Behavioural phenotypes Flashcards
1
Q
Downs syndrome
A
- CHildhood- ODD,ADHD
- adulthood- early onset dementia
2
Q
Fragile X
A
- shy
- gaze avoidance
- social anxiety
- anxious, inattentive, hyperactive
- schizotypal disorder
- 5-10% have ASD
3
Q
Prader Willi syndrome
A
- food obsession with insatiable appetite
- hyperphagia and obesity
- skin picking
- impulsivity
- aggression
- OCD
4
Q
Smith Magenis syndrome
A
- hyperactive
- impulsive
- aggressive
- stereotypic movements (self hugging)
- self-injury- head banging, nail pulling, putting objects into bodily orifices
5
Q
Williams syndrome
A
- elfin-face
- endearing
- very affectionate
- anxiety disorder
- phobias
- ADHD
- sleep disorder
- hyperacusis
- visuospatial/motor deficits
6
Q
Cornelia de Lange
A
-self-injury
7
Q
Lesch Nyhan
A
compulsive severe mutilating self injury
8
Q
Velocardiofacial syndrome
A
-schizophrenia or schizoaffective disorder
9
Q
Rett syndrome
A
stereotypic hand movements
- reduced interest in play
- autistic like symptoms
10
Q
Angelman syndrome
A
- puppet like gait
- attraction to water
- happy disposition
- laughing at minimal provocation
11
Q
Cri du chat syndrome
A
-inappropriate laughter, cat-like cry during infancy
12
Q
Sanfilippo
A
prominent sleep disorder
