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Quantitative Gait Analysis in Duplication 15q Syndrome and Nonsyndromic ASD / Rujuta B. WILSON in Autism Research, 13-7 (July 2020)
[article]
Titre : Quantitative Gait Analysis in Duplication 15q Syndrome and Nonsyndromic ASD Type de document : Texte imprimé et/ou numérique Auteurs : Rujuta B. WILSON, Auteur ; David ELASHOFF, Auteur ; Arnaud GOUELLE, Auteur ; Beth A. SMITH, Auteur ; Andrew M. WILSON, Auteur ; Abigail DICKINSON, Auteur ; Tabitha SAFARI, Auteur ; Carly HYDE, Auteur ; Shafali S. JESTE, Auteur Article en page(s) : p.1102-1110 Langues : Anglais (eng) Mots-clés : autism spectrum disorder duplication 15q syndrome gait function genetic syndrome motor impairments quantitative gait analysis Index. décimale : PER Périodiques Résumé : Motor impairments occur frequently in genetic syndromes highly penetrant for autism spectrum disorder (syndromic ASD) and in individuals with ASD without a genetic diagnosis (nonsyndromic ASD). In particular, abnormalities in gait in ASD have been linked to language delay, ASD severity, and likelihood of having a genetic disorder. Quantitative measures of motor function can improve our ability to evaluate motor differences in individuals with syndromic and nonsyndromic ASD with varying levels of intellectual disability and adaptive skills. To evaluate this methodology, we chose to use quantitative gait analysis to study duplication 15q syndrome (dup15q syndrome), a genetic disorder highly penetrant for motor delays, intellectual disability, and ASD. We evaluated quantitative gait variables in individuals with dup15q syndrome (n = 39) and nonsyndromic ASD (n = 21) and compared these data to a reference typically developing cohort. We found a gait pattern of slow pace, poor postural control, and large gait variability in dup15q syndrome. Our findings improve characterization of motor function in dup15q syndrome and nonsyndromic ASD. Quantitative gait analysis can be used as a translational method and can improve our identification of clinical endpoints to be used in treatment trials for these syndromes. Autism Res 2020, 13: 1102-1110. © 2020 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Motor impairments, particularly abnormalities in walking, occur frequently in genetic syndromes highly penetrant for autism spectrum disorder (syndromic ASD). Here, using quantitative gait analysis, we find that individuals with duplication 15q syndrome have an atypical gait pattern that differentiates them from typically developing and nonsyndromic ASD individuals. Our findings improve motor characterization in dup15q syndrome and nonsyndromic ASD. En ligne : http://dx.doi.org/10.1002/aur.2298 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=429
in Autism Research > 13-7 (July 2020) . - p.1102-1110[article] Quantitative Gait Analysis in Duplication 15q Syndrome and Nonsyndromic ASD [Texte imprimé et/ou numérique] / Rujuta B. WILSON, Auteur ; David ELASHOFF, Auteur ; Arnaud GOUELLE, Auteur ; Beth A. SMITH, Auteur ; Andrew M. WILSON, Auteur ; Abigail DICKINSON, Auteur ; Tabitha SAFARI, Auteur ; Carly HYDE, Auteur ; Shafali S. JESTE, Auteur . - p.1102-1110.
