Developmental delay

Question 1

What is meant by developmental delay?

Answer 1

A child who is slow to achieve milestones or lags behind on a specific developmental domain. They may have underlying pathology

Question 2

Define median age in the context of development

Answer 2

Age at which half the population achieves a skill

Question 3

Define limit age in the context of development

Answer 3

Age at which 95% of the population develop a certain skill

Question 4

What is Gross developmental delay?

Answer 4

Slow in ≥2 developmental domains

Question 5

What underlying pathologies can cause gross developmental delay? (5)

Answer 5

• Down’s syndrome
• Fragile X syndrome
• Foetal alcohol syndrome
• Rett syndrome
• Metabolic disorder

Question 6

What is Rett syndrome?

Answer 6

rare, progressive neurodevelopmental disorder primarily affecting females, caused by mutations in the MECP2 gene on the X chromosome

Question 7

What metabolic disorders can cause gross developmental delays? (5)

Answer 7

• Amino acid metabolism disorders like phenylketonuria
• Lysosomal storage disorders like Tay-Sachs
• Mitochondrial disorders like Leigh syndrome
• Congenital hypothyroidism
• Wilson’s disease

Question 8

What’s 1st line investigation for gross developmental delay?

Answer 8

Genetic karyotyping

Question 9

What conditions cause gross motor delay? (5)

Answer 9

• cerebral palsy
• Ataxia
• Myopathy
• Spina bifida
• Visual impairment

Question 10

What is ataxia?

Answer 10

lack of voluntary coordination of muscle movements

Question 11

What are the developmental gross motor milestones?

Answer 11

• Head control (3 months)
• Sitting up (6 months)
• Crawling (9 months)
• Walking (12 months)

Question 12

What conditions can cause fine motor delay? (5)

Answer 12

• cerebral palsy
• dyspraxia
• congenital ataxia
• muscular dystrophy
• visual impairment

Question 13

What are the developmental fine motor milestones?

Answer 13

newborn: fix and follow
6 weeks: turn head 90 degrees
3-4 m: hand regard (looks at hands/ objects)
6 m: palmar grasp
10 m: pincer grip
12 m: points with finger
18 m: scribbles, 3 brick tower
2 yo: Draws straight line. 6 brick tower
3 yo: Draws circle. Builds bridge
4 yo: Draws X. Builds steps
5 yo: Draws a triangle

Question 14

What are the limit ages for certain milestones?

Answer 14

• Fixing and following → 3 months
• Reaching out for toys → 6 months
• Transfer toys between hands → 9 months
• Mature pincer grip → 12 months

Question 15

What conditions can cause language delay? (5)

Answer 15

• hearing impairment
• learning disability
• neglect
• autism
• cerebral palsy

Question 16

What are the developmental speech and hearing milestones?

Answer 16

newborn: startles to loud noises
6 m: turns head to sounds
10 m: responds when called. “mama”, “dada”
12 m: responds to own name. 3 words
18 m: Head nodding/ shaking. Vocal of 10 words with meaning
2 yo: Names body parts. Follows one step commands
3-4 yo: talks in 3-4 word sentences. Understands complex commands.

Question 17

What hearing tests do we do at these different ages?

Answer 17

1. Newborn: Otoacoustic emission test (part of newborn hearing screening programme) IF ABNORMAL: perform Auditory brainstem response test
2. 6-9 months: Distraction test
3. > 3 years: Pure tone audiometry

Question 18

What happens during the otoacoustic emission test?

Answer 18

A small probe is placed in the baby’s ear to emit sounds. If the cochlea (inner ear) is functioning normally, it produces echoes (otoacoustic emissions) that are detected by the probe.

Question 19

What happens during the distraction test?

Answer 19

The infant is seated with a tester using sound-making objects (e.g., rattles) to distract and observe head-turning towards the noise source.

Question 20

What happens during the pure tone audiometry?

Answer 20

The child wears headphones and listens for different tones at various frequencies and volumes, responding when a sound is heard (e.g., by pressing a button).

Question 21

What investigation do we do in children with delayed speech?

Answer 21

Organise hearing assessment before making an onward referral to speech and language therapy

Question 22

What conditions can cause personal and social delay? (3)

Answer 22

• Emotional/social neglect
• Parenting issues
• Autism

Question 23

What are the developmental social milestones?

Answer 23

6 weeks: smiles
3 m: laughs
6 m: holds and eats food
10 m: waves goodbye
2 yo: plays next to other children
3 yo: Eats with a fork. Plays with other children. Can play alone without carers nearby
4 yo: bladder control. Can dress and undress self

Question 24

What are the overall red flags for personal and social delay? (5)

Answer 24

• No social smile by 8 weeks
• Not sitting by 8 months
• Not walking by 18 months
• No words by 2 years
• Developmental regression at any time