Autism - the earliest signs

Recently, I’ve been finding myself talking about Autism with an increasing frequency. Whether it’s about epidemiology, symptoms, perceived increases in prevalence or very early warning signs. Often we hear parents describe the onset of symptoms at about the age of 2.

A close friend with a one-year boy asked me just the other day if I thought her child’s head size was bigger than average because she was told that he’s too young to make assess for Autism. She was told for example to look for delays in language and/or the child’s ability to respond to his name, etc. I am over simplifying this particular case because I wanted to contrast these with the subtle and earliest signs, like lack of joint attention, gestures, or social reciprocity.

It is therefore imperative that parents chronicle the developmental milestones and share them with their pediatrician. The following are by no means definitive markers for Autism but signs that can be examined and discussed with practitioners.

At 4 months, is your child

•   Following and reacting to bright colors, movement, and objects?

•   Turning toward sound?

•   Showing an interest in watching people's faces?

•   Smiling back when you smile?

Other early red flags

•     No big smiles or other warm, joyful expressions by six months or thereafter

•     No back-and-forth sharing of sounds, smiles, or other facial expressions by nine months or thereafter

•     No babbling by 12 months

•     No back-and-forth gestures, such as pointing, showing, reaching, or waving by 12 months

•    Loss of speech

•     Any loss of speech or babbling or social skills at any age

In the second year of life common signs for autism may include

•     Lack of showing

•     Lack of gestures: pointing, reaching, waving, showing

•     Lack of sharing interest or enjoyment with others

•     Repetitive movements with objects

•     Lack of appropriate eye gaze

•     No words by 16 months

•     Lack of warm, joyful expressions

•     Unusual prosody (rhythm and intonation of language)

•     Repetitive movements or posturing of the body

•     No two-word meaningful phrases (without imitating or repeating) by 24 months

DSM-5 and Proposed Changes to ASD

Jack Dikian

January 2012

It has been 17 years since the last significant overhaul of the Diagnostic and Statistical Manual of Mental Disorders (DSM). The planned fifth edition of the American Psychiatric Association's Diagnostic and Statistical Manual of Mental Disorders is due for publication in May 2013.

And whilst the proposed changes to DSM-IV diagnoses are many and include Asperger syndrome, Attention Deficit Hyperactivity Disorder, Bipolar disorder, Depression, Dissociative identity disorder, Hypersexual disorder, etc, the proposed changes to the diagnostic criteria for Autism has received much concern by many.

The proposed change includes consolidating autism spectrum disorder and eliminating Asperger syndrome and Pervasive Developmental Disorder-Not Otherwise Specified (PDD.-NOS). The new criteria would also require a person to exhibit three social interaction and communication deficits and a minimum of two repetitive behaviors. In contrast, the current requirement is exhibiting 6 or more of 12 behaviors to be diagnosed as autistic.

Concerns are numerous and aired by families of autistic children and adults, practitioners, and researchers. Families are worried that if the proposed changes are accepted, their access to support services might diminish. Others are concerned, understandably, that with these changes will impair the ability of health officials and researchers to compare future rates of autism spectrum disorders to past rates.

For example, a recent Yale University study found that out of a group of patients diagnosed with autism participating in a 1994 field trial, roughly half wouldn’t be considered autistic anymore under new guidelines proposed by the American Psychiatric Association (APA).

The following link takes you the APA’s DSM-5 development site.

http://www.dsm5.org/ProposedRevisions/Pages/proposedrevision.aspx?rid=94

Oxytocin and Social Behaviours

Jack Dikian

October 2011

Yesterday I attended the Developmental Disabilities, Challenging Behaviour and Mental Health conference hosted by The Faculty of Health Sciences and Brain and Mind Research Institute, University of Sydney in association with the NSW Council for Intellectual Disability.

It was a packed program including local and international speakers who have shaped and informed the fields of Developmental Disabilities, Psychology, Psychiatry and Psychological Medicine – with names including Professor Stewart Einfeld, Professor Eric Emerson, Professor Gwynnyth Llewellyn, Professor Bruce Tonge, and Professor Emeritus Trevor Parmenter.

The presentation by Associate Professor Adam Guastella was a particular interest to me in my work with autism and challenging behaviour. Guastella’s work demonstrates the critical role of Oxytocin and Arginine Vasopressin in enhancing social processes (some of which are known to be important in the overall Autism Spectrum Disorder symptomatology) in humans and has laid the foundation for potential new treatments for social dysfunction.

Looking at studies involving the use of Oxytocin and social behaviours, there appears to a number of reports linking Oxytocin with:

• Reduction of trust of strangers and increasing cultural and racial bias 1
• Positive correlation between Oxytocin plasma levels and an anxiety scale measuring the adult romantic attachment 2
• Enhancing eye gaze 3

Also, some studies report links between Oxytocin and improvement in peer and social recognition and bonding, reducing threat sensitivity where threat biases are likely to exist and improvement in retention of social memory.

1. Ed Yong (11 Jan 2011). "No love for outsiders – oxytocin boosts favouritism towards our own ethnic or cultural group". Discover Magazine. Kalmbach Publishing Co.. Retrieved 21 Feb 2011.

2. Marazziti D, Dell'Osso B, Baroni S et al. (2006). "A relationship between oxytocin and anxiety of romantic attachment". Clinical Practice and Epidemiology in Mental Health 2: 28. doi:10.1186/1745-0179-2-28.

3. Guastella AJ, Mitchell PB, Dadds MR (Jan 2008). "Oxytocin increases gaze to the eye region of human faces". Biological Psychiatry 63 (1): 3–5. doi:10.1016/j.biopsych.2007.06.026. PMID 17888410.

