Genetics: the major force in autism

31 Jul

GENETICS By Far the Biggest Risk Factor in Autism

by Lirio S. Covey, Ph.D.

A massive, rigorous study using multi-generational population data from five countries concluded that inherited genes account for about 80% of the risk for autism. Environmental factors accounted for 20% of the risk.

The entire sample included more than two million (2,001,631) individuals, of whom 22,156 were diagnosed with autism spectrum disorder (ASD).

The data were collected from 5 countries – Denmark, Finland, Sweden, Israel, and Western Australia between January 1998 and December 2011. Subjects were followed up to age 16 years.

Much remains to be known. What are those specific genes and what are those environmental factors, important because they are likely to be modifiable. Research continues to answer those questions.

What can be inferred from the study.

– Genes being the major force, autism is largely present before birth.

– There has been a disproportionate and frequently misguided focus widely spread by media on environmental risk factors, including the false, yet enduring, belief regarding the measles, mumps, rubella vaccine, as a cause of autism.

– Recognizing early autism signs is important in order that early interventions, if needed, can be applied as early as possible.

Reference: Dan Bai, Benjamin Hon Kei Yip, Gayle C Windham. “Association of Genetic and Environmental Factors with Autism in a 5-Country Cohort”, online, July 17, 2019, JAMA Psychiatry, 1411, do1:10:1001.


30 Jul


     by Lirio S. Covey, Ph.D.

A large, US-based study found that when hospitalized, adults with autism spectrum disorder (ASD) have a nearly 50 percent higher risk of death compared to the general population.

Also found was that this greater risk is about twice higher in women with ASD compared to men with ASD, and three times higher among autistic women compared to women without ASD.

It has been previously reported that autistic persons are at higher risk for illnesses than the general population; these findings suggest that this greater risk extends to mortality outcome from a hospital stay.

The analysis was controlled for potential confounders that affect mortality, including socioeconomic factors and the presence of co-occurring physical or psychiatric illness.

The study used a nationwide inpatient sample, and compared a very large number of autistic persons – 34,237, compared to 102,711 controls.

The precise source of the greater risk remains to be determined since factors that could moderate the increased risk of death, which were not measured, need to be considered. Such factors include lower quality of hospital care for autistic patients as well as the fact that the autistic persons are likely to present to the hospital in more severe states than do non-autistic persons, a condition that applies particularly for autistic women for whom autism is usually recognized at older years. Both of those potentially moderating conditions could increase risk of death, independently of the autism itself.

Importantly, these findings imply the need for more careful and aggressive health care and monitoring of persons with autism, some of whom may be unable to adequately and correctly express their medical symptoms, and improved efforts towards early detection of autism and other health symptoms in order that needed treatment is delivered in timely manner rather than delayed.

Reference: Akobirshoev I, et al. Autism. 2019 “In-hospital mortality among adults with autism spectrum disorder in the United States: A retrospective analysis of US hospital discharge data”


18 Apr


By Lirio S Covey, Ph.D.

The rate of depression was higher in young adults with Autism Spectrum Disorder (ASD) than in same-aged persons in the general population.

In a population-based study of young adults conducted in Sweden, the prevalence of depression was significantly higher in those with autism than in the age-comparable general population. By age 27, almost 20% (19.8%) of persons with ASD had received a diagnosis of depression compared to only 6.0% in the general population.

The study data were collected from total population registries, in this case, of children born between January 2001 and December 2011; they were followed up to the age of 27 years.

The prevalence of depression was also higher in non-autistic siblings of the index person with ASD than in the general population, a finding compatible with the putative effect of familial liability, including genetic factors, on risk for ASD. Indicating more than familial liability, that is, factors specific to ASD, the rate of depression was still higher in the index autistic person than in the non-autistic sibling.

Further, within the autistic group, the rate of depression was higher among those without intellectual disability (24%) than in those with intellectual disability (9%). A partial explanation for the difference could be that depressive symptoms were not well-recognized among those with intellectual disability and related conditions.

The researchers also noted that ascertainment of ASD after the onset of depression occurred in as many as half of the ASD individuals possibly because more attention was paid to the depressive symptoms. This delay is clinically relevant in that the masking of ASD symptoms could exacerbate the impairments due to ASD and limit access to interventions known to improve quality of life for persons with ASD.

A further implication of the observed relationship in this study of young adults is that the underlying presence of ASD should be considered when symptoms of depression are reported.


Dheeraj Rai, MRCPsych, PhD; Hein Heuvelman, MSc, PhD; Christina Dalman, MD, PhD; Iryna Culpin, MSc, PhD; Michael Lundberg, MPH; Peter Carpenter, MBChB, FRCPsych; Cecilia Magnusson, MD, PhD. Association Between Autism Spectrum Disorders With or

Without Intellectual Disability and Depression in Young Adulthood. August 31, 2018. doi:10.1001/jamanetworkopen.2018.1465


25 Feb


by Lirio S. Covey

About three to four times more males than females receive the diagnosis of autism spectrum disorder (ASD). Why that is so has been unclear. What has been frequently noted is that girls receive an ASD diagnosis later in life, often in adulthood, instead of the common detection time of ASD during the years up to 8 years of age.

A behavioral phenomenon labelled as “social camouflaging” is becoming understood as explaining in part the larger autism ratio of boys to girls. It is a social strategy engaged in more typically by females than males with autism, enabling the latter to seem to fit better in their social environments at school or at work. It can also be referred to as a dissonance between what’s going on emotionally in the inside and what appears on the outside.

