Abnormal Development Flashcards by Eilidh Selfridge

What is developmental delay

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

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List the patterns of abnormal development

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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Give examples of delayed development

Global - Down’s syndrome

Specific - Duchenne’s muscular dystrophy

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Give an example of deviated development

Autism Spectrum Disorder

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Give an example of regression in development

Rett’s Syndrome

Metabolic Disorders

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List the red flags for abnormal development

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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Describe global developmental delay

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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What mutation causes Down’s syndrome

Trisomy 21

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

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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Do children with global delay catch up with their peers?

Not usually - gap widens with age

Progress made by teenage years is usually the limit

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Give examples of specific developmental delays

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

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Describe the presentation of Duchenne Muscular Dystrophy

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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What is Gower’s manoeuvre

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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What are the 3 classes of cerebral palsy

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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What causes cerebral palsy

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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What conditions are associated with cerebral palsy

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

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List some developmental causes of hearing impairment

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

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What triad of skills are affected in autism

Communication
Social interaction
Flexibility of thought/ Imagination

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List communication skills symptoms of ASD

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

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

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

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

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

What sensory issues may be seen with ASDs

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

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

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

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

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

What investigations may be done for developmental delay

``` Chromosome tests Neonatal PKU Thyroid studies CK If indicated do MRI, metabolic studies etc ```

List the classifications of short stature

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

List physical conditions that commonly affect adolescents

Diabetes Epilepsy Asthma Inflammatory Bowel Disease

List common mental health conditions that commonly affect adolescents

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

List red flags for developmental delay in a 6 weeks old

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

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

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

List red flags for developmental delay in a 12 month old

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

List red flags for developmental delay in a 18 month old

``` Not walking Inability to understand simple commands No pointing No words No pincer grip ```

List red flags for developmental delay in a 2 year old

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

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

True

Of the 4 developmental domains, which is the most variable

Speech and language | Most sensitive to environmental factors too

When do children normally develop a hand preference

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

Early hand preference may be suggestive of what

Cerebral palsy

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

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

Delayed walking may be normal in which children

Those with a family history of late walking | Those who are bottom shufflers

Persistence of primitive reflexes can be a sign of what

An upper motor neurone abnormality | Re-attainment of primitive reflexes in later life are also suggestive of a neurological problem

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

False | Girls are typically quicker

Which investigations can be performed for developmental delay

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

Cerebral palsy is a progressive disorder - true or false

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

What is the most common inherited cause of learning disability

Fragile X | Leads to a global delay

How does fragile X present

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)

What causes fragile X syndrome

Genetic disorder | Caused by an expansion of triplet repeat on X chromosome