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.
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Abbreviations
- 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
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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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Webb, S.J., Shell, A.R., Cuomo, J., Jensen, G., Deutsch, C.K. (2012). Head Circumference Measurement and Growth: Application to Neurodevelopment. In: Preedy, V. (eds) Handbook of Growth and Growth Monitoring in Health and Disease. Springer, New York, NY. https://doi.org/10.1007/978-1-4419-1795-9_179
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