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Genetic Testing Experiences Among Parents of Children with Autism Spectrum Disorder in the United States / S. ZHAO in Journal of Autism and Developmental Disorders, 49-12 (December 2019)
[article]
Titre : Genetic Testing Experiences Among Parents of Children with Autism Spectrum Disorder in the United States Type de document : Texte imprimé et/ou numérique Auteurs : S. ZHAO, Auteur ; W. J. CHEN, Auteur ; S. U. DHAR, Auteur ; T. N. EBLE, Auteur ; O. M. KWOK, Auteur ; L. S. CHEN, Auteur Article en page(s) : p.4821-4833 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder Experience Genetic testing Parents Utilization Index. décimale : PER Périodiques Résumé : This study examined the experiences of Autism Spectrum Disorder (ASD) genetic testing among parents of children with ASD. A nationwide sample of 552 parents of children with ASD completed an online survey. Nearly one-quarter (22.5%) of the parents reported that their affected children had undergone ASD genetic testing. The testing utilization was associated with awareness of ASD genetic testing and whether information was received from healthcare providers. Among parents whose children with ASD were tested, 37.6% had negative experiences, which mainly due to lack of perceived testing benefits to their affected children and unpleasant testing experiences with healthcare providers. To provide better healthcare services, it is critical to ensure parents understand the purposes, benefits, and results of ASD genetic testing. En ligne : http://dx.doi.org/10.1007/s10803-019-04200-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=411
in Journal of Autism and Developmental Disorders > 49-12 (December 2019) . - p.4821-4833[article] Genetic Testing Experiences Among Parents of Children with Autism Spectrum Disorder in the United States [Texte imprimé et/ou numérique] / S. ZHAO, Auteur ; W. J. CHEN, Auteur ; S. U. DHAR, Auteur ; T. N. EBLE, Auteur ; O. M. KWOK, Auteur ; L. S. CHEN, Auteur . - p.4821-4833.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 49-12 (December 2019) . - p.4821-4833
Mots-clés : Autism spectrum disorder Experience Genetic testing Parents Utilization Index. décimale : PER Périodiques Résumé : This study examined the experiences of Autism Spectrum Disorder (ASD) genetic testing among parents of children with ASD. A nationwide sample of 552 parents of children with ASD completed an online survey. Nearly one-quarter (22.5%) of the parents reported that their affected children had undergone ASD genetic testing. The testing utilization was associated with awareness of ASD genetic testing and whether information was received from healthcare providers. Among parents whose children with ASD were tested, 37.6% had negative experiences, which mainly due to lack of perceived testing benefits to their affected children and unpleasant testing experiences with healthcare providers. To provide better healthcare services, it is critical to ensure parents understand the purposes, benefits, and results of ASD genetic testing. En ligne : http://dx.doi.org/10.1007/s10803-019-04200-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=411 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 Autism Spectrum Disorder and Genetic Testing: Parents' Attitudes-Data from Turkish Sample / A. B. AYHAN in Journal of Autism and Developmental Disorders, 51-9 (September 2021)
[article]
Titre : Autism Spectrum Disorder and Genetic Testing: Parents' Attitudes-Data from Turkish Sample Type de document : Texte imprimé et/ou numérique Auteurs : A. B. AYHAN, Auteur ; U. BEYAZIT, Auteur ; ? TOPUZ, Auteur ; Z. TUNAY Ç, Auteur ; M. N. ABBAS, Auteur ; S. YILMAZ, Auteur Article en page(s) : p.3331-3340 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/diagnosis/genetics Child Genetic Testing Health Knowledge, Attitudes, Practice Humans Parents Autism spectrum disorder Parents’ attitudes Turkish sample Index. décimale : PER Périodiques Résumé : We aimed to examine the opinions of parents' having a child with ASD, on genetic testing, in a Turkish sample. 951 parents' attitudes towards genetic testing were included. 89.1% of the parents did not take a genetic test during pregnancy. 87.6% of the parents agreed to take a genetic test if it could explain the cause of ASDs. 93% agreed to take a genetic test, if it would help to have a better treatment in the future. 63.8% of the participants would approve the storage of their DNA samples for the future studies. 94.8% considered being informed about the purpose of taking DNA material for the early diagnosis and 84.2% considered being suggested genetic tests for early diagnosis as important. En ligne : http://dx.doi.org/10.1007/s10803-020-04798-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=453
