Research LettersAutism and macrocephaly
References (5)
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Autism and megalencephaly
Lancet
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Macrocephaly in children and adults with autism
J Am Acad Child Adolesc Psychiatry
(1997)
Cited by (122)
A voxel-wise assessment of growth differences in infants developing autism spectrum disorder
2021, NeuroImage: ClinicalClinical Phenotypes of Carriers of Mutations in CHD8 or Its Conserved Target Genes
2020, Biological PsychiatryCitation Excerpt :Alternately, each ASD-associated disruptive gene event may be independently affecting head growth, which contributes to the overall heterogeneity in head size among individuals with ASD. Given higher rates of ASD in our CHD8 and target groups, we cannot rule out that this shared pattern of larger head circumference may be due to an unknown third factor, explaining higher rates of macrocephaly in ASD more broadly (37–47). Considering that in addition to increased head circumference in the CHD8 and target groups these two groups also evince larger body weights than the other gene group, overgrowth may be a key phenotypic commonality between individuals with a mutation to CHD8 and those with a mutation to a gene that is regulated by CHD8.
Head circumference and brain size in autism spectrum disorder: A systematic review and meta-analysis
2015, Psychiatry Research - NeuroimagingEarly head growth in infants at risk of autism: A baby siblings research consortium study
2014, Journal of the American Academy of Child and Adolescent PsychiatryMutations in KPTN cause macrocephaly, neurodevelopmental delay, and seizures
2014, American Journal of Human GeneticsCitation Excerpt :Extremes of brain growth have frequently been associated with impaired neurodevelopment and cognition. Occipitofrontal circumference is an indirect measure of brain growth and the one most widely used in clinical practice in which macrocephaly (≥2 SDs above the mean) is indicative of brain overgrowth (megalencephaly) in the absence of hydrocephalus and cranial thickening.1 The differential diagnosis of macrocephaly relates to the underlying presence or absence of structural brain anomalies.