Approach to the Child with Developmental Delay

Question 1

4 areas of development?

Answer 1

1. Gross motor
2. Fine motor and vision
3. Language and hearing
4. Social behaviour and play

Question 2

Define developmental delay?

Answer 2

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

Question 3

3 patterns of abnormal development?

Answer 3

1. Delay - can be:
   • Global (affecting all areas of development)
   • Specific (affecting 1 of the 4 areas of development)
2. Deviation
3. Regression (loss of skills that were previously developed)

Question 4

Example of deviation?

Answer 4

Autism Spectrum Disorder (ASD)

Question 5

Examples of regression?

Answer 5

Rett’s syndrome

Metabolic disorders, e.g: febrile illness - can result in loss of skills that were previously developed; these may/may not be regained

Question 6

Define mild and severe learning disability?

Answer 6

Mild - IQ 50-70

Severe - IQ <50

Question 7

Examples of a specific learning disability?

Answer 7

Dyslexia, dyscalculia

Question 8

Red flags for development?

Answer 8

1. Asymmetry of movement
2. Not reaching for objects by 6 months
3. Unable to sit unsupported by 12 months
4. Unable to walk by 18 months (check creatine kinase)
5. No speech by 18 months
6. Concerns from family/friends of vision (e.g: squinting) or hearing
7. Loss of skills (regression)

Question 9

Define global developmental delay?

Answer 9

Significant delay in 2+ of:
• Gross/fine motor, speech / language
• Cognition, social/personal, • ADL (activities of daily living)

In school-aged children, it is termed learning disability

Question 10

Features of Down’s syndrome (AKA trisomy 21)?

Answer 10

Mental impairment and stunted growth

Umbilical hernia

Increased skin at the back of the neck, a short neck and a flat head

Low muscle tone and flexible ligaments

Narrow roof of mouth, proportionally large tongue that protrudes, abnormal teeth

Abnormal outer ears, flattened nose, slanted eyes and Brushfield spots in iris

Separation of 1st and 2nd toes, a bent 5th fingertip (clinodactyly) and a single transverse palmar crease

Congenital heart disease, obstructive sleep apnoea, strabismus (eyes do not properly align when looking)

Undescended testicles)

Question 11

Medical screening in Down’s syndrome involves?

Answer 11

Cardiac screening (many have congenital heart defects, e.g: atrio-ventricular septal defect)

Vision

Hearing

Thyroid function (many develop hypothyroidism)

Sleep-related breathing disorders, e.g: sleep apnoea

Growth charts (are often short but tend to be overweight)

Development

Question 12

Examples of specific developmental delays?

Answer 12

Motor delays:
• Duchenne Muscular Dystrophy (DMD)
• Cerebral palsy
• Coordination disorders

Language delays:
• Specific language impairment

Sensory deficits and assoc. delay:
• Oculocutaneous albinism, Treacher-Collins

Developmental deviation:
• Autism Spectrum Disorders

Question 13

Features of DMD?

Answer 13

Development of a lordotic posture

+ve Gower’s manoeuvre indicates pelvic girdle weaakness; this is where the child has to push themselves up by moving hands all the way up their legs

Question 14

Types of cerebral palsy?

Answer 14

Hemiplegic - arm and leg on one side

Paraplegic - both legs only

Diplegic - both legs with slight inv. elsewhere

Quadriplegic - both arms and both legs

Question 15

Features of hemiplegia?

Answer 15

One side is completely/almost normal and the other has abnormalities:
• Arm bent with the hand spastic/floppy and often of little use
• Walking on tiptoe or outside of foot on the affected side

Question 16

Features of paraplegia?

Answer 16

Upper body is usually normal or with very minor signs; may develop contractures of the ankles and feet

Question 17

Features of quadriplegia?

Answer 17

When they walk, arms, head and even mouth twist strangely

Children with all 4 limbs affected often have such severe brain damage that they are never able to walk

Knees press together and legs and feet turn inwards

Question 18

Conditions assoc. with cerebral palsy?

Answer 18

Mobility problems, spasticity and orthopaedic problems

Learning, communication, feeding difficulties

Behaviour and sleep problems

Epilepsy

Visual/hearing impairment

Question 19

Cautions when considering visual impairment in those with complex disabilities?

Answer 19

Many have cerebral visual impairment so have a high a level of suspicion

Question 20

Signs of visual impairment in cerebral palsy?

Answer 20

Photophobia

Rapid, involuntary eye movements

Question 21

What is Treacher-Collins syndrome?

Answer 21

Autosomal dominant condition characterised by craniofacial deformities, inv. ears, eyes and cheekbones but their is normal intelligence

They have conductive hearing loss

Question 22

What is the autistic triad?

Answer 22

Difficulties shared by all patients with autism:
• Communication
• Social interaction
• Flexibility of thought/imagination

Question 23

Other problems that occur in the autistic triad?

Answer 23

Restricted, repetitive behaviours

Sensory difficulties

Question 24

Describe receptive language in autistic patients

Answer 24

This is delayed (they tend to be better with expressive language)

They do not understand abstract language (idioms)

They are more visually able (pictures accompanying words)

Question 25

Describe expressive language in autistic patients

Answer 25

This is also delayed and they tend to echo

They have an odd intonation/pitch

They can repeat chunks of video speak

Question 26

Issues autistic patients have with non-verbal language?

Answer 26

Trouble with facial expressions and gestures

Trouble with eye contact

Trouble recognising the intentions of others

Question 27

Issues autistic patients have with use of language?

Answer 27

INITIATING and SUSTAINING conversation

Restricted interests

Lack of awareness of reciprocal nature of conversation

Question 28

Features in the social interaction of ASD patients?

Answer 28

Joint attention and referencing trouble (pointing and looking at the person to see if they know that they are pointing)

Turn-taking

Unable to share pleasure and they are not motivated by a need for social approval

Lack of empathy for point of view/feelings of others

Question 29

Features in the flexibility of thought/imagination in ASD patients?

Answer 29

Have ritualistic behaviour and routines (repetition)

Trouble with changes in environment and the concept of time

Question 30

Sensory issues in ASD?

Answer 30

Fussy with food and texture of clothing

Sleep, toilet-training, hair washing/cutting, nail cutting, noise abnormalities

Question 31

Points of consider in a history of developmental delay?

Answer 31

• Presenting complaint
• PMH, peri-natal and birth
• FH and SH
• Developmental
• Play and behaviour
• School/nursery

Question 32

Examination points in a child with developmental delay?

Answer 32

observations

Dysmorphism (difference of body structure, often with a very long face; this is more recognisable as the patient grows up)

Head circumference

Vision, hearing, CNS

Question 33

Ix of developmental delay?

Answer 33

Karyotyping, FRAX (for Fragile X syndrome), oligoarray CGH

Neonatal PKU (phenylketonuria), TFTs and CK

If indicated, consider MRI brain, EEG, metabolic studies, genetic consultation, etc

Question 34

How to assess development?

Answer 34

Use an appropriate assessment tool:
• Griffiths (0-8yrs)
• Bayleys (0-3yrs)
• Schedule of Growing Skills (0-5yrs)
• ADOS (ASD)

Question 35

Principles of intervention with developmental delay?

Answer 35

Aim for early intervention (physio, speech and language therapy, etc)