Introduction
Autism Spectrum Disorder (ASD) is a neurodevelopmental condition marked by difficulties in social communication, behavioural patterns, emotional responsiveness and sensory processing. Each individual’s experience with ASD is unique, presenting a spectrum that ranges from mild to severe. It is estimated that worldwide, about 1 in 100 children have autism (WHO, 2023). Understanding and addressing the needs of individuals with ASD can greatly enhance their quality of life.
Risk Factors for Autism
There is no single risk factor for autism; it involves a combination of environmental and Genetic factors with underlying causes that contribute to its development. Large studies have found a link between prenatal conditions and ASD, like the use of antiepileptic drugs during pregnancy, especially Valproate, which may raise the risk. (Wiggs, 2020). Advanced parental age at birth (Sandin, 2015), exposure to environmental toxins such as pollutants and heavy metals (Rossignol, 2014).
In a study, baby teeth were utilised to measure and compare lead, manganese, and zinc levels between children with autism and their twins who did not have the disorder. Zinc and manganese, two necessary elements, were low in children with autism, but lead, a harmful metal during particular developmental stages, was more prevalent. (Arora et al.,2017) Severe maternal illnesses during pregnancy can also contribute to the risk. One way that a mother’s immune system might affect the development of a baby’s brain is through specific autoantibodies. When these antibodies target proteins in the baby’s developing brain, it can interfere with development. This may contribute to a type of autism known as maternal autoantibody-related autism.
(Jones, 2018) Genetic mutations and family history are also important factors. According to studies, people with ASD exhibit variations in brain size and shape, such as abnormal acceleration of head growth during infancy (Molani-gol et al., 2023). Prenatal nutrition deficiencies, notably in folic acid, have been linked to the risk of ASD (Liu,2021). Folic acid, found in prenatal vitamins, provides protective benefits during pregnancy. Not only this but during the postnatal period, the risk factors could be low birth weight, postpartum haemorrhage and brain anomaly.
Understanding these risk factors can aid in early detection and intervention for people at risk of developing ASD.
What Are The Most Common Genetic Risk Factors For Autism
- Family History: Having a family history of autism increases the risk; i.e. siblings of children with autism have a higher risk compared to the general population. Lichtenstein et al., in 2010, found that genetic effects accounted for 80% of the variation in liability for autism spectrum disorders.
- Genetic Mutations: Rare gene mutations are thought to be one of the factors. These mutations include single gene mutation and copy number variations. Many common gene variations are thought to affect the risk, but not all individuals with one or more of these variations will be affected.
- Rare Genetic syndromes: Some genetic syndromes may share common biological pathways or mechanisms with autism. Genetic syndromes like Fragile X syndrome caused by mutation in FMR1 Gene, Rett syndrome due to mutation in MECP2 Gene and Tuberous Sclerosis are associated with the risk of autism.
- De Novo Mutation: These genetic alterations arise spontaneously and are not inherited from either of the parents. These mutations occur during the formation of gametes or embryonic development and disrupt normal brain development and function, contributing to neurodevelopmental features observed in ASD.
Though genetic factors are essential in autism, environmental influences frequently interact, emphasising the necessity for a holistic strategy to manage the risk.
Early Warning Signs Of Autism
- Social Reciprocity: Limited use of gestures, expressions. children might not respond to their names by 12 months or have difficulty understanding and engaging in typical social interaction. May not maintain appropriate eye contact. Difficulty tracking someone else’s gaze or pointed finger towards an object.
- Language and communication challenges: Difficulty in expressing their needs verbally and nonverbally. Individuals with ASD sometimes also have rigid and repetitive speech and might continuously repeat a word which they have heard- known as echolalia. The repetition can occur right after what is heard or sometimes after some delay, which is known as delayed echolalia.
- Self-stimulating Behaviors: Often called as “Stimming”-involves repetitive movements or sounds such as flapping hands, rocking back and forth, looking at something sideways, spinning, humming, whistling. These behaviors help to regulate sensory experiences to achieve a more balanced sensory state. It also plays a role in emotional regulation and form of communication for nonverbal individuals with ASD.
- Emotional responsiveness: Individuals with autism may not show the expected feelings in situations. They have difficulty understanding the emotional cues of others and might also struggle to express and regulate their emotions, which sometimes leads to emotional outbursts. (Uljarevic & Hamilton, 2013)
- Sensory sensitivities: Children might be hypersensitive or hypersensitive to sensory stimuli, i.e., they might be extremely bothered by loud noises, certain textures, and bright lights, or they might not respond to sensory changes like pain, temperature changes or might try to seek stronger sensory experience.
Causes of Risk Factors for Autism
The causes of risk factors involve a combination of genetic and environmental factors.
- Maternal infections: Maternal infections are important prenatal factors as they trigger immune responses and release inflammatory molecules which may cross the placental barrier and disrupt the baby’s brain development. Inflammation during pregnancy is known to be a major risk factor for neurological conditions, including autism. However, a recent study conducted in Sweden found only an association and not a direct cause-and-effect relationship between maternal infection and Autism.(Atladottir,2010; Brown,2014; Brynge,2022)
- Perinatal and Postpartum factors: More and more studies have found that several perinatal and postpartum factors could be the contributing cause of ASD (Glasson, 2004; Gardener,2011), such as umbilical cord complications, fetal distress, birth injury or trauma, multiple births, maternal haemorrhage, premature delivery, low or very low birth weight, small size for gestational age, congenital malformations, low Apgar score and neonatal anaemia.
