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Objective To evaluate the impact of sodium benzoate and dextromethorphan treatment on patients with the attenuated form of nonketotic hyperglycinemia. Study design Families were recruited with 2 siblings both affected with attenuated nonketotic hyperglycinemia. Genetic mutations were expressed to identify residual activity. The outcome on developmental progress and seizures was compared between the first child diagnosed and treated late with the second child diagnosed at birth and treated aggressively from the newborn period using dextromethorphan and benzoate at dosing sufficient to normalize plasma glycine levels. Both siblings were evaluated with similar standardized neurodevelopmental measures. Results In each sibling set, the second sibling treated from the neonatal period achieved earlier and more developmental milestones, and had a higher developmental quotient. In 3 of the 4 sibling pairs, the younger sibling had no seizures whereas the first child had a seizure disorder. The adaptive behavior subdomains of socialization and daily living skills improved more than motor skills and communication. Conclusions Early treatment with dextromethorphan and sodium benzoate sufficient to normalize plasma glycine levels is effective at improving outcome if used in children with attenuated disease with mutations providing residual activity and when started from the neonatal period.

Background/Introduction: Literacy difficulties have significant long-term impacts on individuals, and therefore early identification and intervention are critical. Access to experienced professionals who conduct standardized literacy assessments with children is limited in rural and remote areas. The emerging literature supports the feasibility of using telepractice to overcome barriers to accessing specialist literacy assessment. The current study sought to determine the feasibility and reliability of telepractice assessments, using consumer-grade technology, in children with reading difficulties.Thirty-seven children, aged 8 to 12 years, with reading difficulties, attended a multidisciplinary reading clinic. Children completed literacy assessments delivered via a web-based application by a remotely located research assistant. A teacher was stationed with the child and coscored the assessments. Scores and qualitative observations of the two assessors were compared.Spearman's correlation analyses revealed strong agreement between telepractice- and face-to-face-rated scores (r = 0.79-0.99). Bland-Altman plots indicated excellent agreement between derived scores. Parents reported a high degree of comfort with the telepractice assessments. Clinicians reported the audio and video quality was sound in most cases.Web-based technology can enable remote delivery of literacy assessments. The technology has the potential to increase the availability of assessments to meet the needs of children who live remotely, in a timely manner and at their family's convenience.

Individuals with Prader-Willi syndrome (PWS) have a significant reduction in the number of oxytocin-producing neurons (42%) in the hypothalamic paraventricular nucleus. A number of animal studies and observations of humans show that lesions in this region can produce PWS-like symptoms. Given the evidence for potential oxytocin deficiency, we tested the effects of a course of intranasal oxytocin on PWS symptoms. Thirty individuals with PWS aged 12-30 years participated in an 18-week randomized double-blind placebo-controlled crossover trial. Participants received 8 weeks of oxytocin and 8 weeks of placebo with a minimum 2-week washout period. The first 11 participants received the following oxytocin doses: 24 IU (twice daily) B.I.D for participants 16 years and over and 18 IU B.I.D for participants 13-15 years. The dose was increased for the remaining 18 participants to 40 IU B.I.D for participants 16 years and over and 32 IU B.I.D for 13-15 years. Measures used to assess changes were standardized well-accepted measures, including the Developmental Behavior Checklist-Monitor, Parent, Teacher, and Adult; The Yale-Brown Obsessive Compulsive Scale; The Dykens Hyperphagia questionnaire; Reading The Mind in the Eyes Test; Epworth Sleepiness Scale and the Movie Stills. Oxytocin had little impact on any measure. The only significant difference found between the baseline, oxytocin, and placebo measures was an increase in temper outbursts (P = 0.023) with higher dose oxytocin. The lack of effect of oxytocin nasal spray may reflect the importance of endogenous release of oxytocin in response to exogenous oxytocin.

