Lecture 27

Question 1

Neurodevelopment disorders

Answer 1

Affects brain development and function. Affected by clinical and genetic variability. Characterised by inability to reach cognitive, emotional and motor developmental milestones. Associated with the disruption to the tightly coordinated events during brain developments. 3% children globally.

Question 2

Range of developmental disorders

Answer 2

Brain development influenced by genes and environment. Heterogenous aetiology.

Question 3

Genetics

Answer 3

Inherited or de novo variants. Mono or polygenetic and compose the following genetic variations.

• Single base variants
• Amplification of trinucleotide repeates
• Copy no. variants
  -chromosomal rearrangements
  -chromosome aneuploidy

Question 4

Symptom and severity

Answer 4

Disorders range with symptoms and symptom severity. No cure but some symptoms can be managed with specialists. Common comorbidity is epilepsy therefore, holistic approach to increase QOL. Genetic tests can help guide treatments.

Question 5

Advances in precision medicine

Answer 5

gene therapy, cannabidol therapy, antisense oligodendrocytes therapy.

Question 6

Rett Syndrome

Answer 6

De novo mutations in MECP2 gene. X-linked. Confirmed by sequencing MECP2 gene, clinical diagnosis.

-Slow head growth
- Abnormal hand movements
- Inability to walk/talk
- Decrease in social skills