtype (x2 = 4.09; p = 0.04). In high-functioning autism spectrum disorder adults (IQ > 70; N = 827), there were no significant sex differences in severity of socio-communicative domain symptoms. Males had significantly more repetitive behaviours/restricted interests than females (p = 0.001, d = 0.3). A multivariate analysis of variance indicated a significant interaction between autism spectrum disorder subtype (full-autism spectrum disorder/partial-autism spectrum disorder) and sex: in full-autism spectrum disorder, males had more severe socio-communicative symptoms than females; for partial-autism spectrum disorder, the reverse was true. There were no sex differences in prevalence of co-morbid psychopathologies. Sex influenced diagnostic evaluation in a clinical sample of adults with suspected autism spectrum disorder. The sexes may present with different manifestations of the autism spectrum disorder phenotype and differences vary by diagnostic subtype. Understanding and awareness of adult female repetitive behaviours/restricted interests warrant attention and sex-specific diagnostic assessment tools may need to be considered. En ligne : http://dx.doi.org/10.1177/1362361315611381 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=293

Familial risk of autism alters subcortical and cerebellar brain anatomy in infants and predicts the emergence of repetitive behaviors in early childhood / Inês POTE in Autism Research, 12-4 (April 2019)  

Public ISBD [article]  inAutism Research > 12-4 (April 2019) . - p.614-627 Titre : Familial risk of autism alters subcortical and cerebellar brain anatomy in infants and predicts the emergence of repetitive behaviors in early childhood Type de document : texte imprimé Auteurs : Inês POTE, Auteur ; Suiping WANG, Auteur ; Vaheshta SETHNA, Auteur ; Anna BLASI, Auteur ; Eileen DALY, Auteur ; Maria KUKLISOVA-MURGASOVA, Auteur ; Sarah LLOYD-FOX, Auteur ; Evelyne MERCURE, Auteur ; Paula BUSUULWA, Auteur ; Vladimira STOENCHEVA, Auteur ; Tony CHARMAN, Auteur ; Steven C.R. WILLIAMS, Auteur ; Mark Henry JOHNSON, Auteur ; Declan G.M. MURPHY, Auteur ; Gráinne M. MCALONAN, Auteur Article en page(s) : p.614-627 Langues : Anglais (eng) Mots-clés : autism spectrum disorder  cerebellum  familial risk  infants  magnetic resonance imaging-structural  mother-infant interaction  subcortex Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) is a common neurodevelopmental condition, and infant siblings of children with ASD are at a higher risk of developing autistic traits or an ASD diagnosis, when compared to those with typically developing siblings. Reports of differences in brain anatomy and function in high-risk infants which predict later autistic behaviors are emerging, but although cerebellar and subcortical brain regions have been frequently implicated in ASD, no high-risk study has examined these regions. Therefore, in this study, we compared regional MRI volumes across the whole brain in 4-6-month-old infants with (high-risk, n = 24) and without (low-risk, n = 26) a sibling with ASD. Within the high-risk group, we also examined whether any regional differences observed were associated with autistic behaviors at 36 months. We found that high-risk infants had significantly larger cerebellar and subcortical volumes at 4-6-months of age, relative to low-risk infants; and that larger volumes in high-risk infants were linked to more repetitive behaviors at 36 months. Our preliminary observations require replication in longitudinal studies of larger samples. If correct, they suggest that the early subcortex and cerebellum volumes may be predictive biomarkers for childhood repetitive behaviors. Autism Res 2019, 12: 614-627. (c) 2019 The Authors. Autism Research published by International Society for Autism Research published byWiley Periodicals, Inc. LAY SUMMARY: Individuals with a family history of autism spectrum disorder (ASD) are at risk of ASD and related developmental difficulties. This study revealed that 4-6-month-old infants at high-risk of ASD have larger cerebellum and subcortical volumes than low-risk infants, and that larger volumes in high-risk infants are associated with more repetitive behaviors in childhood. En ligne : https://dx.doi.org/10.1002/aur.2083 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=388 [article] Familial risk of autism