Learning Disabilities

Question 1

Prader-Willi syndrome

Answer 1

Obesity, small hands and feet, micro-orchidism, short stature, almond shaped eyes, flat face, prominent forehead, bitemporal narrowing, orthopaedic problems, hypotonia, failure to thrive in infancy, sleepiness, traingular mouth causing swallowing difficulties.
Deletion of paternal chromosome 15q12
Obsession with food, insatiable appetite, hyperphagia, obesity, skin picking, impulsivity, aggression, ocd

Question 2

Williams syndrome

Answer 2

Hypercalcemia, supra valvular aortic stenosis, elfin like face, irrepressible and affectionate outlook, high prevalence of anxiety disorder, phobias, hyperacusis, good language abilities but visiospatial/motor defects. Autosomal dominant (ch7)

Question 3

Savant syndrome

Answer 3

Characterised by extraordinary proficiency in one isolated skill