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Auteur C. FARMER |
Documents disponibles écrits par cet auteur (6)



Age of walking and intellectual ability in autism spectrum disorder and other neurodevelopmental disorders: a population-based study / A. HAVDAHL in Journal of Child Psychology and Psychiatry, 62-9 (September 2021)
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Titre : Age of walking and intellectual ability in autism spectrum disorder and other neurodevelopmental disorders: a population-based study Type de document : Texte imprimé et/ou numérique Auteurs : A. HAVDAHL, Auteur ; C. FARMER, Auteur ; Synnve SCHJØLBERG, Auteur ; A. S. ØYEN, Auteur ; P. SURÉN, Auteur ; T. REICHBORN-KJENNERUD, Auteur ; P. MAGNUS, Auteur ; Michaeline BRESNAHAN, Auteur ; M. HORNIG, Auteur ; E. SUSSER, Auteur ; W. I. LIPKIN, Auteur ; C. LORD, Auteur ; C. STOLTENBERG, Auteur ; A. THURM, Auteur ; Somer L. BISHOP, Auteur Article en page(s) : p.1070-1078 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/epidemiology Child Cohort Studies Humans Intellectual Disability/epidemiology Neurodevelopmental Disorders/epidemiology Walking Intellectual disability MoBa epidemiology gross motor milestones late walking All profits from their research are donated to charity. The other authors report no conflicts of interest. Index. décimale : PER Périodiques Résumé : BACKGROUND: Delayed walking is common in intellectual disability (ID) but may be less common when ID occurs with autism spectrum disorder (ASD). Previous studies examining this were limited by reliance on clinical samples and exclusion of children with severe motor deficits. OBJECTIVE: To examine in a population-based sample if age of walking is differentially related to intellectual ability in children with ASD versus other neurodevelopmental disorders (NDD). METHODS: Participants were from the nested Autism Birth Cohort Study of the Norwegian Mother, Father and Child Cohort Study (MoBa). Cox proportional hazards regression assessed if diagnosis (ASD n = 212 vs. NDD n = 354), continuous nonverbal IQ, and their interaction, were associated with continuous age of walking. RESULTS: The relationship between nonverbal IQ and age of walking was stronger for NDD than for ASD (Group × nonverbal IQ interaction, ?(2) = 13.93, p = .0002). This interaction was characterized by a 21% decrease in the likelihood of walking onset at any given time during the observation period per 10-point decrease in nonverbal IQ (hazard ratio = 0.79, 95% CI: 0.78-0.85) in the NDD group compared to 8% (hazard ratio = 0.92, 95% CI: 0.86-0.98) in the ASD group. CONCLUSIONS: The finding that age of walking is less strongly related to low intellectual ability in children with ASD than in children without other NDDs supports the hypothesis that ID in ASD may result from heterogeneous developmental pathways. Late walking may be a useful stratification variable in etiological research focused on ASD and other NDDs. En ligne : http://dx.doi.org/10.1111/jcpp.13369 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=456
in Journal of Child Psychology and Psychiatry > 62-9 (September 2021) . - p.1070-1078[article] Age of walking and intellectual ability in autism spectrum disorder and other neurodevelopmental disorders: a population-based study [Texte imprimé et/ou numérique] / A. HAVDAHL, Auteur ; C. FARMER, Auteur ; Synnve SCHJØLBERG, Auteur ; A. S. ØYEN, Auteur ; P. SURÉN, Auteur ; T. REICHBORN-KJENNERUD, Auteur ; P. MAGNUS, Auteur ; Michaeline BRESNAHAN, Auteur ; M. HORNIG, Auteur ; E. SUSSER, Auteur ; W. I. LIPKIN, Auteur ; C. LORD, Auteur ; C. STOLTENBERG, Auteur ; A. THURM, Auteur ; Somer L. BISHOP, Auteur . - p.1070-1078.
