CHILDHOOD

DISORDERS
By: Shiza Sajid
AUTISM
 SYMPTOMS

● Considered a childhood condition, but symptoms persist lifelong

● People with autism can have mood and anxiety disorders, seizures,
intellectual disability, attention deficit hyperactivity disorder (ADHD), and
obsessive compulsive disorder (OCD)

● More than 40% of people with autism have normal or above average
intelligence

● Since symptoms can range from mild to severe, autism is considered a

spectrum
DIAGNOSIS

● Autism spectrum disorders (ASD) are diagnosed based on two criteria:

impaired social communication and interaction and repetitive
behaviours or narrow, obsessive interests

● For example, some people on the autism spectrum are unable to speak
while others are socially awkward but highly articulate

● Environmental factors such as parents having children later in life, fever

and infection during pregnancy, and premature births have been linked
to increased risk of ASD in children
GENETICS OF AUTISM
● Autism is believed to be at least partially driven by genetics

● People who have a twin or sibling with autism are more likely to be
diagnosed with ASD

● The genetics is complicated as there are dozens of genes involved,

and almost every person has a unique condition

● Scientists are investigating single genes with rare mutations that

cause intellectual disability and social dysfunction

● These genes include: FMR1, PTEN, TSCI, and TSC2

● 50-60% of people with fragile X syndrome and 40% of people with

tuberous sclerosis complex have ASD
 TREATING AUTISM
● The ASD-related genes influence a majors signalling pathway
called the mTOR pathway that is responsible for regulating
cell metabolism, growth, and proliferation

● This suggests that autism can be treated with drugs that

target the mTOR pathway

● Additionally, it appears the condition results from unusual

development within the cerebral cortex, the brain region that
is crucial to memory, attention, perception, and language

● Despite this progress, it is still difficult to diagnose the

condition because there are no biochemical indicators of
autism and it is only diagnosed based on behaviour, but
people can get symptomatic relief from certain drugs
ATTENTION
DEFICIT
HYPERACTIVITY
DISORDER (ADHD)
SYMPTOMS

● Usually characterized by inattentiveness, hyperactivity, and impulsive

behaviours

● Children with ADHD often struggle to make friendships, have poor grades
in school because of their behaviour, have trouble finishing what they
started, cannot remember to bring their homework back to school, and
struggle with following multistep directions

● Young people with ADHD have lower rates of high school graduation and
higher rates of suicide
DIAGNOSIS
● Like autism, ADHD is diagnosed using comprehensive evaluations and
interviews with both parents and teachers
● The evaluation must be very careful because problems with attention and
hyperactivity can be caused by other conditions such as depression, sleep
issues, and learning disorders
● They also must ensure that the behavioural issues are present in more than one
context, meaning not only in school or at home, but in both settings
● Environmental factors such as extreme early adversity, exposure to lead, and
low birthweight can be contributing factors
● People with ADHD do not have obvious brain alterations, but unusual activity in
brain cells that release dopamine
TREATING ADHD

● ADHD has no cure but can be treated using drugs and

behavioural interventions such as exercise and meditation

● ADHD medications include stimulants such as

methylphenidate that are available in long-acting formulas
so children are not interrupted during the school day to take
their medication

● Specialists have to ensure they find the right dose depending

on the child’s metabolism and side effects, which can
involve a period of experimentation
DOWN SYNDROME
SYMPTOMS
● This condition is caused when someone possesses an extra copy of all
or part of the 21st chromosome
● People with this syndrome have three copies of this genetic material
instead of two
● Sometimes, the extra copy, or trisomy, does not occur in every cell,
producing what is called mosaicism or mosaic Down syndrome
● Children born with Down syndrome have distinctive facial features,
included a flattened face and nose bridge, eyes that slant upward, small
ears, hands and feet, and a small stature
● Other symptoms include low to moderate intellectual abilities, hearing
loss, and heart defects
 DIAGNOSIS
● There is no clear cause of this genetic glitch, although a major risk factor is maternal age
● Mothers older than 40 are 8.5 times more likely to have a child with Down syndrome than
mothers aged 20-24
● Advanced paternal age has also been linked to higher incidence of this syndrome
● Another symptom that affects most people with Down syndrome is early Alzheimer’s
disease, often in their 40s or 50s
● This is because chromosome 21 contains the gene that codes amyloid precursor protein
(APP), an Alzheimer’s risk factor, so having an extra copy of it can cause the early onset
of this disease
● People with mosaic Down syndrome have milder symptoms as not all their cells are
affected
 TREATING DOWN SYNDROME
● There is no real treatment for Down syndrome or a clear
explanation of what occurs in the brain