The current study aims to evaluate the psychometric properties of the Emotion Regulation and Social Skills Questionnaire (ERSSQ), a rating scale designed specifically to assess the social skills of young people with Autism Spectrum Disorder (ASD). The participants were 84 children and young adolescents with ASD, aged between 7.97 and 14.16 years with a mean IQ score of 90.21 (SD = 18.82). The results provide evidence for the concurrent and criterion validity of the ERSSQ Parent form, and the concurrent validity of the ERSSQ Teacher form. The clinical and theoretical implications are discussed, including the necessity of ratings across multiple contexts and the potential use of the ERSSQ in identifying individuals most in need of intervention and for planning and assessing the outcomes of social skills interventions.

The incidence of human immunodeficiency virus type 1 (HIV-1) infection among opiate users was determined in a retrospective cohort of 436 patients with multiple admissions to the only inpatient drug treatment program in northern Thailand between October 1993 and September 1995. During 323.4 person-years of follow-up, 60 patients presenting for detoxification acquired HIV-1 infection, for a crude incidence rate of 18.6 per 100 person-years (95% confidence interval 14.4-23.9). All seroconverters were male. HIV-1 incidence varied by the current route of drug administration: 31.3 per 100 person-years for injectors and 2.8 per 100 person-years for noninjectors (smoking and ingestion). Significant differences were found by ethnicity: HIV-1 incidence was 29.3 per 100 person-years for Thai lowlanders and 8.5 per 100 person-years for hill tribes. Multivariate relative risk estimates showed that injecting opiates (vs. use by other routes), being unmarried, being under age 40 years, being a Thai lowlander, having a primary and secondary education, and being employed in the business sector were each independently associated with human immunodeficiency virus seroconversion. This HIV-1 incidence rate is double that reported for Bangkok and suggests that prevention and control programs for drug users need to be expanded throughout Thailand. Improved availability of more-effective treatment regimens and increased access to sterile injection equipment are needed to confront the HIV-1 epidemic among opiate users in northern Thailand.The incidence of HIV-1 infection among opiate users was assessed in a retrospective cohort of 436 patients with multiple admissions to the only inpatient drug treatment program in northern Thailand between October 1993 and September 1995. During 323.4 person-years of follow-up, 60 patients presenting for detoxification acquired HIV-1 infection, for a crude incidence rate of 18.6/100 person-years. All seroconverters were male. HIV-1 incidence varied by the current route of drug administration: 31.3/100 person-years for injectors and 2.8/100 person-years among those who smoked or ingested the drug. HIV-1 incidence was 29.3/100 person-years for Thai lowlanders and 8.5/100 person-years for hill tribes. Multivariate analysis found that injecting opiates, being unmarried, being under age 40 years, being a Thai lowlander, having a primary and secondary education, and being employed in the business sector were each independently associated with HIV seroconversion. The HIV-1 incidence rate in this population is double that reported for Bangkok. As such, HIV prevention and control programs for drug users need to be expanded throughout Thailand. Moreover, improved availability of more effective treatment regimens and increased access to sterile injection equipment are needed to confront the HIV-1 epidemic among opiate users in northern Thailand.

Splenic cysts are rare lesions that can occur in parasitic and non-parasitic forms. Because they are uncommon, the classification, pathogenesis, and management techniques are still debated. The continual review of splenic cyst cases in the pediatric population is essential for establishing a clear diagnosis and course of treatment. This report presents 21 cases of pediatric splenic cysts observed at Children's Healthcare of Atlanta over an 18 year period (1993-2011). The cases include both parasitic and and nonparasitic cysts. The current splenic cyst classification and treatment methods are analyzed through a review of the current theories and based on our experiences.