- Environmental factors: Also, exposure to Environmental factors like heavy metals such as lead and pollutants may lead to inflammation and mitochondrial dysfunction, impairing functions of neural enzymes.
- Medication: (Chen, 2016) Certain medications taken during pregnancy, such as Valproic acid, may induce neurotoxicity in the central nervous system of children.
- Proper nutrition at the time of pregnancy: Proper nutrition is important for the growth of the fetal brain, but inadequate levels of prenatal vitamins may contribute to the prevalence rate of autism.
- Genetic syndrome: Last but not least, Genetic syndromes like Fragile X syndrome, caused by mutations in the FMR1 gene, are known to increase the risk as these mutations may lead to changes in brain structure and functions, which may be associated with ASD.
How to deal with Risk Factors for Autism
- Genetic counselling: Families with a history of autism may benefit from genetic counselling to understand the risks and implications of future pregnancies. Genetic counsellors provide support and connect families with suitable resources that can aid in the early detection and management of autism.
- Environmental Factors: Minimize exposure to environmental toxins during pregnancy like pesticides, heavy metals and pollutants which may contribute to ASD. When children are exposed to high amounts of air pollution and have a mutation in the MET gene, there may be an elevated risk. (Volk,2014) Efforts to reduce exposure could be living in areas with lower pollution levels or using air purifiers might help mitigate the risk.
- Maternal Health: Managing maternal health conditions like Diabetes, Obesity and other maternal infections during pregnancy is essential, as maternal diabetes or obesity is linked to an increased likelihood of having a child with autism or other developmental disability. (Krakowiak et al., 2012)
Regular health checkups and a balanced diet with folic acid and vitamin D are necessary. Ensuring a diet free from excessive additives and contaminants can support overall health as well. - Awareness and Education: Increasing awareness and education about autism can help in early detection and intervention; it is important for better management. Research indicates that early and targeted interventions can significantly improve developmental outcomes for children with autism. (Reichow,2009)
- No self-medication: It is essential to talk to healthcare providers or doctors about any medications one is taking or considering taking, especially if the individual is pregnant or planning for the same.
Conclusion
In conclusion, Autism could be shaped by both genetic and environmental factors, it highlights the importance of early intervention. Recognizing the risk factors and addressing them promptly can lead to better outcomes. Autism is not a curse but a condition, with appropriate support, enables individuals to lead fulfilling lives and reach their potentials.
References
Arora M, Reichenberg A, Willfors C, Austin C, Gennings C, Berggren S, Lichtenstein P, Anckarsäter H, Tammimies K, Bölte S. (2017) Fetal and postnatal metal dysregulation in autism.
Brynge M, Sjöqvist H, Gardner RM, Lee BK, Dalman C, Karlsson H. (2022) Maternal infection during pregnancy and the likelihood of autism and intellectual disability in children in Sweden: a negative control and sibling comparison cohort study. Lancet Psychiatry.
Chen, P., Miah, M. R., & Aschner, M. (2016). Metals and neurodegeneration.
Emma J. Glasson, Bp. (2004). Perinatal factors and the development of autism. Archives of General Psychiatry.
Gardener, H. (2011). Perinatal and neonatal risk factors for autism: A comprehensive meta-analysis. Publications.aap.org.
Krakowiak P, Walker CK, Bremer AA, Baker AS, Ozonoff S, Hansen RL, Hertz-Picciotto I. (2012) Maternal metabolic conditions and risk for autism and other neurodevelopmental disorders.
Lichtenstein, P. (2010). The genetics of autism spectrum disorders and related neuropsychiatric disorders in childhood.
Liu, X., Zou, M., Sun, C., Wu, L., & Chen, W.-X. (2021). Prenatal folic acid supplements and offspring’s autism spectrum disorder: A meta-analysis and meta-regression. Journal of Autism and Developmental Disorders. SpringerLink.
Molani-Gol, R., Alizadeh, M., Kheirouri, S., & Hamedi-Kalajahi, F. (2023). The early life growth of head circumference, weight, and height in infants with autism spectrum disorders: A systematic review. BMC Pediatrics.
Reichow B, Wolery M. (2009) Comprehensive synthesis of early intensive behavioural interventions for young children with autism based on the UCLA young autism project model. J Autism Dev Disord.
R. D. S. (2014). Environmental toxicants and autism spectrum disorders: A systematic review. Translational Psychiatry
Sandin, S. (2015). Autism risk is associated with parental age and with increasing differences in age between the parents. Molecular Psychiatry.
Uljarevic, M., & Hamilton, A. (2013). Recognition of emotions in autism: A formal meta-analysis. Journal of Autism and Developmental Disorders.Volk HE, Kerin T, Lurmann F, Hertz-Picciotto I, McConnell R, Campbell DB (2014). Autism spectrum disorder: interaction of air pollution with the MET receptor tyrosine kinase gene. Epidemiology
Wiggs, K. K., & Rickert, M. E. (2020). Antiseizure medication use during pregnancy and risk of ASD and ADHD in children.World Health Organization. (2023). Autism. World Health Organization.