in Journal of Autism and Developmental Disorders > 51-9 (September 2021) . - p.3331-3340[article] Autism Spectrum Disorder and Genetic Testing: Parents' Attitudes-Data from Turkish Sample [Texte imprimé et/ou numérique] / A. B. AYHAN, Auteur ; U. BEYAZIT, Auteur ; ? TOPUZ, Auteur ; Z. TUNAY Ç, Auteur ; M. N. ABBAS, Auteur ; S. YILMAZ, Auteur . - p.3331-3340.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 51-9 (September 2021) . - p.3331-3340
Mots-clés : Autism Spectrum Disorder/diagnosis/genetics Child Genetic Testing Health Knowledge, Attitudes, Practice Humans Parents Autism spectrum disorder Parents’ attitudes Turkish sample Index. décimale : PER Périodiques Résumé : We aimed to examine the opinions of parents' having a child with ASD, on genetic testing, in a Turkish sample. 951 parents' attitudes towards genetic testing were included. 89.1% of the parents did not take a genetic test during pregnancy. 87.6% of the parents agreed to take a genetic test if it could explain the cause of ASDs. 93% agreed to take a genetic test, if it would help to have a better treatment in the future. 63.8% of the participants would approve the storage of their DNA samples for the future studies. 94.8% considered being informed about the purpose of taking DNA material for the early diagnosis and 84.2% considered being suggested genetic tests for early diagnosis as important. En ligne : http://dx.doi.org/10.1007/s10803-020-04798-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=453 Diagnostic and Therapeutic Misconception: Parental Expectations and Perspectives Regarding Genetic Testing for Developmental Disorders / I. TREMBLAY in Journal of Autism and Developmental Disorders, 49-1 (January 2019)
[article]
Titre : Diagnostic and Therapeutic Misconception: Parental Expectations and Perspectives Regarding Genetic Testing for Developmental Disorders Type de document : Texte imprimé et/ou numérique Auteurs : I. TREMBLAY, Auteur ; S. GRONDIN, Auteur ; A. M. LABERGE, Auteur ; D. COUSINEAU, Auteur ; L. CARMANT, Auteur ; A. ROWAN, Auteur ; A. JANVIER, Auteur Article en page(s) : p.363-375 Langues : Anglais (eng) Mots-clés : Array comparative genomic hybridization (aCGH) Autism spectrum disorder Chromosomal microarray (CMA) testing Genetic testing Global developmental delay Misconception Index. décimale : PER Périodiques Résumé : Parents' understanding/expectations regarding genetic testing for children with developmental disorders were explored. Within a month of testing, interviews were conducted with 57 parents. Many (74%) could not recall the nature of testing. Parents expected genetic testing to have positive impacts for the child (93%) and the family (98%), mainly to find the etiology and/or an intervention. Many parents (40%) reported not knowing their child's clinical diagnosis. They expected genetic testing would establish the diagnosis. Parents anticipated potential negative impacts of testing for children (78%) and families (87%), mainly finding another illness or not finding potential interventions. Abnormal results explaining the disorder were found in 9% of children. In summary, genetic results for developmental disorders are unlikely to meet parental expectations. En ligne : http://dx.doi.org/10.1007/s10803-018-3768-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=377
in Journal of Autism and Developmental Disorders > 49-1 (January 2019) . - p.363-375[article] Diagnostic and Therapeutic Misconception: Parental Expectations and Perspectives Regarding Genetic Testing for Developmental Disorders [Texte imprimé et/ou numérique] / I. TREMBLAY, Auteur ; S. GRONDIN, Auteur ; A. M. LABERGE, Auteur ; D. COUSINEAU, Auteur ; L. CARMANT, Auteur ; A. ROWAN, Auteur ; A. JANVIER, Auteur . - p.363-375.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 49-1 (January 2019) . - p.363-375
