Observed psychopathology in offspring of parents with major depressive disorder, bipolar disorder and schizophrenia.

BACKGROUND: Children of parents with mood and psychotic disorders are at elevated risk for a range of behavioral and emotional problems. However, as the usual reporter of psychopathology in children is the parent, reports of early problems in children of parents with mood and psychotic disorders may be biased by the parents' own experience of mental illness and their mental state. METHODS: Independent observers rated psychopathology using the Test Observation Form in 378 children and youth between the ages of 4 and 24 (mean = 11.01, s.d. = 4.40) who had a parent with major depressive disorder, bipolar disorder, schizophrenia, or no history of mood and psychotic disorders. RESULTS: Observed attentional problems were elevated in offspring of parents with major depressive disorder, bipolar disorder and schizophrenia (effect sizes ranging between 0.31 and 0.56). Oppositional behavior and language/thought problems showed variable degrees of elevation (effect sizes 0.17 to 0.57) across the three high-risk groups, with the greatest difficulties observed in offspring of parents with bipolar disorder. Observed anxiety was increased in offspring of parents with major depressive disorder and bipolar disorder (effect sizes 0.19 and 0.25 respectively) but not in offspring of parents with schizophrenia. CONCLUSIONS: Our results suggest that externalizing problems and cognitive and language difficulties may represent a general manifestation of familial risk for mood and psychotic disorders, while anxiety may be a specific marker of liability for mood disorders. Observer assessment may improve early identification of risk and selection of youth who may benefit from targeted prevention.

Hot and cold executive functions in youth with psychotic symptoms.

BACKGROUND: Psychotic symptoms are common in children and adolescents and may be early manifestations of liability to severe mental illness (SMI), including schizophrenia. SMI and psychotic symptoms are associated with impairment in executive functions. However, previous studies have not differentiated between 'cold' and 'hot' executive functions. We hypothesized that the propensity for psychotic symptoms is specifically associated with impairment in 'hot' executive functions, such as decision-making in the context of uncertain rewards and losses. METHODS: In a cohort of 156 youth (mean age 12.5, range 7-24 years) enriched for familial risk of SMI, we measured cold and hot executive functions with the spatial working memory (SWM) task (total errors) and the Cambridge Gambling Task (decision-making), respectively. We assessed psychotic symptoms using the semi-structured Kiddie Schedule for Affective Disorders and Schizophrenia interview, Structured Interview for Prodromal Syndromes, Funny Feelings, and Schizophrenia Proneness Instrument - Child and Youth version. RESULTS: In total 69 (44.23%) youth reported psychotic symptoms on one or more assessments. Cold executive functioning, indexed with SWM errors, was not significantly related to psychotic symptoms [odds ratio (OR) 1.36, 95% confidence interval (CI) 0.85-2.17, p = 0.204). Poor hot executive functioning, indexed as decision-making score, was associated with psychotic symptoms after adjustment for age, sex and familial clustering (OR 2.37, 95% CI 1.25-4.50, p = 0.008). The association between worse hot executive functions and psychotic symptoms remained significant in sensitivity analyses controlling for general cognitive ability and cold executive functions. CONCLUSIONS: Impaired hot executive functions may be an indicator of risk and a target for pre-emptive early interventions in youth.

Team Science Approach to Developing Consensus on Research Good Practices for Practice-Based Research Networks: A Case Study.

Using peer learning strategies, seven experienced PBRNs working in collaborative teams articulated procedures for PBRN Research Good Practices (PRGPs). The PRGPs is a PBRN-specific resource to facilitate PBRN management and staff training, to promote adherence to study protocols, and to increase validity and generalizability of study findings. This paper describes the team science processes which culminated in the PRGPs. Skilled facilitators used team science strategies and methods from the Technology of Participation (ToP®), and the Consensus Workshop Method to support teams to codify diverse research expertise in practice-based research. The participatory nature of "sense-making" moved through identifiable stages. Lessons learned include (1) team input into the scope of the final outcome proved vital to project relevance; (2) PBRNs with diverse domains of research expertise contributed broad knowledge on each topic; and (3) ToP® structured facilitation techniques were critical for establishing trust and clarifying the "sense-making" process.

Practice-based Research Network Research Good Practices (PRGPs): Summary of Recommendations.

