Running Head: Autism: Genetics and Gender 1

How genetics and gender may play a role in developing Autism

 Autism: Genetics and Gender 2

Abstract

Autism Spectrum Disorder (ASD) has effected countless children in the world and

research is imperative to finding out what causes the disorder. There seems to be a vast number

of males who acquire ASD, and this paper will analyze several studies that are being conducted

to determine if gender, genetics, cultural and/or environment play a role in the development of

the disorder.

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 Autism: Genetics and Gender 3

How Genetics and Gender may play a role in developing Autism

Autism Spectrum Disorder (ASD) effects 1 in every 68 births in the United States, and is

usually identified by the age of 3 years. ASD seems to be more prevalent in males than females,

with 1 in 54 boys being diagnosed (Harrop, Shire, Gulsrud, Chang, Ishijima, Lawton, & Kasari,

2014). Is there something in male DNA that makes them more susceptible to developing

Autism? Finding out whether genetic differences, gender, and/or ethnicity has an effect on

developing autism, maybe the key to finding out ways to treat or maybe even cease the

symptoms of the disorder as early as infancy, pre conception, or on the cellular level.

The DSM-IV defined Autism as four separate disorders: autistic disorder, Aspergers

disorder, childhood disintegrative disorder, or pervasive developmental disorder not otherwise

specified (DSM-5, 2013).

Autistic Disorder- Most familiar term, refers to problems with communication,

social interactions, and imaginative play in children under three years old.

Aspergers Syndrome- children will display the same social problems as AD, but

their language and learning abilities are not affected.

Childhood Disintegrative Disorder- Children develop normally until about the age

of two, then they will lose some or all of their social and communication skills.

Pervasive Developmental Disorder (Atypical Autism) - Children who display

some autistic behaviors, but do not fit into other disorders.

The DSM-5 revised Autism from the previous version, to Autism Spectrum Disorder

(ASD). The revised diagnosis represents a more accurate and medically and scientifically useful
 Autism: Genetics and Gender 4

way of diagnosing individuals with autism-related disorders. The signs of ASD will typically

appear during early childhood and affects the childs ability to communicate, and interact with

others. This spectrum condition affects individuals differently and to varying degrees. Some of

the behaviors associated with autism include, delayed learning of language; difficulty making

eye contact or holding a conversation; difficulty with executive functioning, which relates to

reasoning and planning; narrow, intense interests; poor motor skills and sensory sensitivities

(DSM-5, 2013). A person on the spectrum might display just a few of these behaviors, or many

others. The diagnosis of autism spectrum disorder is applied based on analysis of all behaviors

and their severity.

As of now there is no known single cause of developing autism, early

diagnosis/intervention, increased awareness, and access to appropriate supports can lead to

significantly improved outcomes.

The prevalence of Autism Spectrum Disorder has been increasing from year to year. The

2007 National Survey of Childrens Health (NSCH) was twice the 2003 NSCH estimate for

autism (Schieve, Rice, Yeargin-Allsopp, Boyle, Kogan, Drews, & Devine, 2012). Some research

attributes these finding to three underlying explanations as potentially contributing to the

observed prevalence. First is a change in how prevalence in measured (i.e. surveys), secondly,

the changes in ASD education and awareness, and thirdly, genetic susceptibility.

Over the years there have been studies to determine if there were differences between

racial groups and the prevalence of ASD. A study conducted in 2009-2010 (National Survey of

Children with Special Health Care Needs), compared non-Hispanic-white, non-Hispanic-black,

Hispanic-any-race, English (Hispanic-English); and Hispanic-any-race, other language

(Hispanic-Other). The findings demonstrated that NHW children have higher reported ASD
 Autism: Genetics and Gender 5

prevalence estimates than NHB and Hispanic-Other children, but different variables may

contribute to these findings. It is proposed that the parents of NHW are more inclined to over

report milder symptoms.

Autism spectrum disorder (ASD) is a collective term for pervasive neurodevelopment

conditions characterized by atypical development in socialization, communication and behavior

(American Psychiatric Association, 2000). Research has been focusing on if genomes and

genetics determine the development of ASD. Kanner (1943) first described autism as a disorder

of unusual social and communication development as well as of restrictive and repetitive

behaviors that begins early in life. ASD is heritable, 60%-90% of identical twins share autistic

traits, while fraternal twins only share 0%-10%. These statistics may reveal that ASD is

determined by genetics. Environmental factors may also play a part in determining whether ASD

will develop in a particular individual (Johnson, Giarelli, Lewis, & Rice, 2013).