Mots-clés : Array comparative genomic hybridization (aCGH) Autism spectrum disorder Chromosomal microarray (CMA) testing Genetic testing Global developmental delay Misconception Index. décimale : PER Périodiques Résumé : Parents' understanding/expectations regarding genetic testing for children with developmental disorders were explored. Within a month of testing, interviews were conducted with 57 parents. Many (74%) could not recall the nature of testing. Parents expected genetic testing to have positive impacts for the child (93%) and the family (98%), mainly to find the etiology and/or an intervention. Many parents (40%) reported not knowing their child's clinical diagnosis. They expected genetic testing would establish the diagnosis. Parents anticipated potential negative impacts of testing for children (78%) and families (87%), mainly finding another illness or not finding potential interventions. Abnormal results explaining the disorder were found in 9% of children. In summary, genetic results for developmental disorders are unlikely to meet parental expectations. En ligne : http://dx.doi.org/10.1007/s10803-018-3768-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=377 Factors Affecting Family Compliance with Genetic Testing of Children Diagnosed with Autism Spectrum Disorder / Yonah HENDEL in Journal of Autism and Developmental Disorders, 51-4 (April 2021)
[article]
Titre : Factors Affecting Family Compliance with Genetic Testing of Children Diagnosed with Autism Spectrum Disorder Type de document : Texte imprimé et/ou numérique Auteurs : Yonah HENDEL, Auteur ; Gal MEIRI, Auteur ; Hagit FLUSSER, Auteur ; Analya MICHAELOVSKI, Auteur ; Ilan DINSTEIN, Auteur ; Idan MENASHE, Auteur Article en page(s) : p.1201-1209 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder Compliance Genetic testing Index. décimale : PER Périodiques Résumé : There is broad consensus about the importance of post-diagnostic genetic testing for children with ASD. However, the extent of compliance with these tests and the factors affecting compliance have rarely been examined. We surveyed a sample of 114 families with a child with ASD in Israel, where such genetic testing is funded by the government. We found that only one-third of these families completed post-diagnosis genetic testing for their child. The main factor influencing compliance was the doctor's recommendation (OR 11.6; 95% CI 3.2-42.4; p?0.001). Furthermore,?>?50% of the non-compliant families reported that genetic testing was irrelevant to them. Our findings highlight the importance of providing clear recommendations and explanations regarding the benefits and relevance of post-diagnosis genetic testing for children with ASD. En ligne : http://dx.doi.org/10.1007/s10803-020-04589-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=445
in Journal of Autism and Developmental Disorders > 51-4 (April 2021) . - p.1201-1209[article] Factors Affecting Family Compliance with Genetic Testing of Children Diagnosed with Autism Spectrum Disorder [Texte imprimé et/ou numérique] / Yonah HENDEL, Auteur ; Gal MEIRI, Auteur ; Hagit FLUSSER, Auteur ; Analya MICHAELOVSKI, Auteur ; Ilan DINSTEIN, Auteur ; Idan MENASHE, Auteur . - p.1201-1209.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 51-4 (April 2021) . - p.1201-1209
Mots-clés : Autism spectrum disorder Compliance Genetic testing Index. décimale : PER Périodiques Résumé : There is broad consensus about the importance of post-diagnostic genetic testing for children with ASD. However, the extent of compliance with these tests and the factors affecting compliance have rarely been examined. We surveyed a sample of 114 families with a child with ASD in Israel, where such genetic testing is funded by the government. We found that only one-third of these families completed post-diagnosis genetic testing for their child. The main factor influencing compliance was the doctor's recommendation (OR 11.6; 95% CI 3.2-42.4; p?0.001). Furthermore,?>?50% of the non-compliant families reported that genetic testing was irrelevant to them. Our findings highlight the importance of providing clear recommendations and explanations regarding the benefits and relevance of post-diagnosis genetic testing for children with ASD. En ligne : http://dx.doi.org/10.1007/s10803-020-04589-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=445 Information needs in genetic testing: A needs assessment survey among Taiwanese parents of children with autism spectrum disorders / L. S. CHEN in Autism, 23-4 (May 2019)
PermalinkNeeds assessment in genetic testing education: A survey of parents of children with autism spectrum disorder in the united states / S. ZHAO in Autism Research, 12-8 (August 2019)
PermalinkComprehensive Genetic Analysis of Non-syndromic Autism Spectrum Disorder in Clinical Settings / K. OHASHI in Journal of Autism and Developmental Disorders, 51-12 (December 2021)
Permalink22q11.2 duplication syndrome: elevated rate of autism spectrum disorder and need for medical screening / T. L. WENGER in Molecular Autism, 7 (2016)
PermalinkIs there concordance in attitudes and beliefs between parents and scientists about autism spectrum disorder? / Ruth L FISCHBACH in Autism, 20-3 (April 2016)
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