Autism Spectrum Disorder

Introduction:

According to APA, Autism spectrum disorder (ASD) refers any one of a group of disorders
with an onset typically occurring during the preschool years and characterized by difficulties
with social communication and social interaction along with restricted and repetitive patterns
in behaviors, interests, and activities.

Today, autism appears as a severe form of disorder, those are referred to as Pervasive
Developmental Disorder. It typically appears during the first 3 years of life that affect the
development of brain.

Historical Overview:

The term autism first was used by psychiatrist Eugen Bleuler in 1908. He used it to describe a
schizophrenic patient who had withdrawn into his own world. The Greek word ''autós'' meant
self and the word “autism” was used by Bleuler to mean morbid self-admiration and
withdrawal within self.

The pioneers in research into autism were Hans Asperger and Leo Kanner. They were
working separately in the 1940’s. Asperger described very able children while Kanner
described children who were severely affected. Their views remained useful for physicians
for the next three decades.

 Eugen Bleuler coined the word "autism" in 1908 among severely withdrawn
schizophrenic patients.

 In 1943 American child psychiatrist Leo Kanner studied 11 children. The children had
features of difficulties in social interactions, difficulty in adapting to changes in
routines, good memory, sensitivity to stimuli (especially sound), resistance and
allergies to food, good intellectual potential, echolalia or propensity to repeat words of
the speaker and difficulties in spontaneous activity.
 In 1944 Hans Asperger, working separately, studied a group of children. His children
also resembled Kanner’s descriptions. The children he studied, however, did not have
echolalia as a linguistic problem but spoke like grownups. He also mentioned that
many of the children were clumsy and different from normal children in terms of fine
motor skills.

 Next Bruno Bettelheim studied the effect of three therapy sessions with children who
he called autistic. He claimed that the problem in the children was due to coldness of
their mothers. He separated the children from their parents. Kanner and Bettelheim
both worked towards making hypothesis that showed autistic children had frigid
mothers

 Bernard Rimland was a psychologist and parent of a child with autism. He disagreed
with Bettelheim. He did not agree that the cause of his son’s autism was due to either
his or his wife’s parenting skills. In 1964, Bernard Rimland published, Infantile
Autism: The Syndrome and its Implications for a Neural Theory of Behavior.

 Autism came to be better known in the 1970’s. The Erica Foundation started
education and therapy for psychotic children in the beginning of the 80s. Many
parents still confused autism with mental retardation and psychosis.

 It was in 1980’s that Asperger’s work was translated to English and published and
came into knowledge.

 It was in the 1980’s that research on autism gained momentum. It was increasingly
believed that parenting had no role in causation of autism and there were neurological
disturbances and other genetic ailments like tuberous sclerosis, metabolic disturbances
like PKU or chromosomal abnormalities like fragile X syndrome.

 Lorna Wing, along with Christopher Gillberg at BNK (Children's Neuro-Psychiatric

Clinic) in Sweden in the 1980’s found the Wing’s triad of disturbed mutual contact,
disturbed mutual communication and limited imagination. In the 1990’s they added
another factor making it a square. The factor was limited planning ability.
Prevalence:

ASD has been the focus of debate in recent years, largely as a result of multinational reports
of increase in its prevalence. Studies reporting on the prevalence of ASD have reported the
prevalence estimates ranging from 0.07% to 1.8%.

4 times more prevalent in boys and it has no racial, social and ethnic boundaries.

Etiology:

 Genetic:
More in monozygotic twins rather that dizygotic twins. Siblings of autistic children
shows a prevalence of autistic disorder of 2%. About 80% of ASD cases are linked to
inherited genetic mutations. In most cases, these mutations occur in a single gene.

 Perinatal factors:
There’s no evidence that children can develop autism after early fetal development as
a result of exposure to vaccines or postnatal toxins. Low birth weight is also a factor
of developing Autism. Other prenatal factors includes:
antibodies that interfere with the baby’s brain development
exposure to pesticides during pregnancy
poor nutrition during pregnancy
  Parenting influence/ social factors:
Studies have shown that an authoritative parenting style can positively impact autistic
children. However, it is important to find the right balance. Being overly strict and
controlling can cause autistic children to feel overwhelmed.

