Bone mineral density and fractures in institutionalised children with epilepsy and intellectual disability

Background Long-term use of antiseizure drugs is associated with a low bone mineral density (BMD) and an increased fracture risk. The literature regarding institutionalised children on chronic antiseizure drugs is limited. Therefore, the aim of this cross-sectional study is to evaluate the prevalence of low BMD and the history of fractures in institutionalised children with epilepsy and intellectual disability (ID). Methods A dual-energy X-ray absorptiometry of lumbar spine (L1-L4) and hip was performed in 24 children, residing in a long-stay care facility in the Netherlands. Additionally, serum concentrations of albumin, calcium and 25-hydroxyvitamin D were determined. Data on fractures were retrospectively extracted from the medical files. Results Ages of the children (14 male and 10 female) ranged from 5 to 17 years with a mean age of 13.0 (+/- 3.2). The criteria of the International Society for Clinical Densitometry (ISCD) were used for classification of bone mineral disorders. Eight (33.3%) children had a normal BMD (Z-score > - 2.0). Of the 16 children with a low BMD (Z-score <= - 2.0), three were diagnosed as osteoporotic, based on their fracture history. Ten children (41.7%) were reported to have at least one fracture in their medical history. Serum concentrations of albumin-corrected calcium (2.28-2.50 mmol/L) and (supplemented) vitamin D (16-137 nmol/L) were within the normal range. Conclusions This study demonstrated that 67% of institutionalised children with epilepsy and ID had low BMD and 42% had a history of at least one fracture, despite supplementation of calcium and vitamin D in accordance with the Dutch guidelines

Potential barriers and facilitators for implementation of an integrated care pathway for hearing-impaired persons: an exploratory survey among patients and professionals

BACKGROUND: Because of the increasing costs and anticipated shortage of Ear Nose and Throat (ENT) specialists in the care for hearing-impaired persons, an integrated care pathway that includes direct hearing aid provision was developed. While this direct pathway is still under investigation, in a survey we examined expectations and potential barriers and facilitators towards this direct pathway, of patients and professionals involved in the pathway. METHODS: Two study populations were assessed: members of the health professions involved in the care pathway for hearing-impaired persons (general practitioners (GPs), hearing aid dispensers, ENT-specialists and clinical audiologists) and persons with hearing complaints. We developed a comprehensive semi-structured questionnaire for the professionals, regarding expectations, barriers, facilitators and conditions for implementation. We developed two questionnaires for persons with hearing complaints, both regarding evaluations and preferences, and administered them after they had experienced two key elements of the direct pathway: the triage and the hearing aid fitting. RESULTS: On average GPs and hearing aid dispensers had positive expectations towards the direct pathway, while ENT-specialists and clinical audiologists had negative expectations. Professionals stated both barriers and facilitators towards the direct pathway. Most professionals either supported implementation of the direct pathway, provided that a number of conditions were satisfied, or did not support implementation, unless roughly the same conditions were satisfied. Professionals generally agreed on which conditions need to be satisfied. Persons with hearing complaints evaluated the present referral pathway and the new direct pathway equally. Many, especially older, participants stated however that they would still visit the GP and ENT-specialist, even when this would not be necessary for reimbursement of the hearing aid, and found it important that the ENT-specialist or Audiological Centre evaluated their hearing aid. CONCLUSION: This study identified professional concerns about the direct pathway for hearing-impaired persons. Gaps exist in expectations amongst professions. Also gaps exist between users of the pathway, especially between age groups and regions. Professionals are united in the conditions that need to be fulfilled for a successful implementation of the direct pathway. Implementation on a regional level is recommended to best satisfy these conditions

Hearing in adults with Pompe disease

Hearing loss has been recognized as an important cause of morbidity in infants with Pompe disease, a metabolic disorder caused by deficiency of acid α-glucosidase. It is unknown whether hearing is also affected in adult Pompe patients. We have studied the prevalence, severity, and type of hearing loss in 58 adult patients using tympanometry and pure-tone audiometry. Compared to normative data (International Organisation for Standardisation standard 7029), 72% of patients had impaired hearing thresholds at one or more frequencies in at least one ear. All measured frequencies were equally affected. All patients had a sensorineural type of hearing loss, pointing to cochlear or retrocochlear pathology. Categorised according to the standards of the World Health Organisation 21% of patients had a clinically relevant hearing loss (16% slight, 3% moderate, 2% profound). Though this suggests that hearing loss occurs in a considerable number of patients with Pompe disease, this prevalence is similar to that in the general population. Therefore, we conclude that hearing loss is not a specific feature of Pompe disease in adults

Choosing between measures: comparison of EQ-5D, HUI2 and HUI3 in persons with hearing complaints

