Lecture 1 - Neurodevelopmental Disorders Flashcards
What is a neurodevelopmental disorder?
Any condition of a genetic or multi factorial origin that result in one or more specific cognitive differences.
These differences are present early in life and extend to adult life without showing relapse or remission.
What is cognition?
How we think and learn e.g. language, attention, memory, reasoning.
What is behaviour?
How we act and interact.
What is not a neurodevelopmental condition?
Any condition that you had in childhood but not now.
Any condition that has developed now that you didn’t have in childhood.
What are some examples of neurodevelopmental disorders?
Autism, Williams Syndrome, Sotos Syndrome, Fragile X Syndrome, Downs Syndrome, ADHD, Rett Syndrome, Prader-Willi Syndrome.
What is the diagnostic process for neurodevelopmental conditions?
Step 1: Referral from a GP or health visitor - usually happens when a doctor sees the child is missing milestones.
Step 2: Formal assessment on the NHS - diagnosis usually made by clinical psychologist or clinical geneticist. This may be a multi-disciplinary diagnostic assessment.
Step 3: Post-diagnostic support e.g. in school support such as speech and language therapy/classroom assistance via an Education, Health and Care Plan (EHCP).
What is a chromosomal condition?
Any condition that is caused by a change to the structure or number of chromosomes. Could be due to a deletion or duplication of chromosomal material.
What is the cause of Downs Syndrome?
All of or part of a third copy of chromosome 21. It is the most common chromosome abnormality in humans.
What are the characteristics of Downs Syndrome?
Physical growth delays, a particular set of facial characteristics and intellectual disability.
What is the cause of William’s Syndrome?
A deleted region on the chromosome 7. This region is not the same for everyone and it may be that a part of the chromosome is flipped or a substitution.
What is the cause of Sotos Syndrome?
Mutations in the NSD1 gene on chromosome 5.
What are the characteristics of Sotos Syndrome?
Physical overgrowth during the first years of life. They are often taller, heavier and have larger heads than peers. They also often have intellectual disabilities.
What is the cause of Prader-Willi Syndrome?
Loss of expression of paternal genes from chromosome 15p11.2-q13.
What are the characteristics of Prader-Willi Syndrome?
Trouble with feeding until age 4 when they start to overeat which leads to obesity - they are fooled into thinking they are still hungry. They may have minor intellectual issues and have a relative growth hormone deficiency. They may also have obsessive behaviour, poor body temperature, poor muscles etc.
They are able to express themselves relatively well.
What is the cause of Rett Syndrome?
Mutation within the MECP2 gene located on the X chromosome.