Treatment for dysphagia (swallowing difficulties) in hereditary ataxia

BACKGROUND: Hereditary ataxias are a heterogeneous group of disorders resulting in progressive inco-ordination. Swallowing impairment, also known as dysphagia, is a common and potentially life threatening sequel of disease progression. The incidence and nature of dysphagia in these conditions is largely unknown. The loss of an effective and safe swallow can dramatically affect the health and well-being of an individual. Remediation of difficulties of eating and drinking is an important goal in the clinical care of people with hereditary ataxia. OBJECTIVES: To assess the effects of interventions for swallowing impairment (dysphagia) in people with hereditary ataxias. SEARCH METHODS: We searched the Cochrane Neuromuscular Disease Group Specialized Register, the Cochrane Central Register of Controlled Trials (CENTRAL), MEDLINE, EMBASE, CINAHL Plus, PsycINFO, and the Education Resources Information Center (ERIC) on 14 September 2015. We also searched Linguistics and Language Behavior Abstracts (LLBA), Dissertation Abstracts, and Trials Registries on 24 September 2015. SELECTION CRITERIA: We considered all randomised controlled trials (RCTs) and quasi-RCTs that compared treatments for hereditary ataxia with placebo or no treatment. We only included studies measuring dysphagia. DATA COLLECTION AND ANALYSIS: Three review authors (ES, KJ, MK) independently screened all titles and abstracts. In the event of any disagreement or uncertainty over the inclusion of a particular paper, the review authors planned to meet and reach consensus. MAIN RESULTS: We identified no RCTs from the 519 titles and abstracts screened. We excluded papers primarily for not including participants with a hereditary ataxia (that is, being focused on other neurological conditions), being theoretical reviews rather than intervention studies, or being neither randomised nor quasi-randomised trials.We identified five papers of various design that described treatment for dysphagia, or improvement to swallow as a by-product of treatment, in people with hereditary ataxia. None of these studies were RCTs or quasi-RCTs. AUTHORS' CONCLUSIONS: There is an absence of any significant evidence supporting the use of any dysphagia intervention in hereditary ataxia. The lack of evidence highlights the critical need for well-controlled treatment trials in the field

Dysphagia in Friedreich Ataxia

The objective of the study was to comprehensively characterise dysphagia in Friedreich ataxia (FRDA) and identify predictors of penetration/aspiration during swallowing. We also investigated the psychosocial impact of dysphagia on individuals with FRDA. Sixty participants with FRDA were screened for dysphagia using a swallowing quality of life questionnaire (Swal-QOL) and case history. Individuals reporting dysphagia underwent a standardised oromotor assessment (Frenchay Dysarthria Assessment, 2, FDA-2) and videofluoroscopic study of swallowing (VFSS). Data were correlated with disease parameters (age at symptom onset, age at assessment, disease duration, FXN intron 1 GAA repeat sizes, and Friedreich Ataxia Rating Scale (FARS) score). Predictors of airway penetration/aspiration were explored using logistic regression analysis. Ninety-eight percent (59/60) of participants reported dysphagia, of whom 35 (58.3%) underwent FDA-2 assessment, and 38 (63.3%) underwent VFSS. Laryngeal, respiratory, and tongue dysfunction was observed on the FDA-2. A Penetration-Aspiration Scale score above 3 (deemed significant airway compromise based on non-clinical groups) was observed on at least one consistency in 13/38 (34.2%) participants. All of those who aspirated (10/38, 26.3%) did so silently, with no overt signs of airway entry such as reflexive cough. Significant correlations were observed between dysphagic symptoms and disease duration and severity. No reliable predictors of penetration or aspiration were identified. Oropharyngeal dysphagia is commonly present in individuals with FRDA and worsens with disease duration and severity. Individuals with FRDA are at risk of aspiration at any stage of the disease and should be reviewed regularly. Instrumental analysis remains the only reliable method to detect aspiration in this population. Dysphagia significantly affects the quality of life of individuals with FRDA

Cognition, temperament, and cerebral blood flow velocity in toddlers and preschool children with sleep-disordered breathing or behavioral insomnia of childhood

Blunden, SL ORCiD: 0000-0002-5026-1992Cognitive decrements, problematic behaviors, and increased cerebral blood flow velocities (CBFVs) have been reported in children aged 3–7 years with sleep-disordered breathing (SDB). Whether similar impairments exist in younger children or those with behavioral insomnia of childhood (BIC) remains unclear. This study aimed to compare cognition and temperament in children aged 1–5 years with SDB or BIC to healthy control children, and to investigate whether cognitive or behavioral deficits associated with sleep problems are related to changes in CBFV. Method: Toddlers and preschool-aged children (12–67 months) who had been referred for the clinical evaluation of SDB (n = 20) or BIC (n = 13) and a comparative sample of non-snoring healthy sleepers (controls; n = 77) were recruited from the community. Children underwent cognitive assessment (Mullen’s Scale of Early Learning) and measurement of resting bilateral CBFV in the middle cerebral artery (MCA) using Transcranial Doppler. Parents completed temperament scales (Early Childhood or Childhood Behavior Questionnaire), a sleep problem questionnaire (Pediatric Sleep Problem Survey Instrument) and performed home-based pediatric sleep monitoring (Actigraphy and Sleep Diary). Results: SDB children demonstrated impaired receptive skills, more hyperactive and energetic temperaments, and higher bilateral CBFV than controls and childrenwith BIC. Logistic regression analyses indicated that impaired cognition, temperamental difficulties, and increased CBFV are independently associated with SDB. Conclusions: During early childhood, problematic temperaments, cognitive deficits, and altered cerebrovascular functioning are associated with SDB but not BIC. CBFV does not appear to mediate these daytime deficits and instead may be an independent outcome of SDB. The findings support the need for an early intervention in pediatric SDB

Cognition, temperament, and cerebral blood flow velocity in toddlers and preschool children with sleep-disordered breathing or behavioral insomnia of childhood

Cognitive decrements, problematic behaviors, and increased cerebral blood flow velocities (CBFVs) have been reported in children aged 3–7 years with sleep-disordered breathing (SDB). Whether similar impairments exist in younger children or those with behavioral insomnia of childhood (BIC) remains unclear. This study aimed to compare cognition and temperament in children aged 1–5 years with SDB or BIC to healthy control children, and to investigate whether cognitive or behavioral deficits associated with sleep problems are related to changes in CBFV. Method: Toddlers and preschool-aged children (12–67 months) who had been referred for the clinical evaluation of SDB (n = 20) or BIC (n = 13) and a comparative sample of non-snoring healthy sleepers (controls; n = 77) were recruited from the community. Children underwent cognitive assessment (Mullen’s Scale of Early Learning) and measurement of resting bilateral CBFV in the middle cerebral artery (MCA) using Transcranial Doppler. Parents completed temperament scales (Early Childhood or Childhood Behavior Questionnaire), a sleep problem questionnaire (Pediatric Sleep Problem Survey Instrument) and performed home-based pediatric sleep monitoring (Actigraphy and Sleep Diary). Results: SDB children demonstrated impaired receptive skills, more hyperactive and energetic temperaments, and higher bilateral CBFV than controls and childrenwith BIC. Logistic regression analyses indicated that impaired cognition, temperamental difficulties, and increased CBFV are independently associated with SDB. Conclusions: During early childhood, problematic temperaments, cognitive deficits, and altered cerebrovascular functioning are associated with SDB but not BIC. CBFV does not appear to mediate these daytime deficits and instead may be an independent outcome of SDB. The findings support the need for an early intervention in pediatric SDB