OBJECTIVES: To generate insight into the differences between utility measures EuroQol 5D (EQ-5D), Health Utilities Index Mark II (HUI2) and Mark III (HUI3) and their impact on the incremental cost-effectiveness ratio (ICER) for hearing aid fitting METHODS: Persons with hearing complaints completed EQ-5D, HUI2 and HUI3 at baseline and, when applicable, after hearing aid fitting. Practicality, construct validity, agreement, responsiveness and impact on the ICER were examined. RESULTS: All measures had high completion rates. HUI3 was capable of discriminating between clinically distinctive groups. Utility scores (n = 315) for EQ-5D UK and Dutch tariff (0.83; 0.86), HUI2 (0.77) and HUI3 (0.61) were significantly different, agreement was low to moderate. Change after hearing aid fitting (n = 70) for HUI2 (0.07) and HUI3 (0.12) was statistically significant, unlike the EQ-5D UK (0.01) and Dutch (0.00) tariff. ICERs varied from 647,209 euros/QALY for the EQ-5D Dutch tariff to 15,811 euros/QALY for HUI3. CONCLUSION: Utility scores, utility gain and ICERs heavily depend on the measure that is used to elicit them. This study indicates HUI3 as the instrument of first choice when measuring utility in a population with hearing complaints, but emphasizes the importance of a clear notion of what constitutes utility with regard to economic analyse

Across-Channel Timing Differences as a Potential Code for the Frequency of Pure Tones

When a pure tone or low-numbered harmonic is presented to a listener, the resulting travelling wave in the cochlea slows down at the portion of the basilar membrane (BM) tuned to the input frequency due to the filtering properties of the BM. This slowing is reflected in the phase of the response of neurons across the auditory nerve (AN) array. It has been suggested that the auditory system exploits these across-channel timing differences to encode the pitch of both pure tones and resolved harmonics in complex tones. Here, we report a quantitative analysis of previously published data on the response of guinea pig AN fibres, of a range of characteristic frequencies, to pure tones of different frequencies and levels. We conclude that although the use of across-channel timing cues provides an a priori attractive and plausible means of encoding pitch, many of the most obvious metrics for using that cue produce pitch estimates that are strongly influenced by the overall level and therefore are unlikely to provide a straightforward means for encoding the pitch of pure tones

Dual-energy X-ray absorptiometry versus quantitative ultrasonography in diagnosing osteoporosis in patients with refractory epilepsy and chronic antiepileptic drug use

Background: The aim of this study was to assess the feasibility of calcaneal quantitative ultrasonography (QUS) as a screening method for increased risk of osteoporosis in a unique population of people with chronic epilepsy, intellectual disability (ID), and chronic use of antiepileptic drugs. Methods: A total of 205 patients from a long-stay care facility for people with epilepsy underwent dual-energy X-ray absorptiometry (DXA) and QUS of the calcaneus. T-scores for both DXA and QUS were calculated and correlated. Results: A total of 195 patients (95.1%) were successfully measured with DXA and 204 (99.5%) with QUS. High correlations were found between DXA and QUS T-scores: r = 0.666 (QUS versus T-score total femur), r = 0.631 (QUS versus T-score femur neck) and r = 0.485 (QUS versus T-score lumbar spine). All correlations were statistically significant (p = 0.01). Conclusion: QUS showed a strong correlation with DXA and proved to be a feasible measuring method in a population with ID and epilepsy. Including osteopenia in the screening process increases the sensitivity of QUS to identify those patients at risk for the development of bone diseases

Role of cold resistance and burial for winter survival and spring initiation of an Ulva spp. (Chlorophyta) bloom in a eutrophic lagoon (Veerse Meer lagoon, The Netherlands)

In the eutrophic Veerse Meer lagoon (The Netherlands) large amounts of free-floating thalli from Ulva spp. are present from May to October. In winter however, no algae seem to occur in the lagoon. Sexual reproduction appears to be negligible, as spore formation and germling growth are observed only sporadically. Results of a field survey showed that in winter, viable Ulva biomass is present buried in the sediment of the shallow parts of the lagoon. Freezing experiments demonstrated that the algae are able to survive temperatures of -5 degrees C for 2 weeks when kept in darkness. In spring, the buried Ulva thalli are liberated out of the sediment to initiate a bloom. A field experiment indicates that bioturbation by the lugworm Arenicola marina does not stimulate the release of the thalli. Burial and winter survival can explain the rapid increase in Ulva biomass in spring and suggest that the initial spring biomass is one of the major factors determining the maximal biomass in summer. [KEYWORDS: Dimethylsulphoniopropionate dmsp content arenicola-marina; wadden sea; macroalgae; growth; lactuca; requirements; strategies; waters; form]

Expression of small heat shock proteins HspB2, HspB8, Hsp20, and cvHsp in different tissues of the perinatal developing pig

International audienc