Case 13 SAP Flashcards
Autism
Broad range of presentations with very different impacts on societal interaction
ADHD
Developmentally excessive levels of inattention, impulsivity, and hyperactivity
ADHD prevalence
5-10%
Tourette’s syndrome
Involuntary movement and vocal tics
Synaesthesia
Stimulation to one cognitive pathway leads to unintentional experiences in another cognitive or sensory neurological pathway
Dyslexia
Difficulties in decoding writing leading to slow reading, thought to relate to impaired function of reading network
Dyslexia prevalence
15%
Dyscalculia
Difficulty performing maths, possibly linked to visuo-spatial working memory
Dyscalculia prevalence
5%
Dysgraphia
difficulty writing as a process or legibility. related to development coordination disorder
dysgraphia prevalence
2%
Dyspraxia
inability to utilise voluntary motor abilities effectively in all aspects of life from play to structured skill task
dyspraxia prevalence
6%
The presence of what suggests a learning disability?
significantly reduced ability to:
understand new or complex information
learn new skills
cope independently
also lasting effect on development if started before adulthood
Some causes of learning disabilities
inheritance, genetic mutations, chromosomal abnormalities, brain damage around birth, illness of mother in pregnancy, illness of child in early years
around how many people in the UK have a learning disability?
1.5 million
What is the most common inherited learning disability?
fragile X syndrome
Prevalence fragile X worldwide
1/5000
which gene is associated with fragile X?
FMR1
how many repeats in the FMR1 gene are needed for pre-mutation?
55 - 200
what other conditions is pre-mutation associated with in fragile X?
premature ovarian failure (females)
fragile X-associated tremor/ataxia syndrome (FXTAS)
which sex is FXTAS more common in?
males
typical male phenotype in fragile X
learning disability
long face
large and protruding ears
macro-orchidism
chance of heterozygous female with FM allele having normal IQ (fragile X)
30%
chance of heterozygous female with FM allele having learning disability and IQ < 70 (fragile X)
25%
features of fragile X (in descending order of prevalence)
psychomotor delay
aggressiveness
attention problems (including ADHD)
anxiety disorder
ASD
sleep problems
epilepsy
what percentage of autism cases is fragile X responsible for?
1-6%
what is the leading genetic cause of learning disabilities?
down sydrome
which chromosome is affected in Prader Willi Syndrome?
15 (q11-q13)
genetic defect in Prader Willi syndrome?
loss of expression of genes from error in genomic imprinting in both male and female gametogenesis
Angelman syndrome genetics
paternal genes for Prader Willi and maternally expressed UBE3A gene in same region
Williams syndrome gene defect
microdeletion disorder (loss of 25-27 genes)
which chromosome is effected in Williams syndrome?
7 (q11-23)
cardinal symptoms of Williams syndrome?
CVD
distinctive appearance
learning disability
hypersociability
Rett syndrome
severe neurodevelopmental disorder with loss of attained developmental milestones around 6-12 months of age
which sex is more commonly affected by Rett syndrome?
female
which gene is generally mutated in Rett syndrome?
MECP2
foetal alcohol spectrum disorder
prenatal exposure leading to developmental deficits, characteristic facial appearance, reduced growth and concentration, and learning disability
cause of cerebral palsy
due to impaired development or issues surrounding birth
primary feature of cerebral palsy
damage to motor cortex
developmental illnesses in utero
rubella in first trimester
encephalitis
toxoplasmosis
CMV
syphilis
main developmental illness in childhood
meningitis