Symptoms:

According to the Diagnostic and Statistical Manual of Mental Disorders (DSM-5), doctors
categorize autism by assigning level 1, 2, or 3 to two areas of functioning: social
communication and restricted, repetitive behaviors.

Level 1: Requiring support

A person who meets the criteria for level 1 may face social challenges that require some
support.

They may find it difficult to:

  initiate conversations with others

 respond as others would expect

 maintain interest in the conversation

As a result, it can be hard to make friends, especially without the right support.

The person may also:

 feel a need to follow rigid behavioral patterns

 feel uncomfortable with changing situations, such as a new environment

 need help with organization and planning

Level 2: Requiring substantial support

People who meet the level 2 criteria need more support than those with level 1 autism. Social
challenges can make holding a conversation very difficult.

Even with support, the person may find it hard to communicate coherently, and they are more
likely to respond in ways that neurotypical people consider surprising or inappropriate.

The person may:

 speak in short sentences

 only discuss very specific topics

 have difficulty understanding or using nonverbal communication, including facial

expression

For example, they may face away from the person with whom they are communicating.

People with level 2 autism may also find daily functioning difficult due to the challenges of
coping with change. Facing change might cause them to experience significant distress.

Level 3: Requiring very substantial support

Among autistic people, those with level 3 autism will need the most support. They will find it
very difficult to use or understand verbal and nonverbal communication.

The person may:

 avoid or limit interaction with others

 find it difficult to join in imaginative play with peers

 show limited interest in friends

 have difficulty forming friendships

They may:

 face extreme difficulty in changing their daily activities or routine

 follow repetitive behavioral patterns, such as flipping objects, to the point that it
affects their ability to function

 experience a high level of distress if a situation requires them to alter their focus or
task

Autism can have both social and behavioral effects on an individual.

In social situations, they may find the following difficult:

 initiating or maintaining a conversation

 responding appropriately to others

 discussing their interests in detail

 maintaining eye contact

 using facial expressions that match the context of communication

 understanding another person’s perspective

The person’s behavior may include:

  performing repetitive actions, such as rocking from side to side or saying the same
thing over and over again

 distancing themselves from others

 having an intense interest in a specific topic

 developing a high level of skill in certain areas, such as mathematics or art

 having difficulty coping with changes to their routine or environment

 becoming preoccupied with specific parts of an object, such as the wheels on a car

 being more or less sensitive to sensory stimulation — such as loud noises —

compared with neurotypical people

 having problems sleeping

In some cases, autism may affect a person’s balance, coordination, and motor skills.

DSM 5 changes:

Using DSM-IV, patients could be diagnosed with four separate disorders: autistic disorder,
Asperger’s disorder, childhood disintegrative disorder, or the catch-all diagnosis of pervasive
developmental disorder not otherwise specified. Researchers found that these separate
diagnoses were not consistently applied across different clinics and treatment centers. Anyone
diagnosed with one of the four pervasive developmental disorders (PDD) from DSM-IV
should still meet the criteria for ASD in DSM-5 or another, more accurate DSM-5 diagnosis.
While DSM does not outline recommended treatment and services for mental disorders,
determining an accurate diagnosis is a first step for a clinician in defining a treatment plan for
a patient.

Under the DSM-5 criteria, individuals with ASD must show symptoms from early childhood,
even if those symptoms are not recognized until later. This criteria change encourages earlier
diagnosis of ASD but also allows people whose symptoms may not be fully recognized until
social demands exceed their capacity to receive the diagnosis. It is an important change from
DSM-IV criteria, which was geared toward identifying school-aged children with autism-
related disorders, but not as useful in diagnosing younger children. DSM-5 criteria identified
91 percent of children with clinical DSM-IV PDD diagnoses, suggesting that most children
with DSM-IV PDD diagnoses will retain their diagnosis of ASD using the new criteria.

