MRCPsych Paper B - Learning Disability Flashcards
Case: 19yo history of epilepsy with skin depigmentaiton, white skin patches + severe ID + tumors in lungs and kidneys
Tuberous sclerosis
*ash leaf spots
Case: 12yo boy + long face, large ears + enlarged testes + short stature + speech abnormalities
Fragile X syndrome
Case: 6yo small skull, oblique upward slanted palpebral fissure + single transverse palmar crease
Down syndrome
*simian crease
Case: 3yo girl + normal milestones until 1yo + developmental decline (lost her milestones) + epileptic seizures, hand flapping, hand wringing
Rett syndrome
Case: 4yo boy + broad thumbs & great toes + fetal finger pads + beaked nose + rocking behavior + intolerance to loud noises
Rubenstein-Taybi syndrome
Behavioral phenotypes: stereotypic hand-wringing movements
Rett syndrome
Behavioral phenotypes: hyperactivity, cat-like cry
Cri-du-chat syndrome
Behavioral phenotypes: Self-injurious behavior and twirling
Cornelia de Lange syndrome
Behavioral phenotypes: social disinhibition and excessive friendliness, pseudomature language
Williams syndrome
*abnormal attachment
Behavioral phenotypes: attraction to water and laughing at minimal provocation
Angelman syndrome
LD condition affecting almost exclusively females
Rett syndrome
LD condition via mutation in gene for purine synthesis
Lesh-Nyhan syndrome
*hypoxanthine phosphoribosyl transferase → uric acid build up
LD condition that is the most common cause of inherited intellectual disability
Fragile X syndrome
*accounts for 1-12% ID in men
LD condition with central obesity, polydactyly, and night blindness
Laurence-Moon-Biedl syndrome
LD condition via microdeletion from maternal genetic source
Angelman syndrome
*chromosome 15 - maternal deletion
Proportion of ID cases caused by genetic inheritance
5%
Proportion of ID cases caused by pregnancy related and perinatal problems
10%
Proportion of ID cases caused by acquired general medical condition
5%
Proportion of ID cases caused by environmental influences
15-20%
Proportion of ID cases caused by no definite aetiology
30-40%
Estimated prevalence of schizophrenia from population based studies in individuals with ID
3%
Estimated prevalence of bipolar disorder from population based studies in individuals with ID
2-12%
Estimated prevalence of epilepsy (mild ID) from population based studies in individuals with ID
15-20%
Estimated prevalence of self-injurious behavior from population based studies in individuals with ID
10%
Frequency of epilepsy in Down syndrome
5-10%
Frequency of epilepsy in Fragile X syndrome
20-25%
Frequency of epilepsy in Rett syndrome
90%
Frequency of epilepsy in Angelman syndrome
90%
Frequency of epilepsy in Tuberous sclerosis
90%
Estimated prevalence of ADHD from population based studies in individuals with ID
20%