AbstractAutismSpectrum Disorder (ASD) is a neurodevelopmental disorder in which thedevelopment of the central nervous system is disturbed. This disorder ispresent in early childhood and is defined by deficiency in social behaviorincluding communication and repetitiveness. ASD is a multi-factorial disorderthat varies pervasiveness, severity, and onset; it affects 1% of thepopulation, although males are diagnosed more often than females. One prominentcharacteristic such as sex steroid and testosterone, has wide-ranging influenceon phenotypic variability related to autism. Emerging neuroimaging evidencealso supports a role for fetal testosterone affecting individual differences instructural and functional brain development in directions congruent withpatterns of sexual dimorphism, and in brain regions known to develop atypicallyin autism and other sex-biased developmental psychopathologic conditions. Specificparts of the brain are usually affected in how neurons trigger differentdeficits to ASD.
The Diagnostic and Statistical Manual of Mental Disorder(DSM-5) puts Autism in these categories Asperger Syndrome, childhooddisintegrative disorder, and pervasive developmental disorder as part of ASD. Adiagnosis for ASD includes looking for intellectual disability and language impairment,which is common to autism. ProblemStatementAccordingto Autism Speaks, they estimate Autism prevalence is increasing 1 in 68children, (1 in 42 boys and 1 in 189 girls in the United Stated), making boysfive times more likely than girls to have autism. Although there is no knowncure for autism, it can be detected and diagnosed as early as 18 months in somecases. Out of those children who are diagnosed with Autism, one third willremain non-verbal and around one third will have an intellectual disability.
Much of the focus regarding ASD characteristics are based on certain medicaland mental issues which are a mutation or deletion of genes in a child’schromosomes which do not appear in the parent’s chromosomes. Most of the moreobvious signs always appear between 1 and 2 years of age. Some of the frequenthealth issues that tag along with autism include, gastrointestinal disorder,Seizures, sleep problems, attention deficit disorders, ADHD, and phobias arealso seen. People who have a desire to become parents should consider genetictesting before having children. Families will benefit from knowing whatbiological and environmental effect increase the chance of having a child withAutism Spectrum Disorder. LiteratureReview Genetic and Environmental FactorsBiologicalresearch has shown that genetic and environmental factors contribute to a majorrole in the development of ASD. There isn’t no single factor that explains thetrends in the pathology of autism. Autism affects males more than females.
Research done by (Garber K Neurosciences 2007), he conducted a study on Turnersyndrome, which showed a comparison with autism that impaired socialinteraction is impacted where the X chromosome was inherited from the mother.He then came up with the conclusion that the gene locus related to cognitivebehavior is in the X chromosome with the males. Genetic disorders that causemental retardation and are closely related to autism is fragile X syndrome.This syndrome does appear more in females, these symptoms affect the brain andbody with mental retardation, facial characteristics, attention deficit,hyperactivity, hypoesthesia, and emotional instability (SüdhofT.C. and neurexins 2008).
These factors play a majorrole in the developmental state of autism, and chromosomes are going to playand decide what role is being taken into our bodies. Chromosome X which occursfor males plays its major role in this syndrome. A highly controversial subject with Autism’sis associated with vaccinations. Routine vaccines for measles, mumps,rubella, diphtheria, pertussis, and tetanus have long been claimed to increasechances of Autism (Roberts W, HarfordM. Immunization and children at risk forautism. Paediatr Child Health. 2002).
None ofthese environmental factors of MMR vaccine has drawn particular attention sincethe study conducted by Wakefield et al 2007. The University of Norway proposed that the MMR vaccine may be acausative factor in the development of autism spectrum disorder. Sincethis initial publication, immunization remains controversial for some parentsand the uptake of the MMR vaccine has fallen in some countries, despite muchdiscussion regarding the safety of MMR, a lack of evidence for an associationbetween MMR and autism, and the risks of insufficient protection against wildmeasles virus infection.
Studies on Autism in California have demonstrated nocorrelation between increased rates (Wakefield and Murch S.H 1998). Noincreased risk for autism for children who had been vaccinated with a thimerosal-containingpertussis vaccine compared with children who had been vaccinated with the samepertussis vaccine formulated without thimerosal.
Therefore, more commonresearch leads to be believe that there is no correlation between the vaccinesand autism. Brain Development and SpeechAutismhas been linked to many changes of the developing brain. Children who aregrowing to adults must develop a very important aspect of life, speech.Children who fail to developlanguage comprehension, sophisticatedexpressive and receptive language as a toddler may be the early signs of early autism(Fenson et al., 1994). Toddlers who will eventually develop autism, will missor are slow to achieve this important milestone that only occurs in our childhood.In fact, delay in language is reported as the strongest and earliest red flag.Infants demonstrating the ability to discriminate phonemes within the firstweeks of life, and can’t recognize their own name at 4 months will alsodiscriminate familiar from unfamiliar words by 7 months.