Langues : Anglais (eng)
in Journal of Child Psychology and Psychiatry > 62-9 (September 2021) . - p.1070-1078
Mots-clés : Autism Spectrum Disorder/epidemiology Child Cohort Studies Humans Intellectual Disability/epidemiology Neurodevelopmental Disorders/epidemiology Walking Intellectual disability MoBa epidemiology gross motor milestones late walking All profits from their research are donated to charity. The other authors report no conflicts of interest. Index. décimale : PER Périodiques Résumé : BACKGROUND: Delayed walking is common in intellectual disability (ID) but may be less common when ID occurs with autism spectrum disorder (ASD). Previous studies examining this were limited by reliance on clinical samples and exclusion of children with severe motor deficits. OBJECTIVE: To examine in a population-based sample if age of walking is differentially related to intellectual ability in children with ASD versus other neurodevelopmental disorders (NDD). METHODS: Participants were from the nested Autism Birth Cohort Study of the Norwegian Mother, Father and Child Cohort Study (MoBa). Cox proportional hazards regression assessed if diagnosis (ASD n = 212 vs. NDD n = 354), continuous nonverbal IQ, and their interaction, were associated with continuous age of walking. RESULTS: The relationship between nonverbal IQ and age of walking was stronger for NDD than for ASD (Group × nonverbal IQ interaction, ?(2) = 13.93, p = .0002). This interaction was characterized by a 21% decrease in the likelihood of walking onset at any given time during the observation period per 10-point decrease in nonverbal IQ (hazard ratio = 0.79, 95% CI: 0.78-0.85) in the NDD group compared to 8% (hazard ratio = 0.92, 95% CI: 0.86-0.98) in the ASD group. CONCLUSIONS: The finding that age of walking is less strongly related to low intellectual ability in children with ASD than in children without other NDDs supports the hypothesis that ID in ASD may result from heterogeneous developmental pathways. Late walking may be a useful stratification variable in etiological research focused on ASD and other NDDs. En ligne : http://dx.doi.org/10.1111/jcpp.13369 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=456 Characterization of autism spectrum disorder and neurodevelopmental profiles in youth with XYY syndrome / L. JOSEPH in Journal of Neurodevelopmental Disorders, 10-1 (December 2018)
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Titre : Characterization of autism spectrum disorder and neurodevelopmental profiles in youth with XYY syndrome Type de document : Texte imprimé et/ou numérique Auteurs : L. JOSEPH, Auteur ; C. FARMER, Auteur ; C. CHLEBOWSKI, Auteur ; L. HENRY, Auteur ; A. FISH, Auteur ; C. MANKIW, Auteur ; A. XENOPHONTOS, Auteur ; L. CLASEN, Auteur ; B. SAULS, Auteur ; J. SEIDLITZ, Auteur ; Jonathan D. BLUMENTHAL, Auteur ; E. TORRES, Auteur ; A. THURM, Auteur ; A. RAZNAHAN, Auteur Année de publication : 2018 Article en page(s) : 30 p. Langues : Anglais (eng) Mots-clés : Adaptive behavior Autism spectrum disorder symptoms Cognitive functioning Learning disabilities Sex chromosome aneuploidies Index. décimale : PER Périodiques Résumé : BACKGROUND: XYY syndrome is a sex chromosome aneuploidy that occurs in ~ 1/850 male births and is associated with increased risk for neurodevelopmental difficulties. However, the profile of neurodevelopmental impairments, including symptoms of autism spectrum disorder (ASD) in XYY remains poorly understood. This gap in knowledge has persisted in part due to lack of access to patient cohorts with dense and homogeneous phenotypic data. METHODS: We evaluated a single-center cohort of 64 individuals with XYY aged 5-25 years, using a standardized battery of cognitive and behavioral assessments spanning developmental milestones, IQ, adaptive behavior, academic achievement, behavioral problems, and gold-standard diagnostic instruments for ASD. Our goals were to (i) detail the neurodevelopmental profile of XYY with a focus on ASD diagnostic rates and symptom profiles, (ii) screen phenotypes for potential ascertainment bias effects by contrasting pre- vs. postnatally diagnosed XYY subgroups, and (iii) define major modules of phenotypic variation using graph-theoretical analysis. RESULTS: Although there was marked inter-individual variability, the average profile was characterized by some degree of developmental