The Care and Management of Children and Young People with Ataxia Telangiectasia Provided by Nurses and Allied Health Professionals: a Scoping Review.

Ataxia telangiectasia (A-T) is a rare, multisystem progressive condition that typically presents in early childhood. In the absence of cure, people with A-T require coordinated multidisciplinary care to manage their complex array of needs and to minimize the disease burden. Although symptom management has proven benefits for this population, including improved quality of life and reduced complications, there is a need for guidance specific to the nursing and allied healthcare teams who provide care within the community. A scoping review, adopting the Joanna Briggs Institute methodology, was undertaken. It aimed to identify and map the available expertise from nursing and allied healthcare and management of children and young people with A-T ≤ 18 years of age. A rigorous search strategy was employed which generated a total of 21,118 sources of evidence, of which 50 were selected for review following screening by experts. A range of interventions were identified that reported a positive impact on A-T-related impairments, together with quality of life, indicating that outcomes can be improved for this population. Most notable interventions specific to A-T include therapeutic exercise, inspiratory muscle training, and early nutritional assessment and intervention. Further research will be required to determine the full potential of the identified interventions, including translatability to the A-T setting for evidence related to other forms of ataxia. Large gaps exist in the nursing and allied health evidence-base, highlighting a need for robust research that includes children and young people with A-T and their families to better inform and optimize management strategies.

Exercise and Physical Therapy Interventions for Children with Ataxia: A Systematic Review.

The effectiveness of exercise and physical therapy for children with ataxia is poorly understood. The aim of this systematic review was to critically evaluate the range, scope and methodological quality of studies investigating the effectiveness of exercise and physical therapy interventions for children with ataxia. The following databases were searched: AMED, CENTRAL, CDSR, CINAHL, ClinicalTrials.gov, EMBASE, Ovid MEDLINE, PEDro and Web of Science. No limits were placed on language, type of study or year of publication. Two reviewers independently determined whether the studies met the inclusion criteria, extracted all relevant outcomes, and conducted methodological quality assessments. A total of 1988 studies were identified, and 124 full texts were screened. Twenty studies were included in the review. A total of 40 children (aged 5-18 years) with ataxia as a primary impairment participated in the included studies. Data were able to be extracted from eleven studies with a total of 21 children (aged 5-18 years), with a range of cerebellar pathology. The studies reported promising results but were of low methodological quality (no RCTs), used small sample sizes and were heterogeneous in terms of interventions, participants and outcomes. No firm conclusions can be made about the effectiveness of exercise and physical therapy for children with ataxia. There is a need for further high-quality child-centred research.

Sensorimotor processing for balance in spinocerebellar ataxia type 6.

BACKGROUND: We investigated whether balance impairments caused by cerebellar disease are associated with specific sensorimotor processing deficits that generalize across all sensory modalities. Experiments focused on the putative cerebellar functions of scaling and coordinate transformation of balance responses evoked by stimulation of single sensory channels. METHODS: Vestibular, visual, and proprioceptive sensory channels were stimulated in isolation using galvanic vestibular stimulation, moving visual scenery, and muscle vibration, respectively, in 16 subjects with spinocerebellar ataxia type 6 (SCA6) and 16 matched healthy controls. Two polarities of each stimulus type evoked postural responses of similar form in the forward and backward directions. Disease severity was assessed using the Scale for Assessment and Rating of Ataxia. RESULTS: Impaired balance of SCA6 subjects during unperturbed stance was reflected in faster than normal body sway (P = 0.009), which correlated with disease severity (r = 0.705, P < 0.001). Sensory perturbations revealed a sensorimotor processing abnormality that was specific to response scaling for the visual channel. This manifested as visually evoked postural responses that were approximately three times larger than normal (backward, P < 0.001; forward P = 0.005) and correlated with disease severity (r = 0.543, P = 0.03). Response direction and habituation properties were no different from controls for all three sensory modalities. CONCLUSION: Cerebellar degeneration disturbs the scaling of postural responses evoked by visual motion, possibly through disinhibition of extracerebellar visuomotor centers. The excessively high gain of the visuomotor channel without compensatory decreases in gains of other sensorimotor channels provides a potential mechanism for instability of the balance control system in cerebellar disease.

Training balance with opto-kinetic stimuli in the home: a randomized controlled feasibility study in people with pure cerebellar disease.

