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Head Circumference Measurement and Growth: Application to Neurodevelopment

  • Sara Jane Webb
  • Allison Ruppel Shell
  • Jason Cuomo
  • Guy Jensen
  • Curtis K. Deutsch
Chapter
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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 Syndrome 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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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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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Copyright information

© Springer Science+Business Media, LLC 2012

Authors and Affiliations

  • Sara Jane Webb
    • 1
  • Allison Ruppel Shell
    • 2
  • Jason Cuomo
    • 2
    • 3
  • Guy Jensen
    • 1
  • Curtis K. Deutsch
    • 2
    • 3
  1. 1.Psychiatry and Behavioral SciencesUniversity of WashingtonSeattleUSA
  2. 2.Psychobiology ProgramEunice Kennedy Shriver CenterWalthamUSA
  3. 3.Harvard UniversityCambridgeUSA

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