delay, and decreased IQ and adaptive behavior. Impairments were most pronounced for language and socio-communicative functioning. The rate of ASD was 14%, and these individuals exhibited autism symptom profiles resembling those observed in ASD without XYY. Most neurodevelopmental dimensions showed milder impairment among pre- vs. postnatally diagnosed individuals, with clinically meaningful differences in verbal IQ. Feature network analysis revealed three reliably separable modules comprising (i) cognition and academic achievement, (ii) broad domain psychopathology and adaptive behavior, and (iii) ASD-related features. CONCLUSIONS: By adding granularity to our understanding of neurodevelopmental difficulties in XYY, these findings assist targeted clinical assessment of newly identified cases, motivate greater provision of specialized multidisciplinary support, and inform future efforts to integrate behavioral phenotypes in XYY with neurobiology. TRIAL REGISTRATIONS: ClinicalTrials.gov NCT00001246 , "89-M-0006: Brain Imaging of Childhood Onset Psychiatric Disorders, Endocrine Disorders and Healthy Controls." En ligne : http://dx.doi.org/10.1186/s11689-018-9248-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386
in Journal of Neurodevelopmental Disorders > 10-1 (December 2018) . - 30 p.[article] Characterization of autism spectrum disorder and neurodevelopmental profiles in youth with XYY syndrome [Texte imprimé et/ou numérique] / L. JOSEPH, Auteur ; C. FARMER, Auteur ; C. CHLEBOWSKI, Auteur ; L. HENRY, Auteur ; A. FISH, Auteur ; C. MANKIW, Auteur ; A. XENOPHONTOS, Auteur ; L. CLASEN, Auteur ; B. SAULS, Auteur ; J. SEIDLITZ, Auteur ; Jonathan D. BLUMENTHAL, Auteur ; E. TORRES, Auteur ; A. THURM, Auteur ; A. RAZNAHAN, Auteur . - 2018 . - 30 p.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 10-1 (December 2018) . - 30 p.
Mots-clés : Adaptive behavior Autism spectrum disorder symptoms Cognitive functioning Learning disabilities Sex chromosome aneuploidies Index. décimale : PER Périodiques Résumé : BACKGROUND: XYY syndrome is a sex chromosome aneuploidy that occurs in ~ 1/850 male births and is associated with increased risk for neurodevelopmental difficulties. However, the profile of neurodevelopmental impairments, including symptoms of autism spectrum disorder (ASD) in XYY remains poorly understood. This gap in knowledge has persisted in part due to lack of access to patient cohorts with dense and homogeneous phenotypic data. METHODS: We evaluated a single-center cohort of 64 individuals with XYY aged 5-25 years, using a standardized battery of cognitive and behavioral assessments spanning developmental milestones, IQ, adaptive behavior, academic achievement, behavioral problems, and gold-standard diagnostic instruments for ASD. Our goals were to (i) detail the neurodevelopmental profile of XYY with a focus on ASD diagnostic rates and symptom profiles, (ii) screen phenotypes for potential ascertainment bias effects by contrasting pre- vs. postnatally diagnosed XYY subgroups, and (iii) define major modules of phenotypic variation using graph-theoretical analysis. RESULTS: Although there was marked inter-individual variability, the average profile was characterized by some degree of developmental delay, and decreased IQ and adaptive behavior. Impairments were most pronounced for language and socio-communicative functioning. The rate of ASD was 14%, and these individuals exhibited autism symptom profiles resembling those observed in ASD without XYY. Most neurodevelopmental dimensions showed milder impairment among pre- vs. postnatally diagnosed individuals, with clinically meaningful differences in verbal IQ. Feature network analysis revealed three reliably separable modules comprising (i) cognition and academic achievement, (ii) broad domain psychopathology and adaptive behavior, and (iii) ASD-related features. CONCLUSIONS: By adding granularity to our understanding of neurodevelopmental difficulties in XYY, these findings assist targeted clinical assessment of newly identified cases, motivate greater provision of specialized multidisciplinary support, and inform future efforts to integrate behavioral phenotypes in XYY with neurobiology. TRIAL REGISTRATIONS: ClinicalTrials.gov NCT00001246 , "89-M-0006: Brain Imaging of Childhood Onset Psychiatric Disorders, Endocrine Disorders and Healthy Controls." En ligne : http://dx.doi.org/10.1186/s11689-018-9248-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386 Classifying and characterizing the development of adaptive behavior in a naturalistic longitudinal study of young children with autism / C. FARMER in Journal of Neurodevelopmental Disorders, 10-1 (December 2018)
