Our ability to differentiate between simple facial expressions of emotion develops between infancy and early adulthood, yet few studies have explored the developmental trajectory of emotion recognition using a single methodology across a wide age-range. We investigated the development of emotion recognition abilities through childhood and adolescence, testing the hypothesis that children’s ability to recognize simple emotions is modulated by chronological age, pubertal stage and gender. In order to establish norms, we assessed 478 children aged 6–16 years, using the Ekman-Friesen Pictures of Facial Affect. We then modeled these cross-sectional data in terms of competence in accurate recognition of the six emotions studied, when the positive correlation between emotion recognition and IQ was controlled. Significant linear trends were seen in children’s ability to recognize facial expressions of happiness, surprise, fear, and disgust; there was improvement with increasing age. In contrast, for sad and angry expressions there is little or no change in accuracy over the age range 6–16 years; near-adult levels of competence are established by middle-childhood. In a sampled subset, pubertal status influenced the ability to recognize facial expressions of disgust and anger; there was an increase in competence from mid to late puberty, which occurred independently of age. A small female advantage was found in the recognition of some facial expressions. The normative data provided in this study will aid clinicians and researchers in assessing the emotion recognition abilities of children and will facilitate the identification of abnormalities in a skill that is often impaired in neurodevelopmental disorders. If emotion recognition abilities are a good model with which to understand adolescent development, then these results could have implications for the education, mental health provision and legal treatment of teenagers.

The amygdala, which plays a critical role in emotional learning and social cognition, is structurally and functionally sexually dimorphic in humans. We used magnetic neuroimaging and molecular genetic analyses with healthy subjects and patients possessing X-chromosome anomalies to find dosage-sensitive genes that might influence amygdala development. If such X-linked genes lacked a homologue on the Y-chromosome they would be expressed in one copy in normal 46,XY males and two copies in normal 46,XX females. We showed by means of magnetic neuroimaging that 46,XY males possess significantly increased amygdala volumes relative to normal 46,XX females. However, females with Turner syndrome (45,X) have even larger amygdalae than 46,XY males. This finding implies that haploinsufficiency for one or more X-linked genes influences amygdala development irrespective of a direct or indirect (endocrinological) mechanism involving the Y-chromosome. 45,X females also have increased grey matter volume in the orbitofrontal cortex bilaterally, close to a region implicated in emotional learning. They are as poor as patients with bilateral amygdalectomies in the recognition of fear from facial expressions. We attempted to localize the gene(s) responsible for these deficits in X-monosomy by means of a deletion mapping strategy. We studied female patients possessing structural X-anomalies of the short arm. A genetic locus (no greater than 4.96 Mb in size) at Xp11.3 appears to play a key role in amygdala and orbitofrontal structural and (by implication) functional development. Females with partial X-chromosome deletions, in whom this critical locus is deleted, have normal intelligence. Their fear recognition is as poor as that of 45,X females and their amygdalae are correspondingly enlarged. This 4.96 Mb region contains, among others, the genes for monoamine oxidase A (MAOA) and B (MAOB), which are involved in the oxidative deamination of several neurotransmitters, including dopamine and serotonin. Abnormal activity of these neurotransmitters has been implicated in the aetiology of several neurodevelopmental disorders in which social cognitive deficits are prominent. These associated deficits include a specific lack of fear recognition from facial expressions. We show that the thrombocytic activity of MAOB is proportionate to the number of X-chromosomes, and hypothesize that haploinsufficiency of this enzyme in 45,X females predisposes to their deficits in social cognition.

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Objective:We examined whether glucose transporter 1 (GLUT1) deficiency causes common idiopathic generalized epilepsies (IGEs).Methods:The IGEs are common, heritable epilepsies that usually follow complex inheritance; currently little is known about their genetic architecture. Previously considered rare, GLUT1 deficiency, due to mutations in SLC2A1, leads to failure of glucose transport across the blood–brain barrier and inadequate glucose for brain metabolism. GLUT1 deficiency was first associated with an encephalopathy and more recently found in rare dominant families with epilepsy and paroxysmal exertional dyskinesia (PED). Five hundred four probands with IGEs and 470 controls underwent SLC2A1 sequencing. Glucose transport was assayed following expression of SLC2A1 variants in Xenopus oocytes. All available relatives were phenotyped, and SLC2A1 was sequenced.Results:Functionally validated mutations in SLC2A1 were present in 7 of 504 (1.4%) probands and 0 of 470 controls. PED, undiagnosed prior to study, occurred in 1 proband and 3 of 13 relatives with mutations. The IGEs in probands and relatives were indistinguishable from typical IGE. Three cases (0.6%) had mutations of large functional effect and showed autosomal dominant inheritance or were de novo. Four (0.8%) cases had a subtle functional effect; 2 showed possible dominant inheritance, and 2 did not. These alleles leading to subtle functional impairment may contribute to complex, polygenic inheritance of IGE.Interpretation:SLC2A1 mutations contribute to approximately 1% of IGE both as a dominant gene and as a susceptibility allele in complex inheritance. Diagnosis of GLUT1 deficiency has important treatment (ketogenic diet) and genetic counseling implications. The mechanism of restricted glucose delivery differs from the current focus on IGEs as ion channel disorders. ANN NEUROL 2012;72:807–815

