Autism: When the brain gets in the way

02/04/2020

First described by Austrian child psychiatrist Leo Kanner in 1943, autism in many ways continues to be a mystery. It’s a brain development disorder for which there is still no cure: an autistic child will become an autistic adult. While research is ongoing, psychosocial support can ease the burden on young patients, gradually making them more independent.

Appearing in early childhood, the first signs of autism can manifest at as early as 6 months of age. The various forms of the disorder are grouped into a broader category called Autism Spectrum Disorder (ASD), which better encompasses the vast range of symptoms and situations. Major symptoms include, among others, an impairment in social relationships and communication (language and nonverbal communication, repetitive or stereotypical behavior and speech). People with autism have a social disability, appearing to be walled off in their own world or easily overwhelmed on a sensory level.

Autism is sometimes, but not always, associated with sleep disorders, depressive or anxiety disorders, learning difficulties, attention deficit disorder with or without hyperactivity (ADHD), and epilepsy.

The intellectual level of those with ASD varies greatly, ranging from profound impairment to superior capability. For example, there are some people with Asperger’s syndrome who have become famous for their scientific or artistic talent, such as pianist Glenn Gould, world chess champion Bobby Fischer, and physicist Paul Dirac.

1 OUT OF 160
1 out of 160 children have ASD according to the World Health Organization (WHO). This is only an imprecise estimate, as many low- and middle-income countries do not have figures for the disorder.1
1 OUT OF 59
This is the reported incidence of ASD estimated in the United States for 2014. For 2002, it was only 1 child out of 150.2 This increase, observed as well in other countries, could be due to an actual increase in the number of cases, but could also reflect a greater awareness of autism, broadened diagnostic criteria, and/or improved diagnostic tools.
3 TO EVERY 1
3 boys to every 1 girl: Autism seems to be more prevalent in boys, but it could also be not as well identified in girls.3

Genetic and environmental causes

ASD is due to very early abnormalities in brain development, occurring from the prenatal stage. Medical imagery has indeed shown defects in the organization of neural networks dedicated to social communication and behavior.

As autism is a multifactorial disorder with a possible genetic cause, it therefore follows that being a boy and having a family history are recognized risk factors. Parents who have a first child with autism are up to 18% more likely to have a second child also affected.4

Certain symptoms associated with autism may also be observed in children with chromosomal abnormalities, including Down syndrome (trisomy 21) and Fragile X syndrome, a rare genetic disorder and the most common form of hereditary intellectual disability (1 out of 4000 men; 1 out of 8000 women).

Other environmental factors could also be involved, including premature birth, foetal exposure to maternal infection or to certain chemical substances (including endocrine disruptors, which alter hormone functioning), or exposure to certain anti-epileptic drugs prescribed to the mother during pregnancy.

Psychosocial care

Psychosocial care is based first and foremost on behavioral therapy and parent training programs. Such programs are individualized and adapted according to the development of the child, then the adolescent, and then the adult. Based to a large degree on play, targeted approaches are aimed at developing language, cognitive skills, behavior, and emotional control. The objective is to make the child as independent as possible.

These methods involve using exercises and small gestures/actions intended to structure the child’s environment, organization, temporality, and space, enabling the child to acquire new skills.

Potential avenues for medical research

To date, there is no medicinal treatment that can cure or even alleviate autism. Certain medications are prescribed to treat associated conditions. Research continues: promising treatment avenues include medicinal products that reduce symptoms by lowering the concentration of chlorine in brain cells.

AND SERVIER?

Servier has been present in the field of neuropsychiatry for several decades. Research and development teams focus their work on neurodegenerative disorders, targeting toxic proteins responsible for neuronal degeneration, as well as neurodevelopmental disorders, such as autism, in order to provide innovative therapeutic solutions.

Servier is helping to develop a therapy for children and adolescents with autism spectrum disorder that can be integrated into the multidisciplinary management approach of the disorder. The aim is to improve social interaction and communication in people with ASD, as well as their restrictive and repetitive behaviors.

KEY POINTS

  1. EARLY TREATMENT

    The earlier the treatment, the better the results. If there are observable warning signs starting at 6 months of age, clinical diagnosis can be made from 18 months.
  2. BEWARE OF FAKE NEWS

    Autism is a syndrome that is still poorly understood, so beware of misleading or incorrect information: The disorder has nothing to do with the character of the parents, or with their education. Neither screens nor measles-mumps-rubella (MMR) vaccinations are responsible for autism. The persistent mistrust of vaccines is based on an erroneous study. All links have been categorically ruled out.
  3. CONTACT ASSOCIATIONS

    Do not hesitate to contact associations that can provide information and help to patients, children or adults, as well as to their parents.

Sources

1https://www.who.int/fr/news-room/fact-sheets/detail/autism-spectrum-disorders
2https://www.cdc.gov/ncbddd/autism/data.html
3https://www.ncbi.nlm.nih.gov/pubmed/28545751
4https://www.cdc.gov/ncbddd/autism/data.html