Hot topics in 2014

1. Unraveling autism, genetics first

Autism is famously diverse — in its root causes, but also in how it manifests. This poses problems for studies that enroll small numbers of participants, and even more so for clinical trials, in which only a fraction of those enrolled might show any improvement.

The ‘genetics-first’ approach offers an alternative: Scientists first identify people who have the same mutation, then thoroughly characterize their features. This year, researchers made real headway with this approach, identifying several people with mutations in the candidate genes CHD8, ADNP and PTEN. Ultimately, researchers say, they hope to identify biologically meaningful subgroups of autism and tailor treatments to each.

2. Leaps of faith in quest for treatments

This year saw a rash of promising yet dubious drug candidates.

Many of the drugs are approved to treat other disorders — for example, high blood pressure or anxiety — so they are unlikely to do much harm. Others, such as insulin-like growth factor 1, are being tested for a range of autism-related disorders, but their effectiveness needs to be confirmed.

Some candidates that got much attention, however, need thorough vetting.

Suramin, the 100-year-old drug for African sleeping sickness, has severe side effects, such as anemia. Sulforaphane, a chemical extract from broccoli sprouts that has shown promising results in a small trial — almost unbelievably so, as it has no placebo effect — has tenuous links to autism. And a trial of stem cell therapy, which has been funded to the tune of $40 million, is little more than a “Hail Mary pass” for autism, according to one expert.

3. Can you outgrow autism?

In May, researchers identified eight people they said had outgrown their autism diagnoses. Last year, another groundbreaking study reported a similar group of 34 individuals. Early indicators of this ‘optimal outcome’ include early interventions before age 3 and attending preschool.

But overall, these studies raise questions with no straightforward answers: Did these individuals ever have autism? Or have they been able to compensate enough that their symptoms no longer merit a full diagnosis? Is this optimal outcome a real phenomenon?

Some studies published this year suggest that people who lose their diagnosis still have some autism-like features, such as unusual routines or rituals, or the use of quirky phrases when narrating a story. These traits don’t interfere with their daily lives or their ability to communicate. But it’s unclear whether they’ve really shaken their autism or simply learned to cope better.

4. Autism’s genetic risk is not one-size-fits-all

A considerable proportion of the risk for autism comes from genes, but the types of genetic variants involved are myriad, ranging from severe harmful mutations that arise spontaneously to inherited common variants.

This year, researchers made substantial progress in understanding how different types of mutations contribute to autism risk.

One study, published in March, solidified the theory that females are somehow protected from autism. This would explain the 4-to-1 skew in diagnoses in males versus females. It would also explain why females who have autism have more severe symptoms and more mutations than males do — it takes a bigger hit to overcome their bar of protection.

Multiple studies published this year also highlighted that the most severe autism mutations are virtually absent from males with autism who have intelligence quotients above the population average of 100. Understanding which types of mutations are prevalent in subgroups of individuals may help researchers better know where to look when identifying them.

5. Rapid autism diagnosis, but at what cost?

In May, researchers published a study showing that they could reliably diagnose autism from YouTube videos. There is no question that rapid diagnosis for autism is urgently needed, but experts sharply critiqued this study, pointing to its flawed methodology and and small numbers.

This year, researchers released an updated version of a screening tool called the Modified Checklist for Autism in Toddlers (M-CHAT). With only 20 optimized questions instead of the previous 23, and a new scoring method, the revised tool is quicker and may even be more accurate.

The average wait in the U.S. for an autism diagnosis is two years, and there are few psychiatrists who have experience working with children who have autism. This flies in the face of evidence that autism interventions may be most effective when started as young as possible.