OBJECTIVE: To investigate the feasibility of a randomized controlled trial of a home-based balance intervention for people with cerebellar ataxia. DESIGN: A randomized controlled trial design. SETTING: Intervention and assessment took place in the home environment. PARTICIPANTS: A total of 12 people with spinocerebellar ataxia type 6 were randomized into a therapy or control group. Both groups received identical assessments at baseline, four and eight weeks. INTERVENTIONS: Therapy group participants undertook balance exercises in front of optokinetic stimuli during weeks 4-8, while control group participants received no intervention. MAIN MEASURES: Test-retest reliability was analysed from outcome measures collected twice at baseline and four weeks later. Feasibility issues were evaluated using daily diaries and end trial exit interviews. RESULTS: The home-based training intervention with opto-kinetic stimuli was feasible for people with pure ataxia, with one drop-out. Test-retest reliability is strong (intraclass correlation coefficient >0.7) for selected outcome measures evaluating balance at impairment and activity levels. Some measures reveal trends towards improvement for those in the therapy group. Sample size estimations indicate that Bal-SARA scores could detect a clinically significant change of 0.8 points in this functional balance score if 80 people per group were analysed in future trials. CONCLUSIONS: Home-based targeted training of functional balance for people with pure cerebellar ataxia is feasible and the outcome measures employed are reliable.

Stance instability in spinocerebellar ataxia type 6.

Balance impairment is a principal symptom of cerebellar disease, but is poorly understood partly because subjects with heterogenous cerebellar and extracerebellar lesions have often been studied. Spinocerebellar ataxia type 6 (SCA6) provides an opportunity to understand balance dysfunction associated with a relatively homogenous cerebellar lesion. This study investigated stance instability in SCA6 and how it is affected by varying stance width. Body sway, as well as its directional preponderance and distribution across joints, was measured three-dimensionally in 17 SCA6 and 17 matched healthy control subjects. Subjects stood for 40 seconds on a stable surface with their eyes open and feet positioned at various stance widths (32, 16, 8, 4, and 0 cm). SCA6 subjects swayed faster than controls at every stance width. Decreasing the stance width produced a disproportionate increase in sway speed in SCA6 subjects, compared to controls. Directional preponderance of sway was dependent on stance width, but did not differ between groups. Joint instability was increased by reducing stance width in both groups, but there was greater instability of the ankle joint in the roll plane in the SCA6 group. Measures of global instability correlated strongly with disease severity measured with the Scale for the Assessment and Rating of Ataxia (r = 0.79). The sway characteristics suggest a disruption of sensorimotor processing for balance control in SCA6. The correlation with disease severity implies that balance impairment is a feature of progression of SCA6 clinical syndrome. With stance width standardized, the instability measures employed could provide sensitive, continuous outcome measures of longitudinal or therapeutic change.

An observational study to assess validity and reliability of smartphone sensor-based gait and balance assessments in multiple sclerosis: Floodlight GaitLab protocol.

Background: Gait and balance impairments are often present in people with multiple sclerosis (PwMS) and have a significant impact on quality of life and independence. Gold-standard quantitative tools for assessing gait and balance such as motion capture systems and force plates usually require complex technical setups. Wearable sensors, including those integrated into smartphones, offer a more frequent, convenient, and minimally burdensome assessment of functional disability in a home environment. We developed a novel smartphone sensor-based application (Floodlight) that is being used in multiple research and clinical contexts, but a complete validation of this technology is still lacking. Methods: This protocol describes an observational study designed to evaluate the analytical and clinical validity of Floodlight gait and balance tests. Approximately 100 PwMS and 35 healthy controls will perform multiple gait and balance tasks in both laboratory-based and real-world environments in order to explore the following properties: (a) concurrent validity of the Floodlight gait and balance tests against gold-standard assessments; (b) reliability of Floodlight digital measures derived under different controlled gait and balance conditions, and different on-body sensor locations; (c) ecological validity of the tests; and (d) construct validity compared with clinician- and patient-reported assessments. Conclusions: The Floodlight GaitLab study (ISRCTN15993728) represents a critical step in the technical validation of Floodlight technology to measure gait and balance in PwMS, and will also allow the development of new test designs and algorithms.

Clinician's perspectives in using head impulse-nystagmus-test of skew (HINTS) for acute vestibular syndrome: UK experience.