This neuralabnormality must begin early in development in babies that will eventually showautism. (Eimas et al., 1971; Werker and Lalonde, 1988). Babies are ready tospeak a language from birth, or even when they are inside the utero.
Around 2years old, children develop verbal transmission skills. One area of the brainlocated were the temporal lobe and parietal lobe meet in the left hemisphere isthe Wernicke’s area, where language comprehension is dealt with. Another partof the brain located in the same region as Wernicke is the Broca’s area, wherespeech articulation is dealt with exclusively. Both sides of the brain developvery alike, the left hemisphere outgrows the other by the age of 5 in 95% ofthe time, and speech area in the right hemisphere starts being used for otherpurposes, like gestures. According to research findings by (Rita Carter University of California Press. Berkeleyand Los Angeles, California 1999), right-handed people use their frontal lobeon the left side of the brain to carry verbal transmissions, and the one on theright side of the brain to understand others’ feelings through non-verbaltransmissions such as facial expressions, body movements and tone of voice. Broca’s area is located forward of Wernicke’sarea, on the side of the frontal lobe. It is located adjacent to the part whichcontrols motor areas such as the jaw, the pharynx, the tongue and the lips.
When there’s damage to Broca’s area, people simply cannot speak, even thoughthey may understand what is being said to them and know exactly what to say.What comes out of their mouth are only fragmentary words, making them soundlike a sentence from a telegram. People can develop a speech disorder called”Wernicke aphasia” it occurs when there is damage to Wernicke’s area. Peoplecan still work with their speech, meaning they will only struggle with part ofspeech.
What comes out their mouth is, mostly an enumeration of meaninglesswords, in which incorrect words and mere sounds, take the place of properwords, not making any sense. Since they do not understand what they are sayingthemselves, they cannot get a grip on their speech, and they are not even awarethat they are making no sense. This is because speech itself is managed outsideof Wernicke’s area of the brain. There is a bridge called the “Insula” and itspurpose is to connect these two speech areas of the Wernicke and Broca. This isa hidden expanse of the cortex that lies within the great enfold of the brain, that’sknown as the Sylvian fissure, that divides the temporal and frontal lobes.Where there is damage to this surrounding area, many speech disorders occur.
For example, people cannot repeat what they have just heard when there issomething wrong with the connection of these two areas. This is because wordsheard (recorded in Wernicke’s area) can no longer reach Broca’s area, wherespeech is dealt with. Children who develop autism have affects in both areas ofWernicke and Broca.
children with autism show weaker activation in brainregions that process and recall sounds of words than controls do. Aneurodevelopmental condition like ASD interferes with language developmentbecause it alters the way the brain responds to environmental input. In thetypical developmental process. Early in the developmental process, according to(Bates, 1993; Friederici, 2005; Smith & Yu, 2008) a child with a typicallydeveloping brain can differentiate speech from non-speech, discriminate wordswithin a stream of connected speech, relate the words to objects and actions inthe environment, discriminate sentences within continuous discourse, relate themeaning of one word to another word. That being said having a developingWernicke area and Broca area is very important for children who are diagnosedwith autism, due to the fact they will struggle making complete sentences orhaving a full-on conversation.
Having therapy at a young age improves languageskills for the developing lobes of the brain. The Hippocampus and ASDTaking into consideration that people with autism suffer fromdifferent medical issues, some of which affect their brain, it has largely beenspeculated that the hippocampus is an underline key to behavior dysfunctions.According to the American Journal of Neuroradiology, MRI’s were acquiredthrough a study, from children with two different degrees of autism. While thethird category were children with no autism.
Their findings were that thehippocampal- shape in children with autism were related to the degree of intensityof the illness. The children with autism showed signs of alterations in boththe hippocampus and subiculum. Children with severe forms of autism appeared tohave more prominent deformations in the hippocampus. In the article from theAmerican Journal of Neuroradiology, adults with epilepsy shared similarities inMLT structure with the children who had autism. Although 38% of children withAutism Syndrome will develop a seizure disorder during their infancy or teenageyears, they are not related. A person can have seizures and not have autism.
Rojas et al. (2004) conducted a study to determine whetherthe parents of children with autism showed the same changes in structures. For the study, Rojas performed Magneticreasoning imagining (MRI) scans on 17 biological parents of children withautism, 15 adults with autism and 17 adults with no personal or family historywith autism. The results of this study showed that after all scans werecompared, it was noted that the parents of children with autism had asimilarity with the adults that have autism. The left hippocampus was larger inboth the autistic adults and the parents of autistic children. The left side ofthe amygdala was smaller in the same two groups compared to the group who haveno personal or family history of autism.
