An examination of associations between the inability to taste phenylthiocarbamide (PTC) and clinical characteristics and trait markers in first-episode,nonaffective psychotic disorders

Research findings are mixed as to whether or not the inability to taste phenylthiocarbamide (PTC) might represent an endophenotypic trait marker for schizophrenia. We hypothesized associations between PTC-tasting status and select clinical characteristics and trait markers in patients with psychotic disorders that, if present, would provide support for the inability to taste PTC as a trait marker. In a first-episode psychosis sample (n=93), we measured PTC tasting, family history of psychosis, age at onset of prodrome and psychosis, severity of positive and negative symptoms, global impairment in functioning, neurological soft signs, and four neurocognitive domains (verbal learning/memory, visual learning/memory, verbal working memory, and spatial working memory). Associations between PTC-non-tasting and clinical/neurocognitive variables were examined with χ² tests and independent samples t tests. Among participants, 67.7% tasted PTC in comparison to a strip of control paper, and 25.8% were non-tasters. Tasters and non-tasters did not show statistically significant differences with respect to family history, age at onset, severity of symptoms, neurological soft signs, or the four neurocognitive domains. In conjunction with other findings, it is unlikely that PTC-non-tasting is a trait marker of schizophrenia, though a conclusive study is warranted.     

Temperament in the First 2 Years of Life in Infants at High-Risk for Autism Spectrum Disorders

The current study investigated early temperament in 54 infants at familial high-risk of ASD and 50 controls. Parental report of temperament was assessed around 7, 14 and 24 months of age and diagnostic assessment was conducted at 3 years. The high-risk group showed reduced Surgency at 7 and 14 months and reduced Effortful Control at 14 and 24 months, compared to controls. High-risk infants later diagnosed with ASD were distinguished from controls by a temperament profile marked by increased Perceptual Sensitivity from the first year of life, and increased Negative Affect and reduced Cuddliness in the second year of life. Temperament may be an important construct for understanding the early infant development of ASD.     

Sagittal balance and pelvic parameters–a paradigm shift in spinal surgery

It has become evident in recent years that global assessment of spinal sagittal balance is necessary for optimal management of the degenerate spine. Pelvic parameters have been developed which appear to correlate well with the natural history of degenerative spine disorders and outcomes from surgery. Although these parameters have a limited evidence base, they are now in widespread use by spinal surgeons and, in particular, spinal deformity surgeons. It is necessary for all surgeons treating spinal pathology to have a working knowledge of the principles of spinal sagittal balance, to be able to recognise sagittal imbalance and its compensatory mechanisms. In this article we outline the main concepts of spinal sagittal balance and pelvic parameters and how these concepts are leading to a paradigm shift in the surgical management of spinal disorders. We propose that analysis of pelvic parameters of sagittal balance will form an essential part of the evaluation of new surgical techniques for spinal conditions.     

Successful cranio-cervical fusion in a patient with Down syndrome

We present a patient with Down syndrome with neck pain and severe cervical myelopathy. Imaging revealed occipito-atlantal and atlanto-axial instability with severe spinal cord compression. There are no standardized radiological or clinical guidelines to aid in managing this unique subset of patients. We demonstrate a successful occiput–C3 internal fixation and fusion without complication. Due to the largely unknown natural history and ongoing management difficulties in this population, we demonstrate a case that may aid future decision making for this specialized field. We also discuss an approach to reduce this deformity, which, to our knowledge, has not been published before.     

Bone Mineral Density in Adolescents With Eating Disorders Exposed to Selective Serotonin Reuptake Inhibitors

Retrospective chart review was used to collect data from adolescents seen in a specialized eating disorder program over an 11-year period in order to investigate any association between exposure to selective serotonin reuptake inhibitors (SSRIs) and bone mineral density (BMD). SSRI users were matched with controls based on age (within 1.5 years), gender, eating disorder diagnosis, and percent ideal body weight (within 5%), resulting in a sample of 31 pairs. SSRI users had significantly lower BMD z-scores, compared to controls (–1.094 vs. –0.516, p < .035), suggesting that exposure to SSRIs may be a risk factor for lowered BMD.     

Clinical impairment in premanifest and early Huntington's disease is associated with regionally specific atrophy

TRACK‐HD is a multicentre longitudinal observational study investigating the use of clinical assessments and 3‐Tesla magnetic resonance imaging as potential biomarkers for future therapeutic trials in Huntington's disease (HD). The cross‐sectional data from this large well‐characterized dataset provide the opportunity to improve our knowledge of how the underlying neuropathology of HD may contribute to the clinical manifestations of the disease across the spectrum of premanifest (PreHD) and early HD. Two hundred and thirty nine gene‐positive subjects (120 PreHD and 119 early HD) from the TRACK‐HD study were included. Using voxel‐based morphometry (VBM), grey and white matter volumes were correlated with performance in four domains: quantitative motor (tongue force, metronome tapping, and gait); oculomotor [anti‐saccade error rate (ASE)]; cognition (negative emotion recognition, spot the change and the University of Pennsylvania smell identification test) and neuropsychiatric measures (apathy, affect and irritability). After adjusting for estimated disease severity, regionally specific associations between structural loss and task performance were found (familywise error corrected, P < 0.05); impairment in tongue force, metronome tapping and ASE were all associated with striatal loss. Additionally, tongue force deficits and ASE were associated with volume reduction in the occipital lobe. Impaired recognition of negative emotions was associated with volumetric reductions in the precuneus and cuneus. Our study reveals specific associations between atrophy and decline in a range of clinical modalities, demonstrating the utility of VBM correlation analysis for investigating these relationships in HD. Hum Brain Mapp, 2013. © 2011 Wiley Periodicals, Inc.     

Predictors of diagnosis of child psychiatric disorder in adult–infant social-communicative interaction at 12 months

To establish which social interactive behaviours predict later psychiatric diagnosis, we examined 180 videos of a parent–infant interaction when children were aged one year, from within the Avon Longitudinal Study of Parents and Children (ALSPAC) cohort. Sixty of the videos involved infants who were later diagnosed with a psychiatric disorder at seven years, and 120 were a randomly selected sex-matched control group. Interactive behaviours for both the caregiver and the one year old infant were coded from the videos according to eight holistic categories of interpersonal engagement: Well-being, Contingent Responsiveness, Cooperativeness, Involvement, Activity, Playfulness, Fussiness, and Speech. Lower levels of adult activity and speech in interaction at one year significantly predicted overall diagnosis of child psychiatric disorder.     

Understanding macrographia in children with autism spectrum disorders

It has been consistently reported that children with autism spectrum disorders (ASD) show considerable handwriting difficulties, specifically relating to accurate and consistent letter formation, and maintaining appropriate letter size. The aim of this study was to investigate the underlying factors that contribute to these difficulties, specifically relating to motor control. We examined the integrity of fundamental handwriting movements and contributions of neuromotor noise in 26 children with ASD aged 8–13 years (IQ > 75), and 17 typically developing controls. Children wrote a series of four cursive letter l's using a graphics tablet and stylus. Children with ASD had significantly larger stroke height and width, more variable movement trajectory, and higher movement velocities. The absolute level of neuromotor noise in the velocity profiles, as measured by power spectral density analysis, was significantly higher in children with ASD; relatively higher neuromotor noise was found in bands >3 Hz. Our findings suggest that significant instability of fundamental handwriting movements, in combination with atypical biomechanical strategies, contribute to larger and less consistent handwriting in children with ASD.