Encyclopedia of Autism Spectrum Disorders

Living Edition
| Editors: Fred R. Volkmar

Macrocephaly Phenotype and Psychiatric Comorbidity in Autism Spectrum Disorder

Living reference work entry
DOI: https://doi.org/10.1007/978-1-4614-6435-8_102370-1


Macrocephaly is defined as a measurement of the head circumference which is 2 standard deviations (SDs) larger than the mean for a given age and sex (Bray et al. 1969). It is also known as occipitofrontal circumference (OFC), and it denotes the size of the cranium. It is different from megalencephaly, which is defined as increase in the size of the brain parenchyma exceeding twice the standard deviation (Fletcher 1900). Megalencephaly and macrocephaly may coexist in the same individual (Gooskens et al. 1988).

Macrocephaly can be idiopathic, familial, and benign. However, it can be the first indication of autism. In contrast megalencephaly is more often syndromic (Tan et al. 2018).

Evidence shows that the head size correlates with the whole brain volume and weight (Aylward et al. 2002), but it is not caused by hydrocephalus (Filipek et al. 1992; Piven et al. 1995).

The head circumference is a useful index of brain size in children, and it is measured along the most prominent...

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Authors and Affiliations

  1. 1.Research in Genetic, Clinical and Community EpidemiologyHospital Psiquiátrico Infantil Dr. Juan N. NavarroMéxico CityMexico
  2. 2.Yale University Child Study Center, School of MedicineNew HavenUSA