To assess changes in bimaxillary morphology in patients with Class II division I malocclusion treated using Twin Block appliances (TBA), pre- and posttreatment lateral cephalographs of 100 patients seven to 16 years of age were compared. The patients were divided into four groups: (1) prepubertal boys (mean treatment time; 13.6+/-4.0 months), (2) adolescent boys (20.1+/-7.7 months), (3) prepubertal girls (12.3+/-1.4 months), and (4) adolescent girls (22.3+/-6.7 months). Five landmarks were digitized on pre- and posttreatment cephalographs for all groups, and the resulting configurations were analyzed using linear analysis, Euclidean Distance Matrix Analysis (WinEDMA), and Thin Plate Spline (TPS) analysis. Results of linear analysis indicated anteroposterior midfacial distances generally increased in all groups. In contrast, WinEDMA indicated that midfacial distances proportionately decreased in all groups treated with TBA. Graphical analysis with TPS showed anteroposterior compression of the configurations, most marked in the region of Prosthion. The affine components of the configurations following the TBA treatment indicated little deformation, but the nonaffine components demonstrated posterior displacement of Prosthion. Thus, improvements in facial balance following TBA treatment are associated with a relative restriction of anterior displacement within the midfacial complex as well as maxillary dento-alveolar effects. Orthodontic treatment methods exerting growth-inhibitory effects within the maxilla may be useful in the correction of Class II division I malocclusions.

To investigate the effectiveness of foot orthoses in the management of plantar pressure and pain in subjects with rheumatoid arthritis.A repeated measures study in which the independent variable was orthosis design. Dependent variables, including pressure, gait and pain parameters, were examined using analysis of variance and correlation statistics.The aim of orthotic management of the rheumatoid foot is to relieve metatarsalgia through the reduction of metatarsal head pressure. Few studies have investigated the relative effectiveness of different orthosis designs. To date, no studies have examined the relationship between plantar pressure and second metatarsal head pain in rheumatoid arthritis subjects.Twelve rheumatoid arthritis subjects with foot involvement and second metatarsal head pain were tested. Four styles of foot orthosis (prefabricated, standard custom moulded, custom with metatarsal bar, custom with metatarsal dome) were compared to a shoe only control. An EMED Pedar system was used to measure plantar pressure during repeated trials of comfortable cadence walking and quiet standing. Reports of subjective pain were recorded for each orthosis as were orthosis preferences.All orthoses significantly reduced pressure beneath the first and second metatarsal heads compared to the shoes only control. The custom moulded orthosis with metatarsal dome was the most effective orthosis for reducing subjective ratings of pain. A significant correlation (r=0.562) was found between ratings of pain and average pressure beneath the second metatarsal head.Results from this study suggest that average pressure measurement may be a useful indicator in the management of metatarsalgia in RA. Further study is required to improve understanding of the relationship between rheumatoid foot mechanics and pain.Appropriate foot orthosis design can substantially improve comfort in RA patients with symptomatic feet. A custom moulded foot orthosis incorporating a metatarsal dome was the most effective design for subjects with painful second metatarsal heads. Foot pressure measurement technology can be a useful adjunct to research and clinical management of the painful rheumatoid foot.

The driving force behind the restructuring of American health care delivery is the perceived inability of employers to continue to bear the escalating costs of health care. With the failure of governmental reform, restructuring has evolved to the free market in the form of managed care, which is exposing the central cost problem--enormous over-capacity of physicians and hospitals. Policies designed to hasten the end of over-capacity are called for in contrast to many being presently pursued, which are likely to prolong it.

Setting priorities and selecting topics are important steps in guidelines development, but they have received relatively little attention to date. Responses from a survey of guidelines stakeholders in Canada suggest that the health burden of a clinical condition on the population is an important factor in priority setting. Economic considerations, cast as either costs of treatment to the health care system or the economic burden of illness to society, are given varying importance by different stakeholder groups. Drawing on the literature and the survey results, the authors propose a framework for priority setting. Important issues requiring consideration include the role of public and community participation, the need for and appropriate emphasis on quantitative data regarding current practice and its variation, and mechanisms to link guidelines to health-policy development and management of the health care system.

