9A. Childhood Disorders Flashcards
What percentage of people with autism have normal or above-average intelligence?
Over 40%
By which two criteria is autism diagnosed?
Impaired social communication and repetitive behaviours or narrow, obsessive interests
How many times more boys are diagnosed with autism than girls?
Four to five
Environmental factors that contribute to autism
Parents having children later in life, fever and infection during pregnancy, premature birth
Genes/mutations implicated in autism
FMR1: codes for fragile X mental retardation protein. Non-mutant form needed for normal cognitive development
PTEN: codes for tumor suppressor enzyme
TSC1 or TSC2: code for proteins controlling cell division
NF-1: children with variant of this gene develop tumors in childhood
What percent of people with FMR1 mutation have ASD, and what problem does the mutation cause?
50-60% of people with fragile X syndrome have ASD
What percent of people with TSC1 or TSC2 mutations have ASD, and what problem does the mutation cause?
40% of people with tuberous sclerosis complex have ASD
What percent of people with NF-1 mutations have ASD, and what problem does the mutation cause?
10% with neurofibromatosis (childhood tumors) have ASD
What pathway do the genes implicated in autism affect, and what is its function?
mTOR pathway, major pathway for regulating cell metabolism, growth, and proliferation
When are developmental issues involved with autism usually noticed?
Before first birthday
When can autism be reliably diagnosed?
Age 2
When is autism usually diagnosed
4 and a half
What is the apparent cause of autism?
Unusual cellular development within cerebral cortex. Both white and grey matter show alterations. Some have abnormally large brains and faster brain growth
Drugs used to treat autism
No cure. Some symptomatic relief from drugs designed for other uses like anxiety. Social benefits from oxytocin. Behavioural therapies still only proven treatment
What percentage of American parents report a child with ADHD?
11%
What percentage of those with ADHD carry the disorder into adulthood?
30%
Environmental risk factors for ADHD
Extreme early adversity, exposure to lead, low birthweight
Abnormalities in brain associated with ADHD
Unusual activity in neurons that release dopamine
Treatments for ADHD
Stimulants (methylphenidate), behavioural interventions
Distinctive features of Down Syndrome
Flattened face and bridge of nose, eyes slanted upward, small ears, small hands and feet, short, poor muscle tone, intellectual disabilities, hearing loss, heart defects
Key factors in intellectual disabilities of Down Syndrome
Poor connections among nerve cells in hippocampus, disfunction in mitochondria
Biological features of dyslexia
Brain areas involved in language are less well connected. E.g., word-form area, region on left side of brain, involved in recognition of printed words. Less brain activity in left occipitotemporal cortex, essential for skilled reading.