Types of pervasive developmental disorder

The American Psychiatric Association’s Diagnostic and Statistical Manual of Mental

Disorders V (DSM-5) replaced the DSM-4 in 2013 and altered the diagnostic definition of
autism.

The DSM-4 listed five pervasive developmental disorders:

 autistic disorder

 Asperger’s disorder

 Rett’s disorder

 childhood disintegrative disorder

 PDD-NOS

The DSM-5 replaced autistic disorder, Asperger’s disorder, and PDD-NOS with the term
autism spectrum disorder (ASD). However, people still commonly use the terms Asperger’s
and PDD-NOS.

 Autistic disorder:
This is what most people think of when they hear the word "autism." It affects social
interactions, communication, and play in children younger than 3 years.
 Asperger disorder:
Children with Asperger syndrome tend to score in the average or above-average range
on intelligence tests. But they may have challenges with social skills and show a
narrow scope of interests.
 Pervasive Developmental disorder Not specified (PDD-NOS):
PDD-NOS usually first appears in young children also known as Atypical
Autism, often before the age of 3. Signs of PDD-NOS may include:
 difficulty understanding and using language
 difficulty relating to people, events, or objects
 playing unusually with toys or objects
 finding changes to routine or familiarity difficult
 repetitive body movements or patterns of behavior
 limited social skills
 responding unusually to sensory input, such as loud noises or bright lights
Speech and behavior may vary between each child. Some may have limited speech,
and others may not speak at all. Others may have language development similar to
same-age peers.
 Rett’s disorder:
Rett syndrome is a rare genetic neurological and developmental disorder that affects
the way the brain develops. This disorder causes a progressive loss of motor skills and
language. Rett syndrome primarily affects females.
Most babies with Rett syndrome seem to develop as expected for the first six months
of life. These babies then lose skills they previously had — such as the ability to
crawl, walk, communicate or use their hands.
Over time, children with Rett syndrome have increasing problems with the use of
muscles that control movement, coordination and communication. Rett syndrome can
also cause seizures and intellectual disabilities. Unusual hand movements, such as
repetitive rubbing or clapping, replace purposeful hand use.
Although there's no cure for Rett syndrome, potential treatments are being studied.
Current treatment focuses on improving movement and communication, treating
seizures, and providing care and support for children and adults with Rett syndrome
and their families.
 Childhood disintegrative disorder:
Children with this disorder have typical development for at least 2 years.
Manifestations of the disease include loss of speech, incontinence, communication
and social interaction problems, stereotypical autistic behaviors and dementia.
Theories:

 The Mirror Neuron Hypothesis

Mirror neurons help us understand and predict the actions of others. These brain cells are
activated by actions we take and by watching others take those same actions. Mirror neurons
are involved in imitation and may help translate other’s actions so that we understand their
intentions.

The mirror neuron hypothesis of autism proposes that social challenges are due to differences
in mirror neuron activity. Research suggests that mirror neuron activity may be diminished in
those on the spectrum. They therefore don’t have the same ability to predict and understand
the “why” behind others’ behaviors.

 The Intense World Hypothesis

The intense world theory is that people with autism have increased brain activity, which
makes it hard to selectively pay attention to certain things and not others. They may
experience the world as more intense or overwhelming than neurotypical people. For
example, at a party it may be difficult for a neurotypical individual to focus on the one person
they’re speaking to and ignore everyone else. For someone with autism, the sound of an air-
conditioner could feel grating or a sweater could feel itchy.

This idea would mean that two core features of autism—social challenges and sensory
sensitivity—may both be rooted in overactive brain responses. Research suggests that the
prefrontal cortex and the amygdala may be more active in people with autism than
neurotypical people.

 The Social Motivation Hypothesis

The social motivation hypothesis proposes that autism may be due to differences in the
brain’s reward system. Neurotypical individuals find social interactions, such as eye contact
and conversation, inherently valuable. Autistic individuals find social interactions difficult or
uninteresting. Some research supports this hypothesis: Children with autism show less
reward-related brain activity when anticipating social information than do neurotypical
children.

