A Deletion Involving CD38 and BST1 Results in a Fusion Transcript in a Patient With Autism and Asthma / Fabiola CERONI in Autism Research, 7-2 (April 2014)  

Public ISBD [article]  inAutism Research > 7-2 (April 2014) . - p.254-263 Titre : A Deletion Involving CD38 and BST1 Results in a Fusion Transcript in a Patient With Autism and Asthma Type de document : Texte imprimé et/ou numérique Auteurs : Fabiola CERONI, Auteur ; Angela SAGAR, Auteur ; Nuala H. SIMPSON, Auteur ; Alex J. T. GAWTHROPE, Auteur ; Dianne F. NEWBURY, Auteur ; Dalila PINTO, Auteur ; Sunday M. FRANCIS, Auteur ; Dorothy C. TESSMAN, Auteur ; Edwin H. Jr COOK, Auteur ; Anthony P. MONACO, Auteur ; Elena MAESTRINI, Auteur ; Alistair T. PAGNAMENTA, Auteur ; Suma JACOB, Auteur Article en page(s) : p.254-263 Mots-clés : autism  CD38  oxytocin  CNV  fusion transcript Index. décimale : PER Périodiques Résumé : CD38 encodes a ligand in the oxytocin signaling pathway. Some single nucleotide polymorphisms in this gene have been associated with low serum oxytocin levels in autism spectrum disorder (ASD) patients. Oxytocin disruption has been hypothesized to account for features of ASD, including impaired communication and social behavior, based on animal studies. Recent human studies have shown administration of oxytocin improving emotion recognition, promoting social behavior, and improving auditory processing of social stimuli in ASD patients. In addition to its role in oxytocin signaling, CD38 is involved in the regulation of calcium concentration in airway smooth muscle with impairment of CD38 being implicated in airway diseases like asthma. While a number of studies have implicated rare chromosomal deletions and duplications in helping determine genetic risk for autism, there are to our knowledge no reports describing rearrangements involving CD38 or deletions in patients with ASD. Here, we present two sisters diagnosed with autism and with features of regression—previously acquired speech lost in the second year of life. The younger sister, who also had asthma, inherited a maternal deletion of 4p15.32 that results in a BST1-CD38 fusion transcript. Their mother's deletion was mosaic and she was not affected. Although further work is required to assess functional consequences of the fusion transcript, we hypothesize that the proband's deletion may have served as a risk factor for autism that, when combined with other susceptibility variants, resulted in a more severe presentation than her sister. En ligne : http://dx.doi.org/10.1002/aur.1365 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=230 [article] A Deletion Involving CD38 and BST1 Results in a Fusion Transcript in a Patient With Autism and Asthma [Texte imprimé et/ou numérique] / Fabiola CERONI, Auteur ; Angela SAGAR, Auteur ; Nuala H. SIMPSON, Auteur ; Alex J. T. GAWTHROPE, Auteur ; Dianne F. NEWBURY, Auteur ; Dalila PINTO, Auteur ; Sunday M. FRANCIS, Auteur ; Dorothy C. TESSMAN, Auteur ; Edwin H. Jr COOK, Auteur ; Anthony P. MONACO, Auteur ; Elena MAESTRINI, Auteur ; Alistair T. PAGNAMENTA, Auteur ; Suma JACOB, Auteur . - p.254-263. in Autism Research > 7-2 (April 2014) . - p.254-263 Mots-clés : autism  CD38  oxytocin  CNV  fusion transcript Index. décimale : PER Périodiques Résumé : CD38 encodes a ligand in the oxytocin signaling pathway. Some single nucleotide polymorphisms in this gene have been associated with low serum oxytocin levels in autism spectrum disorder (ASD) patients. Oxytocin disruption has been hypothesized to account for features of ASD, including impaired communication and social behavior, based on animal studies. Recent human studies have shown administration of oxytocin improving emotion recognition, promoting social behavior, and improving auditory processing of social stimuli in ASD patients. In addition to its role in oxytocin signaling, CD38 is involved in the regulation of calcium concentration in airway smooth muscle with impairment of CD38 being implicated in airway diseases like asthma. While a number of studies have implicated rare chromosomal deletions and duplications in helping determine genetic risk for autism, there are to our knowledge no reports describing rearrangements involving CD38 or deletions in patients with ASD. Here, we present two sisters diagnosed with autism and with features of regression—previously acquired speech lost in the second year of life. The younger sister, who also had asthma, inherited a maternal deletion of 4p15.32 that results in a BST1-CD38 fusion transcript. Their mother's deletion was mosaic and she was not affected. Although further work is required to assess functional consequences of the fusion transcript, we hypothesize that the proband's deletion may have served as a risk factor for autism that, when combined with other susceptibility variants, resulted in a more severe presentation than her sister. En ligne : http://dx.doi.org/10.1002/aur.1365 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=230

