Tag Archives: autism

Low Functioning Autism’s Genetic Roots

I am currently taking at genetics course at Duke University, hence the inspiration for my last post. One of my assignments also looked at a correlation between genetics and autism I thought I would share it on here! I hope you enjoy reading :)

A new study published in the American Journal of Human Genetics has found evidence suggesting a recessive genetic component to low-functioning autism. Professor Eric Morrow and his colleges of Brown University analysed the DNA of over 2,100 children born with autism into “simplex” families, families where only one child suffers from autism and no other immediate family (Brown University, 2013). Morrow et al. investigated the genomes of the autistic children and their siblings for “runs of homozygosity”; runs of homozygosity refer to long strands of DNA that are contributed to a child’s DNA by both parents (ibid). Morrow and his colleges discovered that the children with low-functioning autism had longer runs of homozygosity compared to the DNA of their siblings. Normally, as humans we do share large blocks of DNA sequences; nearly all the participants had at least 1 million letters in common. In fact, about 1/3 of all the participants had about 2.5 million shared letters, which translates to a “shared common ancestor approximately 40 generations or 1,000 years ago” (ibid). However, in 500 of the participants, where the autistic children had an IQ below 70, the runs of homozygosity surpassed even the 2.5 million mark and the runs of their siblings. The original article, titled “Intellectual Disability Is Associated with Increased Runs of Homozygosity in Simplex Autism” stresses that increased runs of homozygosity do not predict low-functioning autism; yet, a greater number does increase the likelihood of carrying the shared “recessive variants” necessary for developing low-functioning autism (Morrow et al., 2013). Basically, Morrow et al. concluded that the longer runs of identical DNA lettering meant that a child was far more likely than other children, even their own siblings to inherit rare genetic traits.

These findings are relevant to the course as they illustrate that a pedigree for low-functioning autism exists even if the carried recessive trait is extremely illusive in simplex families. Unfortunately, the whole picture of the genetics behind autism is still a bit of a blur; however, the established correlation between low-functioning autism and runs of homozygosity does suggest that inheritance does play a role and that individual errors are far less likely to be the only possible perpetrators of autism.

The role of inheritance in low-functioning autism is a breakthrough considering the elusiveness of the disorder. Currently, most genetic explanations for low-functioning autism focus on “spontaneous mutations and having too many or too few copies of a gene”; however, in some families these hypotheses fail to explain their particular case of autism (Brown University, 2013). Runs of homozygosity at least allows for parents to look somewhere new for answers. In fact, if a test is run on the child at an early age, high runs of homozygosity might help health professionals guide the development of the child by focusing treatment on the particular associated issues such as problems with speech and social interaction. With all genetic testing it seems people are weary; however, given that autism is very difficult to diagnose without symptoms, I feel that testing for runs of homozygosity in the early stages of a diagnosis can only be beneficial for parents trying to understand their child’s diagnosis. Furthermore, continued genetic testing on children from simplex families can only increase the likelihood of fine-tuning the genetic component of low-functioning autism.


Brown University (2013, July 3). DNA markers in low-IQ autism suggest       heredity. ScienceDaily. Retrieved July 4, 2013, from            http://www.sciencedaily.com­/releases/2013/07/130703140236.htm

Assignment: Part of Biology 156 at Duke University


Anorexia and Autism?

A new study lead by Professor Simon Baron-Cohen of Cambridge University suggests that girls with anorexia have a higher than average “number of autistic traits” (University of Cambridge, 2013). These traits include an “above average interest in systems” and a below average empathy score (ibid). Considering the rigid personality, attitudes and behaviours of anorexics and their obsessive thought patterns in relation to body weight, body image and eating patterns it is not difficult to see how they can be interpreted as typical of autism.













n the study, first published the Journal of Molecular Autism, Baron-Cohen et al. assessed 66 girls between the ages of 12 and 18 with anorexia but no history of autism for autistic traits. A control group of over 1,600 neurotypical teens in the same age group were also given the same assessments including the the Autism Spectrum Quotient (AQ), Systemising Quotient (SQ) and the Empathy Quotient (EQ). Results showed that compared with the control group, the anorexic girls were five times more likely to score in the autistic spectrum. More than 50% of the anorexic girls fell into the “broader autism phenotype” compared with only 15% of the control (ibid). Furthermore, the anorexic girls also scored a higher SQ and lower EQ which also points towards an autistic personality.

As interesting as these results are there is indeed a practical application. Cases of autism are far more prevalent in males; however, Baron-Cohen’s findings show that perhaps autism in young girls is being overshadowed by a diagnosis of anorexia. Dr Tony Jaffa, co-leader of the study confirms that the new correlation between autistic traits and anorexia will give health professionals and researchers a new means to help those suffering from the eating disorder. He remarks:

“For example, shifting their interest away from body weight and dieting on to a different but equally systematic topic may be helpful. Recognising that some patients with anorexia may also need help with social skills and communication, and with adapting to change, also gives us a new treatment angle”