Neurodevelopmental Flashcards
[Gen/ND/Basic]
Most common inherited intellectual disability?
Fragile X syndrome
[Gen/ND/MDS]
Characteristics of Miller-Dieker syndrome? (2)
- 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
[Gen/ND/MDS]
Genetic cause of Miller-Dieker syndrome?
Partial deletion of 17p13.3, including PAFAH1B1 and YWHAE
[Gen/ND/Rett]
Characteristics of Classic Rett syndrome (female)? (3)
- 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.
[Gen/ND/Rett]
Genetic cause of Rett syndrome?
MECP2
[Gen/ND/Aicardi]
Triad of Aicardi syndrome?
- Agenesis of the corpus callosum
- Infantile spasms
- Chorioretinopathy
[Gen/ND/Basic]
Percentage of chromosomal abnormality in mild intellectual disability?
4-8%
[Gen/ND/Basic]
Percentage of chromosomal abnormality in severe intellectual disability?
40-45%
[Gen/ND/FA]
Characteristics of Friedreich ataxia? (5)
- Age
- Presentation
- Sensory, Reflex
- Commonly associated disease
- Age at onset: 10-15 yrs
- Slowly progressive ataxia
dysarthria, muscle weakness, spasticity - Particularly in the lower limbs, scoliosis, bladder dysfunction
- Absent lower-limb reflexes, and loss of position and vibration sense
- Diabetes mellitus
[Gen/ND/FA]
Friedreich ataxia
Inherited pattern?
Genetic cause?
Autosomal recessive
FXN on chromosome 9
