Association study of the vesicular monoamine transporter gene SLC18A2 with tardive dyskinesia

Tardive dyskinesia (TD) is an involuntary movement disorder that can occur in up to 25% of patients receiving long-term first-generation antipsychotic treatment. Its etiology is unclear, but family studies suggest that genetic factors play an important role in contributing to risk for TD. The vesicular monoamine transporter 2 (VMAT2) is an interesting candidate for genetic studies of TD because it regulates the release of neurotransmitters implicated in TD, including dopamine, serotonin, and GABA. VMAT2 is also a target of tetrabenazine, a drug used in the treatment of hyperkinetic movement disorders, including TD. We examined nine single-nucleotide polymorphisms (SNPs) in the SLC18A2 gene that encodes VMAT2 for association with TD in our sample of chronic schizophrenia patients (n = 217). We found a number of SNPs to be nominally associated with TD occurrence and the Abnormal Involuntary Movement Scale (AIMS), including the rs2015586 marker which was previously found associated with TD in the CATIE sample ( Tsai et al., 2010), as well as the rs363224 marker, with the low-expression AA genotype appearing to be protective against TD (p = 0.005). We further found the rs363224 marker to interact with the putative functional D2 receptor rs6277 (C957T) polymorphism (p = 0.001), supporting the dopamine hypothesis of TD. Pending further replication, VMAT2 may be considered a therapeutic target for the treatment and/or prevention of TD.     

Neurophysiological differences in inhibitory control between adults with ADHD and their peers

Inhibitory control allows individuals to suppress prepotent responses and resist irrelevant stimuli, and is thought to be a core deficit in Attention-deficit/hyperactivity disorder (ADHD). Whereas numerous studies have investigated neural mechanisms underlying inhibitory control deficits in children with ADHD, less is known about underlying mechanisms in young adults with ADHD. This study explores the neural correlates of inhibitory control in college students with ADHD—a population that, despite comparatively high educational attainment, still shows marked functional impairments in academic, social, and occupational functioning. Participants were 54 college students with ADHD and 29 typically developing peers. Specifically the fronto-centrally located N2 and the centro-parietal P3 event-related potential (ERP) components were hypothesized to show decreased amplitudes for the ADHD group due to their known association with inhibitory control. Dense array electroencephalography (EEG) data was collected during a Go/nogo task. Results show lower accuracy rates for the ADHD group and significant reductions in P3 amplitude as well as a trend for reduced N2 amplitude in nogo trials where subjects successfully inhibited a response. Notably, nogo N2 and P3 amplitudes correlated with the number of ADHD symptoms: namely, smaller amplitudes were associated with more symptoms. We conclude that when compared to their typically developing peers, relatively high functioning adults with ADHD still show a deviant neural signature. These results contribute to the growing literature of adult ADHD and increase our understanding of the neural correlates of inhibitory control associated with ADHD.     

Please (Don't) Want Me

In certain clinical situations, desire and arousal are significant components of the intersubjective field. In these cases, the analyst's wish to bear witness extends to both mind and body. This article will explore the impact of absent, violent, or otherwise unavailable fathers on their heterosexual sons and the resulting longing for male attention, admiration, and love, which often includes a need to be admired physically and romantically in ways their fathers could not provide. When this desire emerges in the treatment, the male analyst who experiences an erotic countertransference response and can manage potential anxiety and shame is in a unique position to provide the patient with these necessary supplies. Two case examples will be considered.     

Associations Between Language Development and Skin Conductance Responses to Faces and Eye Gaze in Children with Autism Spectrum Disorder

Attention to social stimuli is associated with language development, and arousal is associated with the increased viewing of stimuli. We investigated whether skin conductance responses (SCRs) are associated with language development in autism spectrum disorder (ASD): a population that shows abnormalities in both attention to others and language development. A sample of 32 children with ASD (7–15 year; M = 9 year) was divided into two groups, based on language onset histories. A typically developing comparison group consisted of 18 age and IQ matched children. SCRs were taken as the participants viewed faces. SCRs differentiated the ASD group based on language onset and were associated with abnormal attention to gaze in infancy and subsequent language development.     

Routine sectioning of the C2 nerve root and ganglion for C1 lateral mass screw placement in children: surgical and functional outcomes

Purpose

Adult studies have shown that sectioning the C2 nerve root and ganglion may facilitate placement of C1 lateral mass screws and lead to decreased operative time and blood loss. We report the functional outcomes and complications following routine sectioning of the C2 nerve root and ganglion, which have not been reported in pediatric patients.

Methods

Fifteen consecutive pediatric patients underwent C1 lateral mass screw insertion and bilateral C2 nerve root and ganglion sectioning. Clinical and radiographic assessments were performed at follow-up. Numbness in the C2 distribution and/or occipital neuralgia, operative times, estimated blood loss (EBL), length of stay (LOS), and complications were recorded.

Results

Average follow-up time was 35.7 months. Overall mean operative time was 250.5 min, LOS was 8.46 days, and EBL was 337 cc. When considering only atlantoaxial fusions, mean operative time was 180.7 min and EBL was 97.1 cc. There were no intraoperative complications, and no patient reported new onset occipital neuralgia or numbness in the C2 distribution that would interfere with daily living. Of the patients, 93 % achieved Lenke fusion grade A; one achieved Lenke fusion grade B.

Conclusions

Routine C2 nerve root sectioning and ganglionectomy enhanced surgical exposure of the C1 lateral mass and C1–2 facet joint, potentially maximizing fusion rate and minimizing intraoperative complications. This technique may yield favorable operative times, EBL, and LOS in children undergoing C1 lateral mass screw insertion without negatively affecting functional outcome.     

Large parietal midline defect with unusual ridge-like structure at the rim and persistent falcine sinus

Background

Midline cranial defects can be divided into lesions with intracranial tissue herniation (cranium bifidum cysticum) and lesions mainly with ossification failure (cranium bifidum occultum). Herniated cephaloceles mostly require surgical resection, while persisted parietal foramina might become smaller with age.

Clinical case

Here, we report a neonate with large symmetric midline skull defect at high parietal area. A mild bulging mass was noticed. Interestingly, unlike sac herniation, it was surrounded by bony ridges extended from the rim of the calvarial defect, which suggests aberrant ossification. Persistent falcine sinus was also detected. At the corrected age of 11 months, the size of the skull defect had decreased spontaneously, favoring the diagnosis of parietal bone ossification defect. Potential mechanisms resulting in the special appearance of skull bone were discussed.

Conclusion

Incomplete closing of the parietal foramina might be expected due to the aberrant ridge formation. We suggest protective measures for the calvarial defect.     

Realization of complex onsets by pediatric users of cochlear implants

This study examined variations in English complex onset realizations by children who use cochlear implants. Data consisted of 227 productions of two‐segment onset clusters from 12 children. In general, onset cluster realizations of children with cochlear implants did not differ markedly from those reported for children with normal hearing: null realizations were rare or nonexistent, there were few epenthetic realizations, one‐segment realizations generally respected sonority principles, and two‐segment realizations reflected singleton constraints. Further examination also revealed that the basis for variation among the children with cochlear implants could be attributed to differences in constraint rankings within Optimality Theory. Differences in constraint rankings could thus account for variations in the number of output segments, in the role of sonority in reduction, and in relationships between segmental and featural faithfulness.