Developmental Delay
aka Community Paediatrics
Static
Regression
Audiology
Vision Assessment
Global developmental delay
Static
- Learning disorder
Regression
- Neurodegenerative
- Metabolic
Audiology
Vision Assessment
Global developmental delay
- <5yo
- failure to meet expected developmental milestones in several areas of intellectual functioning
- >5yo
- Chromasomal
- Trisomy 21, 18, 13
- Kleinfelters XXY
- Wolf–Hirschhorn syndrome (del(4p16.3)
- Deletion 1p36
- Genetic
- Rett (girls, develop normally, then loss of speech, loss of purposeful hand use, onset of stereotypic hand movement, gait abnormalities)
- Fragile X (FMR1 gene) boys severe, girls milder, long thin face, prominent chin, large ears, large gonads
- Prader-Willi (paternal 15q11del): neonatal hypotonia, gonadal hypoplasia, obesity,
- Angelman (maternal 15q11del): microcephaly, GDD, tremor, ataxia
- Menke's Disease (X-linked): copper deficiency > GDD, seizures and brittle hair > stubble
- Joubert: AD, cerebellar vermis hypoplasia, ataxia, GDD,
- Cohen: GDD, hypotonia, microcephaly, autism, neutropenia, obesity
- Brain embryology
- lissencephaly
- hydrocephaly
- Craniosynostosis
- Inborn errors of metabolism / neurodegenerative
- See excel sheet
- ToRCHS (Toxo, Rubella, Cmv, Hsv, Syphilis), HIV
- Perinatal
- HIE, IVH, PVL
- Fetal alcohol syndrome
- Postnatal
- Hypothyroid
- Trauma
- Meningitis
- Nutrition
- B12 deficiency
- CP