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Clinical effectiveness of repetitive transcranial magnetic stimulation treatment in children and adolescents with neurodevelopmental disorders: A systematic review / F. MASUDA in Autism, 23-7 (October 2019)
[article]
Titre : Clinical effectiveness of repetitive transcranial magnetic stimulation treatment in children and adolescents with neurodevelopmental disorders: A systematic review Type de document : Texte imprimé et/ou numérique Auteurs : F. MASUDA, Auteur ; S. NAKAJIMA, Auteur ; T. MIYAZAKI, Auteur ; R. TARUMI, Auteur ; K. OGYU, Auteur ; M. WADA, Auteur ; S. TSUGAWA, Auteur ; P. E. CROARKIN, Auteur ; M. MIMURA, Auteur ; Y. NODA, Auteur Article en page(s) : p.1614-1629 Langues : Anglais (eng) Mots-clés : attention deficit/hyperactivity disorder autism spectrum disorder children and adolescents neurodevelopmental disorders repetitive transcranial magnetic stimulation Index. décimale : PER Périodiques Résumé : Neurodevelopmental disorders, including autism spectrum disorder, are common in children and adolescents, but treatment strategies remain limited. Although repetitive transcranial magnetic stimulation has been studied for neurodevelopmental disorders, there is no clear consensus on its therapeutic effects. This systematic review examined literature on repetitive transcranial magnetic stimulation for children and adolescents with neurodevelopmental disorders published up to 2018 using the PubMed database. The search identified 264 articles and 14 articles met eligibility criteria. Twelve of these studies used conventional repetitive transcranial magnetic stimulation and two studies used theta burst stimulation. No severe adverse effects were reported in these studies. In patients with autism spectrum disorder, low-frequency repetitive transcranial magnetic stimulation and intermittent theta burst stimulation applied to the dorsolateral prefrontal cortex may have therapeutic effects on social functioning and repetitive behaviors. In patients with attention deficit/hyperactivity disorder, low-frequency repetitive transcranial magnetic stimulation applied to the left dorsolateral prefrontal cortex and high-frequency repetitive transcranial magnetic stimulation applied to the right dorsolateral prefrontal cortex may target inattention, hyperactivity, and impulsivity. In patients with tic disorders, low-frequency repetitive transcranial magnetic stimulation applied to the bilateral supplementary motor area improved tic symptom severity. This systematic review suggests that repetitive transcranial magnetic stimulation may be a promising intervention for children and adolescents with neurodevelopmental disorders. The results warrant further large randomized controlled trials of repetitive transcranial magnetic stimulation in children with neurodevelopmental disorders. En ligne : http://dx.doi.org/10.1177/1362361318822502 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=406
in Autism > 23-7 (October 2019) . - p.1614-1629[article] Clinical effectiveness of repetitive transcranial magnetic stimulation treatment in children and adolescents with neurodevelopmental disorders: A systematic review [Texte imprimé et/ou numérique] / F. MASUDA, Auteur ; S. NAKAJIMA, Auteur ; T. MIYAZAKI, Auteur ; R. TARUMI, Auteur ; K. OGYU, Auteur ; M. WADA, Auteur ; S. TSUGAWA, Auteur ; P. E. CROARKIN, Auteur ; M. MIMURA, Auteur ; Y. NODA, Auteur . - p.1614-1629.