Langues : Anglais (eng)
in Autism Research > 13-7 (July 2020) . - p.1102-1110
Mots-clés : autism spectrum disorder duplication 15q syndrome gait function genetic syndrome motor impairments quantitative gait analysis Index. décimale : PER Périodiques Résumé : Motor impairments occur frequently in genetic syndromes highly penetrant for autism spectrum disorder (syndromic ASD) and in individuals with ASD without a genetic diagnosis (nonsyndromic ASD). In particular, abnormalities in gait in ASD have been linked to language delay, ASD severity, and likelihood of having a genetic disorder. Quantitative measures of motor function can improve our ability to evaluate motor differences in individuals with syndromic and nonsyndromic ASD with varying levels of intellectual disability and adaptive skills. To evaluate this methodology, we chose to use quantitative gait analysis to study duplication 15q syndrome (dup15q syndrome), a genetic disorder highly penetrant for motor delays, intellectual disability, and ASD. We evaluated quantitative gait variables in individuals with dup15q syndrome (n = 39) and nonsyndromic ASD (n = 21) and compared these data to a reference typically developing cohort. We found a gait pattern of slow pace, poor postural control, and large gait variability in dup15q syndrome. Our findings improve characterization of motor function in dup15q syndrome and nonsyndromic ASD. Quantitative gait analysis can be used as a translational method and can improve our identification of clinical endpoints to be used in treatment trials for these syndromes. Autism Res 2020, 13: 1102-1110. © 2020 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Motor impairments, particularly abnormalities in walking, occur frequently in genetic syndromes highly penetrant for autism spectrum disorder (syndromic ASD). Here, using quantitative gait analysis, we find that individuals with duplication 15q syndrome have an atypical gait pattern that differentiates them from typically developing and nonsyndromic ASD individuals. Our findings improve motor characterization in dup15q syndrome and nonsyndromic ASD. En ligne : http://dx.doi.org/10.1002/aur.2298 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=429 The autism spectrum phenotype in ADNP syndrome / Anne B. ARNETT in Autism Research, 11-9 (September 2018)
[article]
Titre : The autism spectrum phenotype in ADNP syndrome Type de document : Texte imprimé et/ou numérique Auteurs : Anne B. ARNETT, Auteur ; C. L. RHOADS, Auteur ; K. HOEKZEMA, Auteur ; Tychele N. TURNER, Auteur ; J. GERDTS, Auteur ; Arianne S. WALLACE, Auteur ; S. BEDROSIAN-SERMONE, Auteur ; E. E. EICHLER, Auteur ; Raphael BERNIER, Auteur Article en page(s) : p.1300-1310 Langues : Anglais (eng) Mots-clés : Adnp autism spectrum disorder developmental disorder genetic syndrome intellectual disability Index. décimale : PER Périodiques Résumé : Pathogenic disruptions to the activity-dependent neuroprotector homeobox (ADNP) gene are among the most common heterozygous genetic mutations associated with autism spectrum disorders (ASDs). Individuals with ADNP disruptions share a constellation of medical and psychiatric features, including ASD, intellectual disability (ID), dysmorphic features, and hypotonia. However, the profile of ASD symptoms associated with ADNP may differ from that of individuals with another ASD-associated single gene disruption or with ASD without a known genetic cause. The current study examined the ASD phenotype in a sample of representative youth with ADNP disruptions. Participants (N = 116, ages 4-22 years) included a cohort with ADNP mutations (n = 11) and three comparison groups with either a mutation to CHD8 (n = 11), a mutation to another ASD-associated gene (other mutation; n = 53), or ASD with no known genetic etiology (idiopathic ASD; n = 41). As expected, individuals with ADNP disruptions had higher rates of ID but less severe social affect symptoms compared to the CHD8 and Idiopathic ASD groups. In addition, verbal intelligence explained more variance in social impairment in the ADNP group compared to CHD8, other mutation, and idiopathic ASD comparison groups. Restricted and repetitive behaviors in the ADNP group were characterized by high levels of stereotyped motor behaviors, whereas the idiopathic ASD group showed high levels of restricted interests. Taken together, these results underscore the role of ADNP in cognitive functioning and suggest that social impairments in ADNP syndrome are consistent with severity of verbal deficits. Autism Res 2018, 11: 1300-1310. (c) 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Disruptions to the ADNP gene (i.e., ADNP syndrome) have been associated with autism spectrum disorder (ASD). This article describes intellectual disability, mild social difficulties, and severe repetitive motor movements in a group of 11 youth with ADNP Syndrome. We found lower rates of ASD than previously reported. Verbal skills explained individual variability in social impairment. This pattern suggests that the ADNP gene is primarily associated with learning and memory, and level of social difficulties is consistent with level of verbal impairment. En ligne : http://dx.doi.org/10.1002/aur.1980 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=369
in Autism Research > 11-9 (September 2018) . - p.1300-1310[article] The autism spectrum phenotype in ADNP syndrome [Texte imprimé et/ou numérique] / Anne B. ARNETT, Auteur ; C. L. RHOADS, Auteur ; K. HOEKZEMA, Auteur ; Tychele N. TURNER, Auteur ; J. GERDTS, Auteur ; Arianne S. WALLACE, Auteur ; S. BEDROSIAN-SERMONE, Auteur ; E. E. EICHLER, Auteur ; Raphael BERNIER, Auteur . - p.1300-1310.
