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

Full 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.

Author information

Author/s: Sacco, Roberto (R); Militerni, Roberto (R); Frolli, Alessandro (A); Bravaccio, Carmela (C); Gritti, Antonella (A); Elia, Maurizio (M); Curatolo, Paolo (P); Manzi, Barbara (B); Trillo, Simona (S); Lenti, Carlo (C); Saccani, Monica (M); Schneider, Cindy (C); Melmed, Raun (R); Reichelt, Karl-Ludvig (KL); Pascucci, Tiziana (T); Puglisi-Allegra, Stefano (S); Persico, Antonio M (AM);

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

Journal and publication information

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal: Biological psychiatry (Biol Psychiatry), published in United States. (Language: eng)

Reference: 2007-Nov; vol 62 (issue 9) : pp 1038-47

Dates: Created 2007/10/22; Completed 2008/01/09;

PMID: 17644070, status: MEDLINE (last retrieval date: 2/18/2009, IMS Date: )

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