BACKGROUND: Acute vestibular syndrome (AVS) features continuous dizziness and may result from a benign inner ear disorder or stroke. The head impulse-nystagmus-test of skew (HINTS) bedside assessment is more sensitive than brain MRI in identifying stroke as the cause of AVS within the first 24 hours. Clinicians' perspectives of the test in UK secondary care remains unknown. Here, we explore front-line clinicians' perspectives of use of the HINTS for the diagnosis of AVS. METHODS: Clinicians from two large UK hospitals who assess AVS patients completed a short online survey, newly designed with closed and open questions. RESULTS: Almost half of 73 total responders reported limited (n=33), or no experience (n=19), reflected in low rates of use of HINTS (n=31). While recognising the potential utility of HINTS, many reported concerns about subjectivity, need for specialist skills and poor patient compliance. No clinicians reported high levels of confidence in performing HINTS, with 98% identifying training needs. A lack of formalised training was associated with onward specialist referrals and neuroimaging (p=0.044). CONCLUSIONS: Although the low sample size in this study limits the generalisability of findings to wider sites, our preliminary data identified barriers to the application of the HINTS in AVS patients and training needs to improve rapid, cost-effective and accurate clinical diagnosis of stroke presenting with vertigo.

Associations among weight-based teasing distress, impulsive emotion regulation, and loss of control eating in racially and ethnically diverse young men.

According to affect regulation models, distress associated with weight-based teasing may be related to loss of control (LOC) eating. Maladaptive coping strategies may further exacerbate this association, but such hypotheses have not been evaluated in men. The purpose of the current study was to examine the association between distress from weight-based teasing and LOC eating in racially and ethnically diverse young men. The degree to which men engage in impulsive behavior when distressed was investigated as a moderating variable. Exploratory analyses examined the proposed associations within racial/ethnic identity groups. The current study included 1011 young men (18-30 years, Mage = 23.9 ± 3.6 y, 28.3% non-Hispanic White; 23.4% African American; 24.3% Hispanic/Latino; 23.8% Asian/Asian American). Participants completed an online survey with measures of weight-based teasing, LOC eating frequency, engagement in impulsive behavior when distressed, and demographics. After adjusting for age, race/ethnicity, and body mass index, there was a positive association between distress from weight-based teasing and LOC eating frequency (p < .001). In the full sample, the tendency to engage in impulsive behavior when distressed exacerbated this link (p < .01). Exploratory analyses revealed the moderating effect of impulsive coping on distress from teasing was significant in non-Hispanic White men, but was not significant for all others. These findings suggest that men are not immune to the negative correlates of weight-based teasing. LOC eating may function as a maladaptive coping mechanism, or may be an artifact of the disordered eating symptoms that can emerge during extreme efforts to obtain a thinner physique.

Falls in spinocerebellar ataxias: Results of the EuroSCA Fall Study.

To investigate the frequency, details, and consequences of falls in patients with autosomal dominant spinocerebellar ataxias (SCAs) and to derive specific disease-related risk factors that are associated with an increased fall frequency. Two hundred twenty-eight patients with SCA1, SCA2, SCA3, or SCA6, recruited from the EuroSCA natural history study, completed a fall questionnaire that assessed the frequency, consequences, and several details of falls in the previous 12 months. Relevant disease characteristics were retrieved from the EuroSCA registry. The database of the natural history study provided the ataxia severity scores as well as the number and nature of non-ataxia symptoms. Patients (73.6%) reported at least one fall in the preceding 12 months. There was a high rate of fall-related injuries (74%). Factors that were associated with a higher fall frequency included: disease duration, severity of ataxia, the presence of pyramidal symptoms, the total number of non-ataxia symptoms, and the genotype SCA3. Factors associated with a lower fall frequency were: the presence of extrapyramidal symptoms (more specifically dystonia of the lower limbs) and the genotype SCA2. The total number of non-ataxia symptoms and longer disease duration were independently associated with a higher fall frequency in a logistic regression analysis, while the presence of extrapyramidal symptoms was independently associated with a lower fall frequency. Our findings indicate that, in addition to more obvious factors that are associated with frequent falls, such as disease duration and ataxia severity, non-ataxia manifestations in SCA play a major role in the fall etiology of these patients.

E-Survey of Current International Physiotherapy Practice for Children with Ataxia Following Surgical Resection of Posterior Fossa Tumour.