Langues : Anglais (eng)
in Autism Research > 11-9 (September 2018) . - p.1300-1310
Mots-clés : Adnp autism spectrum disorder developmental disorder genetic syndrome intellectual disability Index. décimale : PER Périodiques Résumé : Pathogenic disruptions to the activity-dependent neuroprotector homeobox (ADNP) gene are among the most common heterozygous genetic mutations associated with autism spectrum disorders (ASDs). Individuals with ADNP disruptions share a constellation of medical and psychiatric features, including ASD, intellectual disability (ID), dysmorphic features, and hypotonia. However, the profile of ASD symptoms associated with ADNP may differ from that of individuals with another ASD-associated single gene disruption or with ASD without a known genetic cause. The current study examined the ASD phenotype in a sample of representative youth with ADNP disruptions. Participants (N = 116, ages 4-22 years) included a cohort with ADNP mutations (n = 11) and three comparison groups with either a mutation to CHD8 (n = 11), a mutation to another ASD-associated gene (other mutation; n = 53), or ASD with no known genetic etiology (idiopathic ASD; n = 41). As expected, individuals with ADNP disruptions had higher rates of ID but less severe social affect symptoms compared to the CHD8 and Idiopathic ASD groups. In addition, verbal intelligence explained more variance in social impairment in the ADNP group compared to CHD8, other mutation, and idiopathic ASD comparison groups. Restricted and repetitive behaviors in the ADNP group were characterized by high levels of stereotyped motor behaviors, whereas the idiopathic ASD group showed high levels of restricted interests. Taken together, these results underscore the role of ADNP in cognitive functioning and suggest that social impairments in ADNP syndrome are consistent with severity of verbal deficits. Autism Res 2018, 11: 1300-1310. (c) 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Disruptions to the ADNP gene (i.e., ADNP syndrome) have been associated with autism spectrum disorder (ASD). This article describes intellectual disability, mild social difficulties, and severe repetitive motor movements in a group of 11 youth with ADNP Syndrome. We found lower rates of ASD than previously reported. Verbal skills explained individual variability in social impairment. This pattern suggests that the ADNP gene is primarily associated with learning and memory, and level of social difficulties is consistent with level of verbal impairment. En ligne : http://dx.doi.org/10.1002/aur.1980 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=369 Clinical phenotype of ASD-associated DYRK1A haploinsufficiency / R. K. EARL in Molecular Autism, 8 (2017)
[article]
Titre : Clinical phenotype of ASD-associated DYRK1A haploinsufficiency Type de document : Texte imprimé et/ou numérique Auteurs : R. K. EARL, Auteur ; Tychele N. TURNER, Auteur ; H. C. MEFFORD, Auteur ; C. M. HUDAC, Auteur ; J. GERDTS, Auteur ; E. E. EICHLER, Auteur ; Raphael BERNIER, Auteur Article en page(s) : 54p. Langues : Anglais (eng) Mots-clés : Autism Clinical phenotype Dyrk1a Disruptive mutation Genetic syndrome Genetically defined subtype Index. décimale : PER Périodiques Résumé : BACKGROUND: DYRK1A is a gene recurrently disrupted in 0.1-0.5% of the ASD population. A growing number of case reports with DYRK1A haploinsufficiency exhibit common phenotypic features including microcephaly, intellectual disability, speech delay, and facial dysmorphisms. METHODS: Phenotypic information from previously published DYRK1A cases (n = 51) and participants in an ongoing study at the University of Washington (UW, n = 10) were compiled. Frequencies of recurrent phenotypic features in this population were compared to features observed in a large sample with idiopathic ASD from the Simons Simplex Collection (n = 1981). UW DYRK1A cases were further characterized quantitatively and compared to a randomly subsampled set of idiopathic ASD cases matched on age and gender (n = 10) and to cases with an ASD-associated disruptive mutation to CHD8 (n = 12). Contribution of familial genetic background to clinical heterogeneity was assessed by comparing head circumference, IQ, and ASD-related symptoms of UW DYRK1A cases to