Neurodevelopmental Disorders- Week Nine Flashcards
What 3 syndromes are caused “purely” by genetics
Fragile X Syndrome- hereditary
Williams Syndrome
Downs Syndrome
What causes fragile X syndrome?
Is is hereditary
X- linked recessive disorder- meaning males are more likely to get it than females
Inhibits the FMR1 gene- which prevents receptor signalling
Physical symptoms of Fragile X Syndrome
Prominent ears
Hyper-extendable finger joints
Flat feet
Behavioural symptoms of Fragile X Syndrome
Poor eye contact
Hand- flapping
Defensiveness
Psychological symptoms of Fragile X Syndrome
Language delay
Motor delay
Intellectual deficits
What causes Williams syndrome
Is genetic, not heredity
Caused by a deletion of genes on chromosome 7
Essential for neuro development of connective tissue and synaptic plasticity
What are the physical symptoms of Williams syndrome
Elfin face: wide mouth, flattened nose, bulgy cheeks
Slow growth
Joint problems
What are the neuropathological issue of Williams syndrome
Thickening of the cortex- associated with psychological problems face by William’s syndrome
Reduced cortical volume and white matter- effects myelin sheath and speed of neurons
Reduced grey matter density
What are the neuropsychological characteristics of Williams syndrome
Emotionally immature Impaired visual-spatial skills Short concentration Hyperactivity- excessive talking and language skills Unusual response to sound
What causes Down’s Syndrome?
Genetic not hereditary
Extra chromosome 21
Leads to atypical brain development through biochemical changes
What are the physical symptoms of Down’s Syndromes
Round heads, low set ears, stubby hands
Eyes sight and oral problems
Heart and respiratory problems
What are the psychological symptoms of Down’s Syndromes
Cognitive and learning problems; information processing, attention, integration, STM
Slower language development
What is the neuropathology of Down’s Syndrome
Brain is 10% lighter
Frontal lobes are smaller
Reduced synaptic density
Reduced No of connections between neurons
What are the disorders caused by the environment
Foetal alcohol syndrome
Attachment disorders
How is foetal alcohol syndrome caused
Alcohol can cross the placenta during pregnancy
Safe level not known
Severity depends on how much and when the alcohol was consumed