abnormal development
#ir #peds
- ABNORMAL
- What are 5 RFs for developmental delay?
- FHx, ↓BW, premature, multiple birth, perinatal infection, teratogens, poor nutrition (maternal/child), neglect
- ASD case given: what is DDx? What referrals would you make?
- Dx (clinical): 1) deficits in social communication + interaction 2) restricted, repetitive patterns of behaviour/interests/activities
- DDx: Down syndrome, Fragile X, Angelman, Tuberous sclerosis, untreated PKU
- Referral: audiology, SLP, OT, behaviours (Erin Oak IBI), social skills training
- What are 3 problem areas for children who are autistic? What is the Tx?
- Problems: impaired social functioning, impaired communication skills, impaired adaptive skills, nonfunctional/negative behaviours
- Tx: early, multidisciplinary intervention, structured learning, SLP, OT, behaviour management, meds (self-injurious/aggressive behaviour), social/vocational training
- Young ♂ comes to you. Has long face, protuberant ears. On Hx, revealed that there is mental retardation in ♂ + ♀ in the FHx. What is the Dx?
- Young ♀ appears dysmorphic at 4mo follow up: large fontanelle, epicentral folds, tongue held sticking out, general hypotonia, simian crease, large broad hands etc. Pick from a list of 8 things you would do to confirm diagnosis and do anticipatory guidance.
- Dx (Down): 22q11 analysis, FISH for chromosome 21, karyotype, G-banding
- Ix (AAP): TSH, renal U/S, echo, CT head, CBC and Diff, genetic counselling, atlanto-occipital x-ray at 2 yr, sleep study, hearing test, ophthalmology
- Anticipatory guidance: relationships/social/behavioural, recurrence, early intervention, CAM, cervical spine, dentition, myopathy, atlantoaxial instability, audiology/ophthalmology, OSA, celiac
- Newborn brought in by her 42yo ♂ with Down syndrome.
- 4 clinical findings: upslanting palebral fissures, epicanthic folds, brachycephaly > flat facial profile/bridge, hypotonia
- 3 Ix: See above
- Mom concerned about the risk of malignancy, so counsel her about the risk as a newborn and as an older child: newborn (transient myeloproliferative d/o), older (↑risk leukemia/testicular cancer, ↓risk solid mass tumours)
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