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Titre : Classifying and characterizing the development of adaptive behavior in a naturalistic longitudinal study of young children with autism Type de document : Texte imprimé et/ou numérique Auteurs : C. FARMER, Auteur ; L. SWINEFORD, Auteur ; Susan E. SWEDO, Auteur ; A. THURM, Auteur Article en page(s) : p.1 Langues : Anglais (eng) Mots-clés : Adaptive behavior Autism spectrum disorders Longitudinal studies Index. décimale : PER Périodiques Résumé : BACKGROUND: Adaptive behavior, or the ability to function independently in ones' environment, is a key phenotypic construct in autism spectrum disorder (ASD). Few studies of the development of adaptive behavior during preschool to school-age are available, though existing data demonstrate that the degree of ability and impairment associated with ASD, and how it manifests over time, is heterogeneous. Growth mixture models are a statistical technique that can help parse this heterogeneity in trajectories. METHODS: Data from an accelerated longitudinal natural history study (n = 105 children with ASD) were subjected to growth mixture model analysis. Children were assessed up to four times between the ages of 3 to 7.99 years. RESULTS: The best fitting model comprised two classes of trajectory on the Adaptive Behavior Composite score of the Vineland Adaptive Behavior Scale, Second Edition-a low and decreasing trajectory (73% of the sample) and a moderate and stable class (27%). CONCLUSIONS: These results partially replicate the classes observed in a previous study of a similarly characterized sample, suggesting that developmental trajectory may indeed serve as a phenotype. Further, the ability to predict which trajectory a child is likely to follow will be useful in planning for clinical trials. En ligne : http://dx.doi.org/10.1186/s11689-017-9222-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=350
in Journal of Neurodevelopmental Disorders > 10-1 (December 2018) . - p.1[article] Classifying and characterizing the development of adaptive behavior in a naturalistic longitudinal study of young children with autism [Texte imprimé et/ou numérique] / C. FARMER, Auteur ; L. SWINEFORD, Auteur ; Susan E. SWEDO, Auteur ; A. THURM, Auteur . - p.1.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 10-1 (December 2018) . - p.1
Mots-clés : Adaptive behavior Autism spectrum disorders Longitudinal studies Index. décimale : PER Périodiques Résumé : BACKGROUND: Adaptive behavior, or the ability to function independently in ones' environment, is a key phenotypic construct in autism spectrum disorder (ASD). Few studies of the development of adaptive behavior during preschool to school-age are available, though existing data demonstrate that the degree of ability and impairment associated with ASD, and how it manifests over time, is heterogeneous. Growth mixture models are a statistical technique that can help parse this heterogeneity in trajectories. METHODS: Data from an accelerated longitudinal natural history study (n = 105 children with ASD) were subjected to growth mixture model analysis. Children were assessed up to four times between the ages of 3 to 7.99 years. RESULTS: The best fitting model comprised two classes of trajectory on the Adaptive Behavior Composite score of the Vineland Adaptive Behavior Scale, Second Edition-a low and decreasing trajectory (73% of the sample) and a moderate and stable class (27%). CONCLUSIONS: These results partially replicate the classes observed in a previous study of a similarly characterized sample, suggesting that developmental trajectory may indeed serve as a phenotype. Further, the ability to predict which trajectory a child is likely to follow will be useful in planning for clinical trials. En ligne : http://dx.doi.org/10.1186/s11689-017-9222-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=350 Development, behavior, and biomarker characterization of Smith-Lemli-Opitz syndrome: an update / A. THURM in Journal of Neurodevelopmental Disorders, 8-1 (December 2016)