Langues : Anglais (eng)
in Autism > 23-7 (October 2019) . - p.1614-1629
Mots-clés : attention deficit/hyperactivity disorder autism spectrum disorder children and adolescents neurodevelopmental disorders repetitive transcranial magnetic stimulation Index. décimale : PER Périodiques Résumé : Neurodevelopmental disorders, including autism spectrum disorder, are common in children and adolescents, but treatment strategies remain limited. Although repetitive transcranial magnetic stimulation has been studied for neurodevelopmental disorders, there is no clear consensus on its therapeutic effects. This systematic review examined literature on repetitive transcranial magnetic stimulation for children and adolescents with neurodevelopmental disorders published up to 2018 using the PubMed database. The search identified 264 articles and 14 articles met eligibility criteria. Twelve of these studies used conventional repetitive transcranial magnetic stimulation and two studies used theta burst stimulation. No severe adverse effects were reported in these studies. In patients with autism spectrum disorder, low-frequency repetitive transcranial magnetic stimulation and intermittent theta burst stimulation applied to the dorsolateral prefrontal cortex may have therapeutic effects on social functioning and repetitive behaviors. In patients with attention deficit/hyperactivity disorder, low-frequency repetitive transcranial magnetic stimulation applied to the left dorsolateral prefrontal cortex and high-frequency repetitive transcranial magnetic stimulation applied to the right dorsolateral prefrontal cortex may target inattention, hyperactivity, and impulsivity. In patients with tic disorders, low-frequency repetitive transcranial magnetic stimulation applied to the bilateral supplementary motor area improved tic symptom severity. This systematic review suggests that repetitive transcranial magnetic stimulation may be a promising intervention for children and adolescents with neurodevelopmental disorders. The results warrant further large randomized controlled trials of repetitive transcranial magnetic stimulation in children with neurodevelopmental disorders. En ligne : http://dx.doi.org/10.1177/1362361318822502 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=406 Brief Report: Delayed Diagnosis of Treatable Inborn Errors of Metabolism in Children with Autism and Other Neurodevelopmental Disorders / M. E. MÁRQUEZ-CARAVEO in Journal of Autism and Developmental Disorders, 51-6 (June 2021)
[article]
Titre : Brief Report: Delayed Diagnosis of Treatable Inborn Errors of Metabolism in Children with Autism and Other Neurodevelopmental Disorders Type de document : Texte imprimé et/ou numérique Auteurs : M. E. MÁRQUEZ-CARAVEO, Auteur ; I. IBARRA-GONZÁLEZ, Auteur ; R. RODRÍGUEZ-VALENTÍN, Auteur ; Miguel Ángel RAMÍREZ-GARCÍA, Auteur ; V. PÉREZ-BARRÓN, Auteur ; E. LAZCANO-PONCE, Auteur ; M. VELA-AMIEVA, Auteur Article en page(s) : p.2124-2131 Langues : Anglais (eng) Mots-clés : Adolescent Autism Spectrum Disorder/complications Child Delayed Diagnosis/statistics & numerical data Female Humans Male Metabolism, Inborn Errors/diagnosis/epidemiology/psychology Mexico/epidemiology Neurodevelopmental Disorders/complications Tandem Mass Spectrometry/methods Autism spectrum disorders Inborn errors of metabolism Intellectual disabilities Metabolic screening Neurodevelopmental disorders Index. décimale : PER Périodiques Résumé : The objective of our study was to evaluate the frequency of treatable inborn errors of metabolism (IEM) in a clinical sample of Mexican children and adolescents with neurodevelopmental disorders (NDD). Amino acids and acylcarnitines in blood samples of 51 unrelated children and adolescents were analyzed by tandem mass spectrometry to detect treatable IEM of small molecules. One patient with isovaleric acidemia and autism spectrum disorder (ASD) and another with beta-ketothiolase deficiency and ASD/intellectual disability/attention-deficit/hyperactivity disorder (ADHD) were diagnosed, indicating an IEM frequency of 3.9% (1:26 subjects). The high frequency of treatable IEM indicates the need to perform a minimum metabolic screening as part of the diagnostic approach for patient with NDD, particularly when newborn screening programs are limited to a few disorders. En ligne : http://dx.doi.org/10.1007/s10803-020-04682-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=452
