Neurodevelopmental disorders, intellectual and social disability.

Question 1

Most common genetic cause of learning disability?

Answer 1

Fragile X syndrome

Question 2

Why should a patient diagnosed with Fragile X Syndrome have an ECHO?

Answer 2

to look for mitral valve prolapse

as adults also develop AR

Question 3

IQ of a patient with mild learning disability?

Answer 3

50-70

Question 4

IQ of a patient with moderate learning disability?

Answer 4

35-49

Question 5

IQ of a patient with severe learning disability?

Answer 5

20-34

Question 6

IQ of a patient with profound learning disability?

Answer 6

<20

Question 7

Inheritance pattern of Fragile X syndrome?

Answer 7

X linked dominant

Question 8

Eye concerns in patients with fragile X syndrome and required review?

Answer 8

strabismus (squint)
long sightedness
visual perception problems
eyelids tend to puffiness

patients should have full assessment by optician/optometrist every 2 years

Question 9

When should prenatal testing for fragile X syndrome be offered?

Answer 9

to all women who are known carriers of the pre-mutation or full mutation or those with FH of fragile X syndrome

Question 10

Why ask about hot flushes when reviewing a woman with fragile X syndrome?

Answer 10

Assess for symptoms of premature ovarian insufficiency

note women with fertility/reproductive problems associated with raised FSH should be considered for Fragile X testing given 2% chance of them carrying a pre mutation in the FMR1 gene if unexplained fertility problems.

Question 11

Recommended assessment tool that can be used by GPs to help identify patients that require referral for suspected autism?

Answer 11

autism research centre AQ-10 test-10 questions

score 6 or more raises suspicion of autism

Question 12

Height and weight monitoring required for patients on ADHD medication?

Answer 12

Children and young people: height every 6 months, weight every 3 months 10 years of age or younger.
If over 10, weight at 3 months and 6 months after starting tx then every 6 months.
Weight every 6 months in adults.

note medication can only be started for children aged 5 and over

Question 13

CVS monitoring in patients on ADHD medications?

Answer 13

BP and HR check before and after each dose change, and every 6 months
ECG before starting tx

Question 14

3 core features of learning disability?

Answer 14

onset in childhood
lower intellectual ability (IQ<70)
significant impairment of function

Question 15

Leading cause of death in patients with intellectual disability?

Answer 15

respiratory disease

second is CVD

Question 16

Initial management of suspected ADHD in primary care if sx having an adverse effect on child/young persons development or family life?

Answer 16

• watchful waiting-up to 10 weeks encouraging self help and simple behavioural management
• offering parents or carers a referral to group based ADHD-focused support

may require immediate referral to CAMHS or specialist paediatrician if severe sx

Question 17

Primary causes of cerebral palsy?

Answer 17

prematurity
multiple gestation
maternal infection

Question 18

If a child with cerebral palsy is unable to sit or roll by what age then they are unlikely to be able to walk unaided?

Answer 18

2 years of age

Question 19

How long should an enhanced clinical and developmental follow up programme by an MDT carry on for in children with increased risk of cerebral palsy?

Answer 19

up to age of 2

Question 20

Why should persistent toe walking be referred urgently to a child development service?

Answer 20

may be a sign of cerebral palsy

Question 21

If no treatable causes are found, what treatment can be trialled for children with cerebral palsy and sleep problems?

Answer 21

melatonin-this should be initiated by a specialist

Question 22

First line drug treatment for adults with cerebral palsy and generalised spasticity causing functional impairment, pain or spasms?

Answer 22

enteral baclofen-muscle relaxant
main side effects=sedation and muscular hypotonia

if ineffective or not tolerated, refer person to a tone or spasticity management service
if spasticity in a limited number of muscle groups affecting their care e.g. dressing, consider referral for botulinum toxin A treatment.

Question 23

Which conditions are associated with developmental regression?

Answer 23

Rett syndrome-motor regression, loss of purposive hand movements (hand wringing movements common)
Epileptic encephalopathy-loss of previously acquired words and understanding of language, inability to recognise and interpret environmental sounds

Question 24

When should watchful waiting be considered in primary care for child with suspected autism rather than referral?

Answer 24

• AODL are only modestly limited or impaired and features suggestive of ASD AND
• low level of parental concern OR
• parents decline referral