Neurodevelopmental Flashcards
1
Q
[Gen/ND/Basic]
Most common inherited intellectual disability?
A
Fragile X syndrome
2
Q
[Gen/ND/Basic]
Percentage of chromosomal abnormality in mild intellectual disability?
A
4-8%
3
Q
[Gen/ND/Basic]
Percentage of chromosomal abnormality in severe intellectual disability?
A
40-45%
4
Q
[Gen/ND/MDS]
Characteristics of Miller-Dieker syndrome? (2)
A
- Lissencephaly: severe intellectual disability, developmental delay, seizures, spasticity, hypotonia
- Distinctive facial features: a prominent forehead, midface hypoplasia, a small, upturned nose, low-set and abnormally shaped ears, micrognathia
5
Q
[Gen/ND/MDS]
Genetic cause of Miller-Dieker syndrome?
A
Partial deletion of 17p13.3, including PAFAH1B1 and YWHAE
6
Q
[Gen/ND/Rett]
Characteristics of Classic Rett syndrome (female)? (3)
A
- progressive neurodevelopmental disorder
normal psychomotor development during the first six to 18 months of life
followed by a short period of developmental stagnation
then rapid regression in language and motor skills
long-term stability - repetitive, stereotypic hand movement
- screaming and inconsolable crying, autistic features, panic-like attacks, bruxism, episodic apnea and/or hyperpnea, gait ataxia and apraxia, tremors, seizures, and acquired microcephaly.
7
Q
[Gen/ND/Rett]
Genetic cause of Rett syndrome?
A
MECP2
8
Q
[Gen/ND/Aicardi]
Triad of Aicardi syndrome?
A
- Agenesis of the corpus callosum
- Infantile spasms
- Chorioretinopathy
9
Q
[Gen/ND]
Name of syndrome?
- Distinctive facial features
downslanted palpebral fissures
low-hanging columella
high palate
grimacing smile
talon cusps - Broad and often angulated thumbs and halluces
- Short stature: height, weight, and head circumference percentiles rapidly drop in the first few months of life
- Moderate-to-severe intellectual disability
A
Rubinstein-Taybi syndrome
(CREBBP or EP300)