in Journal of Autism and Developmental Disorders > 51-6 (June 2021) . - p.2124-2131[article] Brief Report: Delayed Diagnosis of Treatable Inborn Errors of Metabolism in Children with Autism and Other Neurodevelopmental Disorders [Texte imprimé et/ou numérique] / M. E. MÁRQUEZ-CARAVEO, Auteur ; I. IBARRA-GONZÁLEZ, Auteur ; R. RODRÍGUEZ-VALENTÍN, Auteur ; Miguel Ángel RAMÍREZ-GARCÍA, Auteur ; V. PÉREZ-BARRÓN, Auteur ; E. LAZCANO-PONCE, Auteur ; M. VELA-AMIEVA, Auteur . - p.2124-2131.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 51-6 (June 2021) . - p.2124-2131
Mots-clés : Adolescent Autism Spectrum Disorder/complications Child Delayed Diagnosis/statistics & numerical data Female Humans Male Metabolism, Inborn Errors/diagnosis/epidemiology/psychology Mexico/epidemiology Neurodevelopmental Disorders/complications Tandem Mass Spectrometry/methods Autism spectrum disorders Inborn errors of metabolism Intellectual disabilities Metabolic screening Neurodevelopmental disorders Index. décimale : PER Périodiques Résumé : The objective of our study was to evaluate the frequency of treatable inborn errors of metabolism (IEM) in a clinical sample of Mexican children and adolescents with neurodevelopmental disorders (NDD). Amino acids and acylcarnitines in blood samples of 51 unrelated children and adolescents were analyzed by tandem mass spectrometry to detect treatable IEM of small molecules. One patient with isovaleric acidemia and autism spectrum disorder (ASD) and another with beta-ketothiolase deficiency and ASD/intellectual disability/attention-deficit/hyperactivity disorder (ADHD) were diagnosed, indicating an IEM frequency of 3.9% (1:26 subjects). The high frequency of treatable IEM indicates the need to perform a minimum metabolic screening as part of the diagnostic approach for patient with NDD, particularly when newborn screening programs are limited to a few disorders. En ligne : http://dx.doi.org/10.1007/s10803-020-04682-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=452 Early manifestations of genetic risk for neurodevelopmental disorders / Ragna Bugge ASKELAND in Journal of Child Psychology and Psychiatry, 63-7 (July 2022)
[article]
Titre : Early manifestations of genetic risk for neurodevelopmental disorders Type de document : Texte imprimé et/ou numérique Auteurs : Ragna Bugge ASKELAND, Auteur ; Laurie J. HANNIGAN, Auteur ; Helga ASK, Auteur ; Ziada AYORECH, Auteur ; Martin TESLI, Auteur ; Elizabeth CORFIELD, Auteur ; Per MAGNUS, Auteur ; Pål Rasmus NJØLSTAD, Auteur ; Ole A. ANDREASSEN, Auteur ; George DAVEY SMITH, Auteur ; Ted REICHBORN-KJENNERUD, Auteur ; Alexandra HAVDAHL, Auteur Article en page(s) : p.810-819 Langues : Anglais (eng) Mots-clés : Attention Deficit Disorder with Hyperactivity/complications/epidemiology/genetics Autism Spectrum Disorder/complications/epidemiology/genetics Child Child, Preschool Cohort Studies Female Humans Male Mothers Neurodevelopmental Disorders/complications/epidemiology/genetics Risk Factors Adhd MoBa Polygenic risk score autism hyperactivity inattention language and motor difficulties neurodevelopmental disorders repetitive behavior schizophrenia social communication Index. décimale : PER Périodiques Résumé : BACKGROUND: Attention deficit/hyperactivity disorder (ADHD), autism spectrum disorder (autism) and schizophrenia are highly heritable neurodevelopmental disorders, affecting the lives of many individuals. It is important to increase our understanding of how the polygenic risk for neurodevelopmental disorders manifests during childhood in boys and girls. METHODS: Polygenic