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Child Health > Abnormal Development > Flashcards

Abnormal Development Flashcards

1
Q

What is developmental delay

A

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

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2
Q

List the patterns of abnormal development

A

Delay - global or specific
-do achieve milestones but at a slower rate

Deviation - not on normal pathway (may not acquire skill or will do it differently)

Regression -acquire skill then lose them

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3
Q

Give examples of delayed development

A

Global - Down’s syndrome

Specific - Duchenne’s muscular dystrophy

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4
Q

Give an example of deviated development

A

Autism Spectrum Disorder

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5
Q

Give an example of regression in development

A

Rett’s Syndrome

Metabolic Disorders

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6
Q

List the red flags for abnormal development

A 
Asymmetry of movement, power or tone
Concerns re vision or hearing - lack of response to stimuli
Loss of skills - regression 
OFC >98th or <0.4th centiles or rapid change in OFC
Squint
No, or limited, eye contact
Marked hyper- or hypotonia
Strong parental concerns
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7
Q

Describe global developmental delay

A

Significant delay in 2 or more of the key development areas
Genetic causes account for 5-25%
Includes Down’s Syndrome

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8
Q

What mutation causes Down’s syndrome

A

Trisomy 21

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9
Q

What screening tests must be performed in children with Down’s syndrome

A 
Cardiac - 40% will have CHD 
Vision 
Hearing - head anatomy can cause probelems 
Thyroid function - underactive common 
Sleep apnoea test 
Growth charts - different 
Development monitoring
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10
Q

Do children with global delay catch up with their peers?

A

Not usually - gap widens with age

Progress made by teenage years is usually the limit

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11
Q

Give examples of specific developmental delays

A

Motor - DMD, cerebral palsy
Language - specific impairments
Sensory - Treacher Collins

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12
Q

Describe the presentation of Duchenne Muscular Dystrophy

A

X linked condition
Causes weakness in the muscles of the pelvic girdle
Compensates with lordosis of lower back
Pseudo hypertrophy of calf muscles – looks strong/big but actually just replaced with fibrous tissue
Weakness is progressive and the boys will end up in wheelchairs and may have CV and resp disorders

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13
Q

What is Gower’s manoeuvre

A

Person will walk their hands up their legs in order to reach standing
Seen in DMD to compensate for the weakened pelvic muscles

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14
Q

What are the 3 classes of cerebral palsy

A

Hemiplegic - arm and leg on one side affected
Diplegic - mainly both legs affected (common if preterm)
Quadriplegic - all limbs affected
- associated with largest amount of brain damage

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15
Q

What causes cerebral palsy

A

Can occur in pre-term babies
Most commonly caused by some problem whilst in the womb - often interruption of blood supply
Traumatic birth - rare
Trauma in pregnancy

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16
Q

What conditions are associated with cerebral palsy

A 
Mobility problems, spasticity and orthopaedic problems
Learning difficulties
Epilepsy
Visual/Hearing impairment
Communication difficulties
Feeding difficulties
Sleep problems
Behaviour problem
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17
Q

List some developmental causes of hearing impairment

A

Treacher Collins - limited ear development
Glue ear - most common
Damage to the nerves

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18
Q

What triad of skills are affected in autism

A

Communication
Social interaction
Flexibility of thought/ Imagination

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19
Q

List communication skills symptoms of ASD

A

Receptive language is delayed and lags behind expressive
Struggles with abstract language and emotions
May speak with odd intonation/pitch
Echo others - don’t necessarily understand
Can learn huge chunks of dialogue
Struggle with non-verbal cues and eye contact
Have limited interests and don’t reciprocate in conversation

20
Q

What areas of social interaction may an autistic person have difficulty with

A 
Turn taking 
Sharing pleasure 
Empathy 
Social norms/rules 
empathy 
relationships 
No need for social approval 
Others point of view
21
Q

How might someone with an ASD have difficulty with flexibility if thought

A 
Struggle with figures of speech 
Need routines 
Concept of time 
Changes in environment or task 
May exhibit ritualistic behaviour 
Theory of mind - Unable to understand that people have different beliefs/ideas
22
Q

What sensory issues may be seen with ASDs

A 
Can be over or under sensitive 
Fussy eating 
Textures of clothes 
Sleep problems 
Toilet training 
Hair washing/cutting 
Noise - often okay if they are making the noise (in control) but struggle in noisy environments
23
Q