their unaffected parents. RESULTS: DYRK1A haploinsufficiency results in a common phenotypic profile including intellectual disability, speech and motor difficulties, microcephaly, feeding difficulties, and vision abnormalities. Eighty-nine percent of DYRK1A cases ascertained for ASD presented with a constellation of five or more of these symptoms. When compared quantitatively, DYRK1A cases presented with significantly lower IQ and adaptive functioning compared to idiopathic cases and significantly smaller head size compared to both idiopathic and CHD8 cases. Phenotypic variability in parental head circumference, IQ, and ASD-related symptoms corresponded to observed variability in affected child phenotype. CONCLUSIONS: Results confirm a core clinical phenotype for DYRK1A disruptions, with a combination of features that is distinct from idiopathic ASD. Cases with DYRK1A mutations are also distinguishable from disruptive mutations to CHD8 by head size. Measurable, quantitative characterization of DYRK1A haploinsufficiency illuminates clinical variability, which may be, in part, due to familial genetic background. En ligne : http://dx.doi.org/10.1186/s13229-017-0173-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=330
in Molecular Autism > 8 (2017) . - 54p.[article] Clinical phenotype of ASD-associated DYRK1A haploinsufficiency [Texte imprimé et/ou numérique] / R. K. EARL, Auteur ; Tychele N. TURNER, Auteur ; H. C. MEFFORD, Auteur ; C. M. HUDAC, Auteur ; J. GERDTS, Auteur ; E. E. EICHLER, Auteur ; Raphael BERNIER, Auteur . - 54p.
Langues : Anglais (eng)
in Molecular Autism > 8 (2017) . - 54p.
Mots-clés : Autism Clinical phenotype Dyrk1a Disruptive mutation Genetic syndrome Genetically defined subtype Index. décimale : PER Périodiques Résumé : BACKGROUND: DYRK1A is a gene recurrently disrupted in 0.1-0.5% of the ASD population. A growing number of case reports with DYRK1A haploinsufficiency exhibit common phenotypic features including microcephaly, intellectual disability, speech delay, and facial dysmorphisms. METHODS: Phenotypic information from previously published DYRK1A cases (n = 51) and participants in an ongoing study at the University of Washington (UW, n = 10) were compiled. Frequencies of recurrent phenotypic features in this population were compared to features observed in a large sample with idiopathic ASD from the Simons Simplex Collection (n = 1981). UW DYRK1A cases were further characterized quantitatively and compared to a randomly subsampled set of idiopathic ASD cases matched on age and gender (n = 10) and to cases with an ASD-associated disruptive mutation to CHD8 (n = 12). Contribution of familial genetic background to clinical heterogeneity was assessed by comparing head circumference, IQ, and ASD-related symptoms of UW DYRK1A cases to their unaffected parents. RESULTS: DYRK1A haploinsufficiency results in a common phenotypic profile including intellectual disability, speech and motor difficulties, microcephaly, feeding difficulties, and vision abnormalities. Eighty-nine percent of DYRK1A cases ascertained for ASD presented with a constellation of five or more of these symptoms. When compared quantitatively, DYRK1A cases presented with significantly lower IQ and adaptive functioning compared to idiopathic cases and significantly smaller head size compared to both idiopathic and CHD8 cases. Phenotypic variability in parental head circumference, IQ, and ASD-related symptoms corresponded to observed variability in affected child phenotype. CONCLUSIONS: Results confirm a core clinical phenotype for DYRK1A disruptions, with a combination of features that is distinct from idiopathic ASD. Cases with DYRK1A mutations are also distinguishable from disruptive mutations to CHD8 by head size. Measurable, quantitative characterization of DYRK1A haploinsufficiency illuminates clinical variability, which may be, in part, due to familial genetic background. En ligne : http://dx.doi.org/10.1186/s13229-017-0173-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=330 Practitioner Review: Self-injurious behaviour in children with developmental delay / Chris OLIVER in Journal of Child Psychology and Psychiatry, 56-10 (October 2015)
[article]
