Autism Spectrum Disorder (ASD), first described in 1943, is a genetical condition that affects 1 in 59 children in the United States. Autistic people, among many other difficulties, lack the efficiency to communicate verbally and nonverbally. In other words, they “do not” acquire the same ability to imitate and pronounce sounds as others do due to the neurodevelopmental disorder. This condition not only affects communication but other skills as well. Since vocal learning is the ability to be able to imitate and produce sounds that many, if not just a few, acquire. The relationship of Vocal Learning and Autism Spectrum Disorder is a gene that allows or blocks communication. In vocal learners, the FOXP2 gene is responsible for allowing the production of sounds.
Meanwhile, in ASD, there is a mutation in the CNTNAP2 gene. The mutation of this gene, “blocks” the capacity to efficiently communicate with others as well to understand what they have been said. Operation or not of the gene does not mean that the affected person or animal will not be able to communicate. They still will be able to communicate but not as efficient. The inefficiency of verbal communication can be improved through talking therapy, hence improving social communication.
Scientists/Psychologists so far have just been able to study vocal learning through observing their behavior in their natural state and how these vocal learners communicate with each other. Although a gene has been identified to be the cause of these capacities, there is no complete understanding of the causes or functions. The FOXP2 gene has been identified to be the gene responsible for vocal learning in songbirds, meanwhile, the CNTNAP2 gene has been identified as one of the causes of the neurodevelopmental disorder autism; “Subsequently, several laboratories provided converging evidence that common and rare variation in CNTNAP2 confer risk to ASD or ASD-related endophenotypes, such as language delay or developmental language disorder…Additional complex chromosomal rearrangements and large deletions affecting CNTNAP2 (in addition to other genes) have been reported in other language-related deficits such as language delay and stuttering” (Peñagarikan & Geschwind). Variation of the gene is the cause of specific language impairment in ASD. Moreover, the anomaly of the CNTNAP2 gene reduces vocal communication, repetitive and restricted behaviors, and abnormal social interactions and causes other complications as well—hyperactivity and epileptic seizures.
Besides the biological causes of autism, the environment also influences on the gravity of this condition. Kazdoba and other researchers experimented with mice as a model to investigate the genetic mutations and the environmental factors of autism spectrum disorder. They identified three types of validity: “Construct validity requires that the animal model is generated with the same underlying biological cause, e.g., a genetic mutation, neuroanatomical abnormality, or environmental factor implicated in ASD. Face validity requires that symptoms displayed in the animal model are analogous to the human symptoms, such as social deficits and repetitive behaviors that define ASD. Predictive validity requires that treatments that are efficacious for treating the human syndrome are similarly efficacious in reversing symptoms in the animal models, such as improving social deficits or reducing repetitive behaviors” (Kazdoba et al.). ASD is due to a genetical mutation, but also due to some environmental factors that can trigger or cause this neurodevelopmental condition. In this experiment, they have found those same symptoms a child with ASD shows; the animal model has shown as well. Animals cannot get autism, but they can display similar behaviors as children with autism do; therefore, human treatments could also possibly help animals with social interaction.
As autistic children do not have a theory of mind—the ability to understand its own and other’s mental states neither joint attention—shared the focus of two people on an object, it is tough for them to “have” a social life. The absence of these qualities can make social interaction difficult for anyone; as a result, affecting verbal and non-verbal communication learning. The Raising Children Network says, “Children with autism spectrum disorder (ASD) do not tune in to other people in the same way as typically developing babies and children. A child with ASD also might not use eye contact or point with his finger to get someone’s attention or communicate. Difficulty with joint attention can make it hard for children with ASD to develop communication and language skills.” Unlike healthy children, ASD children struggle in many aspects of their life. They do not learn at the same pace, demonstrate emotions the same, neither have the same capacity to recognize emotions through facial expressions. Children with autism have difficulty with anything that has to do with emotion. Language is our way of communicating from the inside to the outside, which is an emotion. It is a way to put on how we feel at the moment in words, and some interventions can enhance this condition.
So far, we know two important factors of vocal learning: the association of the CNTNAP2 gene with ASD and specific language impairment, and that environmental influences on social interaction in children with ASD to learn to speak. To evaluate these ideas, Schoen, Paul, and Chawarska studied phonology and vocal productions on children from 18-36 months old with Autism Spectrum Disorder, “Findings suggest that toddlers with autism spectrum disorders might not tune into the language model of their environment. Failure to attend to the ambient language environment negatively impacts the ability to acquire spoken language… Articulation delays were interpreted in this study to be related to later onset of language milestones” (Schoen, Paul, & Chawarska). Toddlers with ASD are unable to interact in new environments, which leads to incapability to acquire verbal communication; as a result, delaying language milestones. This is due because, in ASD, the gene that is responsible for producing “normal” social interactions differs in this condition, making the person with ASD lack the ability to interact socially in new environments and to speak accordingly.
