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Biol Psychiatry. 2007 Nov 1;62(9):1038-47. Epub 2007 Jul 20.

Clinical, morphological, and biochemical correlates of head circumference in autism.

Author information

1
Laboratory of Molecular Psychiatry and Neurogenetics, University Campus Bio-Medico, and I.R.C.C.S. Fondazione Santa Lucia, Rome, Italy.

Abstract

BACKGROUND:

Head growth rates are often accelerated in autism. This study is aimed at defining the clinical, morphological, and biochemical correlates of head circumference in autistic patients.

METHODS:

Fronto-occipital head circumference was measured in 241 nonsyndromic autistic patients, 3 to 16 years old, diagnosed according to DSM-IV criteria. We assessed 1) clinical parameters using the Autism Diagnostic Observation Schedule, Autism Diagnostic Interview-Revised, Vineland Adaptive Behavioral Scales, intelligence quotient measures, and an ad hoc clinical history questionnaire; 2) height and weight; 3) serotonin (5-HT) blood levels and peptiduria.

RESULTS:

The distribution of cranial circumference is significantly skewed toward larger head sizes (p < .00001). Macrocephaly (i.e., head circumference >97th percentile) is generally part of a broader macrosomic endophenotype, characterized by highly significant correlations between head circumference, weight, and height (p < .001). A head circumference >75th percentile is associated with more impaired adaptive behaviors and with less impairment in IQ measures and motor and verbal language development. Surprisingly, larger head sizes are significantly associated with a positive history of allergic/immune disorders both in the patient and in his/her first-degree relatives.

CONCLUSIONS:

Our study demonstrates the existence of a macrosomic endophenotype in autism and points toward pathogenetic links with immune dysfunctions that we speculate either lead to or are associated with increased cell cycle progression and/or decreased apoptosis.

PMID:
17644070
DOI:
10.1016/j.biopsych.2007.04.039
[Indexed for MEDLINE]

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