alters subcortical and cerebellar brain anatomy in infants and predicts the emergence of repetitive behaviors in early childhood [texte imprimé] / Inês POTE, Auteur ; Suiping WANG, Auteur ; Vaheshta SETHNA, Auteur ; Anna BLASI, Auteur ; Eileen DALY, Auteur ; Maria KUKLISOVA-MURGASOVA, Auteur ; Sarah LLOYD-FOX, Auteur ; Evelyne MERCURE, Auteur ; Paula BUSUULWA, Auteur ; Vladimira STOENCHEVA, Auteur ; Tony CHARMAN, Auteur ; Steven C.R. WILLIAMS, Auteur ; Mark Henry JOHNSON, Auteur ; Declan G.M. MURPHY, Auteur ; Gráinne M. MCALONAN, Auteur . - p.614-627. Langues : Anglais (eng) in Autism Research > 12-4 (April 2019) . - p.614-627 Mots-clés : autism spectrum disorder  cerebellum  familial risk  infants  magnetic resonance imaging-structural  mother-infant interaction  subcortex Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) is a common neurodevelopmental condition, and infant siblings of children with ASD are at a higher risk of developing autistic traits or an ASD diagnosis, when compared to those with typically developing siblings. Reports of differences in brain anatomy and function in high-risk infants which predict later autistic behaviors are emerging, but although cerebellar and subcortical brain regions have been frequently implicated in ASD, no high-risk study has examined these regions. Therefore, in this study, we compared regional MRI volumes across the whole brain in 4-6-month-old infants with (high-risk, n = 24) and without (low-risk, n = 26) a sibling with ASD. Within the high-risk group, we also examined whether any regional differences observed were associated with autistic behaviors at 36 months. We found that high-risk infants had significantly larger cerebellar and subcortical volumes at 4-6-months of age, relative to low-risk infants; and that larger volumes in high-risk infants were linked to more repetitive behaviors at 36 months. Our preliminary observations require replication in longitudinal studies of larger samples. If correct, they suggest that the early subcortex and cerebellum volumes may be predictive biomarkers for childhood repetitive behaviors. Autism Res 2019, 12: 614-627. (c) 2019 The Authors. Autism Research published by International Society for Autism Research published byWiley Periodicals, Inc. LAY SUMMARY: Individuals with a family history of autism spectrum disorder (ASD) are at risk of ASD and related developmental difficulties. This study revealed that 4-6-month-old infants at high-risk of ASD have larger cerebellum and subcortical volumes than low-risk infants, and that larger volumes in high-risk infants are associated with more repetitive behaviors in childhood. En ligne : https://dx.doi.org/10.1002/aur.2083 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=388

Modulation of atypical brain activation during executive functioning in autism: a pharmacological MRI study of tianeptine / Robert H. WICHERS in Molecular Autism, 12 (2021)  

Public ISBD [article]  inMolecular Autism > 12 (2021) . - 14 p. Titre : Modulation of atypical brain activation during executive functioning in autism: a pharmacological MRI study of tianeptine Type de document : texte imprimé Auteurs : Robert H. WICHERS, Auteur ; James L. FINDON, Auteur ; Auke JELSMA, Auteur ; Vincent GIAMPIETRO, Auteur ; Vladimira STOENCHEVA, Auteur ; Debra W. ROBERTSON, Auteur ; Clodagh M. MURPHY, Auteur ; Sarah BLAINEY, Auteur ; Gráinne M. MCALONAN, Auteur ; Christine ECKER, Auteur ; Katya RUBIA, Auteur ; Declan G.M. MURPHY, Auteur ; Eileen DALY, Auteur Article en page(s) : 14 p. Langues : Anglais (eng) Mots-clés : Adult  Antidepressive Agents, Tricyclic/therapeutic use  Attention/drug effects  Autistic Disorder/diagnostic imaging/drug therapy/physiopathology/psychology  Brain/diagnostic imaging/physiopathology  Cross-Over Studies  Double-Blind Method  Executive Function/drug effects  Humans  Magnetic Resonance Imaging  Male  Middle Aged  Pilot Projects  Thiazepines/therapeutic use  Young Adult  Autism spectrum disorder  Executive functioning  Serotonin  Tianeptine  fMRI  grants from Lilly and Shire. The other authors declare that they have no competing  interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism spectrum disorder (ASD) is associated with deficits in executive functioning (EF), and these have been suggested to contribute to core as well as co-occurring