The theory also helps explain why people with autism have restricted interests, as research
suggests that narrow, deep focus and expertise, as well as non-social stimuli, are more
rewarding to those with ASD than are social stimuli. Autism may emerge from the brain’s
reward circuitry developing differently, but future research will need to investigate further.

 The Extreme Male Brain

Autism has historically been diagnosed four times more often in men than in women. There
are also certain cognitive domains that vary by sex: Women tend to excel at empathizing and
men tend to excel at systemizing. These two principles form the foundation of psychologist
Simon Baron-Cohen’s theory that autism represents an “extreme” form of the male brain.

Research from Baron-Cohen’s team suggests that people with autism may be exposed to
more testosterone in utero, which could affect brain development. Other research, however,
calls that hypothesis into question.

 The Diametric Mind

The diametric model of the mind and mental illness holds that autism and psychosis exist on
opposite ends of a spectrum. Autism leads to an understanding of the world in literal,
mechanistic terms, and a limited ability to understand others’ intentions and perspectives.
Psychosis, in contrast, results in the “overinterpretation” of other’s intentions, misreading
minds to such a degree that paranoia and delusion result.

 The Theory of Mind theory

The 'Theory of Mind' (ToM) model suggests that people with autism spectrum disorder
(ASD) have a profound difficulty understanding the minds of other people ‐ their emotions,
feelings, beliefs, and thoughts. As an explanation for some of the characteristic social and
communication behaviours of people with ASD, this model has had a significant influence on
research and practice. It implies that successful interventions to teach ToM could, in turn,
have far‐reaching effects on behaviours and outcome.

Assessment :

Tests can include the Autism Diagnostic Interview-Revised (ADI-R), used in children age 2
or older. The Social Communication Questionnaire (SCQ) and Screening Tool for Autism in
Toddlers & Young Children (STAT) are other ways of assessing child development,
communication, and social skills.

Tests for adults can include self-screening options like the Autism Spectrum Quotient (AQ-
10) but professional assessments, such as the ADOS-2, need to be completed by a healthcare
provider for a diagnosis.

Possible complications and comorbidities:

According to statistics:

 At least 30% of patients with ASD are also diagnosed with epilepsy. The ASD brain is
more prone to seizures owing to a lower seizure threshold believed to result from a
combination of environmental and genetic factors. Although no single seizure type is
more prevalent in ASD, these often co-present with cognitive impairments

 Intellectual disabilities are the most common comorbidity associated with ASD,
affecting 80% of ASD patients

 Sleep disorders, particularly insomnia, are recorded in 44-83% of patients with ASD,
typically toddlers. This is believed to result from a melatonin deficiency in the ASD
brain

Other co-occurring disorders include gastrointestinal disorders, anxiety, attention deficit

hyperactivity disorder, obsessive compulsive disorder, and mood disorders.

 Fragile syndrome:
 Fragile X syndrome is a genetic condition that causes a range of developmental
problems including learning disabilities and cognitive impairment. Usually, males are
more severely affected by this disorder than females. Affected individuals usually
have delayed development of speech and language by age 2.
Symptoms include delays in talking, anxiety and hyperactive behavior. Some people
have seizures. Physical features might include large ears, a long face, a prominent jaw
and forehead and flat feet.
Fragile X syndrome (FXS) is considered the most common known genetic cause of
Autism Spectrum Disorder (ASD), meaning a significant portion of individuals
diagnosed with ASD also have a genetic mutation leading to FXS; this often manifests
in behavioral characteristics overlapping with ASD symptoms like social
communication difficulties, repetitive behaviors, and anxiety, making FXS a
significant factor in understanding the genetic basis of autism.
Studies estimate that around 50% of individuals with Fragile X syndrome also meet
criteria for an ASD diagnosis, with males being more severely affected than females
due to the X-linked nature of the gene mutation.

