Autism is typically diagnosed just short of a child’s 4th birthday

It often takes a few years into a child’s life before autism is diagnosed. Research now indicates that one day autism may be diagnosed by the discovery of a biomarker  and then treated at a very early age.

The normal social markers for the disease are as follows:

1. Spoken language

  • Slow speech development, such as not speaking at all, or having a very small vocabulary by age 2
  • Frequent repetition of phrases or set words
  • Flat or monotonous speech
  • Using single words to communicate, instead of sentences

2. Responses to other people

  • Not responding if called, after confirming there is no hearing problem
  • Rejecting cuddles from carers or parents, although cuddles are often initiated
  • Unusual negative reactions when other people ask them to do something

3. Interactions with other people

  • Not understanding personal space, or being highly intolerant of others coming into their personal space
  • Little interest in other people, regardless of age
  • Not enjoying activities that children of the same age enjoy, including parties
  • Wanting to play alone
  • Not communicating with facial expressions and gestures
  • Not making eye contact

4. Behavior

  • Repetitive movements
  • Repetitive and unimaginative play, including lining up blocks in set orders rather than to construct
  • Being focused on routines and becoming upset when routine changes
  • Loving or hating certain foods based not just on taste, but also on color, shape, or texture.
  • Having strange sensory interest, including sniffing people, objects, or toys

Vasopressin may be a biomarker for autism among boys

Wouldn’t it be remarkable if autism could be diagnosed very early and then treated? There are some indications that this may one day be possible. The answer may be found in the levels of the hormone vasopressin in a child’s  cerebrospinal fluid (CSF) .

Vasopressin is a man-made form of a hormone called “anti-diuretic hormone” (ADH), a relatively small (peptide) molecule normally secreted by the pituitary gland at the base of the brain after being made nearby in the hypothalamus.

Vasopressin helps prevent the loss of water from the body by reducing urine output and helping the kidneys reabsorb water into the body. Vasopressin also raises blood pressure by narrowing blood vessels.

Vasopressin is often used to treat diabetes insipidus, which is caused by a lack of that naturally occurring pituitary hormone in the body. Vasopressin is also used to treat or prevent certain conditions of the stomach after surgery or during abdominal x-rays.

Vasopressin interacts with sex hormones and may play a different role in boys than in girls. Preliminary research now seems to indicate that levels of Vasopressin in boys may be implicated in autism because it interacts with male hormones such as testosterone. That fact, in turn, may play a role in social, sexual and nurturing behavior leading to autism. Autism affects boys at about four times the rate that it does girls.

Clinical trials at Stanford’s Social Neurosciences Research Program

Researchers from Stanford University, UC San Francisco and UC Davis decided to explore whether vasopressin levels might indeed be a biological marker for autism.

Study leader Karen J. Parker and colleagues studied a group of Rhesus monkeys. They reported their findings in the May issue of Science Translational Medicine. The authors report that arginine vasopressin (AVP) in cerebrospinal fluid (CSF) was a key marker of sociality in the monkey cohort. They then measured AVP in CSF from seven children with autism and seven children without autism (but with other medical conditions) and found lower concentrations of AVP in the children with autism. The new findings suggest that the AVP signaling pathway warrants consideration in future research that aims to develop new drugs and diagnostics for autism.

“These are preliminary data that are compelling and interesting, but we still have a lot of follow-up to do,” said study leader Karen J. Parker,  But she said the team already has launched a clinical trial to explore the safety and effectiveness of intranasal vasopressin as a treatment for children with autism.

All we can do for the present is await the results of this trial—and pray!