Parental Broader Autism Subphenotypes in ASD Affected Families: Relationship to Gender, Child's Symptoms, SSRI Treatment, and Platelet Serotonin / Tal LEVIN-DECANINI in Autism Research, 6-6 (December 2013)  

Public ISBD [article]  inAutism Research > 6-6 (December 2013) . - p.621-630 Titre : Parental Broader Autism Subphenotypes in ASD Affected Families: Relationship to Gender, Child's Symptoms, SSRI Treatment, and Platelet Serotonin Type de document : Texte imprimé et/ou numérique Auteurs : Tal LEVIN-DECANINI, Auteur ; Nell MALTMAN, Auteur ; Sunday M. FRANCIS, Auteur ; Steve GUTER, Auteur ; George M. ANDERSON, Auteur ; Edwin H. Jr COOK, Auteur ; Suma JACOB, Auteur Année de publication : 2013 Article en page(s) : p.621-630 Langues : Anglais (eng) Mots-clés : broader autism phenotype  serotonin  autism  SSRI Index. décimale : PER Périodiques Résumé : Relationships between parental broader autism phenotype (BAP) scores, gender, selective serotonin reuptake inhibitor (SSRI) treatment, serotonin (5HT) levels, and the child's symptoms were investigated in a family study of autism spectrum disorder (ASD). The Broader Autism Phenotype Questionnaire (BAPQ) was used to measure the BAP of 275 parents. Fathers not taking SSRIs (F-SSRI; n?=?115) scored significantly higher on BAP Total and Aloof subscales compared to mothers not receiving treatment (M-SSRI; n?=?136.) However, mothers taking SSRIs (M?+?SSRI; n?=?19) scored higher than those not taking medication on BAP Total and Rigid subscales, and they were more likely to be BAPQ Total, Aloof, and Rigid positive. Significant correlations were noted between proband autism symptoms and parental BAPQ scores such that Total, Aloof, and Rigid subscale scores of F-SSRI correlated with proband restricted repetitive behavior (RRB) measures on the ADOS, CRI, and RBS-R. However, only the Aloof subscale score of M?+?SSRI correlated with proband RRB on the ADOS. The correlation between the BAPQ scores of mothers taking SSRIs and child scores, as well as the increase in BAPQ scores of this group of mothers, requires careful interpretation and further study because correlations would not withstand multiple corrections. As expected by previous research, significant parent–child correlations were observed for 5HT levels. However, 5HT levels were not correlated with behavioral measures. Study results suggest that the expression of the BAP varies not only across parental gender, but also across individuals using psychotropic medication and those who do not. En ligne : http://dx.doi.org/10.1002/aur.1322 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=221 [article] Parental Broader Autism Subphenotypes in ASD Affected Families: Relationship to Gender, Child's Symptoms, SSRI Treatment, and Platelet Serotonin [Texte imprimé et/ou numérique] / Tal LEVIN-DECANINI, Auteur ; Nell MALTMAN, Auteur ; Sunday M. FRANCIS, Auteur ; Steve GUTER, Auteur ; George M. ANDERSON, Auteur ; Edwin H. Jr COOK, Auteur ; Suma JACOB, Auteur . - 2013 . - p.621-630. Langues : Anglais (eng) in Autism Research > 6-6 (December 2013) . - p.621-630 Mots-clés : broader autism phenotype  serotonin  autism  SSRI Index. décimale : PER Périodiques Résumé : Relationships between parental broader autism phenotype (BAP) scores, gender, selective serotonin reuptake inhibitor (SSRI) treatment, serotonin (5HT) levels, and the child's symptoms were investigated in a family study of autism spectrum disorder (ASD). The Broader Autism Phenotype Questionnaire (BAPQ) was used to measure the BAP of 275 parents. Fathers not taking SSRIs (F-SSRI; n?=?115) scored significantly higher on BAP Total and Aloof subscales compared to mothers not receiving treatment (M-SSRI; n?=?136.) However, mothers taking SSRIs (M?+?SSRI; n?=?19) scored higher than those not taking medication on BAP Total and Rigid subscales, and they were more likely to be BAPQ Total, Aloof, and Rigid positive. Significant correlations were noted between proband autism symptoms and parental BAPQ scores such that Total, Aloof, and Rigid subscale scores of F-SSRI correlated with proband restricted repetitive behavior (RRB) measures on the ADOS, CRI, and RBS-R. However, only the Aloof subscale score of M?+?SSRI correlated with proband RRB on the ADOS. The correlation between the BAPQ scores of mothers taking SSRIs and child scores, as well as the increase in BAPQ scores of this group of mothers, requires careful interpretation and further study because correlations would not withstand multiple corrections. As expected by previous research, significant parent–child correlations were observed for 5HT levels. However, 5HT levels were not correlated with behavioral measures. Study results suggest that the expression of the BAP varies not only across parental gender, but also across individuals using psychotropic medication and those who do not. En ligne : http://dx.doi.org/10.1002/aur.1322 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=221