INTRODUCTION: Practice-based research networks (PBRNs) conduct research in community settings, which poses quality control challenges to the integrity of research, such as study implementation and data collection. A foundation for improving research processes within PBRNs is needed to ensure research integrity. METHODS: Network directors and coordinators from seven U.S.-based PBRNs worked with a professional team facilitator during semiannual in-person meetings and monthly conference calls to produce content for a compendium of recommended research practices specific to the context of PBRNs. Participants were assigned to contribute content congruent with their expertise. Feedback on the draft document was obtained from attendees at the preconference workshop at the annual PBRN meeting in 2013. A revised document was circulated to additional PBRN peers prior to finalization. RESULTS: The PBRN Research Good Practices (PRGPs) document is organized into four chapters: (1) Building PBRN Infrastructure; (2) Study Development and Implementation; (3) Data Management, and (4) Dissemination Policies. Each chapter contains an introduction, detailed procedures for each section, and example resources with information links. CONCLUSION: The PRGPs is a PBRN-specific resource to facilitate PBRN management and staff training, to promote adherence to study protocols, and to increase validity and generalizability of study findings.

Safety and effectiveness of telemedicine for neurology outpatients.

BACKGROUND AND AIMS: Patients often wait many months to see a neurologist for the first time. With the introduction of targets for maximum waiting times there is a need for novel approaches. Real time telemedicine by videolink (VL) is one such method and we aimed to replicate this in Aberdeen. METHODS: Patients were seen by VL by two Irish-based neurologists, one experienced in telemedicine, the other not. A senior trainee neurologist present with some of the patients validated the telemedicine diagnosis and management with his own face-to-face (FE) assessment. Satisfaction was assessed by questionnaires. Numbers requiring investigations and review were recorded as were representations to neurology over six months. RESULTS: Forty-four patients were seen. Satisfaction was higher and review rates were similar to previous cohorts seen by FE and VL. There was no difference between the two neurologists. There was complete diagnostic agreement between the VL and FE neurologists. There was a diagnostic change in a single patient after six months follow-up. CONCLUSION: Neurology consultation using VL is safe and effective as well as acceptable, and the necessary skills were acquired rapidly by a telemedicine-naive neurologist. Telemedicine using VL can contribute to waiting list reduction, and is likely to be most useful in rural areas.

An all-Ireland epidemiological study of MND, 2004-2005.

BACKGROUND AND METHODS: We conducted an all-Ireland population-based prospective epidemiological survey of motor neurone disease (MND) using the Northern Ireland and Republic of Ireland MND registers to examine the incidence and prevalence of the disease over the period 2004-2005. RESULTS AND CONCLUSIONS: Incidence of MND was 1.9 per 100 000 person-years and rates were comparable in both the north and south of Ireland. Prevalence of MND was 5.0 per 100 000 population. When compared with previous published surveys of MND performed in the Republic of Ireland over the last 10 years, rates of disease have remained relatively constant. When standardized to the 1990 US population, the incidence of MND in Ireland was found to be consistent with other European prospective surveys of MND.

Oxygen consumption is increased relative to work rate in patients with McArdle's disease.

BACKGROUND: Patients with McArdle's disease suffer exercise incapacity as a result of myophosphorylase deficiency, and for a given work rate have excessive circulatory and ventilatory responses. We hypothesized that the rate of increase of oxygen consumption with work rate (DeltaVO2-DeltaWR slope) would also be elevated in such patients as a result of these excessive responses. PATIENTS AND METHODS: Five patients with McArdle's disease and five matched controls carried out a maximal incremental cardiopulmonary exercise test. Controls then carried out a second test matched to the maximal test of a paired patient. Venous blood was sampled at rest, peak exercise and recovery. RESULTS: During the matched test, the DeltaVO2-DeltaWR slope was higher in the patients than in the controls [19.9 (15.0-24.6) vs. 11.7 (9.2-13.5) mL min(-1) W(-1); mean (range); P = 0.022], and the peak-achieved VO2 was also greater in the patient group [1201 (890-1575) vs. 918 (599-1248) mL min(-1); P = 0.003]. A similar pattern was observed for heart rate [173 (165-182) vs. 108 (105-134) b.p.m.; P = 0.001] and plasma norepinephrine levels [12.6 (9.2-19.9) vs. 2.9 (2.2-4.9) nmol l(-1); P = 0.003]. CONCLUSION: There is an increased rate of rise in VO2 relative to work rate during exercise in patients with McArdle's disease. There is also a greater rise in catecholamines, which may be the result of a physiological response to substrate starvation, and is likely to contribute to the increase in VO2.

