Provision of Genetic Services for Autism and its Impact on Spanish Families

Codina‐Solà, Marta; Pérez-Jurado, Luís A.; Cuscò, Ivon; Serra‐Juhé, Clara

doi:10.1007/s10803-017-3203-4

Cited by 16 publications

(13 citation statements)

References 31 publications

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“…The fact that genetics services are underused by affected families is not specific to France; it is a major challenge worldwide [21]. For instance, a Spanish study exploring access to genetics services and parental perception of genetic risk in children with ASD revealed striking underuse of genetics services, with only 30% of families visiting a genetics service and 13% of patients undergoing the recommended genetic tests [22]. Similarly, a recent Taiwanese study revealed that two-thirds of parents with children with ASD had never heard about genetic testing for ASD, while the majority (71%) expressed an interest in learning more about such testing [23].…”

Section: Discussionmentioning

confidence: 99%

Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder

et al. 2019

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Background Neurogenetics investigations and diagnostic yield in patients with autism spectrum disorder (ASD) have significantly improved over the last few years. Yet, many patients still fail to be systematically investigated. Methods To improve access to services, an ambulatory team has been established since 1998, delivering on-site clinical genetics consultations and gradually upgrading services to 502 children and young adults with ASD in their standard environment across 26 day-care hospitals and specialized institutions within the Greater Paris region. The evaluation included a clinical genetics consultation, screening for fragile X syndrome, metabolic workup, chromosomal microarray analysis, and, in a proportion of patients, next-generation sequencing of genes reported in ASD and other neurodevelopmental disorders. Results Fragile X syndrome and pathogenic copy number variants (CNVs) accounted for the disease in 10% of cases, including 4/312 (1.3%) with fragile X syndrome and 34/388 (8.8%) with pathogenic CNVs (19 de novo and 4 inherited). Importantly, adding high-throughput resequencing of reported intellectual disability/ASD genes to the screening procedure had a major impact on diagnostic yield in the 141 patients examined most recently. Pathogenic or likely pathogenic sequence variants in 27 disease genes were identified in 33/141 patients (23.4%; 23 were de novo and 10 inherited, including five X-linked and five recessive compound heterozygous variants). Diagnosed cases presented atypical and/or syndromic ASD with moderate to severe intellectual disability. The diagnostic yield of fragile X syndrome and array CGH testing combined with next-generation sequencing was significantly higher than fragile X syndrome and array CGH alone ( p value 0.009). No inborn errors of metabolism were detected with the metabolic screening. Conclusion Based on the diagnostic rate observed in this cohort, we suggest that a stepwise procedure be considered, first screening pathogenic CNVs and a limited number of disease genes in a much larger number of patients, especially those with syndromic ASD and intellectual disability. Electronic supplementary material The online version of this article (10.1186/s13229-019-0284-2) contains supplementary material, which is available to authorized users.

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Section: Discussionmentioning

confidence: 99%

Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder

et al. 2019

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“…Bu oranlar Amerika Birleşik Devletleri'ne ait iken Avrupa ülkelerinde ise bu oranlar ülkeden ülkeye farklılıklar göstermektedir. Örneğin, Fransa'da otizm spektrum tanısı olan çocukların %61,7'si genetik test ile değerlendirilmiş olduğu bildirilirken, İspanya'da ise bu oran %13'e düşmektedir [17,18]. Her ne kadar kılavuzlar GG/EY veya otizm spektrum bozukluğu tanısı olan olguların mutlaka genetik değerlendirmesinin yapılması gerekliliğini vurgulasa da çalışmalar uygulamanın klinik pratikte kısıtlı olduğunu göstermektedir.…”

Section: Discussionunclassified

Current Situation in Planning and Evaluation of Etiological Genetic Tests in Children with Developmental Delay/Intellectual Disability: Single Center Experience