Face recognition is thought to rely on configural visual processing. Where face recognition impairments have been identified, qualitatively delayed or anomalous configural processing has also been found. A group of women with Turner syndrome (TS) with monosomy for a single maternal X chromosome (45, X m ) showed an impairment in face recognition skills compared with normally developing women. However, normal configural face-processing abilities were apparent. The ability to recognize facial expressions of emotion, particularly fear, was also impaired in this TS subgroup. Face recognition and fear recognition accuracy were significantly correlated in the female control group but not in women with TS. The authors therefore suggest that anomalies in amygdala function may be a neurological feature of TS of this karyotype.

SUMMARYGlucose transporter 1 (GLUT1) deficiency caused by mutations of SLC2A1 is an increasingly recognized cause of genetic generalized epilepsy. We previously reported that >10% (4 of 34) of a cohort with early onset absence epilepsy (EOAE) had GLUT1 deficiency. This study uses a new cohort of 55 patients with EOAE to confirm that finding. Patients with typical absence seizures beginning before 4 years of age were screened for solute carrier family 2 (facilitated glucose transporter), member 1 (SLC2A1) mutations or deletions. All had generalized spike-waves on electroencephalography (EEG). Those with tonic and/or atonic seizures were excluded. Mutations were found in 7 (13%) of 55 cases, including five missense mutations, an in-frame deletion leading to loss of a single amino acid, and a deletion spanning two exons. Over both studies, 11 (12%) of 89 probands with EOAE have GLUT1 deficiency. Given the major treatment and genetic counseling implications, this study confirms that SLC2A1 mutational analysis should be strongly considered in EOAE.

Temporal lobe epilepsy is the commonest partial epilepsy of adulthood. Although generally perceived as an acquired disorder, several forms of familial temporal lobe epilepsy, with mesial or lateral seizure semiology, have been described. Descriptions of familial mesial temporal lobe epilepsy have varied widely from a benign epilepsy syndrome with prominent déjà vu and without antecedent febrile seizures or magnetic resonance imaging abnormalities, to heterogeneous, but generally more refractory epilepsies, often with a history of febrile seizures and with frequent hippocampal atrophy and high T₂ signal on magnetic resonance imaging. Compelling evidence of a genetic aetiology (rather than chance aggregation) in familial mesial temporal lobe epilepsy has come from twin studies. Dominant inheritance has been reported in two large families, though the usual mode of inheritance is not known. Here, we describe clinical and neurophysiological features of 20 new mesial temporal lobe epilepsy families including 51 affected individuals. The epilepsies in these families were generally benign, and febrile seizure history was infrequent (9.8%). No evidence of hippocampal sclerosis or dysplasia was present on brain imaging. A single individual underwent anterior temporal lobectomy, with subsequent seizure freedom and histopathological evidence of hippocampal sclerosis was not found. Inheritance patterns in probands' relatives were analysed in these families, together with 19 other temporal lobe epilepsy families previously reported by us. Observed frequencies of epilepsies in relatives were lower than predicted by dominant Mendelian models, while only a minority (8/39) of families could be compatible with recessive inheritance. These findings strongly suggest that complex inheritance, similar to that widely accepted in the idiopathic generalized epilepsies, is the usual mode of inheritance in familial mesial temporal lobe epilepsy. This disorder, which appears to be relatively common, and not typically associated with hippocampal sclerosis, is an appropriate target for contemporary approaches to complex disorders such as genome-wide association studies for common genetic variants or deep sequencing for rare variants.

Purpose – Recovery Colleges strive to assist individuals in their journey of recovery and help organisations to become more recovery focused. The evidence base surrounding Recovery Colleges is still in its infancy and further research is required to investigate their effectiveness. The purpose of this paper is to explore the subjective experience of people involved with a Recovery College: “The Recovery Academy” based in Greater Manchester. Design/methodology/approach – A qualitative study using data collected from four focus groups of Recovery Academy students who have either lived experience of mental health problems, are health professionals or are family members or carers. The data were analysed using thematic analysis. Findings – Four main themes emerged from discussing experiences of the Recovery Academy and its courses: ethos of the Recovery Academy; personal and organisational impact; value of co-production; and barriers to engagement and impact. The Recovery Academy can have a positive impact on the lives of students who attend the courses and offer benefits to the organisation in which it is run. Originality/value – Recovery Colleges are gaining large interest nationally. However, to date there is a paucity of research on Recovery Colleges. This is the first paper to be presented for publication specifically on the Recovery Academy. The findings of this study suggest Recovery Colleges have the potential to positively impact students and facilitate recovery oriented organisational change. The findings can add valuable data to the emerging Recovery College evidence base.