Altered Microstructure Within Social-Cognitive Brain Networks During Childhood in Williams Syndrome

Haas, Brian W.; Barnea-Goraly, Naama; Sheau, Kristen; Yamagata, Bun; Ullas, Shruti; Reiss, Allan L.

doi:10.1093/cercor/bht135

Cited by 30 publications

(27 citation statements)

References 112 publications

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“…Exclusion criteria for all groups included premature birth (gestational age under 34 weeks), known diagnosis of a major psychiatric disorder, including psychotic or mood disorders, or current neurological disorder including seizures, and any contraindications for a Magnetic Resonance Imaging (MRI) scan. Participants in this study partially overlap with participants reported in previous studies from our laboratory [Reiss et al, 2004;Thompson et al, 2005;Haas et al, 2009Haas et al, , 2014a. Written informed consent and/or assent were obtained from each participant's legal guardian and participant.…”

Section: Methods Participantsmentioning

confidence: 99%

Surface‐based morphometry reveals distinct cortical thickness and surface area profiles in Williams syndrome

Green

Fierro

Raman

et al. 2016

American J of Med Genetics Pt B

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Morphometric investigations of brain volumes in Williams syndrome (WS) consistently show significant reductions in gray matter volume compared to controls. Cortical thickness (CT) and surface area (SA) are two constituent parts of cortical gray matter volume that are considered genetically distinguishable features of brain morphology. Yet, little is known about the independent contribution of cortical CT and SA to these volumetric differences in WS. Thus, our objectives were: (i) to evaluate whether the microdeletion in chromosome 7 associated with WS has a distinct effect on CT and SA, and (ii) to evaluate age-related variations in CT and SA within WS. We compared CT and SA values in 44 individuals with WS to 49 age- and sex-matched typically developing controls. Between-group differences in CT and SA were evaluated across two age groups: young (age range 6.6-18.9 years), and adults (age range 20.2-51.5 years). Overall, we found contrasting effects of WS on cortical thickness (increases) and surface area (decreases). With respect to brain topography, the between-group pattern of CT differences showed a scattered pattern while the between-group surface area pattern was widely distributed throughout the brain. In the adult subgroup, we observed a cluster of increases in cortical thickness in WS across the brain that was not observed in the young subgroup. Our findings suggest that extensive early reductions in surface area are the driving force for the overall reduction in brain volume in WS. The age-related cortical thickness findings might reflect delayed or even arrested development of specific brain regions in WS.

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Section: Methods Participantsmentioning

confidence: 99%

Surface‐based morphometry reveals distinct cortical thickness and surface area profiles in Williams syndrome

Green

Fierro

Raman

et al. 2016

American J of Med Genetics Pt B

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“…Brain abnormalities include decreased cerebral volume, smaller neurons, and abnormal gyrification, (Galaburda et al, 2002; Jackowski et al, 2009; Meyer-Lindenberg et al, 2006; Reiss et al, 2000; Schmitt et al, 2001; Van Essen et al, 2006). While imaging studies have shown that several white matter axonal pathways, including long-range projection systems such as the anterior commissure and corticospinal tract, have an altered microstructure (Arlinghaus et al, 2011; Campbell et al, 2009; Faria et al, 2012; Fung et al, 2012; Haas et al. ; Hoeft et al, 2007), it is also appreciated that the corpus callosum (CC) is smaller and abnormally shaped in WS (Faria et al, 2012; Luders et al, 2007; Marenco et al, 2007; Sampaio et al, 2013; Schmitt et al, 2001; Tomaiuolo et al, 2002).…”

Section: Introductionmentioning

confidence: 99%

The 7q11.23 Protein DNAJC30 Interacts with ATP Synthase and Links Mitochondria to Brain Development

Tebbenkamp

Varela

Choi

et al. 2018

Cell

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SUMMARY Despite the known causality of copy number variations (CNVs) to human neurodevelopmental disorders, the mechanisms behind each genes’ contribution to the constellation of neural phenotypes remains elusive. Here, we investigated the 7q11.23 CNV, whose hemideletion causes Williams syndrome (WS), and uncovered mitochondrial dysfunction participates in WS pathogenesis. Dysfunction is facilitated in part by the 7q11.23 protein DNAJC30, which interacts with mitochondrial ATP synthase machinery. Removal of Dnajc30 in mice resulted in hypofunctional mitochondria, diminished morphological features of neocortical pyramidal neurons, and altered behaviors reminiscent of WS. The mitochondrial features are consistent with the decreased integrity of oxidative phosphorylation supercomplexes and ATP synthase dimers we observed in WS. Thus, we reveal DNAJC30 as a novel auxiliary component of ATP synthase machinery, and link mitochondrial maladies as underlying certain defects in brain development and function associated with WS.

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“…In WS the fusiform gyrus itself appears to be enlarged (Reiss et al, 2004) and also better connected with other structures (greater fractional anisotropy) compared to TD controls (Hass et al, 2012;Haas et al, 2013).…”

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confidence: 99%

Facial emotion recognition in Williams syndrome and Down syndrome: A matching and developmental study

Martínez‐Castilla

Burt

Borgatti

et al. 2014

Child Neuropsychology

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Citation for published item:wrt¡ %nezEgstillD F nd furtD wF nd forgttiD F nd qglirdiD gF @PHISA 9pil emotion reognition in illims syndrome nd hown syndrome X mthing nd developmentl studyF9D ghild neuropsyhologyFD PI @SAF ppF TTVETWPF Further information on publisher's website: Additional information:Use policyThe full-text may be used and/or reproduced, and given to third parties in any format or medium, without prior permission or charge, for personal research or study, educational, or not-for-prot purposes provided that:• a full bibliographic reference is made to the original source • a link is made to the metadata record in DRO • the full-text is not changed in any way The full-text must not be sold in any format or medium without the formal permission of the copyright holders.Please consult the full DRO policy for further details. In this study both the matching and developmental trajectories approaches were used to clarify the development of facial expression recognition in Williams syndrome (WS) and Down syndrome (DS). The matching approach showed that neither individuals with WS nor DS exhibit a specific proficiency for the expression of happiness or a specific impairments for negative emotions but presented the same pattern of emotion recognition as typically developing (TD) individuals. Thus, the better performance on the recognition of positive compared to negative emotions often reported in WS and DS is not specific to these populations but represents a typical pattern. Prior studies based on the matching approach suggested that the development of facial expression recognition is delayed in WS and atypical in DS. Nevertheless, and even though performance levels were lower in DS than in WS, the developmental trajectories approach used in this study found that not only individuals with DS but also those with WS present atypical developmental trajectories. Unlike in the TD participants where developmental changes were observed along with age, in the WS and DS development was static. Thus, both individuals with WS and those with DS reach early maximum levels of facial expression recognition due to cognitive constraints.

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Altered Microstructure Within Social-Cognitive Brain Networks During Childhood in Williams Syndrome

Cited by 30 publications

References 112 publications

Surface‐based morphometry reveals distinct cortical thickness and surface area profiles in Williams syndrome

Surface‐based morphometry reveals distinct cortical thickness and surface area profiles in Williams syndrome

The 7q11.23 Protein DNAJC30 Interacts with ATP Synthase and Links Mitochondria to Brain Development

Facial emotion recognition in Williams syndrome and Down syndrome: A matching and developmental study

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