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Autism

Uni of Notts, Neurobiology of Disease, year 2, topic 13

TermDefinition
Core diagnostic domains of ASD Deficits in two core domains: social impairment (atypical social behaviors) & speech communication discrepancy (disrupted verbal/non-verbal communication) + restricted repetitive & stereotypic behaviors
Spoken language delay in ASD Manifests as heterogeneous delay in spoken language occurring in approximately 50% of autism spectrum disorder cases
Autism diagnostic classification under the DSM-V Combines autistic disorder, Asperger's disorder, & pervasive developmental disorder-not otherwise specified (PDD-NOS), into a single umbrella diagnosis of Autism Spectrum Disorder
FDA-approved medications for autism Only 2nd & 3rd generation antipsychotics (e.g., risperidone, aripiprazole); reduce irritability, aggression, & repetitive behaviors but don't treat underlying core social or communicative deficits
Prevalence & sex distribution of autism spectrum disorder 1 in 68 children under 8 in the US; however, prevalence has risen to 1 in 31 children, roughly 3.4 to 5 times more common in males
Clinical utility of EEGs in autism Detect clinical seizures & subclinical epileptiform activity (especially during sleep). Identifying & treating autism-related seizures can improve language regression, cognitive function, & aggressive behaviors
Chromosomal Copy Number Variations (CNVs) in autism large sections of genomic DNA are deleted or duplicated. These often disrupt multiple genes critical for synaptic pathway development & neurodevelopment
Synaptic proteins Trio & SHANK3 in ASD De novo or rare inherited mutations impact Trio & SHANK3 proteins within dendritic spines of glutamatergic neurons, leading to abnormal enhancement or reduction of glutamatergic synaptogenesis
Cortical minicolumn & whole-brain alterations in autism Cortical minicolumns (basic anatomical microcircuits of the cerebral cortex) narrower, more numerous, or more tightly packed in ASD, altering local connectivity & disrupting the balance of excitation & inhibition. Brain slightly larger until adolescence
Cellular & molecular pathway changes Variations in voltage-gated sodium channels alter baseline neuronal activity. Cellular changes also affect activity-dependent protein synthesis, cell adhesion molecules, & phospholipid homeostasis via ABCA transport channels
Role of the SHANK3 protein at the synapse Acts as a scaffold to array post-synaptic receptors (NMDA-R, AMPA-R, mGluR). Dysfunctional SHANK3 can result in severely diminished or absent glutamatergic signaling in ASD
Neuroligins & excitatory-inhibitory balance Post-synaptic cell adhesion molecules that bind neurexins, aligning glutamate or GABA receptors to guide synaptogenesis. Mutations disrupt GABA/glutamate balance, causing atypical, aberrant neural signaling
Impact of GABA signaling mutations in mice Specific mutations elevate spontaneous inhibitory post-synaptic currents (IPSCs) without changing spontaneous EPSCs. The increased GABAergic signaling correlates directly with reduced social interaction behaviors
Neurexins in synaptic adhesion Presynaptic membrane proteins that interact with exocytosis machinery & bind to postsynaptic neuroligins. They physically link across the synaptic cleft to structurally stabilize & maintain the synapse
Dopamine D2 receptor alterations in the striatum in autism Post-mortem tissue from individuals with ASD shows a marked upregulation of dopamine D2 receptors within the dorsal striatum, an alteration that downstream reduces intracellular cyclic AMP (cAMP) signaling pathways
Dopamine Transporter T356M mutation kinetics in autism highly conserved de novo mutation swaps threonine for methionine (T356M) in the DAT protein across species, severely impairing dopamine transport kinetics & inducing profound hyperactivity, even during nocturnal periods
Peripheral versus central serotonin paradox in autism Peripheral hyperserotonemia (elevated blood serum 5-HT from platelets & enterochromaffin cells) but decreased serotonin levels & reduced 5-HT2A receptor binding in the brain. Tryptophan is depleted & SSRIs have little theraputic benefit
SERT Gly56Ala variant effects in autism Gain-of-function mutation in SERT elevates blood serotonin, slows raphe nucleus firing, & directly alters social communication & interaction behaviors in vivo
Parental age & non-genetic autism risk factors Advanced maternal age, C-section, & a large age gap between parents dramatically increase likelihood of ASD. Mitochondrial dysfunction, inflammation, oxidative stress, & environmental toxins
Gut dysbiosis & intestinal permeability in ASD Altered gut microbiota triggers neuroinflammation via inflammatory cytokines released into the bloodstream. Dysbiosis is associated with a highly permeable ("leaky") GI tract, affecting local monoamine & neuropeptide production
Maternal immune activation & Bacteroides fragilis Inducing maternal immune activation in pregnant mice alters offspring microbiota, leading to anxious phenotype. Oral treatment of offspring with the bacterial strain Bacteroides fragilis reverses this behavioral phenotype
Non-medication autism therapy If delivered early enough can help improve later life symptoms by promoting Theory of Mind & encouraging socialising
Autism common comorbidities GI disturbances (~50%), sleep disturbances, motor deficits, ADHD, mood disorders, anxiety, depression, OCD
Difficulties with biological diagnosis of autism No specific common microscopic or macroscopic neuropathologies, brain region, or biomarkers. Possible to indicate with eye-tracking, autistic people's eyes linger for less time on the face
Genetic predisposition stats Only 3% are single-gene mandelian inheritance. Some have CNVs, 10% have spontaneous de-novo mutations, ~80% are unexplained or have too many factors. Siblings have ~20% concordance but 60-90% in identical twins
Created by: Denny12
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