Article

Macrocephaly in Children With Autism Spectrum Disorders

Department of Educational Psychology, Baylor University, Waco, Texas 76798, USA.
Pediatric Neurology (Impact Factor: 1.5). 02/2011; 44(2):97-100. DOI: 10.1016/j.pediatrneurol.2010.09.011
Source: PubMed

ABSTRACT Research indicates the presence of macrocephaly or abnormally large head circumferences in children with autism and spectrum-related disorders, compared with their typically developing peers. Previous research, however, centered on non-nationally representative, clinic-based samples of children and adults with autism spectrum disorders. Moreover, these samples were typically small. The present study represents results of a nationally representative, community-based sample of children with and without autism spectrum disorders, derived from the Early Childhood Longitudinal Study Birth Cohort. Results reveal statistically nonsignificant differences in the head circumferences of children with autism spectrum disorders across three time points, compared with children without autism spectrum disorders. These results may be considered highly generalizable, because they are derived from a nationally representative, community-based sample of children with and without autism spectrum disorders from the Early Childhood Longitudinal Study Birth Cohort.

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    • "In addition, it has been often attributed to PTEN mutations or syndromes such as Cowden, Bannayan-Riley-Ruvalcaba (McBride et al. 2010), Sotos or Cole Hughes (Naqvi et al. 2000). More recent studies largely question the actual role of macrocephaly in autism, reporting non significant differences in the HC of children with ASD compared to their peers without ASD (Barnard-Brak et al. 2011). Another common comorbidity is epilepsy, which is, additionally, a leading cause of poor prognosis and early death in ASD (Mouridsen et al. 2008). "
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    ABSTRACT: The purpose of this study is to describe clinical and laboratory data, as well as comorbid disorders in Greek children with autism spectrum disorders (ASD). Data were retrospectively collected for 222 children aged 1.5-9 years. The mean age at diagnosis was 43.7 ± 17.6 months. Significantly earlier diagnoses were noted in children with comorbid disorders (epilepsy, hearing deficits, genetic/metabolic disorders), mental retardation and a large head circumference (HC). Macrocephaly (HC ≥ 97th percentile) was found in 21.2% of children, genetic and metabolic disorders in 11.7% and 2.7% respectively and mental retardation in 23%. Patients with certain clinical features (i.e. syndromic) are earlier diagnosed. It is of ultimate importance to promptly identify all children with ASD, probably through the appliance of screening and surveillance programs in the Greek population.
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    • "In addition, it has been often attributed to PTEN mutations or syndromes such as Cowden, Bannayan-Riley-Ruvalcaba (McBride et al. 2010), Sotos or Cole Hughes (Naqvi et al. 2000). More recent studies largely question the actual role of macrocephaly in autism, reporting non significant differences in the HC of children with ASD compared to their peers without ASD (Barnard-Brak et al. 2011). Another common comorbidity is epilepsy, which is, additionally, a leading cause of poor prognosis and early death in ASD (Mouridsen et al. 2008). "
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