On the BABY lab, Michael Goldstein investigated the devolvement and evolution of communication and social learning by comparing and contrasting vocal learning in human infants and songbirds –Zebra finch–, “The study informs how birds and babies learn to vocalize inappropriate ways, but it also has implications for children with autism who struggle to pick up social cues and learn to speak” (Ramanujan). Based on his researches, Goldstein has stated that in the same way, infants learn to communicate could also be a possible solution to help children with autism. Also, social interest plays a vital role in vocal learning, “We think this bird work can help shed light on the role of these hormones in social motivation. If we identify the mechanisms and we can look at long-term outcomes, I think we could give some much-needed context for some of these autism studies,” Goldstein said (Ramanujan). Goldstein states two crucial factors that could improve vocal learning in children with autism. The first one is by exposing the child to social communication since a baby. Goldstein specifically says “children with autism” because it is a condition that must be taken care of at a young since the chances of improvement can be more significant compared to when it is a grown-up. It is easier for a kid to learn how to speak at a young age, than after having the skill absent for too long. Secondly, altering the hormones that trigger social motivation, i.e., reshaping their nature. These two factors are essential to vocal learning, according to Goldstein’s pieces of evidence.
Now that there is more knowledge of the symptoms of autism, many interventions have been developed to help autistic kids enhance their social struggles. Goldstein proposed a set of interventions that would be able to improve social development in children with autism. Expose the child to interact at a young age socially. Therapy is a very successful approach to help overcome this condition, “The most generally successful approach for children with autism is behavioral therapy. Many people think that behavioral intervention is meant only for overly rambunctious children who act out. That is not the case. Therapies for autism are the main tools for developing social skills” (O’Rourke-Lang, et al.). Behavioral therapy focuses on improving the child’s behavior by also improving parenting skills. Among all the different kinds of therapies, some have appropriately been found to be helpful for children with autism, “Current research does not say how much or what type of intervention is best, only that continuing behavioral therapy benefits a child” (O’Rourke-Lang, et al.).
Although, is required that the therapy sections start at an early stage to increase the chances of improving verbal and non-verbal communication, “Therapists recommend as many as 40 hours a week of therapy, often in a full-time, classroom-based program. Even as skills improve and children begin to make friends and improve socially, ABA often continues to play a useful role” (O’Rourke-Lang, et al.). Inconsistent intervention to the condition can hamper the progress the child has made. Therefore, it is crucial that the child consistently receives an appropriate form of therapy to overcome its struggles. ABA therapy is not the only type of behavioral therapy that therapist use to help children with social difficulties, there’s also Verbal Behavior Therapy (VBT), Cognitive Behavioral Therapy (CBT), Developmental and Individual Differences Relationships (DIR), Relationship Development Intervention (RDI), Treatment and Education of Autistic and Related Communication Handicapped Children, and Social Skills Groups. A child with autism requires careful attention and much dedication to assisting the child. Therapy is the basis for skill development.
The abilities a child with autism lacks are due to a gene mutation. All cases of Autism Spectrum Disorder are not caused by the same gene mutation, if not by many different genes that cause a neurodevelopmental disability. Some autistic people might have a variation on the CNTNAP2, FOXP2, MET, CDH9, or in the CDH10 gene. Although many of the genes that are associated with autism, none of them have been able to be reversed (i.e., cured); however, “With MeCP2, they found, at least in mice, that they can reintroduce the protein into the brain. They can completely rescue the phenotype, which is amazing because it is a really bad intellectual disability, and you think that has all these impacts on brain development. However, there is in mice, so far, at least, that it completely reverses the phenotype. This might not be the case in all types of autism. There is at least the possibility for certain cases that there can be some sort of gene therapy that’s done that will help or cure certain cases” (Keyte), also “Recent studies using rodent models demonstrated that re-expression of MeCP2 ameliorates Rett-syndrome-like phenotypes. Therefore, gene replacement therapy is a promising therapeutic strategy for this disease” (Powers et al.). Rett syndrome differs from autism very slightly. The relationship of these syndromes—Autism and Rett—are the problems with language.
Another alternative for early intervention would be whole genome sequencing and genome editing. Sequencing the genome of parents before they have kids, they can see the chances of having a child with this condition, “Probably for most cases of autism, the best approach is going to be a matter of screening. Gene therapy consists of introducing a virus that will knock down the target” (Keyte). On the other hand, genome editing consists of making specific changes in the genome of a living organism. Researchers at the University of California, Berkeley, modified the genome of normal mice with fragile X syndrome and compared behavior traits with a regular mouse. It was found that the behavior of the mouse with fragile X syndrome drastically differed from the normal mouse, “This study was the first instance in which Cas9 was able to successfully knock out a gene on the brain to demonstrate therapeutic effects.
