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J Neurodev Disord. 2015;7(1):1. doi: 10.1186/1866-1955-7-1. Epub 2015 Jan 2.

An fMRI study of facial emotion processing in children and adolescents with 22q11.2 deletion syndrome.

Author information

1
School of International Liberal Studies, Waseda University, Tokyo, Japan.
2
Department of Forensic and Neurodevelopmental Science, Institute of Psychiatry, King's College London, London, UK.
3
National Autism Unit, Bethlem Royal Hospital, SLAM NHS Foundation Trust, London, UK.
4
School of Psychology, University of Newcastle, Newcastle, Australia.
5
Department of Neuroimaging, Institute of Psychiatry, King's College London, London, UK.
6
Department of Psychiatry, Royal College of Surgeons in Ireland, Beaumont Hospital, Dublin, Ireland.
7
Institute of Psychiatry, Sackler Institute for Translational Neurodevelopment, King's College London, London, UK.
#
Contributed equally

Abstract

BACKGROUND:

22q11.2 deletion syndrome (22q11DS, velo-cardio-facial syndrome [VCFS]) is a genetic disorder associated with interstitial deletions of chromosome 22q11.2. In addition to high rates of neuropsychiatric disorders, children with 22q11DS have impairments of face processing, as well as IQ-independent deficits in visuoperceptual function and social and abstract reasoning. These face-processing deficits may contribute to the social impairments of 22q11DS. However, their neurobiological basis is poorly understood.

METHODS:

We used event-related functional magnetic resonance imaging (fMRI) to examine neural responses when children with 22q11DS (aged 9-17 years) and healthy controls (aged 8-17 years) incidentally processed neutral expressions and mild (50%) and intense (100%) expressions of fear and disgust. We included 28 right-handed children and adolescents: 14 with 22q11DS and 14 healthy (including nine siblings) controls.

RESULTS:

Within groups, contrasts showed that individuals significantly activated 'face responsive' areas when viewing neutral faces, including fusiform-extrastriate cortices. Further, within both groups, there was a significant positive linear trend in activation of fusiform-extrastriate cortices and cerebellum to increasing intensities of fear. There were, however, also between-group differences. Children with 22q11DS generally showed reduced activity as compared to controls in brain regions involved in social cognition and emotion processing across emotion types and intensities, including fusiform-extrastriate cortices, anterior cingulate cortex (Brodmann area (BA) 24/32), and superomedial prefrontal cortices (BA 6). Also, an exploratory correlation analysis showed that within 22q11DS children reduced activation was associated with behavioural impairment-social difficulties (measured using the Total Difficulties Score from the Strengths and Difficulties Questionnaire [SDQ]) were significantly negatively correlated with brain activity during fear and disgust processing (respectively) in the left precentral gyrus (BA 4) and in the left fusiform gyrus (FG, BA 19), right lingual gyrus (BA 18), and bilateral cerebellum.

CONCLUSIONS:

Regions involved in face processing, including fusiform-extrastriate cortices, anterior cingulate gyri, and superomedial prefrontal cortices (BA 6), are activated by facial expressions of fearful, disgusted, and neutral expressions in children with 22q11DS but generally to a lesser degree than in controls. Hypoactivation in these regions may partly explain the social impairments of children with 22q11DS.

KEYWORDS:

22q11.2 deletion syndrome (22q11DS); Children; Emotion; Social cognition; Velo-cardio-facial syndrome (VCFS); fMRI

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