Clinical, morphological, and biochemical correlates of head circumference in autism. |
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Authors: | Roberto Sacco Roberto Militerni Alessandro Frolli Carmela Bravaccio Antonella Gritti Maurizio Elia Paolo Curatolo Barbara Manzi Simona Trillo Carlo Lenti Monica Saccani Cindy Schneider Raun Melmed Karl-Ludvig Reichelt Tiziana Pascucci Stefano Puglisi-Allegra Antonio M Persico |
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Affiliation: | Laboratory of Molecular Psychiatry and Neurogenetics, University Campus Bio-Medico, and I.R.C.C.S. Fondazione Santa Lucia, Rome, Italy. |
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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. |
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Keywords: | Autistic disorder cranial circumference immune system macrocephaly macrosomy microcephaly |
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