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"Research Roundup" July 2022 Edition


Prenatal exposure to anti-seizure medicines and offspring autism risk (again)

Prenatal exposure to anti-seizure medicines such as sodium valproate and topiramate, as well as several ‘duotherapies’ designed to control epilepsy, may impact on offspring risk of neurodevelopmental disorders including autism. Scandinavian researchers examined health and social data from 25,000 children exposed to anti-seizure medicines in-utero. They concluded that there were ‘robust’ and ‘dose-dependent’ associations between exposure and risk of neurodevelopmental disorders that persisted even after various other potentially confounding variables were taken into account. Such research adds to an already voluminous bank of research highlighting such risks (including a widely-accepted animal model of autism) based on prenatal valproate exposure. Many governments and healthcare agencies around the globe already provide guidance on how to balance the risk between such life-saving medicines and the potential impact on the developing fetus in women of childbearing age.



 

“Autistic men and women were more than three times as likely to die as people of the same age who did not have a developmental disability.”

Sobering data has emerged from a study out of Canada highlighting the far-reaching effects of a diagnosis of autism and/or developmental disability on mortality patterns. Relying on administrative information covering several thousands of adults examined over a 6-year period, researchers reported worrying data on early death among autistic people compared to non-autistic people: being 3-times more likely to die than population controls. Such reports strengthen the calls for better health and social care for people with autism, including preferential health screening for a variety of conditions.



 

4.7% of school-aged children in Northern Ireland diagnosed with an autism spectrum disorder

The annual report on the number of school-aged children diagnosed with an autism spectrum disorder (ASD) in Northern Ireland (NI) has been published. The data illustrates once again the upward trend in the number of children being diagnosed with ASD, now estimated at 14,000 children or 4.7% of the total NI school-aged population. Changes to the way the data was collected a couple of years ago seemingly have had little impact on the year-on-year increase in ASD diagnoses seen in NI, which mirrors other current statistics from around the world. Such data also doesn’t yet include the huge numbers of children who are still awaiting autism assessment in NI. Suffice to say that explanations focused solely on better awareness as drivers of the increase are becoming less and less relevant as the numbers continue to increase.


MTHFR deficiency presenting as autism: a case report

Two neurologists from India published an interesting case report detailing the diagnosis of autism coincidental to methylenetetrahydrofolate reductase (MTHFR) deficiency. The 5-year boy presented with abnormally high homocysteine levels (a potential marker for issues with folate production) accompanied by issues with the MTHFR gene. Use of supplements including “betaine, pyridoxine, folic acid, vitamin B12, and dietary therapy” was accompanied by significant improvement in both homocysteine levels and on an important measure of autistic behaviors. This case illustrates the benefits of additional screening following the diagnosis of autism and specifically, examining a role for folate metabolism in at least some cases of autism.



 

Early behavioral intervention research for autism needs to improve

A review of several behavioral approaches to improve outcomes in very young children diagnosed with autism or those at high likelihood of developing autism has concluded that study quality is a problematic issue. A collaborative research group pooled over 60 studies covering a variety of behavioral interventions. They concluded that while there were ‘green shoots’ for some approaches, the overall quality of the data was an issue as a function of a lack of standardized methodological approaches and risk of various biases.



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