Abnormal Development

Question 1

When does abnormal motor development usually present?

Answer 1

will usually present between 3 months and 2 years, as this is the period of most rapid motor skill acquisition
- Delayed milestones and early hand dominance (asymmetry of motor skills before 18 months) are indications that there may be an underlying motor disorder

Question 2

Common causes of motor delay

Answer 2

Delay in motor acquisition is most commonly a simple variation of normal, and is often familial delayed motor maturation

Question 3

Rarer causes of motor delay

Answer 3

• Abnormalities in muscle tone and power
• Central motor deficit e.g. cerebral palsy
• Congenital myopathy/ primary muscle disease e.g. muscular dystrophy
• Spinal cord lesions e.g. spina bifida
• Environmental factors e.g. malnutrition, rickets, post-natal infection/trauma

Question 4

Red Flags with Motor Delay

Answer 4

• Poor head control or floppiness at 6 months
• Unable to sit unsupported at 9 months
• Not weight bearing through legs at 12 months
• Not walking at 18 months
• Not running at 2 years, or persistent toe walking

Question 5

Examination if suspected motor delay

Answer 5

Examination is mostly neurological including tone, reflexes and plantar response. There should also be an attempt to get the child to walk, assessing standing and weight bearing

Question 6

What is developmental delay

Answer 6

• Delay is a slow acquisition of skills

Question 7

What is developmental disorder

Answer 7

• Disorder is a maldevelopment of a skill

Question 8

What is global developmental delay mean?

Answer 8

implies delay in acquisition of all skill fields, usually becoming apparent within the first 2 years of life
- This is likely to be associated with cognitive difficulty in later life

Question 9

Prenatal Causes of Global Developmental Delay

Answer 9

Genetic: Down’s, fragile X
Neurological: Microencephaly, migration disorder, neurocutaneous syndromes
Vascular: Haemorrhage
Metabolic: Hypothyroidism, PKU
Teratogenic: Alcohol, drugs
Congenital Infection: Rubella, CMV, HIV, toxoplasmosis

Question 10

Perinatal causes of global developmental delay

Answer 10

Extreme prematurity: Periventricular haemorrhage
Birth asphyxia: HIE
Metabolic: Hypoglycaemia, kernicterus

Question 11

Postnatal causes of global developmental delay

Answer 11

Infection: Meningitis, encephalitis
Anoxia: Suffocation, near drowning, seizures
Trauma: Head trauma
Metabolic: Hypoglycaemia
Vascular: Stroke

Question 12

Investigation into global developmental delay

Answer 12

• Blood tests: routine (FBC, U&Es, LFTs), metabolic blood tests (TFTs, bone profile), genetic and chromosomal analysis, congenital infection screen
• Imaging: cranial USS, CT/MRI brain scans
• Other: EEG, muscle biopsy

Question 13

When will delayed speech present?

Answer 13

Abnormal speech and language development will usually present between 2 – 4 years. Delayed speech may simply be primary speech and language delay, this can sometimes need active intervention to improve speech but is generally self-limiting

Question 14

Secondary causes of speech delay that may require further investigation

Answer 14

• Articulation difficulties e.g. cleft lip, tongue-tie, neurological disease (CP, DMD)
• Deafness
• Environmental deprivation and neglect
• Communication difficulties e.g. autism

Question 15

Red Flags with Speech

Answer 15

• No double syllable babble at 1 year
• <6 words or persistent drooling at 18 months
• No 2 – 3 word sentences by 2.5 years
• Speech remains unintelligible to strangers by 4 years

Question 16

What should children with speech delay be assessed for?

Answer 16

It is important for children with delayed speech to perform a thorough assessment of hearing. The symbolic toy test and Reynell test can be used to assess language development in very young and preschool children respectively

Question 17

What are autism spectrum disorders?

Answer 17

Autistic spectrum disorders (pervasive developmental disorders) are neurodevelopmental conditions characterised by the following 3 features

• Abnormalities in reciprocal social interactions
• Speech and language disorder
• Restricted, stereotyped, repetitive behaviour, interests and activities

Question 18

Asperger’s Syndrome

Answer 18

Children with Asperger’s syndrome have mild social impairments but near-normal speech and language.

Question 19

ASD Diagnosis: Reciprocal Social Interaction

Answer 19

Failure to use eye-to-eye gaze, facial expression, lack of gestures
Lack of relationships with peers
Inappropriate lack of response to other people’s emotions
Lack of interest to share hobbies, achievements or emotions
Poor understanding of humour

Question 20

ASD Diagnosis: Communication

Answer 20

Delay in spoken language
Difficulty initiating or sustaining conversation
Odd intonation, inappropriate volume of speech
Echolalia
Idiosyncratic use of words or phrases

Question 21

ASD Diagnosis: Behaviour, interests and activities

Answer 21

Preoccupation with at least one pattern of interest
Compulsive adherence to rituals and routine, violent tantrums if disrupted
Concrete play with poverty of imagination
Unusual movements e.g. tiptoe gait, hand flapping, spinning

Question 22

Clinical Presentations of ASD

Answer 22

• As a baby there may be little interaction with mother, poor feeding, and limited speech/motor development

Question 23

Management of ASD

Answer 23

There are many aspects to the management of autism, but the most important is behavioural modification e.g. applied behavioural analysis (ABA), which helps with development of language skills and reduces difficult behaviours
- This requires ~30 hours of individual therapy per week, and does not increase the likelihood of independent functioning in adulthood

Question 24

Hearing Impairment

Answer 24

• From birth the child should startle at sudden noise
• By 1 month they should notice sudden prolonged sounds
• By 4 months they should quieten and notice the sound of their mother’s voice, and may turn to sound
• By 7 months they should turn to noises across the room
• By 9 months they should listen attentively to everyday sounds, and quiet sounds out of sight
• By 12 months they should be recognising familiar words

Question 25

What investigations are needed to assess hearing loss in children

Answer 25

• 0 – 12 months: otoacoustic emissions (an earphone produces a sound, which leads to an echo if the cochlea is normal) or auditory brainstem response (EEG to auditory stimuli)
• 7 – 18 months: distraction testing (the baby locating and turning towards sounds)
• 18 – 30 months: cooperation testing (the baby is rewarded for turning towards sound with e.g. a toy)
• 3 – 5 years: pure tone audiometry, as in adults

Question 26

Sensorineural Hearing Loss in Children

Answer 26

Sensorineural loss is largely genetic. However, some peri-/postnatal factors can cause it e.g. hypoxia, prematurity, hyperbilirubinaemia, meningitis
o Amplification of sound with hearing aids or cochlear implants is beneficial in most
o This is less common, and cannot usually be reversed

Question 27

Conductive Hearing Loss in Children

Answer 27

• Conductive hearing loss is much more likely to be acquired e.g. otitis media with effusion, Eustachian tube dysfunction
  o Treatment is usually conservative. If there is no improvement, amplification or surgery can be used
  o This is more common, and usually reversible
  o Certain syndromes predispose to Eustachian tube dysfunction and conductive hearing loss e.g. Down syndrome, cleft palate, Pierre Robin sequence, mid-facial hypoplasia