Cognitivefunction and Chemical Unbalance Gamma-aminobutyric acid (GABA) is a neurotransmitter that helpssend messages between the brain and the nervous system. GABA is made from insidethe brain cells. Glutamate plays a major role as they work together. One of themain function of GABA is to act as an inhibitory neurotransmitter to aid thebody, which helps and plays it major role because it blocks nerve impulses. Anothertransmitter is also playing a major role, Glutamate is also a neurotransmitter,and when it’s bound to the adjacent cells, it fires and sends the nerve impulses.Without GABA, the brain seems to be all over the place, nerve cells fire toooften, causing an unbalance in the body and brain. A lot of disorders whenhaving low levels of GABA will occurs like panic attacks, seizures, and conditionslike addiction, headaches, Parkinson’s syndrome, and cognitive impairment areall related to having decreasing levels of GABA in the brain (Atkins Robert, Dr. Atkins’ Vita-nutrient solution, Simon& Schuster).
Gamma-aminobutyric acid helps the transmission of nerveimpulses from neuron to neuron. The less GABA that’s in the body, the morenerve transmissions occur, this is what it feels on what having too much coffeedoes to the body. (Louzada PR, Lima AC, August 2004). This chemical play’s amajor role in individuals who have autism. In a study done by William Gaetz aprofessor of radiology at the University of Philadelphia showed that brainscans of children with autism have less GABA in brain regions related to soundprocessing and motor control. His study helps explain why many people withautism are hypersensitive to loud noises or have motor impairments. Histechnique used a vivo magnetic resonance spectroscopy (MRS), which measured theconcentrations of brain chemicals.
Therefore, he was able to see the brains ofchildren with autism, and saw they lacked enzymes that help produce GABA. Theyalso have less GABA in the motor cortex and auditory cortex, which wouldexplain the sound process that occur in their brain. His studies also foundthat these children have delayed brain responses to sounds, and abnormal brainwaves in the cortex. These cortical oscillations dependent on neurotransmittersof which GABA produces. (Gaetz W.
Et al. Neuroimaging 2013). People with autismhave trouble filtering irrelevant sensory information, which inhibition in thebrain plays a major role.
Gaetz suggests that having reduced GABA activity inthe brain produces autistic symptoms. MIT and Harvard Neuroscientist conducteda study regarding GABA. In this study, Harvard Neuroscientists explored anoptical task called a binocular rivalry. During the study, researchers showedeach of the participant one different image simultaneously per eye. Binocularrivalry requires brain inhibition and has been shown to be more difficult forpeople with autism. For the images to be processed in the brain, the brain mustswitch back and forth between input from the right and left eye. For theparticipants, it may appear like the two images are just attenuating in andout.
Input from each eye takes its turn when inhibiting. Caroline Robertsonfound that “non-autistic adults switched back and forth between the images ninetimes per minute, and one of the images fully suppressed the other about 70percent of the time”. Caroline Robertson also found that autistic adults would switchedback and forth, only half as often as non-autistic persons, and one of theimages that was fully suppressed and the other only about 50 percent of thetime. Once the study was finished the researchers then measured GABA activityusing a technique known as magnetic resonance spectroscopy. Caroline Robertsonstates that “non-autistic participants with higher levels of GABA correlatedwith a better ability to suppress the non-dominant image”. For majority of the participantsthat have autism, there wasn’t a relationship between their performance andtheir GABA levels. Caroline Robertson suggests that GABA is present in thebrain but does not perform its usual function in autistic individuals (CarolineRobertson 2015).
Drugs for Specific Types of Autism Autismaffects children in different varieties, although most of them do have the samesymptoms. Receiving treatment will be based on the type of autism. Behavioraltherapy is usually the first line for treatment, with pharmacological medicineadded to help patients function in their daily activities. Autism brakes down intothree categories; autistic disorder, Asperger’s syndrome, and pervasivedevelopmental disorder. The first category of autism is also known as classicalautism. According to (Autism Support ofWest Shore 2017), this spectrum disorder has some language delays, socialand communication challenges, and many see very unusual behaviors andinterests.
Some also included intellectual disabilities, which are also verypresent. Having this classical autism is the more severe of all they style ofautism.A major symptom of this type of autistic disorder is having problemsbeing touched, that includes hugs and affection by other people, haverestricted and repetitive behaviors, majority have sensory overloads, and mostlikely will have issues communication whether is verbal or physically. Allstyles of autism share the same symptoms and characteristics, classical autism isthe one with the most severe symptoms than most, and are the most common tohave.
