The study showed that clinical services need to be adapted so that people diagnosed with autism-related genetic conditions are not denied access to critical support and interventions.
In international studies, four genetic states, also known as copy number variation (CNV), are associated with a high probability of autism, including 22q11.2 deletion, 22q11.2 duplication, and 16p11. 547 people diagnosed with one were analyzed. Two deletions and a 16p 11.2 duplicate.
CNV occurs when a small portion of a person’s DNA is missing or replicated and is associated with a variety of health and developmental problems. CNV can be inherited, but it can also occur randomly.
The results of this study showed a high prevalence of autism in individuals with these four genetic states, ranging from 23 to 58 percent. In the general population, the prevalence of autism is 1 percent.But by using a clinical cutoff, it was discovered Fifty-four percent of people with these genetic conditions did not meet the diagnostic criteria for complete autism, even with elevated levels of autism symptoms. Symptoms of autism varied considerably among people with the same genetic status.
Dr. Samuel Tschauner of the MRC Center for Neuropsychiatric Genetics and Genomics at Cardiff University said: “Our study shows that a personalized approach is needed to assess the needs of people with a genetic condition. Many of the people included in this study have someone with autism. Although not meeting all the criteria defined, more than half of them had significant symptoms associated with these genetic states, such as social and communication difficulties and repetitive behaviors. Over-defining how to diagnose the condition risks these individuals slipping through the net and denying important services. Sadly, many families met through this study have autism for their children. It describes the long-standing struggle of accessing symptom support, often due to the lack of integration of genetic testing services and autism diagnostic services. “
He also said that poor awareness of genetic status could also be a barrier. To improve opportunities for early diagnosis and support, all clinicians need to be aware of the risk of autism associated with a particular genetic condition.
The data for this study was taken from the Autism Diagnosis Interview-Revised Edition (ADI-R), which is used internationally in research and clinical settings for the diagnosis of autism. The ADI-R includes interviews with parents or parents and asks questions about the child’s developmental history across areas of social skills, communication skills, and repetitive behavior.
It is estimated that nearly 60 percent of people with developmental delay and 15 percent of people with autism have a genetic status.
Hermione was 16 years old and was diagnosed with a 22q.11.2 deletion at the age of four. This genetic condition was diagnosed after she was found to have cleft palate, which affected her speech. She has a developmental language disorder (DVD), which makes it difficult to process and communicate the language. She has also been diagnosed with anxiety.
Hermione was officially diagnosed with autism last year, even though researchers at Cardiff University and her school had previously flagged her as having autistic traits.
Tracy Elliot, Chief Research and Information Officer for the charity Cerebra, said: “We know that many children and families have problems accessing autism support services or face very long delays. Individuals with different genetic states have the same autism. We welcome the findings of this study that show that we can benefit from illness support. This reinforces cases of improvement and needs to support and facilitate the path for rarely ill parents and children. . “