Quantitative magnetic resonance image analysis of the cerebellum in macrocephalic and normocephalic children and adults with autism

Cleavinger, Howard B.; Bigler, Erin D.; Johnson, Jamie; Lu, Jeff Zhiqiang; McMahon, William M.; Lainhart, Janet E.

doi:10.1017/s1355617708080594

Cited by 19 publications

(10 citation statements)

References 100 publications

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“…Postmortem neuroanatomical studies have consistently shown decreased Purkinjie cell density (Palmen 2004) in individuals with an ASD. Although morphological studies of the cerebellum have produced inconsistent results (Cleavinger et al 2008), diffusion tensor imaging (Catani et al 2008) and fMRI (Allen and Courchesne 2003) studies continue to support the presence of autism-related cerebellar abnormalities.…”

Section: Discussionmentioning

confidence: 99%

Abnormal Transient Pupillary Light Reflex in Individuals with Autism Spectrum Disorders

Fan

Miles

Takahashi

et al. 2009

J Autism Dev Disord

102

122

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Computerized binocular infrared pupillography was used to measure the transient pupillary light reflex (PLR) in both children with autism spectrum disorders (ASDs) and children with typical development. We found that participants with ASDs showed significantly longer PLR latency, smaller constriction amplitude and lower constriction velocity than children with typical development. The PLR latency alone can be used to discriminate the ASD group from the control group with a cross-validated success rate of 89.6%. By adding the constriction amplitude, the percentage of correct classification can be further improved to 92.5%. In addition, the right-lateralization of contraction anisocoria that was observed in participants with typical development was not observed in those with ASDs. Further studies are necessary to understand the origin and implications of these observations. It is anticipated that as potential biomarkers, these pupillary light reflex measurements will advance our understanding of neurodevelopmental differences in the autism brain.

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Section: Discussionmentioning

confidence: 99%

Abnormal Transient Pupillary Light Reflex in Individuals with Autism Spectrum Disorders

Fan

Miles

Takahashi

et al. 2009

J Autism Dev Disord

102

122

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“…Each number represents a separate study: 1, Hashimoto et al, 1995; 2, Courchesne et al, 2001; 3, Akshoomoff et al, 2004; 4, Webb et al, 2009; 5, Carper et al, 2000; 6, Kleiman et al, 1992; 7, Kaufmann et al, 2003; 8, Kates et al, 2004; 9, Mitchell et. al., 2009; 10, Herbert et al, 2003; 11, Elia et al, 2000; 12, Cleavinger et. al., 2008; 13, Ciesielski et al, 1997; 14, Hardan et al, 2001; 15, Piven et al, 1992; 16, Hallahan et.…”

Section: Figurementioning

confidence: 99%

Brain growth across the life span in autism: Age-specific changes in anatomical pathology

Courchesne¹,

Campbell²,

Solso³

2011

Brain Research

576

451

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Autism is marked by overgrowth of the brain at the earliest ages but not at older ages when decreases in structural volumes and neuron numbers are observed instead. This has lead to the theory of age-specific anatomic abnormalities in autism. Here we report age-related changes in brain size in autistic and typical subjects from 12 months to 50 years of age based on analyses of 586 longitudinal and cross-sectional MRI scans. This dataset is several times larger than the largest autism study to date. Results demonstrate early brain overgrowth during infancy and the toddler years in autistic boys and girls, followed by an accelerated rate of decline in size and perhaps degeneration from adolescence to late middle age in this disorder. We theorize that underlying these age-specific changes in anatomic abnormalities in autism there may also be age-specific changes in gene expression, molecular, synaptic, cellular and circuit abnormalities. A peak age for detecting and studying the earliest fundamental biological underpinnings of autism is prenatal life and the first three postnatal years. Studies of the older autistic brain may not address original causes but are essential to discovering how best to help the older aging autistic person. Lastly, the theory of age-specific anatomic abnormalities in autism has broad implications for a wide range of work on the disorder including the design, validation and interpretation of animal model, lymphocyte gene expression, brain gene expression, and genotype/CNV-anatomic phenotype studies.

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“…At the end of this process, 44 studies were selected, each assessing patients with idiopathic autism (i.e., DSM-IV diagnoses of either Autistic Disorder, Asperger's Disorder or Pervasive Developmental Disorder Not Otherwise Specified, PDD-NOS) and controls (Piven et al, 1995;Aylward et al, 1999;Haznedar et al, 2000;Hardan et al, 2000;Courchesne et al, 2001;Pierce and Couchesne, 2001;Aylward et al, 2002;Carper et al, 2002;McAlonan et al, 2002;Rojas et al, 2002;Sparks et al, 2002;Hardan et al, 2003;Herbert et al, 2003;Tsatsanis et al, 2003;Akshoomoff et al, 2004;Kates et al, 2004;Palmen et al, 2004;Schumann et al, 2004;Palmen et al, 2005;Vidal et al, 2006;Bloss and Courchesne, 2007;Girgis et al, 2007;Mostofsky et al, 2007;Tate et al, 2007;Cleavinger et al, 2008;Hardan et al, 2008;Freitag et al, 2009;Hallahan et al, 2009;Hardan et al, 2009;Scott et al, 2009;Bigler et al, 2010;Griebling et al, 2010;Jou et al, 2010aJou et al, , 2010bSchumann et al, 2010;Tamura et al, 2010;Tepest et al, 2010;Cheung et al, 2011;Hong et al, 2011;Calderoni et al, 2012;Greimel et al, 2012;…”

Section: 2study Selection Criteriamentioning

confidence: 99%

Head circumference and brain size in autism spectrum disorder: A systematic review and meta-analysis

Sacco

Gabriele

Persico

2015

Psychiatry Research: Neuroimaging

205

153

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Macrocephaly and brain overgrowth have been associated with autism spectrum disorder. We performed a systematic review and meta-analysis to provide an overall estimate of effect size and statistical significance for both head circumference and total brain volume in autism. Our literature search strategy identified 261 and 391 records, respectively; 27 studies defining percentages of macrocephalic patients and 44 structural brain imaging studies providing total brain volumes for patients and controls were included in our meta-analyses. Head circumference was significantly larger in autistic compared to control individuals, with 822/5225 (15.7%) autistic individuals displaying macrocephaly. Structural brain imaging studies measuring brain volume estimated effect size. The effect size is higher in low functioning autistics compared to high functioning and ASD individuals. Brain overgrowth was recorded in 142/1558 (9.1%) autistic patients. Finally, we found a significant interaction between age and total brain volume, resulting in larger head circumference and brain size during early childhood. Our results provide conclusive effect sizes and prevalence rates for macrocephaly and brain overgrowth in autism, confirm the variation of abnormal brain growth with age, and support the inclusion of this endophenotype in multi-biomarker diagnostic panels for clinical use.

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Quantitative magnetic resonance image analysis of the cerebellum in macrocephalic and normocephalic children and adults with autism

Cited by 19 publications

References 100 publications

Abnormal Transient Pupillary Light Reflex in Individuals with Autism Spectrum Disorders

Abnormal Transient Pupillary Light Reflex in Individuals with Autism Spectrum Disorders

Brain growth across the life span in autism: Age-specific changes in anatomical pathology

Head circumference and brain size in autism spectrum disorder: A systematic review and meta-analysis

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