Novel Mutations Including Deletions of the Entire OFD1 Gene in 30 Families with Type 1 Orofaciodigital Syndrome: A Study of the Extensive Clinical Variability

OFD1, now recognized as a ciliopathy, is characterized by malformations of the face, oral cavity and digits, and is transmitted as an X‐linked condition with lethality in males. Mutations in OFD1 also cause X‐linked Joubert syndrome (JBTS10) and Simpson–Golabi–Behmel syndrome type 2 (SGBS2). We have studied 55 sporadic and six familial cases of suspected OFD1. Comprehensive mutation analysis in OFD1 revealed mutations in 37 female patients from 30 families; 22 mutations have not been previously described including two heterozygous deletions spanning OFD1 and neighbouring genes. Analysis of clinical findings in patients with mutations revealed that oral features are the most reliable diagnostic criteria. A first, detailed evaluation of brain MRIs from seven patients with cognitive defects illustrated extensive variability with the complete brain phenotype consisting of complete agenesis of the corpus callosum, large single or multiple interhemispheric cysts, striking cortical infolding of gyri, ventriculomegaly, mild molar tooth malformation and moderate to severe cerebellar vermis hypoplasia. Although the OFD1 gene apparently escapes X‐inactivation, skewed inactivation was observed in seven of 14 patients. The direction of skewing did not correlate with disease severity, reinforcing the hypothesis that additional factors contribute to the extensive intrafamilial variability.     

Guidelines for genomic array analysis in acquired haematological neoplastic disorders

Genetic profiling is important for disease evaluation and prediction of prognosis or responsiveness to therapy in neoplasia. Microarray technologies, including array comparative genomic hybridization and single‐nucleotide polymorphism‐detecting arrays, have in recent years been introduced into the diagnostic setting for specific types of haematological malignancies and solid tumours. It can be used as a complementary test or depending on the neoplasia investigated, also as a standalone test. However, comprehensive and readable presentation of frequently identified complex genomic profiles remains challenging. To assist diagnostic laboratories, standardization and minimum criteria for clinical interpretation and reporting of acquired genomic abnormalities detected through arrays in neoplastic disorders are presented. © 2016 Wiley Periodicals, Inc.     

Latent profile analysis of regression-based norms demonstrates relationship of compounding MS symptom burden and negative work events

Objective: We endeavored to clarify how distinct co-occurring symptoms relate to the presence of negative work events in employed multiple sclerosis (MS) patients. Latent profile analysis (LPA) was utilized to elucidate common disability patterns by isolating patient subpopulations. Method: Samples of 272 employed MS patients and 209 healthy controls (HC) were administered neuroperformance tests of ambulation, hand dexterity, processing speed, and memory. Regression-based norms were created from the HC sample. LPA identified latent profiles using the regression-based z-scores. Finally, multinomial logistic regression tested for negative work event differences among the latent profiles. Results: Four profiles were identified via LPA: a common profile (55%) characterized by slightly below average performance in all domains, a broadly low-performing profile (18%), a poor motor abilities profile with average cognition (17%), and a generally high-functioning profile (9%). Multinomial regression analysis revealed that the uniformly low-performing profile demonstrated a higher likelihood of reported negative work events. Conclusions: Employed MS patients with co-occurring motor, memory and processing speed impairments were most likely to report a negative work event, classifying them as uniquely at risk for job loss.     

The Association Between Therapeutic Horseback Riding and the Social Communication and Sensory Reactions of Children with Autism

This study investigated the association between therapeutic riding (TR) and the social communication and sensory processing skills of 21 elementary students with autism attending TR as part of a school group. An interrupted treatment design was employed to determine whether children were able to maintain treatment effects following the removal of TR. Teacher ratings indicated that participating children with autism significantly increased their social interaction, improved their sensory processing, and decreased the severity of symptoms associated with autism spectrum disorders following TR. Gains were not maintained consistently after two 6-week breaks from TR, but were recovered once TR was reinstated. Potential explanations regarding the benefits of TR are discussed, and suggestions for future research provided.     

Internet Use and Psychological Well-being among 10-year-old and 11-year-old Children

This paper uses data from the 2009 Kids’ Life and Times Survey, involving 3657 children aged 10 or 11 years old in Northern Ireland. The survey indicated high levels of use of Internet applications, including social-networking sites and online games. Using the KIDSCREEN-27 instrument, the data indicate that the use of social-networking sites and online games is related to poorer psychological well-being among girls, but not boys. Boys and girls who experience “cyberbullying” have poorer psychological well-being. This association between psychological well-being and some Internet applications merits more attention in future research and policy development.