By Devanshi Saxena
Combined with the physical and mental ordeal that is a part of every health disorder, social difficulties always have the most devastating impact, and when it comes to initial challenges in the diagnosing of Autism Spectrum Disorder (ASD), the ‘social’ becomes all the more crucial. Currently, there is no absolute treatment for ASD. However, the results of a research at the University at Buffalo indicate that it may soon be possible to alleviate the behavioural symptoms of autism spectrum disorder by targeting sets of genes involved in the disease and most importantly, only a single compound can be used to treat the target gene. An anti-cancer drug, ‘romidepsin’ was used during the research process where it restored social deficits in animal models of autism in a sustained fashion.
What is Autism Spectrum Disorder?
A group of developmental disorders characterise Autism Spectrum Disorder (ASD) using a wide spectrum of symptoms, skills, and levels of disability. ASD patients face difficulty in communicating and interacting, thus adversely affecting their ability to function socially, at school or work, as well as other areas of life. Symptoms of ASD can be typically discerned during the first two years of life. While some people are mildly affected by the ASD symptoms, some others may be severely impaired by them. Medical treatments and rehabilitation are the ways to deal with ASD in the most effective way possible. Prevention is better than cure, and proper medical counselling in case of any health-related concern should be done to ensure a speedy recovery. As per the data obtained from the Centre for Disease Control and Prevention (CDC), around one in 68 children have been identified with some form of ASD. ASD symptoms appear in children before three years of age, although diagnosis can be done after the age of three. As of now, there is no permanent cure for ASD, but there are provisions for speech and language therapy, occupational therapy and educational support for the patients to help them and their families in dealing with ASD.
Symptoms of ASD
The major symptom of ASD is the problem in continuing with social interaction and communication. In early infancy, children with ASD do not make vocal sounds and older children have difficulty in using non-verbal mode of communication. Unable to comprehend the nuances of maintaining eye-contact, facial expressions, body language and gestures, ASD patients tend to avoid socialising. They find it hard to understand other people’s emotions and find it problematic to be a part of the conversations. Language development may be delayed, and a child with ASD cannot compensate their lack of language skills by using gestures or facial expressions. ASD patients also engage in repetitive activity, such as turning light switches on and off, opening and closing doors, or lining things up.
Children and young people with ASD frequently experience a range of cognitive learning, emotional and behavioural problems. They may also have attention deficit hyperactivity disorder (ADHD), anxiety, or depression. About 70 percent of children with ASD have a non-verbal IQ below 70. Of these, 50 percent have a non-verbal IQ below 50. To sum up, 50 percent of people who face severe learning difficulties suffer from ASD.
Prevalence of the disorder in the world
Over the past decade, estimates of increases between 50 percent to over 2000 percent in cases of Autistic Disorder diagnoses have been charted, studied and discussed. Population-based studies conducted before 1985 identified the prevalence of autism and related conditions among children under 18 years old to be approximately 0.5 per 1,000 children. The CDC’s most recent studies suggest that children meeting the “Autistic Disorder” criteria range in numbers up to 12 per 1,000 children, worldwide. In the USA, rates of autism climbed “greater than tenfold” from rates identified during the 1980s, to a current estimate of 1 in 110 children (1 percent) diagnosed with autism. Puzzling and confirmed through research, are the facts that there are no genetic or biological markers for early and consistent identification of autism and there is no cure for the disability. Current estimates of the lifetime costs to care for a child with autism ranges from $3.5 million to $5 million.
Treatment methodology and its effect
Though incurable, three main types of treatment can be used to effectively manage ASD.
- Educational/behavioural interventions: Behavioral therapy is the mainstay treatment for children with autism. This therapy helps them to inculcate new skills, and improve their language and social abilities. Social skills training, for example, can teach individuals with ASD how to interpret gestures, eye contact, voice intonation, humour, and sarcasm. Cognitive behavioural therapy can help to manage obsessive behaviour and anxiety.
- Medication: If behavioural and educational interventions aren’t sufficient, medication may help an individual with ASD to better manage his symptoms. Three main classes of medication are used with ASD patients; stimulants, antidepressant and anxiety medications, and atypical antipsychotics.
- Treating ASD with alternative therapies: Many people resort to alternative therapies, though their effectiveness and safety are not as well-researched. Auditory integration training (AIT) can help improve auditory processing deficits and concentration. It involves listening to electronically modified music, voice, or sounds to improve function. This can be beneficial for people with ASD who have trouble listening or focusing. Amino acids, which can act as neurotransmitters, may help regulate serotonin levels of people with ASD and studies have reported mild improvement in symptoms with the use of B6/Magnesium supplements
The ongoing research and its impact on the treatment of ASD
As per the research published in the Nature Neuroscience, brief treatment with a very low dose of romidepsin, a Food and Drug Administration-approved anti-cancer drug has the potential to restore social deficits in animal models of autism in a sustained fashion. The three-day treatment reversed social deficits in mice deficient in a gene called Shank 3, an important risk factor for ASD. This effect lasted for three weeks, spanning the juvenile to late-adolescent period, a critical developmental stage for social and communication skills. That is equivalent to several years in humans, suggesting that the effects of a similar treatment could potentially be long-lasting, according to researchers.
According to Prof. Zhen Yan, senior researcher in the Department of Physiology and Biophysics in the Jacobs School of Medicine and Biomedical Sciences at UB, “we have discovered a small molecule compound that shows a profound and prolonged effect on autism-like social deficits without obvious side effects, while many currently used compounds for treating a variety of psychiatric diseases have failed to exhibit the therapeutic efficacy for this core symptom of autism.”
Human genetic studies have suggested that epigenetic abnormalities play a major role in ASD. In the new research, the UB scientists discovered that a very low dose of romidepsin restores gene expression and function using an epigenetic mechanism, where gene changes are caused by influences other than DNA sequences. With this discovery, scientists inferred that the use of romidepsin could be used to reverse the social deficits associated with ASD. In the research, it was found that romidepsin restored more than 200 genes that were suppressed in the autism animal model they used.
The discoveries of this research are very significant in the field of treatments and therapies. “The advantage of being able to adjust a set of genes identified as key autism risk factors may explain the strong and long-lasting efficacy of this therapeutic agent for autism”, Yan explained. The researchers plan to explore the other avenues of their research with specific focus on discovering and developing better therapeutic agents for autism.
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