psychiatric symptoms. The biological basis of these deficits is unknown but may include the serotonergic system, which is involved both in regulating EF in neurotypical populations and in the pathophysiology of ASD. We previously demonstrated that reducing serotonin by acute tryptophan depletion (ATD) shifts differences in brain function during performance of EF tasks towards control levels. However, ATD cannot be easily used in the clinic, and we therefore need to adopt alternative approaches to challenge the serotonin system. Hence, we investigated the role of the serotonergic modulator tianeptine on EF networks in ASD. METHOD: We conducted a pharmacological magnetic resonance imaging study, using a randomized double-blind crossover design, to compare the effect of an acute dosage of 12.5 mg tianeptine and placebo on brain activation during two EF tasks (of response inhibition and sustained attention) in 38 adult males: 19 with ASD and 19 matched controls. RESULTS: Under placebo, compared to controls, individuals with ASD had atypical brain activation in response inhibition regions including the inferior frontal cortex, premotor regions and cerebellum. During sustained attention, individuals with ASD had decreased brain activation in the right middle temporal cortex, right cuneus and left precuneus. Most of the case-control differences in brain function observed under placebo conditions were abolished by tianeptine administration. Also, within ASD individuals, brain functional differences were shifted significantly towards control levels during response inhibition in the inferior frontal and premotor cortices. LIMITATIONS: We conducted a pilot study using a single dose of tianeptine, and therefore, we cannot comment on long-term outcome. CONCLUSIONS: Our findings provide the first evidence that tianeptine can shift atypical brain activation during EF in adults with ASD towards control levels. Future studies should investigate whether this shift in the biology of ASD is maintained after prolonged treatment with tianeptine and whether it improves clinical symptoms. En ligne : http://dx.doi.org/10.1186/s13229-021-00422-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=459 [article] Modulation of atypical brain activation during executive functioning in autism: a pharmacological MRI study of tianeptine [texte imprimé] / Robert H. WICHERS, Auteur ; James L. FINDON, Auteur ; Auke JELSMA, Auteur ; Vincent GIAMPIETRO, Auteur ; Vladimira STOENCHEVA, Auteur ; Debra W. ROBERTSON, Auteur ; Clodagh M. MURPHY, Auteur ; Sarah BLAINEY, Auteur ; Gráinne M. MCALONAN, Auteur ; Christine ECKER, Auteur ; Katya RUBIA, Auteur ; Declan G.M. MURPHY, Auteur ; Eileen DALY, Auteur . - 14 p. Langues : Anglais (eng) in Molecular Autism > 12 (2021) . - 14 p. Mots-clés : Adult  Antidepressive Agents, Tricyclic/therapeutic use  Attention/drug effects  Autistic Disorder/diagnostic imaging/drug therapy/physiopathology/psychology  Brain/diagnostic imaging/physiopathology  Cross-Over Studies  Double-Blind Method  Executive Function/drug effects  Humans  Magnetic Resonance Imaging  Male  Middle Aged  Pilot Projects  Thiazepines/therapeutic use  Young Adult  Autism spectrum disorder  Executive functioning  Serotonin  Tianeptine  fMRI  grants from Lilly and Shire. The other authors declare that they have no competing  interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism spectrum disorder (ASD) is associated with deficits in executive functioning (EF), and these have been suggested to contribute to core as well as co-occurring psychiatric symptoms. The biological basis of these deficits is unknown but may include the serotonergic system, which is involved both in regulating EF in neurotypical populations and in the pathophysiology of ASD. We previously demonstrated that reducing serotonin by acute tryptophan depletion (ATD) shifts differences in brain function during performance of EF tasks towards control levels. However, ATD cannot be easily used in the clinic, and we therefore need to adopt alternative approaches to challenge the serotonin system. Hence, we investigated the role of the serotonergic modulator tianeptine on EF networks in ASD. METHOD: We conducted a pharmacological magnetic resonance imaging study, using a randomized double-blind crossover design, to compare the effect of an acute dosage of 