risk scores (PRS) for ADHD, autism and schizophrenia were calculated in a subsample of 15?205 children from the Norwegian Mother, Father and Child Cohort Study (MoBa). Mother-reported traits of repetitive behavior, social communication, language and motor difficulties, hyperactivity and inattention were measured in children at 6 and 18?months, 3, 5 and 8?years. Linear regression models in a multigroup framework were used to investigate associations between the three PRS and dimensional trait measures in MoBa, using sex as a grouping variable. RESULTS: Before the age of 2, the ADHD PRS was robustly associated with hyperactivity and inattention, with increasing strength up to 8?years, and with language difficulties at age 5 and 8. The autism PRS was robustly associated with language difficulties at 18?months, motor difficulties at 36?months, and hyperactivity and inattention at 8?years. We did not identify robust associations for the schizophrenia PRS. In general, the PRS associations were similar in boys and girls. The association between ADHD PRS and hyperactivity at 18?months was, however, stronger in boys. CONCLUSIONS: Polygenic risk for autism and ADHD in the general population manifests early in childhood and broadly across behavioral measures of neurodevelopmental traits. En ligne : http://dx.doi.org/10.1111/jcpp.13528 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=477
in Journal of Child Psychology and Psychiatry > 63-7 (July 2022) . - p.810-819[article] Early manifestations of genetic risk for neurodevelopmental disorders [Texte imprimé et/ou numérique] / Ragna Bugge ASKELAND, Auteur ; Laurie J. HANNIGAN, Auteur ; Helga ASK, Auteur ; Ziada AYORECH, Auteur ; Martin TESLI, Auteur ; Elizabeth CORFIELD, Auteur ; Per MAGNUS, Auteur ; Pål Rasmus NJØLSTAD, Auteur ; Ole A. ANDREASSEN, Auteur ; George DAVEY SMITH, Auteur ; Ted REICHBORN-KJENNERUD, Auteur ; Alexandra HAVDAHL, Auteur . - p.810-819.
Langues : Anglais (eng)
in Journal of Child Psychology and Psychiatry > 63-7 (July 2022) . - p.810-819
Mots-clés : Attention Deficit Disorder with Hyperactivity/complications/epidemiology/genetics Autism Spectrum Disorder/complications/epidemiology/genetics Child Child, Preschool Cohort Studies Female Humans Male Mothers Neurodevelopmental Disorders/complications/epidemiology/genetics Risk Factors Adhd MoBa Polygenic risk score autism hyperactivity inattention language and motor difficulties neurodevelopmental disorders repetitive behavior schizophrenia social communication Index. décimale : PER Périodiques Résumé : BACKGROUND: Attention deficit/hyperactivity disorder (ADHD), autism spectrum disorder (autism) and schizophrenia are highly heritable neurodevelopmental disorders, affecting the lives of many individuals. It is important to increase our understanding of how the polygenic risk for neurodevelopmental disorders manifests during childhood in boys and girls. METHODS: Polygenic risk scores (PRS) for ADHD, autism and schizophrenia were calculated in a subsample of 15?205 children from the Norwegian Mother, Father and Child Cohort Study (MoBa). Mother-reported traits of repetitive behavior, social communication, language and motor difficulties, hyperactivity and inattention were measured in children at 6 and 18?months, 3, 5 and 8?years. Linear regression models in a multigroup framework were used to investigate associations between the three PRS and dimensional trait measures in MoBa, using sex as a grouping variable. RESULTS: Before the age of 2, the ADHD PRS was robustly associated with hyperactivity and inattention, with increasing strength up to 8?years, and with language difficulties at age 5 and 8. The autism PRS was robustly associated with language difficulties at 18?months, motor difficulties at 36?months, and hyperactivity and inattention at 8?years. We did not identify robust associations for the schizophrenia PRS. In general, the PRS associations were similar in boys and girls. The association between ADHD PRS and hyperactivity at 18?months was, however, stronger in boys. CONCLUSIONS: Polygenic risk for autism and ADHD in the general population manifests early in childhood and broadly across behavioral measures of neurodevelopmental traits. En ligne : http://dx.doi.org/10.1111/jcpp.13528 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=477 Familial and genetic associations between autism spectrum disorder and other neurodevelopmental and psychiatric disorders / L. GHIRARDI in Journal of Child Psychology and Psychiatry, 62-11 (November 2021)