People sometimes regard the incident of Autism to be on the increase - is it?

Jack Dikian

September 2011

One of the most frequent questions I'm asked by parents of young children is whether I believe there is a greater prevalence of kids being diagnosed with Autism now compared to earlier years. Anecdotally there is a sense that people regard this disorder to be on the increase.

A key question is whether more kids are being labeled with autism today due to a true increase of the disorder or whether factors such as greater awareness by doctors and the public, a broader definition of it, better diagnostic instruments, and changes in diagnostic criteria are contributing to this perception.

According to Dr. Chris Johnson, a professor of pediatrics at the University of Texas Health Sciences Center at San Antonio and co-chair of the American Academy of Pediatrics Autism Expert Panel there may be a chance we’re seeing a true rise, but right now he doesn’t think anybody can answer that question for sure. Some parents have been or are of the belief that the disorder is increasing due to some modern hazard that is damaging the children’s brains.

This theory was aided by a paper in The Lancet, a British medical journal in the late 1990’s. In that, a connection between vaccines and autism were raised – the MMR vaccine controversy claimed that autism spectrum disorders can be caused by the MMR vaccine, an immunisation against measles, mumps and rubella. In 2011 the research was declared fraudulent and The Lancet paper was partially retracted in 2004 and fully retracted in 2010. Scientific consensus is that no evidence links the vaccine to the development of autism, and that the vaccine's benefits greatly outweigh its risks.

Studies in the 1960s indicated that autism was quite rare, affecting only about one person in every 2,000 to 2,500, according to the Centers for Disease Control and Prevention. Other research in 1970 put the figure at one case per 10,000, according to Johnson. Precisely how many people have autism today is unknown. Estimates suggest there are five to six cases of autism spectrum disorders per 1,000 people or roughly as many as one case out of every 166 people.

A relatively recent report commissioned by Autism Advisory Board on Autism Spectrum Disorders found that there is one child with autism spectrum disorder on average in every 160 children.

It is however difficult to make comparisons across decades. Diagnostic criteria changed dramatically in the late 1980’s, broadening the number of people who could be considered to have autism spectrum disorder. In earlier years, only those with severe autistic characteristics would be diagnosed with autism; and others might have been categorized as individuals with intellectual disabilities.

The idea that changes in diagnostic criteria and greater awareness leading to an increase in the incidence of autism was examined by W. Barbaresi and colleagues (Mayo Clinic Child Development Research Group) in an important study looking at the Incidence of Autism in Olmsted County, Minnesota, 1976-1997.

Using data on every child living in the county during those years, the researchers used modern diagnostic criteria to conclude that the incidence of autism specifically rose dramatically, from 5.5 cases per 100,000 children from 1980 to 1983, to 44.9 cases from 1995 to 1997. A sharp increase started between 1988 and 1991, a period during which broader diagnostic criteria for autism were newly in use and increased awareness of the disorder occurred.

The findings of the study was published in the January issue of the Archives of Pediatrics and Adolescent Medicine, and highlighted by Time Magazine as one of the most important medical studies published in 2005.

More recently, numerous studies attempting to better understand the causes, and hopefully improving diagnosis and treatment have focused on genetic underpinnings of the disorders that may play a role in a significant number of cases. The US federal government, has, for example organized an international coalition to explore the genetics.

Many scientists believe that autism is largely caused by genes. Studies have shown, for instance, that if one identical twin has autism the second twin is very likely to also have the disorder. But the risk isn't 100 percent, suggesting that other factors can contribute, even if they aren't the main cause.

Mouse Model That Replicates Human OCD Can Point To More Effective Treatments

Jack Dikian

September 2011

Researchers at the University of Chicago are using a new model of obsessive-compulsive disorder (OCD) that mirrors both symptoms of the disease and the timing of its treatment in humans. In the paper published in Biological Psychiatry the researchers report that they have been able to use the model to isolated a single neurotransmitter receptor in a specific brain region responsible for their model's OCD-like symptoms, offering new insight into the cause of the disorder.

Having a model that seems to mimic the disorder so well, especially in terms of the time course of treatments that work in humans, is potentially very useful for researching novel therapeutics. It’s possible that with further research the model may point the way to new treatments for both OCD and autism.

With a model that replicates aspects of OCD, researchers can dig deeper into the specific neurotransmitters and systems involved in the disorder. A drug that is used to treat migraines, but also known to have the unintended effect of increasing anxiety and compulsions in people with OCD was shown to bring about highly repetitive patterns of locomotion in mice.

The drug-treated mice also exhibited deficits in prepulse inhibition, a form of startle plasticity thought to measure the brain's ability to filter out intrusive thoughts, which plague OCD patients. To determine whether these drug-induced behaviors reflected the neurobiology of OCD, the researchers tested the same drugs used to treat the disorder in humans. After four weeks of pre-treatment with SRIs - the same duration required to see therapeutic effects in humans - drug-induced OCD behaviors were reduced in the mice.

The researchers then looked for a specific brain region where activation of 1b serotonin receptors creates OCD-like symptoms. In humans, scientists have identified a region called the orbitofrontal cortex that is more active in OCD subjects. Again matching the human data, selectively activating 1b receptors in the orbitofrontal cortex with the drug was sufficient to produce the OCD-like symptoms in the mice.

The results offer promising ideas about developing new treatments for OCD. A drug that blocks the serotonin 1b receptors may be effective in reducing OCD symptoms; however, no such chemical is currently available according to the researchers.

Researchers

Stephanie Dulawa, PhD, assistant professor in the Department of Psychiatry and Behavioral Neuroscience at the University of Chicago Medical Center and senior author of the study

Nancy Shanahan, PhD, lead author of the paper in Biological Psychiatry