12.5 mg tianeptine and placebo on brain activation during two EF tasks (of response inhibition and sustained attention) in 38 adult males: 19 with ASD and 19 matched controls. RESULTS: Under placebo, compared to controls, individuals with ASD had atypical brain activation in response inhibition regions including the inferior frontal cortex, premotor regions and cerebellum. During sustained attention, individuals with ASD had decreased brain activation in the right middle temporal cortex, right cuneus and left precuneus. Most of the case-control differences in brain function observed under placebo conditions were abolished by tianeptine administration. Also, within ASD individuals, brain functional differences were shifted significantly towards control levels during response inhibition in the inferior frontal and premotor cortices. LIMITATIONS: We conducted a pilot study using a single dose of tianeptine, and therefore, we cannot comment on long-term outcome. CONCLUSIONS: Our findings provide the first evidence that tianeptine can shift atypical brain activation during EF in adults with ASD towards control levels. Future studies should investigate whether this shift in the biology of ASD is maintained after prolonged treatment with tianeptine and whether it improves clinical symptoms. En ligne : http://dx.doi.org/10.1186/s13229-021-00422-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=459

Neuroanatomical underpinnings of autism symptomatology in carriers and non-carriers of the 22q11.2 microdeletion / Maria GUDBRANDSEN in Molecular Autism, 11 (2020)  

Public ISBD [article]  inMolecular Autism > 11 (2020) . - 46 p. Titre : Neuroanatomical underpinnings of autism symptomatology in carriers and non-carriers of the 22q11.2 microdeletion Type de document : texte imprimé Auteurs : Maria GUDBRANDSEN, Auteur ; Anke BLETSCH, Auteur ; Caroline MANN, Auteur ; Eileen DALY, Auteur ; Clodagh M. MURPHY, Auteur ; Vladimira STOENCHEVA, Auteur ; Charlotte E. BLACKMORE, Auteur ; Maria ROGDAKI, Auteur ; Leila KUSHAN, Auteur ; Carrie E. BEARDEN, Auteur ; Declan G.M. MURPHY, Auteur ; Michael C. CRAIG, Auteur ; Christine ECKER, Auteur Article en page(s) : 46 p. Langues : Anglais (eng) Mots-clés : 22q11.2 deletion syndrome  Autism spectrum disorder  Brain anatomy  Neurodevelopment  Surface-based anatomy  authors reported any financial interests or conflicts of interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: A crucial step to understanding the mechanistic underpinnings of autism spectrum disorder (ASD), is to examine if the biological underpinnings of ASD in genetic high-risk conditions, like 22q11.2 deletion syndrome (22q11.2DS), are similar to those in idiopathic illness. This study aimed to examine if ASD symptomatology in 22q11.2DS is underpinned by the same-or distinct-neural systems that mediate these symptoms in non-deletion carriers. METHODS: We examined vertex-wise estimates of cortical volume (CV), surface area (SA), and cortical thickness across 131 individuals between 6 and 25 years of age including (1) 50 individuals with 22q11.2DS, out of which n = 25 had a diagnosis of ASD, (2) 40 non-carriers of the microdeletion with a diagnosis of ASD (i.e., idiopathic ASD), and (3) 41 typically developing (TD) controls. We employed a 2-by-2 factorial design to identify neuroanatomical variability associated with the main effects of 22q11.2DS and ASD, as well as their interaction. Further, using canonical correlation analysis (CCA), we compared neuroanatomical variability associated with the complex (i.e., multivariate) clinical phenotype of ASD between 22q11.2 deletion carriers and non-carriers. RESULTS: The set of brain regions associated with the main effect of 22q11.2DS was distinct from the neuroanatomical underpinnings of the main effect of ASD. Moreover, significant 22q11.2DS-by-ASD interactions were observed for CV and SA in the dorsolateral prefrontal cortex, precentral gyrus, and posterior cingulate cortex, suggesting that the neuroanatomy of ASD is significantly modulated by 22q11.2DS (p < 0.01). We further established that the multivariate patterns of neuroanatomical variability associated with differences in symptom profiles significantly differed between 22q11.2 deletion carriers and non-carriers. LIMITATIONS: We employed a multicenter design to overcome single-site