Titre : Practitioner Review: Self-injurious behaviour in children with developmental delay Type de document : Texte imprimé et/ou numérique Auteurs : Chris OLIVER, Auteur ; Caroline RICHARDS, Auteur Article en page(s) : p.1042-1054 Langues : Anglais (eng) Mots-clés : Self-injury applied behaviour analysis autism spectrum disorder genetic syndrome behavioural phenotype behaviour dysregulation intellectual disability Index. décimale : PER Périodiques Résumé : Background Self-injurious behaviour is shown by a significant minority of children with developmental delay and has a substantial impact on child and carer wellbeing. Characteristics such as a greater degree of intellectual disability, autism spectrum disorder, some genetic syndromes and repetitive and impulsive behaviours are positively associated with self-injury. Prevalence generally increases with age into midadulthood and the behaviour is notably persistent. Scope In this review, we discuss the dominant causal theory of self-injury which draws on the principles of operant learning. We evaluate the utility of this theory to account for all empirical observations of self-injury. Findings A model of self-injury is presented that extends a previous model described by Guess and Carr. The new model integrates child characteristics and operant learning principles in a phenotype × environment paradigm to explain the variance in developmental trajectory of the severity of self-injury. Conclusions Behaviour dysregulation, as evidenced by the associations between self-injury, self-restraint, repetitive and impulsive behaviours, is identified as potentially influencing the severity and persistence of self-injury. Risk markers for self-injury are identified and the extended model indicates points of intervention and highlights the possibility of risk-related, targeted early intervention. The need for increased training of practitioners in the delivery of demonstrably effective interventions for self-injury is identified. En ligne : http://dx.doi.org/10.1111/jcpp.12425 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=269
in Journal of Child Psychology and Psychiatry > 56-10 (October 2015) . - p.1042-1054[article] Practitioner Review: Self-injurious behaviour in children with developmental delay [Texte imprimé et/ou numérique] / Chris OLIVER, Auteur ; Caroline RICHARDS, Auteur . - p.1042-1054.
Langues : Anglais (eng)
in Journal of Child Psychology and Psychiatry > 56-10 (October 2015) . - p.1042-1054
Mots-clés : Self-injury applied behaviour analysis autism spectrum disorder genetic syndrome behavioural phenotype behaviour dysregulation intellectual disability Index. décimale : PER Périodiques Résumé : Background Self-injurious behaviour is shown by a significant minority of children with developmental delay and has a substantial impact on child and carer wellbeing. Characteristics such as a greater degree of intellectual disability, autism spectrum disorder, some genetic syndromes and repetitive and impulsive behaviours are positively associated with self-injury. Prevalence generally increases with age into midadulthood and the behaviour is notably persistent. Scope In this review, we discuss the dominant causal theory of self-injury which draws on the principles of operant learning. We evaluate the utility of this theory to account for all empirical observations of self-injury. Findings A model of self-injury is presented that extends a previous model described by Guess and Carr. The new model integrates child characteristics and operant learning principles in a phenotype × environment paradigm to explain the variance in developmental trajectory of the severity of self-injury. Conclusions Behaviour dysregulation, as evidenced by the associations between self-injury, self-restraint, repetitive and impulsive behaviours, is identified as potentially influencing the severity and persistence of self-injury. Risk markers for self-injury are identified and the extended model indicates points of intervention and highlights the possibility of risk-related, targeted early intervention. The need for increased training of practitioners in the delivery of demonstrably effective interventions for self-injury is identified. En ligne : http://dx.doi.org/10.1111/jcpp.12425 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=269