This study investigated the effectiveness of oral myofunctional therapy in eliminating a 16 year-old girl's tongue thrust swallowing pattern and mild sibilant distortion. An ABC design was used where Phase A had eight baseline sessions (no treatment), Phase B had 14 oral myofunctional therapy sessions, and Phase C had four articulation treatment sessions. Dependent measures of swallowing and sibilant production were obtained in each session. A third dependent variable, labial diadochokinetic rate, was also measured each session and served as a control for maturation. Oral myofunctional therapy was shown to be effective in eliminating the tongue thrust swallowing pattern of this subject, but not her sibilant distortion. However, her sibilant distortion reduced after one articulation treatment session and was maintained at negligible levels over the next three treatment sessions. As expected, labial diadochokinetic rate remained stable across the three phases. At the conclusion of Phase C, two bi-weekly home visits revealed that the subject had maintained and generalized her new swallowing pattern. Measures obtained six months after completion of Phase C indicated that the subject had maintained her new swallowing and speech production behaviors. The subject's maximal tongue strength and endurance were below expected normal values at the initiation of the study and increased during the study. Her tongue endurance appeared more sensitive to the effects of oral myofunctional training than tongue strength and, unlike tongue strength, tongue endurance decreased in the six month period following completion of the study.

The organizing committee of a workshop on clinical practice guidelines (CPGs) surveyed invited organizations on their attitudes and activities related to five topics to be covered during the workshop sessions: organizational roles, priority setting, guidelines implementation, guidelines evaluation and development of a network of those active in the CPG field. Organizational roles: The national specialty societies were felt to have the largest role to play; the smallest roles were assigned to consumers, who were seen to have a role mainly in priority setting, and to industry and government, both of which were seen to have primarily a funding role. Many barriers to collaboration were identified, the solutions to all of which appeared to be better communication, establishment of common principles and clear role definitions. Priority setting: There was considerable agreement on the criteria that should be used to set priorities for CPG activities: the burden of disease on population health, the state of scientific knowledge, the cost of treatment and the economic burden of disease on society were seen as important factors, whereas the costs of guidelines development and practitioner interest in guidelines development were seen as less important. Organizations were unable to give much information on how they set priorities. Guidelines implementation: Most of the organizations surveyed did not actively try to ensure the implementation of guidelines, although a considerable minority devoted resources to implementation. The 38% of organizations that implemented guidelines actively listed a wide variety of activities, including training, use of local opinion leaders, information technology, local consensus processes and counter detailing. Guidelines evaluation: Formal evaluation of guidelines was undertaken by fewer than 13% of the responding organizations. All the evaluations incorporated assessments before and after guideline implementation, and some used primary patient data. Barriers to evaluation included lack of money, time, data or expertise. CPG Network: Most of the respondents felt that all organizations and individuals interested or involved in guidelines should form the membership of the network. The three most important functions of such a network were deemed to be (a) to facilitate collaboration among those involved in the CPG process, (b) to maintain an information centre on CPGs and (c) to provide expertise to the CPG process. It was felt that the network should have some formal structure and communicate through e-mail and print media.

This draft joint statement by the Royal Australian College of General Practitioners and the Pharmaceutical Society of Australia Ltd is published here for comment as a national initiative. All suggestions received will be considered before a final statement is adopted.

Qualitative research with GPs, pharmacists and consumers explored their views of patients' needs for drug information, and perceived difficulties in communication between GPs, patients and pharmacists. Strategies suggested by participants for improving patient drug education were: guidelines for giving information on medication; conventions for writing the prescription; a referral mechanism from the pharmacist to the GP; distribution of patient education materials; professional bodies to reduce ethical and organisational barriers to inter professional communication; and the development of local networks and education programs.

A rationale to guide assessment and subsequent management of children with developmental speech disorders is described. Hypotheses about the nature of praxis, the role of oral-verbal praxis in linguistic processing and speech development, and the effects of disturbances in praxis on speech behavior are presented. Implications of a diagnosis of developmental apraxia of speech (DAS) for treatment planning and expected speech, language, and social communication outcomes are discussed. Misconceptions about children diagnosed with DAS and assumptions underlying the author's approach to assessing children with DAS are identified. The desired functional outcome of the assessment approach advocated is a management plan that addresses the needs of the child and family and maximizes the child's ability to communicate.