A cohort study of early neurological consultation by telemedicine on the care of neurological inpatients.

OBJECTIVES: To find out the effect of early neurological consultation using a real time video link on the care of patients with neurological symptoms admitted to hospitals without neurologists on site. METHODS: A cohort study was performed in two small rural hospitals: Tyrone County Hospital (TCH), Omagh, and Erne Hospital, Enniskillen. All patients over 12 years of age who had been admitted because of neurological symptoms, over a 24 week period, to either hospital were studied. Patients admitted to TCH, in addition to receiving usual care, were offered a neurological consultation with a neurologist 120 km away at the Neurology Department of the Royal Victoria Hospital, Belfast, using a real time video link. The main outcome measure was length of hospital stay; change of diagnosis, mortality at 3 months, inpatient investigation, and transfer rate and use of healthcare resources within 3 months of admission were also studied. RESULTS: Hospital stay was significantly shorter for those admitted to TCH (hazard ratio 1.13; approximate 95% CI 1.003 to 1.282; p = 0.045). No patients diagnosed by the neurologist using the video link subsequently had their diagnosis changed at follow up. There was no difference in overall mortality between the groups. There were no differences in the use of inpatient hospital resources and medical services in the follow up period between TCH and Erne patients. CONCLUSIONS: Early neurological assessment reduces hospital stay for patients with neurological conditions outside of neurological centres. This can be achieved safely at a distance using a real time video link.

Email triage of new neurological outpatient referrals from general practice.

OBJECTIVES: To determine whether an email triage system between general practitioners and a neurologist for new outpatient referrals is feasible, acceptable, efficient, safe, and effective. METHODS: This was a prospective single cohort study on the interface between primary care practitioners and the neurology clinic of a district general hospital. Seventy six consecutive patients with neurological symptoms from nine GPs, for whom a specialist opinion was deemed necessary, were entered in the study. The number of participants managed without clinic attendance and the reduction in neurologist's time compared with conventional consultation was measured, as was death, other specialist referral, and change in diagnosis in the 6 months after episode completion. The acceptability for GPs was ascertained by questionnaire. RESULTS: Forty three per cent of participants required a clinic appointment, 45% were managed by email advice alone, and 12% by email plus investigations. GP satisfaction was high. Forty four per cent of the neurologist's time was saved compared with conventional consultation. No deaths or significant changes in diagnosis were recorded during the 6 month follow up period. CONCLUSIONS: Email triage is feasible, acceptable to GPs, and safe. It has the potential for making the practice of neurologists more efficient, and this needs to be tested in a larger randomised study.

Superficial siderosis of the central nervous system many years after neurosurgical procedures.

Recurrent haemorrhage into the subarachnoid space causes superficial siderosis, which clinically manifests as cerebellar ataxia, sensorineural hearing loss, and myelopathy. Two patients developed clinical, radiological, and biochemical evidence of superficial siderosis many years after surgery. One had two posterior fossa operations, a left temporal craniectomy, and radiotherapy for a presumed brain tumour before developing clinical evidence of superficial sidersosis 37 years later. The other had small bilateral subdural collections from recurrent shunt revisions following posterior fossa surgery for a Chiari malformation, and then developed deafness and ataxia. The first patient currently has the longest recorded delay between presumed subarachnoid bleeding and clinical manifestations of superficial siderosis. Both patients provide further evidence that superficial siderosis of the central nervous system, a progressive neurodegenerative vascular condition, may be a delayed complication of neurosurgical procedures.

Telemedicine--the way ahead for medicine in the developing world.