Bolat

Çelebi

Ünsel-Bolat

et al. 2022

Celal Bayar Üniversitesi Sağlık Bilimleri Enstitüsü Dergisi

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Objective: Developmental delay (DD) and intellectual disability (ID) are a phenotypically and genetically heterogeneous group of diseases. Genetic causes constitute an important part of the underlying etiology of DD/ID cases. Our aim in this study was to investigate the data on the genetic diagnosis rates of cases with DD/ID. Materials and Methods: Hospital records of 578 cases aged 0-6 years, who were referred to developmental tests between January 2020 and December 2020 with a preliminary diagnosis of DD/EY, were retrospectively analyzed. The results of genetic tests for these cases were evaluated. Results: The rate of cases with DD/ID as a result of the developmental test was 68.3%. Among the cases diagnosed as DD/ID, the rate of the cases who applied to the genetic polyclinic was 7.4%. As a result of the applied genetic tests, the rate of detection of genetic variants associated with DD/ID was 37.9%. Conclusion: Restrictions on genetic evaluation and access to genetic tests in neurodevelopmental disorders are an important problem all over the world. In our study, the rate of referral to genetics of DD/ID cases was found to be low when compared to the data of many available countries. In our country, health policies that can be implemented throughout the country are needed in order to provide appropriate genetic counseling for cases diagnosed with DD/ID, to determine the prognosis, and to provide primary protection for future generations.

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“…The majority of parents of children with ASD did not receive needed information about genetic testing during the referral for CMA by the primary care provider (Zhao et al, 2019) and may not undergo any genetic counseling prior to testing (Reiff et al, 2013). Access to medical genetics following genetics results is variable; the majority of families did not receive counseling following genetic results (Peabody et al, 2015), and more than 70% of caregivers of children with ASD surveyed in the USA and Mexico reported to never having seen a genetics professional at all despite having interest in testing (Codina‐Sola, Perez‐Jurado, Cusco, & Serra‐Juhe, 2017; Wydeven, Kwan, Hardan, & Bernstein, 2012). Taken together, it is clear that the genetics care pathway for ASD is in practice suboptimal.…”

Section: Introductionmentioning

confidence: 99%

Adaptation and validation of the Genetic Counseling Outcome Scale for autism spectrum disorders and related conditions

Yusuf

Peltekova

Savion‐Lemieux

et al. 2020

Journal of Genetic Counseling

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The genetics care pathway experienced by families affected by autism spectrum disorder (ASD) around the time of diagnosis is currently uncharacterized and potentially variable across contexts. The lack of consensus on outcome measures to capture the impact of genetic services for these families shows a gap in understanding and optimizing this genetics care pathway. The Genetic Counseling Outcome Scale (GCOS‐24) is a validated outcome measure of clinical genetics services. The current study aims to adapt and validate the GCOS‐24 as an outcome measure in the context routine genetic testing in ASD and related conditions. Families seen for their child’s developmental evaluation for ASD and related conditions were invited to participate in a genomics cohort between 2016 and 2018. Families (n = 111) completed the mGCOS‐24 (modified GCOS‐24), adapted from the original GCOS‐24 by clinicians working in the target population’s routine care pathway. The mGCOS‐24 has acceptable internal consistency (Cronbach’s α = 0.84) and high test–retest reliability (ICC = 0.88). It also inversely correlates with stress as measured by Perceived Stress Scale (PSS‐10) and distress, as measured by the Distress Thermometer, rs ≥ 0.39, ps < 0.001. The mGCOS‐24 had adequate readability, as supported by cognitive interviews completed by a sub‐sample of five mothers of a child with ASD. Together, our findings show that the mGCOS‐24 has good validity for the target population. Preliminary characterization of the genetics care pathway in this population revealed remarkable variability in pre‐test counseling and limited post‐test counseling. The use of the mGCOS‐24 as an outcome measure is useful in filling some of these gaps by offering a way to assess, and in the future, optimize the genetics care pathway for families affected by autism and related neurodevelopmental conditions.

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Provision of Genetic Services for Autism and its Impact on Spanish Families

Cited by 16 publications

References 31 publications

Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder

Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder

Current Situation in Planning and Evaluation of Etiological Genetic Tests in Children with Developmental Delay/Intellectual Disability: Single Center Experience

Adaptation and validation of the Genetic Counseling Outcome Scale for autism spectrum disorders and related conditions

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