Environmental epigenetic studies have determined that chemicals can affect genetic

activity and also be associated with several syndromes such as Fragile X syndrome, which is

caused by an increased number of CGG trinucleotide repeats within the FMR1, a gene that

affects a chromosome. Rett Syndrome is a degenerative condition that affects females more than

males. It is caused by a mutation in the X-linked gene MECP2. Tuberous sclerosis is a disorder

that results from a loss of function mutation in either the TSC1 gene on chromosome 9q34 or the

TSC2 gene on chromosome (Johnson, Giarelli, Lewis, & Rice, 2013.

Males seem to dominate in autism spectrum disorders (ASD). It is reported that 4:1 boys

are diagnosed with ASD and even higher for Asperger Syndrome at 8:1. The dominance of males

with ASD is debatable with some professionals stating that girls require a greater symptom
 Autism: Genetics and Gender 6

threshold, as well as behavioral or intellectual challenges. It has also been studied that girls are

rarely studied independently from boys which leads to later detection and diagnosis.

The importance of early detection of Autism Spectrum Disorder has been tested and

shows that early detection is beneficial to the child and parents, and that this prepares them to

understand the impact of autism on their childs development, and also how to obtain support. In

a study, the Risk of Autism Clinic (TRAC), which utilizes the Social Attention and

Communication Study (SACS), was used to detect autistic disorder, Aspergers disorder,

Pervasive developmental disorder not otherwise specified, and autism spectrum disorder in

children younger than 2 years old. This study proved that TRAC is a successful model for

diagnosing toddlers, on re-evaluation of these children 1-2 years later showed diagnosis stability

of 80-90 % ( Davis, Clifton & Papadopoulos, 2015).

Treatments for autism vary, some of the treatments can lead to the control of symptoms

which in turn provides the individual with a better quality of life by being self-sufficient and

independent. Transcranial magnetic stimulation which has been used for schizophrenia and

depression has also proved useful in the treatment of ASD. The neocortex which is the outer part

of the brain which houses a group of cells is called minicolumns. Minicolumns are the smallest

unit of cells that are capable of processing information. In people with autism the minicolumns

are smaller and more numerous than normal, and when they are so small the stimuli

overflows from its specific minicolumns to adjacent ones and this overflow causes an amplifier

effect that may explain the hypersensitivity some autistic patients experience (Casanova,

Sokhadze, Opris, Wang, & Li, 2014) . Scientist theorize that by controlling the magnetic field in

the cortex could reinforce the insulation around the minicolumns, and there for lessen the

symptom of hypersensitivity.
 Autism: Genetics and Gender 7

Speech therapy is most commonly used and ranked the highest with parents because of

the deficits in communication and related social skills children with ASD display. The use of

occupational therapy is also successful due to sensory issues associated with ASD. Video

modeling has also been proven to be an effective treatment in teaching social skills such as

conversational speech, imaginative play, and perspective-taking skills. These treatments can

provide lasting skills that can take them into adulthood.

Case Study

Anderson is a 3 year old who has ASD. He was a full term baby and he nor his mother

had any complications at birth. As a baby and a toddler Andersons motor development was

normal, meeting major milestones of sitting, standing, and walking. At the age of three he

developed awkward motor skills and his communication development was delayed. Anderson

would use nonverbal means to communicate. For example he would grab his mothers hand and

direct it towards or on the object he desired. A diagnosis of ASD was determined by an

assessment using the Communication Symbolic and Behavior Scales Development Profile

(CSBS DP). Andersons team and family developed communication goals that included using a

consistent communication system for a variety of communicative functions, and joint attention

(Diehl, Wegner, & Rubin, 2010). Joint attention is a very important to the development of

cognitive, social, and verbal abilities.

The use of incidental teaching methods were used at home and preschool, along with

holding hands while singing helped Anderson socially. By the end of the year Anderson was

responding to requests verbally and showed a range of emotion such as excitement and joy when

involved in joint activity routines. With the use of these tools Anderson has continued to flourish

and progress.
 Autism: Genetics and Gender 8

Autism Spectrum Disorder has come a long way from its initial inclusion in the DSM. As

the different aspects of the disorder have emerged, so has its categorization. Studies conducted

on the prevalence of ASD in males and females arent conclusive or solidify it being solely a

male disorder. What is apparent is that genetics is factor in developing autism spectrum disorder.

Further research in genetics can possibly halt the development of ASD, until then early detection

in addition to successful treatments, such as video modeling, social stories, parental knowledge

can provide an individual with the tools they need to live a productive and normal life.
 Autism: Genetics and Gender 9

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