GDD Flashcards
GDD is for what age group?
<5 (then becomes ID)
Reasons why it’s important to diagnose etioloyg of GDD
- Timely initiation of causal treatment or supportive management,
- Prevention of complications,
- Improved prognostication,
- Accurate genetic counselling regarding recurrence risk and prenatal/preimplantation genetic diagnosis, when indicated,
- Better access to services in the community, and
- Resolution of a diagnostic odyssey or (better still) avoidance of inappropriate, costly and traumatizing tests.
defintion of GDD?
Significant delay (at least 2 SDs below the mean with standardized tests) in at least two developmental domains from the following: Gross or fine motor Speech/language Cognition Social/personal Activities of daily living Get Strong Coffee And Sugar
3 criteria for ID
- defs in intellectual functioning, including reasoning, etc confirmed by clinical assessment adn individualized standardized intelligence testing
- defs in adaptive funcitoning–> failrue to meet dev and socio-cultural standards for personal independence and social responsibility–> limit functioning in daily life
- onset of intellectual and adaptive defs during dev period
8 causes of GDD?
genetic CNS malformation metabolic teratogen/toxin prentally prenatal infection perinatal asphyxia prem neonatal complications neglect/pscyhosocial envir postnatal infections postnatal trauma
which category = most common cause of GDD
perinatal (asphyxia, premat, neonatal complciations)…fewest= postnatal
4 things to do before blood work for possible GDD?
Hx, physical Audiology Ophtho/optometry EEG (if suspect sz) *AND OF COURSE REFER TO REHAB SERVICES
if suspect cause of GDD after prelim work, do what?
confirmatory testing only
if suspect GDD but no clear etiology, do what tests? (5)
“Tests For Children Much Behind”
- chrom microarray
- Fragile x
- Brain MRI if abN neuro exam, sz, abN head size
- Consider MECP2 for Rett Syndrome in girls who are mod to severe
- Tier 1 investigation
If first invesitgationis for GDD don’t help do what
Brain MRI, Consult genetics/metab, Consult Neuro
Next Generation Much Behind
GDD: fam hx questions (5):
Three-generations review, looking for:
Recurrent miscarriages Birth defects Infant deaths GDD/ID Neurologic conditions Genetic conditions Ethnic background Consanguinity
GDD: P/E items (5)
Growth parameters Head shape Fontanelle Cutaneous stigmata Spine Heart abnormalities Abdomen check for organomegaly Limb abnormalities Genital abnormalities
GDD: Psychosocial hx items (3)
Parent language, education, employment
Parental drug/alcohol abuse
Child care arrangements
History of abuse or neglect and involvement of child protective services
Neurodev exam items for GDD (3)
Neurological exam
Congenital abnormalities
Dysmorphic features
Current developmental level
Prental hx qs for GDD (4)
Prenatal ultrasound Screening for fetal aneuploidy Maternal diabetes or hypertension Infections Exposure to medications or toxins
Birth hx qs for GDD (3)
Weight and height
Head circumference
Apgar score
Length of hospitalization
Dev qs for GDD (2)
Developmental milestones
Regression or lack of milestones
Timing of parents’ first concern
10 red flags for IEM
Family history of IEM or developmental disorder or unexplained neonatal or sudden infant death
Consanguinity
Intrauterine growth retardation
Failure to thrive
Head circumference or stature growth abnormality (>2 SD above or under the mean)
Recurrent episodes of vomiting, ataxia, seizures, lethargy, coma
History of being severely symptomatic and needing longer to recover with benign illnesses (e.g., upper respiratory tract infection)
Unusual dietary preferences (e.g., protein or carbohydrate aversion)
Regression in developmental milestones
Behavioural or psychiatric problems (e.g., psychosis at a young age)
Movement disorder (e.g., dystonia)
Facial dysmorphism (e.g., coarse facial features)
Organomegaly
Severe hypotonia
Congenital nonfacial anomalies
Sensory deficits, especially if progressive (e.g., cataracts, retinopathy)
Noncongenital progressive spine deformities
Neuro-imaging abnormalities
Perform Tier 1 tests after 4-8 h of fasting for IEM.
Give 10 tests
Blood* Complete blood count Glucose Blood gas Urea, creatinine Electrolytes (to calculate anion gap) AST, ALT TSH Creatine kinase Ammonia Lactate Amino acids Acylcarnitine profile, carnitine (free and total) Homocysteine Copper, ceruloplasmin** Biotinidase*** Ferritin, vitamin B12 when dietary restriction or pica are present Lead level when risk factors for exposure are present
Urine Organic acids Creatine metabolites Purines, pyrimidines Glycosaminoglycans
best test?
hx and physical!…..also eval by experienced clinician>microarray
easier to detect cause in mild or severe GDD?
severe
