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Head Circumference Measurement and Growth: Application to Neurodevelopment

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Handbook of Growth and Growth Monitoring in Health and Disease

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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