[article]
Titre : Familial and genetic associations between autism spectrum disorder and other neurodevelopmental and psychiatric disorders Type de document : Texte imprimé et/ou numérique Auteurs : L. GHIRARDI, Auteur ; R. KUJA-HALKOLA, Auteur ; Agnieszka BUTWICKA, Auteur ; J. MARTIN, Auteur ; H. LARSSON, Auteur ; B. M. D'ONOFRIO, Auteur ; P. LICHTENSTEIN, Auteur ; M. J. TAYLOR, Auteur Article en page(s) : p.1274-1284 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/epidemiology/genetics Cohort Studies Comorbidity Humans Intellectual Disability/epidemiology/genetics Neurodevelopmental Disorders/epidemiology/genetics Autism spectrum disorder family based study genetic association neurodevelopmental disorders Index. décimale : PER Périodiques Résumé : BACKGROUND: Familial and genetic associations between autism spectrum disorder (ASD) and other neurodevelopmental and psychiatric disorders have been reported, sometimes with conflicting results. We estimated familial and genetic associations between ASD and nine disorder groups, and explored differences in these associations for ASD in the context of intellectual disability, epilepsy, chromosomal abnormalities, and congenital malformations. METHODS: Individuals born between 1985 and 2009 living in Sweden on their seventh birthday were linked to their biological parents in order to identify different types of relatives. We retrieved information on all the disorders considered from the National Patient Register. Logistic regression was used to estimate the familial association between ASD and other neurodevelopmental and psychiatric disorders in the different groups of relatives. Structural equation modeling was used to estimate phenotypic (r(p) ) and genetic associations (r(g) ), as well as the contribution of genetic influences to r(p) . RESULTS: The study included 2,398,608 individuals. Among relatives of individuals diagnosed with ASD, there was an increased risk of the disorders considered, compared to relatives of individuals who were not diagnosed with ASD. Stronger associations were detected for ASD without any additional diagnosis of intellectual disability, epilepsy, chromosomal abnormalities, and congenital malformations. The strongest genetic correlation was estimated between ASD and other neurodevelopmental disorders (r(g) = 0.73; 95% CI = 0.66-0.79). Moderate genetic correlations were estimated for anxiety disorders (r(g) = 0.47; 95% CI = 0.33-0.61), depression (r(g) = 0.52; 95% CI = 0.37-0.66), and intentional self-harm (r(g) = 0.54; 95% CI = 0.36-0.71). CONCLUSIONS: ASD shows familial and genetic association not only with other neurodevelopmental disorders, but also with other psychiatric disorders, such as anxiety, depression, and intentional self-harm. Family history of ASD comorbid with intellectual disability, epilepsy, congenital malformations, or chromosomal abnormalities is less related to other psychiatric disorders, potentially suggesting a different etiology for this subgroup of patients. En ligne : http://dx.doi.org/10.1111/jcpp.13508 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.1274-1284[article] Familial and genetic associations between autism spectrum disorder and other neurodevelopmental and psychiatric disorders [Texte imprimé et/ou numérique] / L. GHIRARDI, Auteur ; R. KUJA-HALKOLA, Auteur ; Agnieszka BUTWICKA, Auteur ; J. MARTIN, Auteur ; H. LARSSON, Auteur ; B. M. D'ONOFRIO, Auteur ; P. LICHTENSTEIN, Auteur ; M. J. TAYLOR, Auteur . - p.1274-1284.