CRISPR associated protein 9 (Cas9) is the specific enzyme responsible for making specific cuts to DNA, often referred to as ‘molecular scissors’… After being injected directly into the striatum (brain region dictating habit formation) of the mice, Cas9 can cut out specific segments of DNA in a manner that eliminates genes associated with autism” (Carfagno). After the genome of the mice with fragile X syndrome was edited, the behavior traits changed utterly. The mice decreased its obsessive digging. Genome editing has only been performed in animals so far, but this also could mean that in the future genome editing could be a potential cure for behavior issues as well as to eliminate other conditions.
Among all the different kinds of interventions that can be done to reduce the risks of autism, genome editing does not seem to be the most adequate. The thing with CRISPR gene editing is that it is not precise nor safe. This procedure is very delicate, and the alteration of a base pair—a unit of DNA, could cause another effect. Also, genome editing is a short-term solution. There are many solutions to help children with autism overcome their difficulties, as well as many factors that influence the development of the disease. Although it does not mean that those risk factors cannot be limited, the environment can always be modified. Early intervention therapy can make an enormous change in the behavior and development of the child.
“Gene therapy would help or cure certain cases. In order cases, where there is a structural change that has happened in brain development that is probably not curable as it is something that happened so early in brain development, even then knowing about vocal learning, and the gene pathways that are involved, the environmental aspects that are involved in feeding those genetic pathways. Knowing those factors can help ameliorate symptoms, or if the mother would like to do a prenatal screening to see if the baby is going to have autism. In that way, they could have an elective abortion, but they also have the option of knowing if their baby is potentially going to have a problem and get early intervention. Early intervention can help decrease some of the symptoms and grow in a better way” (Keyte)…If they have a therapist that is working with them, that can improve their social interaction and language as well. With autism, the first step would be to able to identify the gene that causes autism at a steady rate because even if you have the gene, it does not mean that you have autism. If you know that you have this risk factor and we know more about the environmental insults that are going to give the second hit, that is something that can be prevented, potentially. Nevertheless, even though we need to know more about what is happening” (Szi).
According to the shreds of evidence, it seems like the best solution to improve vocal learning in children with autism is with therapy. Therapy is a long-term solution despite genome editing, that is a short-term solution. Altering the DNA would be like changing the nature of the child, also not to mention that it is not one hundred percent accurate. Eliminating one cause might lead to another, and so on. However, proceeding with therapy as early intervention, it has to be taken into consideration that many risk factors can harm the progress of the child, such as the environment. ASD goes beyond a gene mutation. The best way to help a child overcome its struggles is with consistent work on the problem by starting to work on its fears. Also, this technique is the safest as the child at the same time, learns how to coexists with other people, and get used to the presence of strangers in the same environment. Give these points: the credibility of these sources is very reliable. Since this is a scientific topic, all the information provided comes from professional researches, and more than one source shares information based on the same ideas and purposes.
Works Cited
“How Autism Spectrum Disorder Affects Learning and Development.” Raising Children Network, 18 Dec. 2018, https://raisingchildren.net.au/autism/learning-about-asd/about-asd/how-asd-affects-development.
Carfagno, Jack, et al. “Ending Autism with Genomic Editing?” Docwire News, 16 July 2018, https://www.docwirenews.com/future-of-medicine/ending-autism-with-genomic-editing/.
Kazdoba, Tatiana M, et al. “Translational Mouse Models of Autism: Advancing Toward Pharmacological Therapeutics.” Current Topics in Behavioral Neurosciences, U.S. National Library of Medicine, 21 Nov. 2016, https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5116923/.
Keyte, Anna, and Szi, Christina, interviewee. Interview. 18 Oct. 2019, Laboratory of Neurogenetics of Language, Rockefeller University, New York City, NY.
O’Rourke-Lang, Christine, et al. “Which Behavior Therapy Works Best for Children with Autism?” ADDitude, 13 Aug. 2019, https://www.additudemag.com/which-behavior-therapy-works-best/.
Peñagarikano, Olga, and Daniel H Geschwind. “What Does CNTNAP2 Reveal about Autism Spectrum Disorder?” Trends in Molecular Medicine, U.S. National Library of Medicine, 25 Feb. 2012, https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3633421/.
Powers, Samantha, et al. “Rett Syndrome Gene Therapy Improves Survival and Ameliorates Behavioral Phenotypes in MeCP2 Null (S51.002).” Neurology, Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology, 9 Apr. 2019, https://n.neurology.org/content/92/15_Supplement/S51.002.
Ramanujan, Krishna. “Social Cues Are Key to Vocal Learning in Birds and Babies.” Cornell Chronicle, 25 July 2017, https://news.cornell.edu/stories/2017/07/social-cues-are-key-vocal-learning-birds-and-babies.
Schoen, Elizabeth, et al. “Phonology and Vocal Behavior in Toddlers with Autism Spectrum Disorders.” Autism Research: Official Journal of the International Society for Autism Research, U.S. National Library of Medicine, 9 Feb. 2011, https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3110574/.
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