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Titre : Development, behavior, and biomarker characterization of Smith-Lemli-Opitz syndrome: an update Type de document : Texte imprimé et/ou numérique Auteurs : A. THURM, Auteur ; E. TIERNEY, Auteur ; C. FARMER, Auteur ; P. ALBERT, Auteur ; L. JOSEPH, Auteur ; Susan E. SWEDO, Auteur ; S. BIANCONI, Auteur ; I. BUKELIS, Auteur ; C. WHEELER, Auteur ; G. SARPHARE, Auteur ; D. LANHAM, Auteur ; C. A. WASSIF, Auteur ; F. D. PORTER, Auteur Article en page(s) : p.12 Langues : Anglais (eng) Mots-clés : Autism Developmental delay Smith-Lemli-Opitz Sterols Index. décimale : PER Périodiques Résumé : BACKGROUND: Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive inborn error of cholesterol metabolism syndrome with neurocognitive manifestations. SLOS is the result of mutations in the gene encoding the 7-dehydrocholesterol reductase, which results in the elevation of the cholesterol precursor 7-dehydrocholesterol (7-DHC). Previous reports indicate that intellectual disability, behavioral disturbances, and autism symptoms are frequently part of the SLOS behavioral phenotype. In the current study, we characterize the developmental history and current behavior of 33 individuals with SLOS aged 4 to 23 years and report on biomarkers 7-DHC and 8-DHC in relation to cognition and behavior. METHODS: This was an observational case series, wherein participants with SLOS underwent extensive behavioral evaluation of cognitive function, adaptive function, autism symptoms, and problem behaviors, in addition to parent report of developmental milestones. Serum and CSF were contemporaneously obtained from the majority of participants. RESULTS: Developmental milestones such as walking, talking, and toileting were uniformly delayed. Overall levels of cognitive and adaptive functioning were low; no participant received adaptive behavior scores in the average range, and the mean level of cognitive functioning in the full sample was in the moderate range of impairment. Aggressive behavior was present in nearly half of participants. Although the majority of participants had elevated scores on the gold standard autism diagnostic instruments, only about half of participants received a clinical diagnosis of autism spectrum disorder. Finally, while CSF cholesterol was not found to correlate with cognitive or adaptive functioning, both serum and CSF 7-DHC and 8-DHC (and their ratios with cholesterol) were moderately and negatively correlated with functioning in this group. CONCLUSIONS: A history of developmental delay, followed by intellectual disability, is common in individuals with SLOS. Although autism spectrum disorder appears to be a frequent diagnosis in this population, it is apparent that the low level of functioning observed in SLOS may artificially inflate scores on standard autism assessments. Our findings further support that cholesterol precursors 7-DHC and 8-DHC are important biomarkers of the level of functioning in SLOS, especially regarding cognitive abilities, and thus may be to explore as mediators within the context of treatment trials. TRIAL REGISTRATION: ClinicalTrials.gov, NCT00001721, NCT00064792. En ligne : http://dx.doi.org/10.1186/s11689-016-9145-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=348
in Journal of Neurodevelopmental Disorders > 8-1 (December 2016) . - p.12[article] Development, behavior, and biomarker characterization of Smith-Lemli-Opitz syndrome: an update [Texte imprimé et/ou numérique] / A. THURM, Auteur ; E. TIERNEY, Auteur ; C. FARMER, Auteur ; P. ALBERT, Auteur ; L. JOSEPH, Auteur ; Susan E. SWEDO, Auteur ; S. BIANCONI, Auteur ; I. BUKELIS, Auteur ; C. WHEELER, Auteur ; G. SARPHARE, Auteur ; D. LANHAM, Auteur ; C. A. WASSIF, Auteur ; F. D. PORTER, Auteur . - p.12.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 8-1 (December 2016) . - p.12