● Poor connections among nerve cells in the hippocampus, the part

of the brain involved in memory are believed to be a key factor in
brain and intellectual differences of those with this disorder

● Dysfunction in the mitochondria may also play a role in

development of related disorders that involve energy metabolism,
such as diabetes and Alzheimer’s

● Scientists ran an experiment where they were able to use a gene

that normally inactivates the second X chromosome in female
mammals and splice it into cells that had three copies of
chromosome 21. In these cells, the inactivation gene was able to
mute the genes on the extra chromosome 21
DYSLEXIA
SYMPTOMS
● Most common and best-studied learning disability
● People with dyslexia have difficulty with reading despite having normal
intelligence
● Symptoms can include trouble with pronunciation, lack of fluency, poor
spelling, and hesitancy in speaking
● People with dyslexia may need more time to respond to verbal questions
or may read slower than their peers
● Usually diagnosed in elementary school when a child is struggling with
reading
 DIAGNOSIS
● Deciphering printed letters and words and recalling their sounds and
meanings involves many regions of the brain, and in people with
dyslexia these regions are less well-connected
● One of these areas is on the left side of the brain called the word-form
area which is involved in the recognition of printed letters and words
● People with dyslexia also show less brain activity in the left
occipitotemporal cortex, which is essential for skilled reading
● Research also believe that the brain differences are present before the
reading and language difficulties are apparent, although it is possible
that people with dyslexia read less and therefore their brain develops
less in regions associated with reading
GENETICS AND TREATMENT
● Dyslexia runs in families, with roughly half of dyslexics sharing
their condition with a close relative
● When one twin is diagnosed with dyslexia, the second twin also
has the condition 55-70% of the time
● Treatment involves behavioural and educational intervention,
including exercises like breaking words down into sounds and
using letter patterns
● Also use phonology which is the study of the patterns of sounds
and multiple levels of language skills
EPILEPSY
SYMPTOMS

● If someone has two or more seizures that cannot be explained by an

underlying medical condition, they are diagnosed with epilepsy, coming
from the Greek word meaning to “seize,” “attack,” or “take hold of”
● Seizures result from irregular activities in brain cells that can last 5 or
more minutes at a time
● Some seizures look like staring spells, while others can cause people to
collapse, shake, and become unaware of their surroundings
 CLASSIFYING SEIZURES
● Seizures are classified by where they occur in the brain
Generalized seizures Focal/Partial seizures
● Affect both sides of the brain ● Localized to one area of the
● Include petit mal and grand brain
mal seizures ● Include simple and complex
● Petit mal or absence seizures focal seizures
can cause rapid blinking or a ● Simple focal seizures can
few seconds of staring into cause twitching or a change
space in sensation, triggering
● Grand mal or tonic-clonic strange smells or tastes
seizures can make someone ● Complex focal seizures can
fall, have muscle spasms, cry leave a person confused and
out, and lose consciousness unable to answer questions or
follow directions
● A person can have secondary generalized seizures which begin in one part of the brain but
spread to become generalized, and in patients with severe epilepsy multiple types of seizures
can occur at the same time
 DIAGNOSIS
● Epilepsy has many possible causes and is therefore considered a
spectrum rather than a single disorder
● Causes can include premature birth, brain trauma, and abnormal
development due to genetic factors
● We know that genetics is involved due to attributes of epilepsy
patients such as head size, movement disorders, and family
history
● Seizures can also cause psychiatric and intellectual problems
● For example, some seizures may suppress the growth of
dendrites, leaving the person emotionally unsettled or less able to
learn
 TREATING EPILEPSY
● Treatment for epilepsy is directed towards controlling seizures with medication
● About half of patients, especially those with generalized epilepsy can reduce their seizures by
eating a ketogenic diet which relies on high-fat, low-carb foods, although it is unclear why this
diet is effective
● For more severe cases, doctors might perform surgery to remove or inactivate the
seizure-causing parts of the brain
● In the most severe cases, where one side of the brain triggers seizures in the other side,
surgeons will perform split-brain surgery, cutting the corpus callosum, a thick band of matter
that connects the two sides of the brain. After this, nerves cannot send seizure signals
between the brain’s two halves
● Once seizure are controlled, people with epilepsy can continue their regular lives