OBJECTIVE: To determine current international practice regarding physiotherapy input for children with ataxia following surgery for posterior fossa tumour. Design: An e-survey covering the following domains: participant demographics, treatment/ intervention, virtual training, intensity/timing of treatment, and aims and outcomes of physiotherapy management. PARTICIPANTS: Physiotherapists involved in the management of children with ataxia following surgical resection of posterior fossa tumour. Participants were contacted via 6 key groups; Paediatric Oncology Physiotherapy Network (POPs), Association of Paediatric Chartered Physiotherapists (APCP), European Paediatric Neurology Society (EPNS), International Society of Paediatric Oncology (SIOP)-Europe Brain Tumour Group, Posterior Fossa Society (PFS), and Pediatric Oncology Special Interest Group (SIG) (American Physical Therapy Association). RESULTS: A total of 96 physiotherapists participated: UK (n =53), rest of Europe (n = 23), USA/ Canada (n = 10), and Australia/NZ (n = 10). The most common physiotherapy interventions used were balance exercises, gait re-education and proximal control activities. The most frequently used adjuncts to treatment were mobility aids and orthotics. Challenges reported regarding physiotherapy treatment were: reduced availability of physiotherapy input following discharge from the acute setting, lack of evidence, impact of adjuvant oncology treatment, and psychosocial impact. CONCLUSION: This e-survey provides an initial scoping review of international physiotherapy practice in this area. It establishes a foundation for future research on improving rehabilitation of ataxia in this population.

Incidence and prognostic factors of ataxia in children with posterior fossa tumors.

BACKGROUND: There is minimal literature specific to motor outcomes in children with posterior fossa tumors (PFTs) despite ataxia being a significant problem in this group. This study aims to report children's physical outcomes following management of PFT and determine which factors affect severity of ataxia and functional limitations. METHODS: Forty-two children aged between 5 and 17 and between 1 and 4 years following surgery for PFT were assessed using the Scale for the Assessment and Rating of Ataxia (SARA), the Brief Ataxia Rating Scale (BARS), and the mobility Pediatric Evaluation of Disability Inventory (PEDI) subscale to determine prevalence and severity of ataxia and a measure of physical function. Analysis was undertaken comparing impact of tumor location, tumor histology, adjuvant treatment, age at diagnosis, presence of preoperative ataxia, and presence of cerebellar mutism syndrome (CMS) on ataxia and physical function scores. RESULTS: Seventy-one percent of children demonstrated a SARA and BARS score greater than 2. A total of 48% of children had a PEDI-m score greater than 90. There was no correlation between age at diagnosis or preoperative ataxia and assessment scores. There was a significant difference in SARA/BARS and PEDI-mobility scores depending on tumor histology, tumor location, and presence of CMS. CONCLUSIONS: A high proportion of children (>1 year) following surgery for PFT continue to present with ataxia. Higher ataxia and lower physical function scores were demonstrated in children with medulloblastoma and midline tumors and those diagnosed with CMS. The high prevalence of ataxia demonstrates the need for further research regarding rehabilitation management in this population.

Standardized Assessment of Hereditary Ataxia Patients in Clinical Studies.

BACKGROUND: Hereditary ataxias are a heterogeneous group of degenerative diseases of the cerebellum, brainstem, and spinal cord. They may present with isolated ataxia or with additional symptoms going beyond cerebellar deficits. There are an increasing number of clinical studies with the goal to define the natural history of these disorders, develop biomarkers, and investigate therapeutic interventions. Especially, early and preclinical disease stages are currently of particular interest. METHODS AND RESULTS: Evidence-based, we review standards for sampling and storage of biomaterials, clinical and neuropsychological assessment, as well as neurophysiology and neuroimaging and recommendations for standardized assessment of ataxia patients in multicenter studies. CONCLUSIONS: DNA, RNA, serum, and, if possible, cerebrospinal fluid samples should be processed following established standards. Clinical assessment in ataxia studies must include use of a validated clinical ataxia scale. There are several validated clinical ataxia scales available. There are no instruments that were specifically designed for assessing neuropsychological and psychiatric symptoms in ataxia disorders. We provide a list of tests that may prove valuable. Quantitative performance tests have the potential to supplement clinical scales. They provide additional objective and quantitative information. Posturography and quantitative movement analysis-despite valid approaches-require standardization before implemented in multicenter studies. Standardization of neurophysiological tools, as required for multicenter interventional trials, is still lacking. Future multicenter neuroimaging studies in ataxias should implement quality assurance measures as defined by the ADNI or other consortia. MRI protocols should allow morphometric analyses.