Life strategies of people with deafblindness due to Usher syndrome type 2a - a qualitative study.

Purpose: To explore life strategies in people with Usher syndrome type 2a. Background: There are no studies on life strategies in people with Usher syndrome. People with deafblindness are often described in terms of poor health and low quality of life, or as being vulnerable. From a clinical point of view, it is of importance to balance this picture, with an increased knowledge of life strategies. Methods: The study had a qualitative explorative design. Fourteen people aged 20-64 years (4 women, 10 men) with USH2a in Sweden participated in focus group interviews, which were transcribed and analysed by qualitative content analysis. Results: The content analysis resulted in seven categories; remaining active, using devices, using support, sharing knowledge, appreciating the present, maintaining a positive image and alleviating emotional pain. Two sub-themes: resolve or prevent challenges and comforting oneself was abstracted forming a theme "being at the helm". Conclusion: The findings show that people with USH2a have a variety of life strategies that can be interpreted as highlighting different aspects of psychological flexibility in a life adjustment process. The study demonstrates that people with USH2a manage in many ways, and metaphorically, by "taking the helm", they strive to actively navigate towards their own chosen values.

Into Darkness and Silence: What Caused Helen Keller's Deafblindness?

In 1882, at 19 months of age, Helen Keller developed a febrile illness that left her both deaf and blind. Historical biographies attribute the illness to rubella, scarlet fever, encephalitis, or meningitis. This analysis of her illness suggests she likely had bacterial meningitis, caused by Neisseria meningitidis or possibly Haemophilus influenzae.

Gerstmann-Sträussler-Scheinker disease with atypical presentation.

We describe a 37-year-old woman who presented with progressive deafness, visual loss and ataxia. She latterly developed neuropsychiatric problems, including cognitive impairment, paranoid delusions and episodes of altered consciousness. She was found to be heterozygous for the Q212P mutation in the prion protein gene. She died over a decade after initial presentation and a diagnosis of prion disease was confirmed at postmortem.

Dual sensory impairment in special schools in South-Eastern Nigeria.

In a cross-sectional study to determine the magnitude of dual sensory impairment (DSI-combined hearing and vision loss) in children in single-disability special education schools, children in schools for the blind and schools for the deaf in four states in South-East Nigeria were examined by an ophthalmologist and otorhinolaryngologist to determine the level of their disability and to identify other disabilities if any. Participants were all students with childhood blindness or childhood deafness. The magnitude and causes of DSI and the burden of undetected DSI were the main outcome measures. A total of 273 students were examined. About 7% of these students had DSI out of which over 60% (12/19) was previously undetected. There was more DSI in the blind schools than in the deaf schools (p=0.003). There is a large burden of undetected DSI in children in special schools in Nigeria. There is a need to create awareness of this problem and advocate appropriate screening, rehabilitative and educational strategies for children who have it.

A report on 15 years of clinical negligence claims in rhinology.

BACKGROUND: This study was designed to determine the characteristics of medical negligence claims in rhinology. In 2010-2011 the National Health Service (NHS) litigation bill surpassed 1 billion Great British Pounds (GBP; 1.52 billion U.S. dollars [US$]). Systematic analysis of malpractice complaints allows for the identification of errors and can thereby improve patient safety and reduce the burden of litigation claims on health services. METHODS: Claims relating to ear, nose, and throat between 1995 and 2010 were obtained from the NHS Litigation Authority and were analyzed. RESULTS: The series contains 65 closed claims that resulted in payment totaling 3.1 million GBP (US$4.7 million). Fifty claims were related to surgical complications. Functional endoscopic sinus surgery and septoplasty were the procedures most commonly associated with successful claims. There were 11 cases of orbital injury including 6 cases of visual loss and 5 cases of diplopia. The most common cause of a claim was failure to recognize the complication or manage it appropriately. Lack of informed consent was claimed in eight cases. Other claims arose because of errors in outpatient procedures (two), diagnosis (six), delayed surgery (one), and errors in medical management (three). CONCLUSION: This is the first study to report the outcomes of negligence claims in rhinology in the United Kingdom. Claims in rhinology are associated with a high success rate. Steps that can be taken to reduce litigation include careful patient workup and ensuring adequate informed consent. Where there is a suspicion of orbital damage early recognition and intervention is needed to reduce long-term injury to the patient.

The syndrome of deafness-dystonia: clinical and genetic heterogeneity.