 Mental retardation:
Mental retardation is a term that is no longer used to describe the condition now
known as intellectual disability (ID). ID is a neurodevelopmental disorder that affects
a person's intellectual and adaptive functioning, and is typically first apparent during
childhood.
Autism and intellectual disability are often considered comorbid conditions, meaning
they can occur together in the same individual, with studies showing a significant
percentage of people diagnosed with autism also having intellectual disability, with
estimates ranging around 30% of the autistic population exhibiting this co-
occurrence; this means that a substantial portion of individuals on the autism spectrum
also have an intellectual disability diagnosis.

 Tuberous sclerosis:
Tuberous sclerosis complex is a genetic disorder characterized by the growth of
numerous noncancerous (benign) tumors in many parts of the body. These tumors can
occur in the brain, kidneys, heart, skin, and other organs, in some cases leading to
 significant health problems. Tuberous sclerosis complex also causes developmental
problems, and the signs and symptoms of the condition vary from person to person.
Tuberous sclerosis complex often affects the brain, with some
affected individuals having benign growths in the outer surface of the brain (cerebral
cortex) known as cortical tubers. Individuals with tuberous sclerosis complex often
develop a pattern of behaviors called TSC-associated neuropsychiatric disorders
(TAND). These disorders include hyperactivity, aggression, psychiatric conditions,
intellectual disability, and problems with communication and social interaction
(autism spectrum disorder)

 Meconium Aspiration Syndrome:

Meconium aspiration syndrome (MAS) is a condition that occurs when a newborn
breathes in a combination of meconium and amniotic fluid into their lungs around the
time of birth. Meconium is the first stool of a newborn. MAS is a leading cause of
death and severe illness in newborns, affecting about 5–10% of births.
MAS can occur when a fetus is stressed during labor, especially
if the baby is past its due date. Stress can be caused by:
 A long or difficult labor
 Health issues in the mother, such as hypertension or diabetes
 An infection
 Problems with the umbilical cord or placenta
research suggests a possible link between exposure to
meconium, particularly through MAS, and an increased risk of developing autism
spectrum disorder (ASD), although the exact mechanism is not fully
understood; studies indicate that the association may be stronger with meconium-
stained amniotic fluid (a milder form of exposure) compared to full-blown MAS
itself.

 Phenylketonuria(PKD):
Phenylketonuria, often called PKU, is caused by phenylalanine hydroxylase (PAH)
deficiency. It is an inherited disorder that can cause intellectual and developmental
disabilities (IDDs) if not treated. In PKU, the body can’t process a portion of a protein
called phenylalanine, which is in all foods containing protein. High levels of
phenylalanine can cause brain damage.
 Individuals with untreated PKU may exhibit autistic behaviors
or be diagnosed with autism, particularly if the condition is not detected and managed
early in life; this is because untreated PKU can lead to significant brain damage due to
a buildup of phenylalanine, affecting neurodevelopment and potentially contributing
to autistic symptoms.

 Bipolar disorder:
No evidence indicates bipolar disorder causes autism or autism causes bipolar
disorder. Recent researches does suggest these two conditions may share genetic
expression patterns, and found genetic variants that can increase the chances of
developing one or the other.
Genetics may account for an overlap of symptoms and may also help explain why you
may be more likely to experience bipolar disorder if you’ve already been diagnosed
with autism.
In a study on Asperger’s syndrome, a condition now included under the scope of
autism spectrum disorders (ASDs), researchers found as many as 27% of autistic
children showed symptoms of bipolar disorder and also suggested autistic people
were 9.34 times more likely than neurotypical people to receive a clinical diagnosis of
bipolar disorder.
More recent studies continue to support this correlation but indicate the actual number
of dual diagnoses may be either higher or lower.
In 2013, a large, family-based study found as many as 30% of people living with
bipolar disorder also met the criteria for an ASD diagnosis. The average onset of
bipolar disorder was also noted as significantly earlier when co-occurring with ASD.
A 2016 study, however, found the co-occurrence rate was closer to 8%, also noting
the onset of bipolar disorder was earlier among autistic people.
That same study found co-occurring ASD and bipolar disorder more frequently
included symptoms of:
 racing thoughts
 distractibility
 depressed mood
 social withdrawal
 low reactivity of mood states
Brain structure:

Autism is a neurodevelopmental condition. Although it is diagnosed based on the presence of

two core behaviors — restricted interests and repetitive behaviors, as well as difficulties with
social interactions and communication — those traits are thought to arise because of
alterations in how different parts of the brain form and connect to one another.