Social camouflaging occurs when the person recognizes her/himself to be engaging in behaviors considered unusual or unacceptable, and responds to this awareness by forcing him/herself to stop doing those behaviors, making adjustments to refrain from such acting out telling autistic behaviors. Like the comforting behaviors of stimming, fidgeting, or other repetitive behaviors, which are among the hallmarks of autism.

This inhibition of natural inclinations, which requires self-awareness and great effort can be physically and mentally exhausting. The frequent psychological costs are – not feeling understood by others and by their own selves, anxiety, and depression.

Contributing to the problem of a possible under-rating of ASD in females is that existing instruments for diagnosing autism are oriented towards identifying autistic traits usually found among males. Many autistic traits among females have yet to be well identified and understood. This under-diagnosis partly explains why diagnosis later in life occurs more frequently in girls, leading to less and later access to relevant social supports and other therapeutic aides.

Social camouflaging and the costs of autism are discussed further in the linked article and in the peer-reviewed article referenced below.

Hull L, Petrides, KV, Allison C, Smith P, et al. “Putting on My Best Normal Social Camouflaging in Adults with Autism Spectrum Conditions, Journal of Autism and Developmental Disorders, August 2017, Volume 47, Issue 8, pp 2519–2534.


13 Jan


A recent analysis of 39 well conducted research studies found that persons with autism spectirum disorder (ASD) are less expressive overall than persons without ASD. Facial expression is an important means of communication. Being able to accurately express inner emotions is critical in conducting meaningful social interactions.

In addition, their facial expressions were found to be less consistent or appropriate to the social context. This characteristic, the authors of the study suggest, likely contributes to the deficits of persons with autism in effecting reciprocal social interactions.

Difficulty in social interaction and communication is one of the two core symptoms of Autism Spectrum Disorder (Repetitive, compulsive behaviors and resistance to change is the other).

Variations in the extent and degree of this deficit were noted in the research. Differences when compared with non-ASD persons were smaller with older age and higher intellectual functioning. This suggests that more knowledge and familiarity with social practices and norms could improve the lack of appropriate and meaningful facial expression when ASD is present. Such familiarity could come with greater socialization and experiences in variable and wider social settings.

Comment: This would imply that greater socialization and experiences with persons without ASD, in the general community, an important outcome in inclusion practices in employment, recreational, and educational settings, could ameliorate, over time, the lack of social competencies notable in persons with Autism Spectrum Disorder.

Reference: Facial Expression Production in Autism: a Meta-analysis. Dominica A. Trevisan, Maureen Hoskyn, Elina Birmingham. Autism Research, December, 2018



17 Nov


Movements need champions, without whom progress would be slow or not happening.

With the audacity to regard our organization as a force in a movement – that of drawing attention and societal resources to adults with autism, a hitherto ignored segment of the autism population, AAAP has awarded the first AAAP Champion award.

AAAP is fortunate and honored to have been exposed to a true Champion of the AAAP cause.

The first recipient of the AAAP CHAMPION AWARD is Atty Sedfrey M. Candelaria.

– He is a Master of Laws graduate of the University of British Columbia, Vancouver, Canada.

– He was the very successful Dean of the Ateneo de Manila University School of Law from 2010 to 2018.

– He now heads the Research Publications and Linkages Office of the Philippine Judicial Academy and Chairs its Department of Special Areas of Concern.

– His generosity towards AAAP fits a lifetime of service to persons in need. His writings, many written for UNICEF, have focused on human rights, refugees, children’s rights, and rights of indigenous peoples.

Atty Candelaria, AAAP is deeply grateful for your facilitating our organization’s access to the exceptional elegant and world-class level of facilities at the Ateneo Professional Schools at Rockwell Center, starting back when AAAP was a fledgling organization. We launched in February 2012. We held our first symposium at the Ateneo Law School only a few months later, in November, 2012.

For five consecutive years – from 2012 to 2016, AAAP held symposia delivered by experts on autism and related topics at Ateneo in Rockwell. These events were attended by significant leaders and members of the autism and other “special needs” community, from the government as well as private organizations.

This series of educational lectures was a significant boost to AAAP’s recognition as a resource by members of the community of families and persons with autism and their advocates. This comprised invaluable help towards our mission of improving the lives of hitherto much ignored adults with autism in the Philippines.

Atty. Candelaria, you are indeed an AAAP CHAMPION!

Congratulations and, as members of the Filipino community, my fellow AAAP members and I thank you and wish you continued success in all your future endeavors.


2 Oct

How it feels to be diagnosed with autism later in life.

Increasing numbers of adults are coming to find out that they have autism. Even earlier in life, these persons had found themselves to be different in certain ways from most of their social contacts but were unclear as to the reason why. In some cases, the recognition that they have autistic traits and, perhaps, the full condition itself, has happened because a father or mother brought their child for autistic assessment and, in the interview and testing processes of their child, recognized in themselves the items that are positive for autism.

It may also happen that the individual has certain superlative talents, such as musical, drawing, or painting virtuosity, or high level of mathematical skill, that autism related impairments are ignored or minimized. This conundrum, and the pitfalls associated with it, are discussed in the article below.

How it feels to be diagnosed with autism later in life

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