Head Circumference Measurement and Growth: Application to Neurodevelopment
Abstract
Whole brain volume and head size, estimated by the measurement of occipito-frontal circumference (OFC), have been implicated in a variety of developmental disorders. The goals of this chapter are to review the (a) relation of head growth to general neurodevelopment, (b) growth patterns in premature infants and relation to outcome, (c) overgrowth and its relation to neurodevelopmental disorders, and (d) relation between psychological syndromes and growth patterns. Additionally, this chapter (e) discusses head circumference size and growth in pathologic conditions, focusing on atypical development in overgrowth syndromes and pervasive developmental disorders such as autism. Last, this chapter (f) reviews some practical and technical issues involved in the use of head circumference data for clinical documentation and for research. In summary, increased HC and growth have been found to be associated with higher IQ in neurotypical populations. However, this relationship may more accurately be represented by a U-shaped function, with developmental disorders associated with high and low extremes. In addition, a number of genes have been found to be associated with macrocephaly, which may also contribute to developmental disabilities, including autism. Thus, head circumference may be a useful biological marker for assessing developmental risk and for stratification in genetic analysis.
Keywords
Autism Spectrum Disorder Intellectual Disability Head Circumference Pervasive Developmental Disorder Rett SyndromeAbbreviations
- ASD
Autism spectrum disorder
- CDC
Center for Disease Control
- CDKL5
Cyclin-dependent kinase-like 5
- DSM
Diagnostic and Statistical Manual of Mental Disorders
- FMR1
Fragile X mental retardation 1
- FMRP
Fragile X mental retardation protein
- FOXG1
Forkhead Box G1
- GFAP
Glial fibrillary acidic protein
- HC
Head circumference
- HOXA1
Homeobox A1
- IQ
Intelligence quotient
- MECP2
Methyl CpG binding protein 2
- mTOR
Mammalian target of rapamycin
- NF1
Neurofibromatosis 1
- NHANES
National Health and Nutrition Examination Survey
- NLC1
Narcolepsy candidate region gene 1a
- NSD1
Nuclear receptor binding set domain protein 1
- OFC
Orbitofrontal circumference
- OMIM
Online Mendelian Inheritance in Man; http://www.ncbi.nlm.nih.gov/omim
- P57(KIP2)
Cyclin-dependent kinase inhibitor 1c
- PI3K
Phosphatidylinositol 3-kinase
- ProSAP2 (SHANK3)
Proline-rich synapse-associated protein (Sh3 and multiple ankyrin repeat domains 3)
- PTEN
Phosphate and tensin homolog
- PTPN11
Protein-tyrosine phosphatase, nonreceptor type 11
- RCPCH
Royal College of Paediatrics and Child Health
- TSC1/TSC2
Tuberous sclerosis 1/2
Notes
Acknowledgments
The UW Autism Center of Excellence (NIH P50 HD055782; King/Webb), the Washington State Legislative Initiative: Developmental Disabilities Fellowship (Webb/Jensen) and NIH R42 DE01644 (Deutsch), NIH U24 MH081810 (Lajonchere), NIH P30 HD04147 (McIlvane; Core C: Deutsch), and the Simons Foundation (Deutsch) supported for writing this chapter. We thank all the families and scientists who contributed to the research cited in this review.
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