The second type of autism is Asperger’s syndrome. One of the mildertypes of autism spectrum disorder. Common symptoms people experience is the sameas the other types of autism, only with Asperger’s they tend to be less mild.Usually, people with these behaviors that aren’t common and that may be weirdto others, and of course the most common with autism is having social challenges.Those symptoms are the most common and difficult for people living withAsperger’s. Difficulties like language and intellectual disability don’t reallyaffect those who bear with Asperger’s.
Pervasive development, also called “atypical autism.” These are mostlythe same characteristics for the other two types, but don’t include all them.Those living with Pervasive Developmental Disorder experience the mildersymptoms, or very few. Those with atypical autism only suffer from social and communicationchallenges. This is the highest-functioning of all three types, and it does notfit into any of the categories or types of autism.
Some of the same medicationsmay be taken for all three types of autism, depending on the severity of thesymptoms. Sertraline is a serotonin reuptake inhibitor, and it was shown toimprove separation anxiety in an 11-year-old girl having Asperger’s syndrome. (Hollander E, Soorya L, Chaplin W, et al. 2012). Two othertypes of medications for autism include risperidone and aripiprazole. Risperidoneis an antipsychotic medication, that helps by changing the effects of chemicalsin the brain.
Risperidone also helps schizophrenia in adults and children whoare at least 13 years old. It’s also used to treat symptoms of irritability in autisticchildren who are 5 to about 20 years of age. Aripiprazole is also anantipsychotic medication. It works by making new chemicals in the brain. Aripiprazoleis given to children 6 years or older who symptoms of autistic disorder thatinclude irritability, aggression, mood swings, temper tantrums, and self-injury(Bhardwaj A, Agarwal V, Sitholey P (2005). Discussion Childrenwith ASD develop differently, and not everyone will have the same symptoms; infact, some may not show any symptoms at all. Most children with autism canspeak clearly, while others may not be able to speak at all and may mumblewords.
These behaviors complicate diagnosis and treatment for those with ASD.Based on a diagnosis, this progress will affect treatment at differing rates.According to Dr.
Annabel Marsh (2007), “Children with ASD face more challengestransitioning to school, particularly with social interaction. Furtherdevelopment and implementation of specific school-based interventions is neededin order to assist children with autism to maximize their success in startingschool”. While not every child is born ready for school, Waddington and Reed(2009) showed that children with ASD are less ready for school on anemotional level rather than their peers. Children who do have ASD appear tohave more externalizing behaviors, than other children who don’t have ASD. Self-regulationdifficulties affect their school engagement and their relationships withteachers and peers.
School-based behavioral interventions on ASD, appear toimprove cognitive, language and daily living skills, but have less impact onsocialization and peer inclusion. Some therapies that help children with autismin school would be Applied Behavior Analysis, and Present study. In ABA-basedtherapies, (Lovaas, 1987) found that 47% of the children with ASD who receivedlong-term ABA therapy achieved levels of normal intellectual and educationalfunctioning in their classroom as compared to only 2% of those children withASD in a control group. Other studies have also found similar improvement ratesfor children in ABA-based therapies as compared to those who participate in acontrol groups (Scheinkopf & Siegel, 1998). The effectiveness of ABA seemsto get children on track if introduced at an early age of childhood.
DiagnosisItis important to have a child evaluated by professionals at a very young age andevaluated by someone specialized autism. Speech-language pathologists maydiagnose autism in only the aspects that concern in the language barrier. Professionalswould include most pediatricians, neurologists, occupational therapists,physical therapists, and developmental specialists. Speech-language pathologistdo play a key role because problems with social skills and communication areoften the first symptoms of autism, and most children would have the hardesttime speaking and saying pronunciation of words correctly.
There are a numberof tests and observational checklists available to evaluate children withdevelopmental problems. ConclusionAutismSpectrum Disorder is complicated to understand, there’s still much research tobe done to have a definitive answer on what causes Autism. It is difficult toidentify and recommend intervention and preventative practices for ASD.
Research shows that ASD develops from environmental and genetic factors. Someindividuals prefer therapies to help with their behavior, social and education,but to some medication is a good alternative to balance brain chemicals andhelp them on their everyday life. Having different therapies and medications ishelpful in allowing individuals with ASD to cope and thrive despite theirdiagnosis. Research on ASD continues to expand and scientist keep learningabout the disability, the more research the closer scientist are to finding acure to Autism.BibliographyUniversity of California, Berkeley, 4511 TolmanHall, Berkeley, CA, 94720, United States Behavioral Intervention Association,2354 Powell Street, Suite A, Emeryville, CA, 94608 United StatesHideo Matsuzaki, Keiko Iwata, Takayuki Manabe, Norio Mori Journalof Central Nervous System Disease First Published February 22, 2012 Marsh, A.
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