The syndrome of deafness-dystonia is rare and refers to the association of hearing impairment and dystonia when these are dominant features of a disease. Known genetic causes include Mohr-Tranebjaerg syndrome, Woodhouse-Sakati syndrome, and mitochondrial disorders, but the cause frequently remains unidentified. The aim of the current study was to better characterize etiological and clinical aspects of deafness-dystonia syndrome. We evaluated 20 patients with deafness-dystonia syndrome who were seen during the period between 1994 and 2011. The cause was identified in only 7 patients and included methylmalonic aciduria, meningoencephalitis, perinatal hypoxic-ischemic injury, large genomic deletion on chromosome 7q21, translocase of inner mitochondrial membrane 8 homolog A (TIMM8A) mutation (Mohr-Tranebjaerg syndrome), and chromosome 2 open reading frame 37 (C2orf37) mutation (Woodhouse-Sakati syndrome). The age of onset and clinical characteristics in these patients varied, depending on the etiology. In 13 patients, the cause remained unexplained despite extensive work-up. In the group of patients who had unknown etiology, a family history for deafness and/or dystonia was present the majority of patients, suggesting a strong genetic component. Sensory-neural deafness always preceded dystonia. Two clinical patterns of deafness-dystonia syndrome were observed: patients who had an onset in childhood had generalized dystonia (10 of 13 patients) with frequent bulbar involvement, whereas patients who had a dystonia onset in adulthood had segmental dystonia (3 of 13 patients) with the invariable presence of laryngeal dystonia. Deafness-dystonia syndrome is etiologically and clinically heterogeneous, and most patients have an unknown cause. The different age at onset and variable family history suggest a heterogeneous genetic background, possibly including currently unidentified genetic conditions.

Long-term neurodevelopmental outcomes after intrauterine and neonatal insults: a systematic review.

BACKGROUND: Neonatal interventions are largely focused on reduction of mortality and progression towards Millennium Development Goal 4 (child survival). However, little is known about the global burden of long-term consequences of intrauterine and neonatal insults. We did a systematic review to estimate risks of long-term neurocognitive and other sequelae after intrauterine and neonatal insults, especially in low-income and middle-income countries. METHODS: We searched Medline, Cumulative Index to Nursing and Allied Health Literature, the Cochrane Library, and Embase for studies published between Jan 1, 1966, and June 30, 2011, that reported neurodevelopmental sequelae after preterm or neonatal insult. For unpublished studies and grey literature, we searched Dissertation Abstracts International and the WHO library. We reviewed publications that had data for long-term outcome after defined neonatal insults. We summarised the results with medians and IQRs, and calculated the risk of at least one sequela after insult. FINDINGS: Of 28,212 studies identified by our search, 153 studies were suitable for inclusion, documenting 22,161 survivors of intrauterine or neonatal insults. The overall median risk of at least one sequela in any domain was 39·4% (IQR 20·0-54·8), with a risk of at least one severe impairment in any insult domain of 18·5% (7·7-33·3), of at least one moderate impairment of 5·0% (0·0-13·3%), and of at least one mild impairment of 10·0% (1·4-17·9%). The pooled risk estimate of at least one sequela (weighted mean) associated with one or more of the insults studied (excluding HIV) was 37·0% (95% CI 27·0-48·0%) and this risk was not significantly affected by region, duration of the follow-up, study design, or period of data collection. The most common sequelae were learning difficulties, cognition, or developmental delay (n=4032; 59%); cerebral palsy (n=1472; 21%); hearing impairment (n=1340; 20%); and visual impairment (n=1228; 18%). Only 40 (26%) studies included data for multidomain impairments. These studies included 2815 individuals, of whom 1048 (37%) had impairments, with 334 (32%) having multiple impairments. INTERPRETATION: Intrauterine and neonatal insults have a high risk of causing substantial long-term neurological morbidity. Comparable cohort studies in resource-poor regions should be done to properly assess the burden of these conditions, and long-term outcomes, such as chronic disease, and to inform policy and programme investments. FUNDING: The Bill & Melinda Gates Foundation, Saving Newborn Lives, and the Wellcome Trust.

Dual sensory impairment (DSI) in traumatic brain injury (TBI)--An emerging interdisciplinary challenge.

The present review characterizes dual sensory impairment (DSI) as co-existing auditory and visual deficits in TBI that can be peripherally or centrally based. Current research investigating DSI in the military population, along with applicable research which focuses on unimodal deficits, is considered. Due to the heterogenous nature of TBI lesions, an important challenge that the clinician faces is ruling out the influence of multiple sensory deficits and/or the influence of cognitive processes on diagnosis and rehabilitation of the patient. Treatment options for DSI involve remediation of the sensory deficits via existing sensory aids or training exercises.

Prevalence and aetiology of congenitally deafblind people in Denmark.

A study of prevalence and aetiology was performed on 63 children and 127 adults in Denmark with congenital deafblindness. Using a Scandinavian definition of deafblindness, the prevalence of congenital deafblindness was found to be 1:29 000. Thirty-five different aetiological causes of deafblindness were found. Causes of congenital deafblindness were different among adults compared to causes among children. Rubella syndrome (28%, n = 36) and Down syndrome (8%. n = 10) were the largest groups among people above 18 years of age. Among children CHARGE syndrome (16%, n = 13) was the largest group. Ethnicity was also evaluated. Among children 72% were Danish, but among the adults 98% were Danish. Implications of difference in aetiology and ethnicity are discussed in relation to the Scandinavian traditions of clinical practice and identification of congenital deafblindness.