The use of noninvasive brain stimulation techniques in autism spectrum disorder / Sunday M. FRANCIS ; Sarah H. LISANBY in Autism Research, 17-1 (January 2024)  

Public ISBD [article]  inAutism Research > 17-1 (January 2024) . - p.17-26 Titre : The use of noninvasive brain stimulation techniques in autism spectrum disorder Type de document : Texte imprimé et/ou numérique Auteurs : Sunday M. FRANCIS, Auteur ; Sarah H. LISANBY, Auteur Article en page(s) : p.17-26 Index. décimale : PER Périodiques Résumé : Abstract Noninvasive brain stimulation (NIBS) techniques, including repetitive transcranial magnetic stimulation (rTMS) and transcranial direct current stimulation (tDCS), have recently emerged as alternative, nonpharmacological interventions for a variety of psychiatric, neurological, and neurodevelopmental conditions. NIBS is beginning to be applied in both research and clinical settings for the treatment of core and associated symptoms of autism spectrum disorder (ASD) including social communication deficits, restricted and repetitive behaviors, irritability, hyperactivity, depression and impairments in executive functioning and sensorimotor integration. Though there is much promise for these targeted device-based interventions, in other disorders (including adult major depressive disorder (MDD) and obsessive compulsive disorder (OCD) where rTMS is FDA cleared), data on the safety and efficacy of these interventions in individuals with ASD is limited especially in younger children when neurodevelopmental interventions typically begin. Most studies are open-label, small scale, and/or focused on a restricted subgroup of individuals with ASD. There is a need for larger, randomized controlled trials that incorporate neuroimaging in order to develop predictive biomarkers of treatment response and optimize treatment parameters. We contend that until such studies are conducted, we do not have adequate estimates of the safety and efficacy of NIBS interventions in children across the spectrum. Thus, broad off-label use of these techniques in this population is not supported by currently available evidence. Here we discuss the existing data on the use of NIBS to treat symptoms related to ASD and discuss future directions for the field. En ligne : https://doi.org/10.1002/aur.3041 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=519 [article] The use of noninvasive brain stimulation techniques in autism spectrum disorder [Texte imprimé et/ou numérique] / Sunday M. FRANCIS, Auteur ; Sarah H. LISANBY, Auteur . - p.17-26. in Autism Research > 17-1 (January 2024) . - p.17-26 Index. décimale : PER Périodiques Résumé : Abstract Noninvasive brain stimulation (NIBS) techniques, including repetitive transcranial magnetic stimulation (rTMS) and transcranial direct current stimulation (tDCS), have recently emerged as alternative, nonpharmacological interventions for a variety of psychiatric, neurological, and neurodevelopmental conditions. NIBS is beginning to be applied in both research and clinical settings for the treatment of core and associated symptoms of autism spectrum disorder (ASD) including social communication deficits, restricted and repetitive behaviors, irritability, hyperactivity, depression and impairments in executive functioning and sensorimotor integration. Though there is much promise for these targeted device-based interventions, in other disorders (including adult major depressive disorder (MDD) and obsessive compulsive disorder (OCD) where rTMS is FDA cleared), data on the safety and efficacy of these interventions in individuals with ASD is limited especially in younger children when neurodevelopmental interventions typically begin. Most studies are open-label, small scale, and/or focused on a restricted subgroup of individuals with ASD. There is a need for larger, randomized controlled trials that incorporate neuroimaging in order to develop predictive biomarkers of treatment response and optimize treatment parameters. We contend that until such studies are conducted, we do not have adequate estimates of the safety and efficacy of NIBS interventions in children across the spectrum. Thus, broad off-label use of these techniques in this population is not supported by currently available evidence. Here we discuss the existing data on the use of NIBS to treat symptoms related to ASD and discuss future directions for the field. En ligne : https://doi.org/10.1002/aur.3041 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=519

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