EAST/SeSAME syndrome: Review of the literature and introduction of four new Latvian patients.

EAST (Epilepsy, Ataxia, Sensorineural deafness, Tubulopathy) or SeSAME (Seizures, Sensorineural deafness, Ataxia, Mental retardation, and Electrolyte imbalance) syndrome is a rare autosomal recessive syndrome first described in 2009 independently by Bockenhauer and Scholl. It is caused by mutations in KCNJ10, which encodes Kir4.1, an inwardly rectifying K+ channel found in the brain, inner ear, kidney and eye. To date, 16 mutations and at least 28 patients have been reported. In this paper, we review mutations causing EAST/SeSAME syndrome, clinical manifestations in detail, and efficacy of treatment in previously reported patients. We also report a new Latvian kindred with 4 patients. In contrast to the majority of previous reports, we found a progressive course of the disorder in terms of hearing impairment and neurologic deficit. The treatment is based on antiepileptic drugs, electrolyte replacement, hearing aids and mobility devices. Future research should concentrate on recognizing the lesions in the central nervous system to evaluate new potential diagnostic criteria and on formally evaluating intellectual disability.

Drug-based pain management in people with dementia after hip or pelvic fractures: a systematic review protocol.

BACKGROUND: Studies show that people with dementia do not receive the same amount of analgesia after a hip or pelvic fracture compared to those without cognitive impairment. However, there is no systematic review that shows to what extent and how drug-based pain management is performed for people with dementia following a hip or pelvic fracture. The aim of this systematic review is to identify studies addressing drug-based pain management for people with dementia who have had a hip or pelvic fracture for which they had either an operation or conservative treatment. We will analyse to what extent and how the drug-based pain treatment for people with dementia is performed across all settings and how it is assessed in the studies. METHODS: The development of this systematic review protocol was guided by the PRISMA-P requirements, which will be taken into consideration during the review procedure. MEDLINE, EMBASE, CINAHL, Web of Knowledge and ScienceDirect will be searched, using keywords such as "analgesia", "dementia", "cognitive impairment", "pain treatment", "hip fracture" or "pelvic fracture". Publications published up to January 2016 will be included. The data extraction and a content analysis will be carried out systematically, followed by a critical appraisal. DISCUSSION: This review will provide a valuable overview on the current evidence on drug-based pain management for PwD in all settings who were conservatively treated after a hip or pelvic fracture. The review may expose a need to enhance pain management for PwD. It may also provide motivation for healthcare providers and policymakers to give this topic their attention and to facilitate further research by considering aspects of care transitions in all settings. SYSTEMATIC REVIEW REGISTRATION: PROSPERO CRD42016037309.

[Handover between home and respite care facilities : Delphi survey within the context of continuity of care for people with dementia]. / Überleitung zwischen Häuslichkeit und Kurzzeitpflege : Delphi-Befragung im Rahmen der Versorgungskontinuität von Menschen mit Demenz.

BACKGROUND: Criteria for the handover between healthcare settings were identified based on a review and on results of empirical data. AIM: This study was carried out to select the most relevant criteria for defining the quality of continuity of care of people with dementia (PwD) in the context of the handover between care at home and respite care facilities. MATERIAL AND METHODS: A modified classical two-step Delphi design was used in combination with a group Delphi design. RESULTS: A total of 28 core criteria with a consensus strength of > 60 % are presented. Safety-relevant information, especially the personal habits of PwD and the role of informal caregivers in the handover between care settings are important. Furthermore, the following general principles to ensure the quality of continuity of the care of PwD were deduced: completeness, verification, multipath communication, timeliness and topicality, accessibility and defined responsibilities, roles and standardization. DISCUSSION: A successful transition of PwD to respite care facilities relies on the provision of relevant information, considering personal habits, before the day of transition. Furthermore, a timely preparation for discharge is important. The individual needs of the informal caregivers with regard to their support should be considered. Professionals who are responsible in handover processes should have solid communication competence in order to collect relevant information from informal caregivers, who have a strong individual care experience with the PwD.

[People with dementia between home and respite care: quality assurance for cross-over communication, a systematic review]. / Menschen mit Demenz zwischen Häuslichkeit und Kurzzeitpflege: Qualitätssicherung settingübergreifender Kommunikation, ein systematischer Review.

INTRODUCTION: To identify safety-relevant communication structures and processes considering the handover between home and respite care for people with dementia (PwD). METHOD: In a systematic review, MEDLINE, -EMBASE, Cochrane Library, CINAHL, PsycINFO and GeroLit were searched for publications indexed until April 2011 including a search via Google and Google scholar. An update for publications indexed between May 2011 and December 2012 was added. OUTCOMES: A total of 1 832 search results were identified and one relevant publication of a project for PwD to improve the handover between settings was included. With regard to that project, additional literature was identified. CONCLUSION: The practice-based project identified through the literature search could be suitable to improve handover communication between home and respite care for PwD after further validation. A large gap in the evidence with regard to the research question was identified.