Langues : Anglais (eng)
in Journal of Child Psychology and Psychiatry > 62-11 (November 2021) . - p.1274-1284
Mots-clés : Autism Spectrum Disorder/epidemiology/genetics Cohort Studies Comorbidity Humans Intellectual Disability/epidemiology/genetics Neurodevelopmental Disorders/epidemiology/genetics Autism spectrum disorder family based study genetic association neurodevelopmental disorders Index. décimale : PER Périodiques Résumé : BACKGROUND: Familial and genetic associations between autism spectrum disorder (ASD) and other neurodevelopmental and psychiatric disorders have been reported, sometimes with conflicting results. We estimated familial and genetic associations between ASD and nine disorder groups, and explored differences in these associations for ASD in the context of intellectual disability, epilepsy, chromosomal abnormalities, and congenital malformations. METHODS: Individuals born between 1985 and 2009 living in Sweden on their seventh birthday were linked to their biological parents in order to identify different types of relatives. We retrieved information on all the disorders considered from the National Patient Register. Logistic regression was used to estimate the familial association between ASD and other neurodevelopmental and psychiatric disorders in the different groups of relatives. Structural equation modeling was used to estimate phenotypic (r(p) ) and genetic associations (r(g) ), as well as the contribution of genetic influences to r(p) . RESULTS: The study included 2,398,608 individuals. Among relatives of individuals diagnosed with ASD, there was an increased risk of the disorders considered, compared to relatives of individuals who were not diagnosed with ASD. Stronger associations were detected for ASD without any additional diagnosis of intellectual disability, epilepsy, chromosomal abnormalities, and congenital malformations. The strongest genetic correlation was estimated between ASD and other neurodevelopmental disorders (r(g) = 0.73; 95% CI = 0.66-0.79). Moderate genetic correlations were estimated for anxiety disorders (r(g) = 0.47; 95% CI = 0.33-0.61), depression (r(g) = 0.52; 95% CI = 0.37-0.66), and intentional self-harm (r(g) = 0.54; 95% CI = 0.36-0.71). CONCLUSIONS: ASD shows familial and genetic association not only with other neurodevelopmental disorders, but also with other psychiatric disorders, such as anxiety, depression, and intentional self-harm. Family history of ASD comorbid with intellectual disability, epilepsy, congenital malformations, or chromosomal abnormalities is less related to other psychiatric disorders, potentially suggesting a different etiology for this subgroup of patients. En ligne : http://dx.doi.org/10.1111/jcpp.13508 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=456 Genetic Testing in Patients with Neurodevelopmental Disorders: Experience of 511 Patients at Cincinnati Children's Hospital Medical Center / Xiaoli DU in Journal of Autism and Developmental Disorders, 52-11 (November 2022)
[article]
Titre : Genetic Testing in Patients with Neurodevelopmental Disorders: Experience of 511 Patients at Cincinnati Children's Hospital Medical Center Type de document : Texte imprimé et/ou numérique Auteurs : Xiaoli DU, Auteur ; Jennifer Elaine GLASS, Auteur ; Stephanie BALOW, Auteur ; Lisa M. DYER, Auteur ; Pamela A. RATHBUN, Auteur ; Qiaoning GUAN, Auteur ; Jie LIU, Auteur ; Yaning WU, Auteur ; D. Brian DAWSON, Auteur ; Lauren WALTERS-SEN, Auteur ; Teresa A. SMOLAREK, Auteur ; Wenying ZHANG, Auteur Article en page(s) : p.4828-4842 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/diagnosis Child DNA Copy Number Variations Female Fragile X Mental Retardation Protein/genetics Fragile X Syndrome/diagnosis/genetics Genetic Testing Hospitals Humans Male Mutation Neurodevelopmental Disorders/diagnosis/genetics Retrospective Studies Trinucleotide Repeat Expansion Autism spectrum disorder (ASD) Copy number variant (CNV) Fragile X Mecp2 Neurodevelopmental disorders Index. décimale : PER Périodiques Résumé : Our institution