Studies that make use of a brain-scanning technique called magnetic resonance imaging
(MRI) have highlighted a few brain regions that are structurally distinct in people with
autism.

Children and adolescents with autism often have an enlarged hippocampus, the area of the
brain responsible for forming and storing memories, several studies suggest, but it is unclear
if that difference persists into adolescence and adulthood

The size of the amygdala also seems to differ between people with and without autism,
although researchers from different labs have turned up conflicting results. Some find that
people with autism have smaller amygdalae than people without autism, or that their
amygdalae are only smaller if they also have anxiety. Others have found that autistic children
have enlarged amygdalae early in development and that the difference levels off over time.

Autistic people have decreased amounts of brain tissue in parts of the cerebellum, the brain
structure at the base of the skull, according to a meta-analysis of 17 imaging studies.
Scientists long thought the cerebellum mostly coordinates movements, but they now
understand it plays a role in cognition and social interaction as well.

On a more global level, the cortex — the brain’s outer layer — seems to have a different
pattern of thickness in people with and without autism. This difference tracks with alterations
to a single type of neuron during development, a 2020 study suggests.

Neurotransmitter:
neurotransmitter system dysfunction thought to be the cause of Autism Spectrum Disorder
(ASD), by affecting neuronal cell migration, differentiation and synaptogenesis and
eventually developmental processes of the brain. In pathophysiology of ASD many
neurotransmitter systems has been investigated and dysfunction of these systems has been
shown to be responsible. In the literature, neurotransmitters that are most commonly
associated with the pathogenesis of ASD are, GABAergic, glutamatergic and serotonergic
systems.

Glutamate is an excitatory neurotransmitter in the brain that regulates cognitive functions like
memory and learning, which are often impaired in ASD. Evidence from genetics,
neuroimaging, and animal studies suggests that glutamate metabolism is altered in ASD.

Gamma-aminobutyric acid (GABA) is another abundant neurotransmitter in

ASD. GABAergic transmission changes from depolarization to hyperpolarization in some
ASD cases.

Serotonin in the gut may be a critical modulator of the gut-brain links important in ASD.

EEG study:

EEG has been the primary measure used to capture and characterize epileptiform and
abnormal paroxysmal activity through the detection of focal spikes, which occur with
increased frequency in ASD . Resting EEG studies have shown that 20% of individuals with
ASD show epileptiform discharges at rest, typically without the presence of clinical seizures.
Higher rates of epileptiform activity have also been reported in sleep studies; for example,
Chez, et al. reported that 61% of individuals with ASD and no clinical history of seizures
displayed epileptiform abnormalities.

Compared with MRI, EEG can be used across a wider range of age groups and
developmental abilities to study brain physiology, has a higher relative tolerance for
movement, has higher temporal resolution, is more clinically available, and can be used to
collect repeated measurements because (compared with positron emission tomography) it is
non-invasive. Resting-state approaches do not require subjects to make a response.

resting-state EEG in healthy individuals shows increased alpha power and coherence in
individuals with ASD , as well as reduced power in low-frequency bands (delta, theta) in
adults relative to children. These findings reflect maturation of long-range cortico-cortical
connections into adulthood.

Fnirs Study:

A recent study in 2022 by conti et al., uses fnirs ( allows performing in vivo a continuous and
non-invasive monitoring of oxygenation levels of chromophores like hemoglobin to the
transparency of biological tissues -including the human brain- to the light in the near-infrared
spectrum that uses blood-oxygen-level-dependent (BOLD) signal detected by fNIRS provides
a direct measure of modifications in the brain blood flow, which are coupled to neuronal
activity by the complex process known as “neurovascular coupling”) noted that hemispheric
asymmetry in ASD individuals are still very limited and evidence reported are quite
inconsistent.