[Patient safety indicators for medication safety (AMTS-PSI): international status, transferability and validation]. / Patientensicherheitsindikatoren zur Arzneimitteltherapiesicherheit (AMTS-PSI): Internationaler Status, Übertragbarkeit und Validierung*

BACKGROUND: The aim of this project was to identify international patient safety indicators used for medication safety (AMTS-PSI), to evaluate the validity by a panel of experts, and to examine the transfer of the international AMTS-PSI to the pharmacotherapy care of the German Health Care System. It was part of the "Agenda for the Improvement of Medication Safety 2008/2009 in Germany" of the German Ministry of Health. METHOD: National and international AMTS-PSI were identified by a systematic review (Set 1). To define patient safety indicators as a subdivision of quality indicators, the indicators were categorised by patient's risk of adverse drug events and the degree of prevention (Set 2). Duplicates of AMTS-PSI were excluded (Set 3). The content validity was determined by the "qualify-instrument" on categories "relevance", "evidence" and "feasibility". This process was based on a double-stage Delphi method. The transferability to the pharmacotherapy care of the German Health Care System of the AMTS-PSI was evaluated (Set 4). RESULTS: 385 AMTS-indicators were identified. The categorisation resulted in a set of 40 AMTS-PSI, 20 AMTS-PSI were excluded. The evaluation of the validity by the "qualify-instrument" and the transferability resulted in a set of 14 for the stationary, ambulant sector. They also were valid for both sectors. CONCLUSION: An AMTS-PSI-set was identified by a systematic review and recognised as valid for transferring it to the pharmacotherapy care of the German Health Care System by the "qualify-instrument". These 14 AMTS-PSI are mainly characterised by their relevance. Before using these indicators in practice, their further operationalisation seems necessary.

[Gender and phoneme discrimination ability]. / Ist die Lautdiskriminationsfähigkeit geschlechtsabhängig?

BACKGROUND: Boys tend to acquire language skills later than girls. Furthermore, specific language impairment and dyslexia are more often diagnosed in males than in females indicating that efficiency of phonological processing may be gender dependent. Phoneme discrimination tests tap some phonological processing abilities. Here we raised the question if phoneme discrimination abilities in male preschool children are inferior to female's phoneme discrimination abilities thus indicating less efficient phonological processing in boys. METHODS: Participants were 161 preschool children. Phoneme discrimination was tested using minimal pair (MP) reproduction. MP were either real words or nonwords (logatoms) presented in duplets or triplets. Children were asked to repeat what they had heard (immediate serial recall task). Statistical analyses were performed using Mann-Whitney-U-tests. RESULTS: Neither a correlation was seen between gender and phoneme discrimination sum scores (i. e. all items) nor between gender and scores of each item block. DISCUSSION: Results indicate no difference between male and female children in regard to those phonological processes and representations being tapped by the test procedure employed here.

[Verbal learning and memory test in children. Analysis of it environmental validity]. / Verbaler Lern- und Merkfähigkeitstest. Untersuchungen zur ökologischen Validität.

BACKGROUND: The VLMT (auditory verbal learning and memory test) was constructed for use in children and adults. This study aimed at investigating the ecological validity in children. METHODS: In a retrospective study, data from 384 children were investigated. Correlations between the VLMT and a newly developed questionnaire (AVWS-Q) probing auditory processing skills were calculated. RESULTS: Significant albeit very weak correlations between VLMT items and AVWS-Q items were found. DISCUSSION: Results indicate that VLMT performance cannot be predicted by the AVWS-Q (neither as a sum score nor as questions regarding memory skills alone). Either the ecological validity of the VLMT has to be considered poor or the AVWS-Q does not probe memory skills sufficiently.

[Subjective assessment of auditory processing deficits and perceptual performance in children]. / Untersuchungen zur subjektiven Einschätzung der Beeinträchtigung auditiver Verarbeitungs- und Wahrnehmungsleistungen bei Kindern.

BACKGROUND: Auditory processing disorders (APD) result from dysfunctions in processes dedicated to audition. They effect the processing of information in the auditory modality. Besides several audiometric procedures, the suggestion has been made to use a newly developed questionnaire to assess APD; however, data on the reliability and validity of this psychometric tool are still lacking. METHODS: In a retrospective analysis, questionnaire data from 483 children referred to us because of suspected APD were examined and a factorial analysis was performed. RESULTS: Only one factor could be extracted. However, this did not explain much of the variance. DISCUSSION: According to our results, APD can be assumed to be a one dimensional construct. In addition, noise hypersensitivity may be separable from other APD complaints.