MS PEDIA - Autism Spectrum Disorder

Autistic disorder, Asperger’s, PDD-NOS, Rett’s disorder, Childhood Disintegrative Disorder

Pervasive Developmental Disorders under DSM-4

1 in 68

Occurrence of ASD

4:1

Ratio of occurrence of ASD (males:females)

18%

Occurrence of ASD in siblings

Polygenic variants

Genetic mutation where different genes contribute to increase the risk of a condition

Single nucleotide variants

Genetic condition where there is a change in a nucleotide of DNA

Copy number variants

Genetic mutation where there are duplicated/deleted sections of DNA

Genetic mutation where silent variants in the parents combine with another factor that leads to ASD = Rare inherited variants

Tandem repeats

Genetic mutation where a stretch of DNA repeats back to back

Noncoding variants

Genetic mutation where changes occur in DNA that don’t code leading to alterations in gene activity

valproic acid

Drug for seizures and mood stability that increase GABA; exposure increases risk of ASD

hyperexpansion of cortical surface areas

Neurobiological factor that is correlated with impaired social skills

dopamine

Neurotransmitter than is significant in the development of social skills and behavior interaction

25%

% with hyperserotonemia

loss of terminals of development

Result of serotonin elevation

Maternal immune activation

Immune response during pregnancy that leads to neurodevelopmental deficits in the developing fetal brain

inflammation, oxidative stress, and mitochondrial dysfunction in the fetal brain

Maternal immune activation triggers

infection, allergies, trauma/injury

Possible causes of inflammation

90%

% of serotonin produced in the gut

vagus nerve

Nerve that serves as a communication line between gut microbes and the brain

dysbiosis

Imbalance of gut microbes

leaky gut

When immuno cells/toxins such as LPS pass through the blood system and can travel to the brain; increases gut permeability

Clostridium

Bacteria that can affect microbiota of GI system

neuroinflammation

When LPS triggers the release of cytokines and overactivity of the amygdala, disrupting brain function

10x more

Clostridium in ASD

15%

% of ASD kids with macrocephaly

Before 3 years old

Age when ASD begins

2 years old

Age when ASD is more evident

Requiring support

ASD Functional Level 1

Requiring substantial support

ASD Functional Level 2

Requiring very substantial support

ASD Functional Level 3

35-50%

% with intellectual disability

23%

% with IQ ranging from 71-85

2/3

≤ 6 years old, __ have difficulty with expressive phonology and grammar

10-30%

% with exceptional abilities

Savant syndrome/splinter skills

Individuals with special skills in memory, mathematics, music, art, or puzzles (exceptional abilities)

catatonia

Rigid movements

17%

% with GERD

40%

% with anxiety

individualized, multidimensional, multidisciplinary

Three characteristics of intervention and support

9, 18, 24, or 30 months

When ASD screening is recommended

Modified Checklist for Autism in Toddlers (M-CHAT)

Screening test for ASD

Applied Behavior Analysis (ABA)

Model that targets and reinforces desired behaviors

atomoxetine

Non-stimulant that decreases impulsivity and hyperactivity and increases attention and concentration

a-agonists

Non-stimulant that helps with impulsivity, hyperactivity, sleep problems, and aggression

methylphenidate

Stimulant that treats hyperactivity

serotonin regulators (SSRI, SNRI, TCA)

Treat signs of depression

risperidone, aripiprazole

Atypical, prescribed antipsychotic drugs that target aggressive behaviors

oxytocin

Improves emotional recognition and social functioning

bumetanide

Restores GABA function which improves Childhood Autism Rating Scales

acetylcholinesterase inhibitors (rivastigmine, donepezil, and galantamine)

Improves speach and overall autistic behaviors

memantine

Improves language, social, and self-stimulatory behaviors

dietary interventions (ketogenic diet)

Improves cognitionand sociability

acupuncture

Improves independence (WeeFIM, PEDI, and CGI-I)

music therapy

Improves social interaction and overall ASD symptoms

anti-epileptic therapy

Used to treat epilepsy

melatonin

Used to treat sleeping problems

SSRIs, CBT

Used to treat anxiety

risperidone, aripiprazole

Used to treat aggression and self-injury

Alternative Augmentative Communication Strategy (AAC) and Picture Exchange Communication System for non-verbal individuals

Helpful interventions for speech and language