Abnormal Development Flashcards
What is developmental delay
Failure to attain appropriate developmental milestones for child’s corrected chronological age
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
Give examples of delayed development
Global - Down’s syndrome
Specific - Duchenne’s muscular dystrophy
Give an example of deviated development
Autism Spectrum Disorder
Give an example of regression in development
Rett’s Syndrome
Metabolic Disorders
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
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
What mutation causes Down’s syndrome
Trisomy 21
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
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
Give examples of specific developmental delays
Motor - DMD, cerebral palsy
Language - specific impairments
Sensory - Treacher Collins
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
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
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
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
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
List some developmental causes of hearing impairment
Treacher Collins - limited ear development
Glue ear - most common
Damage to the nerves
What triad of skills are affected in autism
Communication
Social interaction
Flexibility of thought/ Imagination
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 & 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