An e-mail link with the facility to send high-resolution digital images is a cheap and uncomplicated telemedicine method. The Swinfen Charitable Trust helped establish such a link in Patan Hospital Kathmandu, Nepal in March 2000. Over 12 months using this link 42 telemedicine referrals were sent to specialists throughout the world. Referrals were: 36% respiratory medicine; 21% neurology, 21% dermatology; 14% cardiology; 5% nephrology; and 3% radiology--28 had digital pictures attached, of which 96% were of high enough quality on which specialists were able to comment. Thirty-nine replies were received. The average time for a specialist reply was 2 days, and 45% were answered within 24 hours. All replies were judged by independent assessors to be helpful or very helpful for diagnosis, management and education. The assessors decided that in 50% of cases the advice if acted upon would have shortened hospital stay. This pilot study has shown that a low-cost telemedicine link is technically feasible and can be of significant benefit for diagnosis, management and education in a developing world setting.

Store-and-forward teleneurology in developing countries.

We assessed the feasibility of a store-and-forward email teleneurology service between a UK neurologist and a rehabilitation hospital in Bangladesh. Over 12 months, email advice was requested for 12 patients (mean age 43 years, range 15-57 years). Each patient generated an average of 5.2 email messages. Eight cases were considered complicated by the neurologist, who would have preferred a video-link consultation for these. The referring doctor found the neurologist's advice beneficial in 75% of the complex cases and in all of the more straightforward cases. Patient care was changed in 50% of the cases as a result of the specialist advice and one patient transfer out of the country was avoided. Store-and-forward teleneurology is effective for delivering expert neurological advice.

Cost implications of outpatient teleneurology.

A randomized controlled trial was conducted to compare the costs of realtime teleneurology with the cost of conventional neurological care. Two district hospitals in Northern Ireland were equipped with videoconferencing units and were connected to the regional neurological centre by ISDN at 384 kbit/s. Of 168 patients randomized to the study, 141 kept their appointments (76 male, 65 female). Sixty-five patients were randomized to a conventional consultation while 76 were randomized to a teleconsultation. The average age was 44 years of those seen conventionally and 42 years of those seen by telemedicine. The groups had similar diagnoses. The telemedicine group required more investigations and reviews than the conventional group. The average cost of the conventional consultation was 49 pounds sterling compared with 72 pounds sterling for the teleconsultation. Realtime teleneurology was not as cost-effective as conventional care.

Randomised controlled trial of telemedicine for new neurological outpatient referrals.

OBJECTIVE: To test the hypothesis that telemedicine for new patient referrals to neurological outpatients is as efficient and acceptable as conventional face to face consultation. METHODS: A randomised controlled trial between two groups: face to face (FF) and telemedicine (TM). This study was carried out between a neurological centre and outlying clinics at two distant hospitals linked by identical medium cost commercial interactive video conferencing equipment with ISDN lines transmitting information at 384 kbits/s. The same two neurologists carried out both arms of the study. Of the 168 patients who were suitable for the study, 86 were randomised into the telemedicine group and 82 into the face to face group. Outcome measures were (1) consultation process: (a) number of investigations; (b) number of drugs prescribed; (c) number of patient reviews and (2) patient satisfaction: (a) confidence in consultation; (b) technical aspects of consultation; (c) aspects surrounding confidentiality. Diagnostic categories were also measured to check equivalence between the groups: these were structural neurological, structural non-neurological, non-structural, and uncertain. RESULTS: Diagnostic categories were similar (p>0.5) between the two groups. Patients in the telemedicine group had significantly more investigations (p=0.001). There was no difference in the number of drugs prescribed (p>0.5). Patients were generally satisfied with both types of consultation process except for concerns about confidentiality and embarrassment in the telemedicine group (p=0.017 and p=0.005 respectively). CONCLUSION: Telemedicine for new neurological outpatients is possible and feasible but generates more investigations and is less well accepted than face to face examination.

SPG15, a new locus for autosomal recessive complicated HSP on chromosome 14q.

The authors studied two families with autosomal recessive hereditary spastic paraplegia (HSP) complicated by the presence of additional symptoms of pigmented maculopathy, distal amyotrophy, dysarthria, mental retardation, and further intellectual deterioration. Evidence was obtained for linkage to a locus on chromosome 14q that is distinct from the SPG3 locus for autosomal dominant HSP (D14S77: lod score of 4.20 at zero recombination). Haplotype construction of nearby markers confirms the existence of this novel HSP locus (SPG15) and narrows it to a 19-cM interval flanked by D14S1038 and D14S61.