Key findings of the study are listed below:

 Distinct Connectivity Patterns:

fNIRS revealed atypical neural connectivity in individuals with ASD, particularly in
the prefrontal cortex. This region, crucial for executive functions and social cognition,
showed disrupted patterns of activation compared to neurotypical controls. These
differences underline the potential of fNIRS in identifying neurodevelopmental
abnormalities characteristic of ASD.
 Dynamic Insights:
The use of adaptive graph-based models enabled the analysis of both spatial (location-
specific brain activity) and temporal (time-based changes) data. This approach
allowed for a nuanced understanding of how brain networks in ASD dynamically
interact, offering a more detailed perspective on functional connectivity compared to
static methods.

FMRI study:

A recent study by Wang et al. (2013) found that Functional MRI (fMRI) studies have reported
abnormalities in individuals with ASD when performing various tasks involving language
comprehension, working memory, face recognition, and eye movements. Compared with
typically developing subjects, individuals with ASD usually express a diffuse network pattern
with diminished activity in task-related regions and increased activity in task-unrelated
regions. When there is no task involved, individuals with ASD show functional
underconnectivity in anterior-posterior connections and reduced connectivity involving the
medial prefrontal cortex and the left angular gyrus. Moreover, a lack of deactivation in task-
related regions during rest has also been reported in individuals with ASD. Although post-
mortem and structural MRI studies of ASD have provided promising insights, abnormalities
often fail to provide a direct link to the clinical symptomatology of the disorder, with few
exceptions, a challenge for which neurophysiological studies offer advantages.

Treatment

 Psychotherapy:
 Applied behavioral analysis: Involves systematic study of the child's
functional challenges, which is used to create a structured behavioral plan for
improving their adaptive skills and decreasing inappropriate behavior
 Social skills training: Done in group or individual settings, this intervention
helps children with autism improve their ability to navigate social situations
 Speech & language therapy: Can improve the child's speech patterns and
understanding of language
 Occupational therapy: Can address adaptive skills deficits with activities of
daily living, as well as problems with handwriting
 Parent management training: Parents learn effective ways of responding to
problematic behavior and encouraging appropriate behavior in their child.
Parent support groups help parents cope with the stressors of raising a child
with autism
 Special education services: Are provided by schools under an Individual
Education Plan and can include a range of services
and accommodations for social communication deficits, restricted
interests and repetitive behaviors. This can include special classes for very
young children to address language, social skills and other needs.
 Treating co-occurring conditions: Children with autism are more likely to
experience insomnia, attention-deficit/hyperactivity disorder (ADHD),
intellectual disability, anxiety, and depression than peers without autism.
These conditional also need to be addressed. The impact of these conditions
can be reduced with the proper services, which can include any of the above,
 as well as psychotherapy and/or medication. Treating these conditions
typically involves coordination with a pediatrician or primary care clinician.
 Psychopharmacology:
A child psychiatrist can evaluate for other mental health conditions and prescribe
medication if appropriate. For example, autism-related irritability that does not
respond to behavioral interventions can be reduced by medications such as
aripiprazole and risperidone.
 Neurological treatment:
 Neurofeedback: A non invasive drug free technique that helps autistic
patients to regulate their brain activity in a certain way to improve focus,
attention and emotional regulation by providing real time feedback session.
 Repetitive transcranial magnetic stimulation (R-tms): it is a non- invasive
technique that uses repetitive magnetic fields placed over the scalp to
stimulate nerve cells in the brain to improve symptoms. It's thought to
activate regions of the brain that have decreased activity during ASD. This
treatment that can improve social cognition, emotion, empathy, memory,
speech, and action planning.
 Functional neurology: It a holistic, non-invasive technique to treat
neurological disorders. It is based on the theory of neuroplasticity which
means that nerve cells can repair and form new connections. This technique
target specific areas of nervous system to rehabilitate nerve cells and improve
brain functions. In ASD, this technique helps to improve cognition,
functionality and overall wellbeing. This technique includes visual
rehabilitation (focusing on the brain to retain the visual information processing
through specialised exercises and techniques), vestibular rehabilitation
(physical therapy that helps to reduce or eliminate balance issues) and
proprioceptive rehabilitation (improving subconscious and automatic process
of allowing body’s position and movement through targeted exercises and
sensory stimulation).
 Alternative treatment:
The three levels do not entirely encompass the traits and lived experiences of all
autistic people, and the DSM-5 offers little specificity regarding the types of support
that individuals need or situations when support is needed. For example:
  Some autistic people need support that depends on the setting. They may need
a classroom aide at school but no support at home, or they do well at school
but struggle in social situations.
 The level a person is assigned when they're first diagnosed can shift as they
develop and refine their social skill
 Mental health challenges like anxiety, depression, trauma, or burnout can
change over time

