Week 1 - F - Approach to child with developmental delay

Question 1

What is developmental delay defined as?

Answer 1

Failure to attain appropriate developmental milestones for child’s corrected chronological age.

Question 2

What is the syndrome affecting the MECP2 gene, which is found on the X chromosome that affects brain development, resulting in severe mental and physical disability?

Answer 2

Rett syndrome

Question 3

What type of developmental delay is Rett syndrome?

Answer 3

Regressional delay - loss of acquired skills

Question 4

What percentage of the UK child population have autism spectrum disorder?

Answer 4

1%

Question 5

What are the characteristics of the autism spectrum disorder?

Answer 5

Impaired social interaction

Impaired language and communication skills

Impaired imagination - rigidity of thinking

Ongoing social problems that include difficulty communicating and interacting with others.

Question 6

Red flags for development include Asymmetry of movement Not reaching for objects by 6 months Unable to sit unsupported by 12 months

What test should be carried out if the child is unable to walk by what period?

Answer 6

Measure CK (creatinine kinase if child is unable to walk by 18 months)

Question 7

What are the red flags for development?

Answer 7

Asymmetry of movement

Not reaching for objects at 6 months

Unable to sit unsupported by 12 months

Unable to walk by 18 months - measure CK

Question 8

Global developmental delay affects 1-3% of children under 5years of age

What are the most common causes of global developmental delay?

Answer 8

Down’s syndrome

Fragile X syndrome

Question 9

What are the criteria for GDD (global developmental delay)?

Answer 9

Significant delay in 2 or more of:

Gross motor

Fine motor and vision

Language and hearing

Social skills and play

Question 10

Below which IQ shows a learning disability?

Answer 10

IQ below 70

Question 11

What IQ does an individual require for profound learning disability?

Answer 11

IQ below 20

Question 12

Global developmental delays are seen in 2+ more of the categories for developmental Specific developmental delays are due to a delay in 2 or less categories What are examples of motor delay? (gross and fine)

Answer 12

Duchenne muscular dystrophy

Cerebral palsy

Question 13

What is the sign that indicates weakness in the proximal muscles (namely that of the lower limbs) where a child requries the use of his hands to ‘walk’ up theri own body from a squatting position to standing? What disorder is this seen in?

Answer 13

Gower’s manoeuvre (sign)

Seen in duchenne muscular dystrophy

Question 14

Types of spastic Cerebral Palsy (Limb involvement)

Answer 14

Monoplegia (1 limb affected)

Hemiplegia ( one side of body is affected, arms are usually more affected than legs)

Paraplegia (both legs affected)

Diplegia (all 4 limbs are affected but legs are more severely affected)

Quadriplegia (all 4 limbs are affected)

Question 15

What are some assoicated problems with cerebral palsy?

Answer 15

Vision/hearing impairment

Epilepsy

Communication difficulties

Mobility problems eg spasticity

Question 16

Cerebral Visual Impairment Society - CVI Society Cerebral Visual Impairment (commonly referred to as CVI) is a form of visual impairment caused by the brain not being able to process information from the eyes passing along the visual pathways in the brain. It is the commonest cause of visual impairment in children in the developed world.

What two conditions are often associated with CVI?

Answer 16

Hydrocephalus and cerebral palsy

Question 17

What is the autistic triad?

Answer 17

Communication

Social interactiion

Flexibility of thought/imagination

Question 18

What is the category of deveopmental delay in autism spectrum disorder (ASD) (clue - not gobal, specific or regression)?

Answer 18

Developmental deviation

Question 19

What is the 4 step approach to developmental delay?

Answer 19

History

Exam

Investigations

Assessments

Question 20

What sort of things do you look for on examination?

Answer 20

Head Circumference

Systems

Vision

Hearing

Question 21

What is dysmorphism? What is the dysmorphic feature in skin colouration in NF1?

Answer 21

A dysmorphic feature is a difference of body structure.

In NF1 - cafe-au-lait macules

Question 22

What is this?

Answer 22

Down syndrome

Base Conclusions on

• History
• Examination
• Investigations
• Multi-disciplinary assessment