Mots-clés : Autism Developmental delay Smith-Lemli-Opitz Sterols Index. décimale : PER Périodiques Résumé : BACKGROUND: Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive inborn error of cholesterol metabolism syndrome with neurocognitive manifestations. SLOS is the result of mutations in the gene encoding the 7-dehydrocholesterol reductase, which results in the elevation of the cholesterol precursor 7-dehydrocholesterol (7-DHC). Previous reports indicate that intellectual disability, behavioral disturbances, and autism symptoms are frequently part of the SLOS behavioral phenotype. In the current study, we characterize the developmental history and current behavior of 33 individuals with SLOS aged 4 to 23 years and report on biomarkers 7-DHC and 8-DHC in relation to cognition and behavior. METHODS: This was an observational case series, wherein participants with SLOS underwent extensive behavioral evaluation of cognitive function, adaptive function, autism symptoms, and problem behaviors, in addition to parent report of developmental milestones. Serum and CSF were contemporaneously obtained from the majority of participants. RESULTS: Developmental milestones such as walking, talking, and toileting were uniformly delayed. Overall levels of cognitive and adaptive functioning were low; no participant received adaptive behavior scores in the average range, and the mean level of cognitive functioning in the full sample was in the moderate range of impairment. Aggressive behavior was present in nearly half of participants. Although the majority of participants had elevated scores on the gold standard autism diagnostic instruments, only about half of participants received a clinical diagnosis of autism spectrum disorder. Finally, while CSF cholesterol was not found to correlate with cognitive or adaptive functioning, both serum and CSF 7-DHC and 8-DHC (and their ratios with cholesterol) were moderately and negatively correlated with functioning in this group. CONCLUSIONS: A history of developmental delay, followed by intellectual disability, is common in individuals with SLOS. Although autism spectrum disorder appears to be a frequent diagnosis in this population, it is apparent that the low level of functioning observed in SLOS may artificially inflate scores on standard autism assessments. Our findings further support that cholesterol precursors 7-DHC and 8-DHC are important biomarkers of the level of functioning in SLOS, especially regarding cognitive abilities, and thus may be to explore as mediators within the context of treatment trials. TRIAL REGISTRATION: ClinicalTrials.gov, NCT00001721, NCT00064792. En ligne : http://dx.doi.org/10.1186/s11689-016-9145-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=348 Patterns of delay in early gross motor and expressive language milestone attainment in probands with genetic conditions versus idiopathic ASD from SFARI registries / J. WICKSTROM in Journal of Child Psychology and Psychiatry, 62-11 (November 2021)
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Titre : Patterns of delay in early gross motor and expressive language milestone attainment in probands with genetic conditions versus idiopathic ASD from SFARI registries Type de document : Texte imprimé et/ou numérique Auteurs : J. WICKSTROM, Auteur ; C. FARMER, Auteur ; LeeAnne GREEN SNYDER, Auteur ; A. R. MITZ, Auteur ; S. J. SANDERS, Auteur ; Somer L. BISHOP, Auteur ; A. THURM, Auteur Article en page(s) : p.1297-1307 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/genetics Autistic Disorder Humans Language Motor Skills Registries copy number variant developmental phenotype intellectual disability Index. décimale : PER Périodiques Résumé : BACKGROUND: Recent large-scale initiatives have led to systematically collected phenotypic data for several rare genetic conditions implicated in autism spectrum disorder (ASD). The onset of developmentally expected skills (e.g. walking, talking) serve as readily quantifiable aspects of the behavioral phenotype. This study's aims were: (a) describe the distribution of ages of attainment of gross motor and expressive language milestones in several rare genetic conditions, and (b) characterize the likelihood of delays in these conditions compared with idiopathic ASD. METHODS: Participants aged 3 years and older were drawn from two Simons Foundation Autism Research Initiative registries that employed consistent phenotyping protocols. Inclusion criteria were a confirmed genetic diagnosis of one of 16 genetic conditions (Simons Searchlight) or absence of known pathogenic genetic findings in individuals with ASD (SPARK). Parent-reported age of acquisition of three gross motor and two expressive language milestones was described and categorized as on-time or delayed, relative to normative expectations. RESULTS: Developmental milestone profiles of probands with genetic conditions were marked by extensive