Recent researches:

A recent study, partially funded by the National Institute of Mental Health (NIMH) and
published in Science, has uncovered a link between rare structural variants inherited from
fathers in noncoding regions of genes and the development of autism spectrum disorder
(ASD). This research adds to the expanding body of knowledge about genetic factors
contributing to ASD.

“Gene sequences represent only two percent of the genome.” said Jonathan Sebat, Ph.D., of
University of California San Diego School of Medicine (UCSD) and the Beyster Center for
Genomics of Psychiatric Diseases. “The next challenge is to identify ASD risk variants
affecting genetic regulatory elements. Examining these elements will help us understand the
genetic components that contribute to the development of ASD, and symptoms seen in people
with ASD.”

The researchers examined the contribution of structural variants in noncoding regions of

DNA called cis-regulatory elements (CRE-SVs) to ASD. These elements control the
expression of genes. The researchers sequenced the genomes of 829 families, which included
880 individuals with ASD, 630 individuals without ASD, and their parents. Participants with
genetic mutations that are already well-established risk factors for ASD were not included in
this study. In this way, the researchers were able to focus on identifying noncoding inherited
genetic variants that might be associated with ASD.

The researchers identified structural variations in coding and noncoding portions of DNA,
and they examined the inheritance of these genetic elements from parents to their offspring.
Their research revealed deletions in protein-coding areas of genes were transmitted more
often from parents to offspring with autism than from parents to offspring without autism.
They also found that CRE-SVs were transmitted more often from fathers to offspring with
autism then from fathers to offspring without autism. Inheritance of maternal CRE-SVs were
not associated with ASD in offspring. Although the researchers found spontaneous (i.e., non-
inherited) genetic mutations in the coding regions of offspring’s DNA, no spontaneous CRE-
SV mutations in cases were found.

These findings were successfully replicated in a preregistered follow-up experiment

examining the genomes of over 6,000 people. Based on this experiment, the authors estimate
that:

 Rare inherited cis-regulatory components contribute in 0.77 percent of autism cases;

 Structural variants in coding regions contribute in 1.21 percent of autism cases;

 Additional inherited pathogenic variants contribute in 1.9 percent of autism cases;

and,

 Spontaneous mutations to coding regions contribute in 5.1 percent of autism cases.

The paternal origin of CRE-SVs associated with autism contrasts with what would be
expected based on simpler genetic models of autism which suggest that inherited genetic risk
factors for autism originate predominantly from mothers.

“The paternal origin effect that we see for CRE-SVs suggests that the inherited genetic
contribution from mothers and fathers may be qualitatively different,” said Dr. Sebat. The
findings also provide a demonstration of the usefulness of SV analysis for identifying and
understanding the genetic regulatory elements that influence risk for ASD.

Case study:

https://sensory-processing.middletownautism.com/casestudies/case-study-2/

References:

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(2018). Paternally inherited cis-regulatory structural variants are associated with
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Centers for Disease Control and Prevention. Autism and Developmental Disabilities
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