Developmental delay and disability Flashcards
Define impairment, disability and handicap [3]
Impairment: any loss or abnormality of psychological, physiological or anatomical structure or function. ( e.g. paralysis of the legs)
Disability: any restriction or lack (resulting from impairment) of ability to perform an activity in the manner or within the range considered normal for a human being. (e.g. Inability to walk)
Handicap: the impact of the impairment or disability on the person’s pursuit or achievement of the goals which are desired by him/her or expected of him/her by society. (e.g. unable to work in a job that requires mobility)
How may a disablilty be detected? [4]
screening programmes
routine reviews
parental concerns
concerns of others e.g. friends, nursery, school
Label A-D
What do you need to take into account when assessing disablity and developmental delay in pre-term children? [1]
Preterm birth: need to ensure have a corrected age vs chronological age for developmental purposes up to 2yrs age
(e.g. Born at 28/40weeks at 1 year age is actually like a 9month old developmentally)
What do you assess disablity and developmental delay assessment? [3]
History
* Birth history
* Past medical history
* Drug history
* Family history
Examination
Developmental assessment
Which developmental areas do you assess in an assessment? [5]
- Gross motor
- Fine motor
- Vision
- Hearing
- Speech: Expressive/Receptive/Gestular
- Social
What is the difference between isolated and global developmental delay? [2]
Isolated
Only 1 developmental aspect affected
Global
Two or more developmental areas affected
What link is there between Measles, Mumps and Rubella vaccination and Autism?
NONE
What grief reactions may occur from parents of a newly diagnosed child? [3]
loss of the normal child – attachment to a ‘normal’ child is endangered
loss of expected normal parenting role
loss of anticipated independent adult
FYI: What parents feel after diagnosis
- shock, disbelief, sometimes relief
- rejection, over-protection
- grief, loss of a “perfect” child with learning over time exactly what has been lost
- anger against God, health professionals, child
- guilt – was it something I did?
- embarrassment, stigma
- fear – of the unknown, of not being able to cope, financial implications
- need to seek second/third/fourth opinions
- chronic sorrow and depression
- acceptance
How would you diagnose a suspected Down’s syndrome patient? [2]
Fluorescence in situ hybridization (FISH) may be used for rapid diagnosis of trisomy 21 (prenatal diagnosis and postnatal confirmation)
Does not provide information about whether trisomy 21 is secondary to a translocation. Therefore, a FISH test must be confirmed by a complete karyotype analysis
Explain the tests you would conduct for a newly diagnosed Downs Syndrome baby and why [4]
Cardiac assessment (echocardiogram): Between 40 and 60% of babies with Down syndrome have congenital heart defects
Hearing tests: sensorineural hearing loss identified at newborn hearing screening in children with Down syndrome is higher than in the general population at 4-6%.
Ophthalmology: increase in congenital cataract AND infantile glaucoma
Ensure feeding established and no vomiting: congenital malformations of their gastrointestinal tract
Specifically, what type of congenital heart defects do Downs Syndrome children have an increased risk of? [1]
atrioventricular septal defects (AVSD)
What / who is the MDT Follow-up given to disability child? [5]
- Therapy according to needs (physio, SLT, psychology)
- Medical follow-up according to complications (eg cardiology, endocrine)
- Ophthalmology
- Audiology
- Community Paediatrics at least annually
*
If suspect a speech delay, what test is particularly important? [1]
Hearing test
