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Families that have a child with autism do not get access to the available health care resources

Families that have a child with autism do not get access to the available health care resources

According to a scientific study, in Spain only 30% of these families have ever visited a genetics service and the cases that have undergone recommended genetic analysis are as low as 13%. The lack of information about the inheritance of this disease has a strong impact on the perception of risk and family planning when having another child.

19.07.2017

Boy with autism - Scott Vaughan

Scientists at Pompeu Fabra University and the Centre for Biomedical Network Research on Rare Diseases (CIBERER) have studied the access to genetics services and the perception of the risk of recurrence in the parents of autistic children in Spain. The study, published in Journal of Autism and Developmental Disorders, highlights the lack of use of these services, whose direct consequence is a misunderstanding of the risk of having another affected child.

Autism spectrum disorders (ASD) are a group of neurodevelopmental disorders that are characterized by deficiencies in communication, social interaction and behaviour. They are complex disorders with both genetic and environmental risk factors. “Their high genetic heterogeneity may bring about difficulties in understanding the hereditary transmission of autism and the risk of recurrence in offspring”, states Clara Serra, leader of the study and a researcher at the Genetics Unit at UPF. “In this context, genetic counselling is a very useful tool for those families with an affected child.”

Although genetic assessment may identify the cause of between 15% and 30% of cases of ASD, the results of the study show that only 30% of affected families in Spain have visited a genetics service, and only 13% of patients have undergone the recommended genetic chromosome analysis, microarray chromosome analysis or CMA. According to the authors, precise genetic diagnosis is highly important because it provides real data on the risk of recurrence in offspring, and enables providing high-quality genetic counselling to families. Moreover, a definitive diagnosis can provide information on the prognosis of the disorder and monitor and prevent the associated medical conditions.

“Parents’ misinformation has a very strong impact on family planning”, asserts Sierra, who is also a member of the CIBERER network. “In fact, the decision not to have more offspring is very common in those parents with a child affected by ASD”. Most of the families estimate the risk of having another child with autism at 50%, when the reality is that this figure depends on multiple factors, including the genetics of each case. However, families with an identifiable genetic disorder miss the opportunity to detect it, and as a result, do not consider the associated reproductive options to minimize their risk in future pregnancies. “Given the possible consequences of the scarce use of genetics services, we must make an effort to determine and eliminate the barriers that hinder the access of families with ASD to this type of service”.

In Spain, the national health system covers genetic tests for the cases that so require. However, genetics is not yet recognized as a medical speciality in our country and neither are genetic counsellors considered as being health professionals. Furthermore, the differences in the provision of services by the many regional administrations of the national health system and the lack of uniform criteria for patient referral between health care professionals are also factors that hinder access to genetics services in Spain.

“It is the responsibility of the health authorities and the genetics community to ensure that all families that have a child with ASD can have access to a clinical genetics service to provide them with reliable information and help them to understand the origin of the condition. This is the best choice when making decisions related to family planning”, concludes Marta Codina-Solà, first author of the article.

 

Reference article: Marta Codina‑Sola, Luis A. Perez‑Jurado, Ivon Cuscó, Clara Serra‑Juhe. Provision of Genetic Services for Autism and its Impact on Spanish Families. Journal of Autism and Developmental Disorders, July 2017. DOI 10.1007/s10803-017-3203-4

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