Week 1 - F - Approach to child with developmental delay Flashcards
What is developmental delay defined as?
Failure to attain appropriate developmental milestones for child’s corrected chronological age.
What is the syndrome affecting the MECP2 gene, which is found on the X chromosome that affects brain development, resulting in severe mental and physical disability?
Rett syndrome
What type of developmental delay is Rett syndrome?
Regressional delay - loss of acquired skills
What percentage of the UK child population have autism spectrum disorder?
1%
What are the characteristics of the autism spectrum disorder?
Impaired social interaction
Impaired language and communication skills
Impaired imagination - rigidity of thinking
Ongoing social problems that include difficulty communicating and interacting with others.
Red flags for development include Asymmetry of movement Not reaching for objects by 6 months Unable to sit unsupported by 12 months
What test should be carried out if the child is unable to walk by what period?
Measure CK (creatinine kinase if child is unable to walk by 18 months)
What are the red flags for development?
Asymmetry of movement
Not reaching for objects at 6 months
Unable to sit unsupported by 12 months
Unable to walk by 18 months - measure CK
Global developmental delay affects 1-3% of children under 5years of age
What are the most common causes of global developmental delay?
Down’s syndrome
Fragile X syndrome
What are the criteria for GDD (global developmental delay)?
Significant delay in 2 or more of:
Gross motor
Fine motor and vision
Language and hearing
Social skills and play
Below which IQ shows a learning disability?
IQ below 70
What IQ does an individual require for profound learning disability?
IQ below 20
Global developmental delays are seen in 2+ more of the categories for developmental Specific developmental delays are due to a delay in 2 or less categories What are examples of motor delay? (gross and fine)
Duchenne muscular dystrophy
Cerebral palsy
What is the sign that indicates weakness in the proximal muscles (namely that of the lower limbs) where a child requries the use of his hands to ‘walk’ up theri own body from a squatting position to standing? What disorder is this seen in?
Gower’s manoeuvre (sign)
Seen in duchenne muscular dystrophy
Types of spastic Cerebral Palsy (Limb involvement)
Monoplegia (1 limb affected)
Hemiplegia ( one side of body is affected, arms are usually more affected than legs)
Paraplegia (both legs affected)
Diplegia (all 4 limbs are affected but legs are more severely affected)
Quadriplegia (all 4 limbs are affected)
What are some assoicated problems with cerebral palsy?
Vision/hearing impairment
Epilepsy
Communication difficulties
Mobility problems eg spasticity
Cerebral Visual Impairment Society - CVI Society Cerebral Visual Impairment (commonly referred to as CVI) is a form of visual impairment caused by the brain not being able to process information from the eyes passing along the visual pathways in the brain. It is the commonest cause of visual impairment in children in the developed world.
What two conditions are often associated with CVI?
Hydrocephalus and cerebral palsy
What is the autistic triad?
Communication
Social interactiion
Flexibility of thought/imagination
What is the category of deveopmental delay in autism spectrum disorder (ASD) (clue - not gobal, specific or regression)?
Developmental deviation
What is the 4 step approach to developmental delay?
History
Exam
Investigations
Assessments
What sort of things do you look for on examination?
Head Circumference
Systems
Vision
Hearing
What is dysmorphism? What is the dysmorphic feature in skin colouration in NF1?
A dysmorphic feature is a difference of body structure.
In NF1 - cafe-au-lait macules
What is this?
Down syndrome
Base Conclusions on
- History
- Examination
- Investigations
- Multi-disciplinary assessment