developed and continuously improved a Neurodevelopmental Reflex (NDR) algorithm to help physicians with genetic test ordering for neurodevelopmental disorders (NDDs). To assess its performance, we performed a retrospective study of 511 patients tested through NDR from 2018 to 2019. SNP Microarray identified pathogenic/likely pathogenic copy number variations in 27/511 cases (5.28%). Among the 484 patients tested for Fragile X FMR1 CGG repeats, a diagnosis (0.20%) was established for one male mosaic for a full mutation, a premutation, and a one-CGG allele. Within the 101 normocephalic female patients tested for MECP2, two patients were found to carry pathogenic variants (1.98%). This retrospective study suggested the NDR algorithm effectively established diagnoses for patients with NDDs with a yield of 5.87%. En ligne : http://dx.doi.org/10.1007/s10803-021-05337-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=489
in Journal of Autism and Developmental Disorders > 52-11 (November 2022) . - p.4828-4842[article] Genetic Testing in Patients with Neurodevelopmental Disorders: Experience of 511 Patients at Cincinnati Children's Hospital Medical Center [Texte imprimé et/ou numérique] / Xiaoli DU, Auteur ; Jennifer Elaine GLASS, Auteur ; Stephanie BALOW, Auteur ; Lisa M. DYER, Auteur ; Pamela A. RATHBUN, Auteur ; Qiaoning GUAN, Auteur ; Jie LIU, Auteur ; Yaning WU, Auteur ; D. Brian DAWSON, Auteur ; Lauren WALTERS-SEN, Auteur ; Teresa A. SMOLAREK, Auteur ; Wenying ZHANG, Auteur . - p.4828-4842.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 52-11 (November 2022) . - p.4828-4842
Mots-clés : Autism Spectrum Disorder/diagnosis Child DNA Copy Number Variations Female Fragile X Mental Retardation Protein/genetics Fragile X Syndrome/diagnosis/genetics Genetic Testing Hospitals Humans Male Mutation Neurodevelopmental Disorders/diagnosis/genetics Retrospective Studies Trinucleotide Repeat Expansion Autism spectrum disorder (ASD) Copy number variant (CNV) Fragile X Mecp2 Neurodevelopmental disorders Index. décimale : PER Périodiques Résumé : Our institution developed and continuously improved a Neurodevelopmental Reflex (NDR) algorithm to help physicians with genetic test ordering for neurodevelopmental disorders (NDDs). To assess its performance, we performed a retrospective study of 511 patients tested through NDR from 2018 to 2019. SNP Microarray identified pathogenic/likely pathogenic copy number variations in 27/511 cases (5.28%). Among the 484 patients tested for Fragile X FMR1 CGG repeats, a diagnosis (0.20%) was established for one male mosaic for a full mutation, a premutation, and a one-CGG allele. Within the 101 normocephalic female patients tested for MECP2, two patients were found to carry pathogenic variants (1.98%). This retrospective study suggested the NDR algorithm effectively established diagnoses for patients with NDDs with a yield of 5.87%. En ligne : http://dx.doi.org/10.1007/s10803-021-05337-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=489 Longitudinal trajectories of mental health and loneliness for Australian adolescents with-or-without neurodevelopmental disorders: the impact of COVID-19 school lockdowns / Stephen HOUGHTON in Journal of Child Psychology and Psychiatry, 63-11 (November 2022)
Permalink2D:4D Ratio in Neurodevelopmental Disorders: A Twin Study / L. MYERS in Journal of Autism and Developmental Disorders, 48-9 (September 2018)
PermalinkAdaptive Profiles in Autism and Other Neurodevelopmental Disorders / Susana MOUGA in Journal of Autism and Developmental Disorders, 45-4 (April 2015)
PermalinkAdult reversal of cognitive phenotypes in neurodevelopmental disorders / A. J. SILVA in Journal of Neurodevelopmental Disorders, 1-2 (June 2009)
PermalinkAnnual Research Review: Anterior Modifiers in the Emergence of Neurodevelopmental Disorders (AMEND)-a systems neuroscience approach to common developmental disorders / Mark H. JOHNSON in Journal of Child Psychology and Psychiatry, 62-5 (May 2021)
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