Behavioural phenotypes

Question 1

Downs syndrome

Answer 1

• CHildhood- ODD,ADHD

- adulthood- early onset dementia

Question 2

Fragile X

Answer 2

• shy
• gaze avoidance
• social anxiety
• anxious, inattentive, hyperactive
• schizotypal disorder
• 5-10% have ASD

Question 3

Prader Willi syndrome

Answer 3

• food obsession with insatiable appetite
• hyperphagia and obesity
• skin picking
• impulsivity
• aggression
• OCD

Question 4

Smith Magenis syndrome

Answer 4

• hyperactive
• impulsive
• aggressive
• stereotypic movements (self hugging)
• self-injury- head banging, nail pulling, putting objects into bodily orifices

Question 5

Williams syndrome

Answer 5

• elfin-face
• endearing
• very affectionate
• anxiety disorder
• phobias
• ADHD
• sleep disorder
• hyperacusis
• visuospatial/motor deficits

Question 6

Cornelia de Lange

Answer 6

-self-injury

Question 7

Lesch Nyhan

Answer 7

compulsive severe mutilating self injury

Question 8

Velocardiofacial syndrome

Answer 8

-schizophrenia or schizoaffective disorder

Question 9

Rett syndrome

Answer 9

stereotypic hand movements

• reduced interest in play
• autistic like symptoms

Question 10

Angelman syndrome

Answer 10

• puppet like gait
• attraction to water
• happy disposition
• laughing at minimal provocation

Question 11

Cri du chat syndrome

Answer 11

-inappropriate laughter, cat-like cry during infancy

Question 12

Sanfilippo

Answer 12

prominent sleep disorder