What do you need to cover in the history if developmental problems are suspected

A 
Concerns – presenting complaint
Past Medical History
Perinatal and Birth - ask about pregnancy 
Family &amp; Social
Developmental
Play and Behaviour
School/Nursery
24
Q

What do you need to cover in the examination if developmental problems are suspected

A 
Observation
Dysmorphism
Head Circumference - must measure not assume 
Systems
CNS inc neurocutaneous
Vision
Hearing
25
Q

What investigations may be done for developmental delay

A 
Chromosome tests
Neonatal PKU 
Thyroid studies 
CK 
If indicated do MRI, metabolic studies etc
26
Q

List the classifications of short stature

A

Genetic short stature - healthy but inherited small height from parents
Constitutional growth delay- – late maturation causing short stature, often catch up
Dysmorphic syndromes - e.g. Down’s
Endocrine disorders - thyroid, GH and pituitary
Chronic diseases
Psychosocial deprivation

27
Q

List physical conditions that commonly affect adolescents

A

Diabetes
Epilepsy
Asthma
Inflammatory Bowel Disease

28
Q

List common mental health conditions that commonly affect adolescents

A

Eating disorders
Mental Illness – depression, anxiety, psychosis
Pre-existing conditions
Chronic fatigue

29
Q

List red flags for developmental delay in a 6 weeks old

A 
No visual fixation or following  - always refer
Failure to respond to sound
Asymmetrical neonatal reflexes
Excessive head leg
Failure to smile
30
Q

List red flags for developmental delay in a 6-8 month old

A 
Hand preference, fisting
Squint, not reaching
Persistence of primitive reflexes
Floppy and poor head control
Lack social response/ vocalisation
31
Q

List red flags for developmental delay in a 12 month old

A 
Unable to sit or bear weight 
Absence of saving reactions
Persistence of hand regard
Poor communication
No  babble
32
Q

List red flags for developmental delay in a 18 month old

A 
Not walking 
Inability to understand simple commands
No pointing
No words
No pincer grip
33
Q

List red flags for developmental delay in a 2 year old

A

Not running
Can’t follow a 2 step command
Unable to speak 2-3 words together

34
Q

If there is delay in more than one domain it is more likely to be significant - true or false

A

True

35
Q

Of the 4 developmental domains, which is the most variable

A

Speech and language

Most sensitive to environmental factors too

36
Q

When do children normally develop a hand preference

A

Usually between 2-4 years, although it is often not established until 5 or 6 years

37
Q

Early hand preference may be suggestive of what

A

Cerebral palsy

38
Q

A child who has not started walking at 18 months should have which investigations

A

Should be screened for muscular dystrophy = initially by bloods including a CK

39
Q

Delayed walking may be normal in which children

A

Those with a family history of late walking

Those who are bottom shufflers

40
Q

Persistence of primitive reflexes can be a sign of what

A

An upper motor neurone abnormality

Re-attainment of primitive reflexes in later life are also suggestive of a neurological problem

41
Q

Boys tend to develop speech and language quicker than girls - true or false

A

False

Girls are typically quicker

42
Q

Which investigations can be performed for developmental delay

A

Obviously depends on suspected cause
Creatine Kinase test (picks up things like DMD)
Hip x-rays
Hearing tests if speech and language delay
TFTs - can cause significant delays
Nutritional screens - b12, folate, vit D
MRI brain - if neuro signs or measuring very small
Metabolic studies

43
Q

Cerebral palsy is a progressive disorder - true or false

A

False
It is non-progressive - brain lesion will not change
Symptoms can change if treatment isn’t followed -e.g. More stiff if they don’t do physio but this is a muscle issue not brain

44
Q

What is the most common inherited cause of learning disability

A

Fragile X

Leads to a global delay

45
Q

How does fragile X present

A

Global delay
Significant speech and language - echolalia and perseveration (get stuck on a single topic)
Autistic and ADHD type behaviour
Often great visual learners, great memory and imitating skills
Prominent forehead, long thin face, large prominent areas, dental overcrowding, pectus excavatum, hypermobility, large testicles
Dysmorphia becomes more obvious in puberty
Medical issues, poor sleep pattern, enuresis (day time wetting)

46
Q

What causes fragile X syndrome

A

Genetic disorder

Caused by an expansion of triplet repeat on X chromosome

Child Health (14 decks)

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