delays (including nonattainment), with highest severity in single gene conditions and more delays than idiopathic ASD in motor skills. Compared with idiopathic ASD, the median odds of delay among the genetic groups were higher by 8.3 times (IQR 5.8-16.3) for sitting, 12.4 times (IQR 5.3-19.5) for crawling, 26.8 times (IQR 7.7-41.1) for walking, 2.7 times (IQR 1.7-5.5) for single words, and 5.7 times (IQR 2.7-18.3) for combined words. CONCLUSIONS: Delays in developmental milestones, particularly in gross motor skills, are frequent and may be among the earliest indicators of differentially affected developmental processes in specific genetically defined conditions associated with ASD, as compared with those with clinical diagnoses of idiopathic ASD. The possibility of different developmental pathways leading to ASD-associated phenotypes should be considered when deciding how to employ specific genetic conditions as models for ASD. En ligne : http://dx.doi.org/10.1111/jcpp.13492 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=456
in Journal of Child Psychology and Psychiatry > 62-11 (November 2021) . - p.1297-1307[article] Patterns of delay in early gross motor and expressive language milestone attainment in probands with genetic conditions versus idiopathic ASD from SFARI registries [Texte imprimé et/ou numérique] / J. WICKSTROM, Auteur ; C. FARMER, Auteur ; LeeAnne GREEN SNYDER, Auteur ; A. R. MITZ, Auteur ; S. J. SANDERS, Auteur ; Somer L. BISHOP, Auteur ; A. THURM, Auteur . - p.1297-1307.
Langues : Anglais (eng)
in Journal of Child Psychology and Psychiatry > 62-11 (November 2021) . - p.1297-1307
Mots-clés : Autism Spectrum Disorder/genetics Autistic Disorder Humans Language Motor Skills Registries copy number variant developmental phenotype intellectual disability Index. décimale : PER Périodiques Résumé : BACKGROUND: Recent large-scale initiatives have led to systematically collected phenotypic data for several rare genetic conditions implicated in autism spectrum disorder (ASD). The onset of developmentally expected skills (e.g. walking, talking) serve as readily quantifiable aspects of the behavioral phenotype. This study's aims were: (a) describe the distribution of ages of attainment of gross motor and expressive language milestones in several rare genetic conditions, and (b) characterize the likelihood of delays in these conditions compared with idiopathic ASD. METHODS: Participants aged 3 years and older were drawn from two Simons Foundation Autism Research Initiative registries that employed consistent phenotyping protocols. Inclusion criteria were a confirmed genetic diagnosis of one of 16 genetic conditions (Simons Searchlight) or absence of known pathogenic genetic findings in individuals with ASD (SPARK). Parent-reported age of acquisition of three gross motor and two expressive language milestones was described and categorized as on-time or delayed, relative to normative expectations. RESULTS: Developmental milestone profiles of probands with genetic conditions were marked by extensive delays (including nonattainment), with highest severity in single gene conditions and more delays than idiopathic ASD in motor skills. Compared with idiopathic ASD, the median odds of delay among the genetic groups were higher by 8.3 times (IQR 5.8-16.3) for sitting, 12.4 times (IQR 5.3-19.5) for crawling, 26.8 times (IQR 7.7-41.1) for walking, 2.7 times (IQR 1.7-5.5) for single words, and 5.7 times (IQR 2.7-18.3) for combined words. CONCLUSIONS: Delays in developmental milestones, particularly in gross motor skills, are frequent and may be among the earliest indicators of differentially affected developmental processes in specific genetically defined conditions associated with ASD, as compared with those with clinical diagnoses of idiopathic ASD. The possibility of different developmental pathways leading to ASD-associated phenotypes should be considered when deciding how to employ specific genetic conditions as models for ASD. En ligne : http://dx.doi.org/10.1111/jcpp.13492 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=456 Talking About Death or Suicide: Prevalence and Clinical Correlates in Youth with Autism Spectrum Disorder in the Psychiatric Inpatient Setting / L. M. HOROWITZ in Journal of Autism and Developmental Disorders, 48-11 (November 2018)
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