recruitment limitations; however, FreeSurfer-derived measures of surface anatomy have been shown to be highly reliable across scanner platforms and field strengths. Further, we controlled for gender to address the differing distribution between idiopathic ASD individuals and the other groups. Nonetheless, the gender distribution in our sample reflects that of the respective populations, adding to the generalizability of our results. Last, we included individuals with a relatively wide age range (i.e., 6-25 years). CONCLUSIONS: Our findings indicate that neuroanatomical correlates of ASD symptomatology in carriers of the 22q11.2 microdeletion diverge from those in idiopathic ASD. En ligne : http://dx.doi.org/10.1186/s13229-020-00356-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=427 [article] Neuroanatomical underpinnings of autism symptomatology in carriers and non-carriers of the 22q11.2 microdeletion [texte imprimé] / Maria GUDBRANDSEN, Auteur ; Anke BLETSCH, Auteur ; Caroline MANN, Auteur ; Eileen DALY, Auteur ; Clodagh M. MURPHY, Auteur ; Vladimira STOENCHEVA, Auteur ; Charlotte E. BLACKMORE, Auteur ; Maria ROGDAKI, Auteur ; Leila KUSHAN, Auteur ; Carrie E. BEARDEN, Auteur ; Declan G.M. MURPHY, Auteur ; Michael C. CRAIG, Auteur ; Christine ECKER, Auteur . - 46 p. Langues : Anglais (eng) in Molecular Autism > 11 (2020) . - 46 p. Mots-clés : 22q11.2 deletion syndrome  Autism spectrum disorder  Brain anatomy  Neurodevelopment  Surface-based anatomy  authors reported any financial interests or conflicts of interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: A crucial step to understanding the mechanistic underpinnings of autism spectrum disorder (ASD), is to examine if the biological underpinnings of ASD in genetic high-risk conditions, like 22q11.2 deletion syndrome (22q11.2DS), are similar to those in idiopathic illness. This study aimed to examine if ASD symptomatology in 22q11.2DS is underpinned by the same-or distinct-neural systems that mediate these symptoms in non-deletion carriers. METHODS: We examined vertex-wise estimates of cortical volume (CV), surface area (SA), and cortical thickness across 131 individuals between 6 and 25 years of age including (1) 50 individuals with 22q11.2DS, out of which n = 25 had a diagnosis of ASD, (2) 40 non-carriers of the microdeletion with a diagnosis of ASD (i.e., idiopathic ASD), and (3) 41 typically developing (TD) controls. We employed a 2-by-2 factorial design to identify neuroanatomical variability associated with the main effects of 22q11.2DS and ASD, as well as their interaction. Further, using canonical correlation analysis (CCA), we compared neuroanatomical variability associated with the complex (i.e., multivariate) clinical phenotype of ASD between 22q11.2 deletion carriers and non-carriers. RESULTS: The set of brain regions associated with the main effect of 22q11.2DS was distinct from the neuroanatomical underpinnings of the main effect of ASD. Moreover, significant 22q11.2DS-by-ASD interactions were observed for CV and SA in the dorsolateral prefrontal cortex, precentral gyrus, and posterior cingulate cortex, suggesting that the neuroanatomy of ASD is significantly modulated by 22q11.2DS (p < 0.01). We further established that the multivariate patterns of neuroanatomical variability associated with differences in symptom profiles significantly differed between 22q11.2 deletion carriers and non-carriers. LIMITATIONS: We employed a multicenter design to overcome single-site recruitment limitations; however, FreeSurfer-derived measures of surface anatomy have been shown to be highly reliable across scanner platforms and field strengths. Further, we controlled for gender to address the differing distribution between idiopathic ASD individuals and the other groups. Nonetheless, the gender distribution in our sample reflects that of the respective populations, adding to the generalizability of our results. Last, we included individuals with a relatively wide age range (i.e., 6-25 years). CONCLUSIONS: Our findings indicate that neuroanatomical correlates of ASD symptomatology in carriers of the 22q11.2 microdeletion diverge from those in idiopathic ASD. En ligne : http://dx.doi.org/10.1186/s13229-020-00356-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=427

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