Dementieva, Y.A. et al. Accelerated head growth in early development of individuals with autism. Pediatr. Neurol. 32, 102-108

Duke University, Durham, North Carolina, United States
Pediatric Neurology (Impact Factor: 1.7). 03/2005; 32(2):102-8. DOI: 10.1016/j.pediatrneurol.2004.08.005
Source: PubMed


Macrocephaly is one of the most consistent physical findings reported in autistic individuals. Previous studies attempted to determine if macrocephaly is associated with risk for autism. This study hypothesizes that an abnormal acceleration in head growth during early development, rather than macrocephaly, is associated with autism risk. To investigate this hypothesis, head circumference data were examined in 251 individuals from 82 multiplex (at least two individuals with autism) and 113 sporadic (no family history) families with autism. This examination included longitudinal measurements for 79 individuals. Nineteen percent of the original 251 individuals were found to have macrocephaly (head circumference >97%). Abnormal acceleration in head growth was defined as an increase of 25 or more percentile points in head circumference between two consecutive measurements. Thirty-five percent of individuals with multiple head circumference records had an abnormal increase in head circumference. Furthermore, autistic individuals with accelerated head growth in early childhood displayed higher levels of adaptive functioning and less social impairment. This study confirms the presence of abnormal acceleration in head growth during the first and second months of life in a subgroup of autistic individuals.

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    • "This result is slightly different compared to first Courchesne study (2003) where the abnormal growth reached the 84th percentile and HC at birth was significantly smaller in ASD group compared to subjects with typical development. In agreement with several other reports (Dementieva et al., 2005; Hultman et al., 2002; Lainhart et al., 1997; Torrey et al., 2004), our ASD newborns show a HC measurement similar to typical control. Second, our findings indicate that the first semester of life represents the period at which the abnormal brain overgrowth has his peak (assuming that HC is a reliable indirect [ "
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    ABSTRACT: This retrospective study aims to describe head circumference (HC) developmental course during the first year of life in 50 Italian children with autism spectrum disorder (ASD) and in a control group of 100 typically developing children (TD). To this end, we use anthropometric measurements (HC, body height, body weight) obtained at birth (T0), 1–2 months (T1), 3–5 months (T2) and 6–12 months (T3) from paediatricians and reported in the infant's ‘baby book’. Data indicate that at T2 and T3 HC was significantly greater in ASD group compared to TD, while from T1 weight was significantly smaller in ASD subjects compared to healthy infants. After controlling for weight and height, ASD HC shows an excessive rate of growth from birth. The abnormal HC growth is present in the majority of infants with ASD and could represent a biomarker that together with other clinical signs might promote an early ASD identification.Highlights► We retrospectively studied head circumference (HC) growth during the first year of life. ► 50 autism spectrum disorder (ASD) children and 100 typical children are analyzed. ► We examine data from birth (T0); 1–2 months (T1); 3–5 months (T2), 6–12 months (T3). ► At T2 and T3 HC was significantly greater in ASD compared to typical children. ► After controlling for weight and height, ASD HC shows an excessive growth from T0.
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    • "ASD are mainly characterized by the triad of repetitive behavior and impaired social functioning and communication (Wing and Gould 1979), whereas a number of other features have been, as well, identified. Macrocephaly (head circumference (HC) C97th percentile) is noted in 17.3% of children with autism (Lainhart et al. 2006) and has been associated with average HC at birth and accelerated cranial growth during early development (Dementieva et al. 2005). 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). "
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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.
    Full-text · Article · Dec 2011 · Journal of Autism and Developmental Disorders
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    • "Despite this well-replicated finding of increased head size and brain volume in ASD, macrocephaly does not appear to define a specific subgroup of clinical features. Some studies have found that increased head size in ASD is advantageous and is related to higher IQ [113] and better social skills [109] whereas others have reported negative effects, such as delayed onset of words [110], more impaired social cognition [113], and increased stereotyped behaviors [114]. Still other studies have found no direct associations between HC-and ASD-related symptoms [108]. "
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    ABSTRACT: The presence of autism-related traits has been well documented in undiagnosed family members of individuals with autism spectrum disorder (ASD). The most common finding is mild impairments in social and communication skills that are similar to those shown by individuals with autism, but exhibited to a lesser degree. Termed the broader autism phenotype (BAP), these traits suggest a genetic liability for autism-related traits in families. Genetic influence in autism is strong, with identical twins showing high concordance for the diagnosis and related traits and approximately 20% of all ASD cases having an identified genetic mechanism. This paper highlights the studies conducted to date regarding the BAP and considers the implications of these findings for the etiology and treatment of ASD.
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