L1 Introduction to Neurodevelopmental Disorders & Fragile X Syndrome

Question 1

First, define what a Neurodevelopmental Disorder is, then state what determines whether a condition IS or IS NOT classed as a Neurodevelopmental Disorder.

Answer 1

A Neurodevelopmental Disorder (ND) is a disorder which has a genetic/multifactorial cause and leads to cognitive deficits across life without remission.

an ND is:

• not acquired
• cannot go into remission

Question 2

How are ND’s typically diagnosed?

Answer 2

Diagnosis process typically starts in infancy, when symptoms of ND start to emerge; however, can sometimes be present from birth (congenital).

1 - Child referred to a GP

2 - GP will then assess child, and recommend an appointment with a Clinical Developmental Psychologist who will assess the child against the DSM-IV or ICD-10 criteria

3 - Diagnosis will be made, and appropriate support and help will be put in place

Question 3

Discuss the use of terms such as “Disorder” and “Neurodiversity”.

Answer 3

Disorder:

• helpful in that it allows others to understand and be aware of one’s deficits
• unhelpful because it implies deficits which can make an individual feel helpless and limited

Neurodiversity:

• an approach that states that all Neurological conditions appear on a continuous spectrum, much like human genetics and variation should be welcomed not demonised
• proposes use of human first terms in research such as “neurotypical/ non-neurotypical”

Question 4

Discuss methods for assessing a child’s adaptive behaviours.

Answer 4

Vineyards Adaptive Behavior Scale (VABs) is a semi-structured interview conducted with a child and parents Assesses the child’s ability to engage in adaptive behaviours. Does this by measuring adaptivity in 4 domains (MDCS) using tasks:

1 - Motor skills
(eg “can you tie a knot?”)

2 - Daily Living
(eg “can you tell me the time?”)

3 - Communication
(eg “tell me what you think about football”)

4 - Socialisation
(eg “do you lose your temper easily? can you calm yourself down? do you have any best friends?)

Question 5

What is the prevalence of Fragile X syndrome?

Answer 5

Is the most common form of ND, affects 1/4000 Males, 1/6000 Females, (second x chromosome protective).

Question 6

what is Fragile X syndrome?

Answer 6

An ND which leads to cognitive impairments.

Question 7

What causes Fragile X syndrome?

Answer 7

Caused by an expansion of the CGG repeat sequence on the FMR-1 gene located on the X chromosome. The number of repeats predicts the severity of the disorder:

• 200-2000 repeats = Full mutation
• 50 - 200 repeats = Partial mutation
• 1 - 50 repats = Normal

Question 8

How is Fragile X diagnosed?

Answer 8

Genetic test for the length of repeat sequence (CGG) on the FMR-1 gene.

Question 9

What brain difference is seen in those with Fragile X compared to neurotypicals?

Answer 9

Lower white matter (region connecting neurons) present from ages 1-3 compared to neurotypicals.

Question 10

Describe common physical characteristics of Fragile X

Answer 10

• long narrow face
• prominent jaw and ears
• flat feet

Question 11

Describe common cognitive and behavioural characteristics of Fragile X and their links to other disorders

Answer 11

Fragile X linked with ADHD and ASD.

ADHD symptoms (prevalent in 54-59% of those with Fragile X:

• short attention span
• distractability
• impulsiveness
• restlessness
• overactivity

ASD symptoms (25-80% have ASD diagnosis, 50-90% display ASD symptoms):

• sensory problems
• social difficulties
• emotional difficulties
• communication problems

IQ = 40 in Males, 70 in Females

Question 12

What are the first signs of Fragile X

Answer 12

Sensory-motor Atypicalities (9-12 months):

• decreased object play
• prolonged attention to objects
• missing milestones (walking talking)

Question 13

What are relative strengths associated with Fragile X

Answer 13

• good imitators
• good visual learners
• sociable and personable