Disorders of Upper Limb Movements in Ataxia-Telangiectasia
Cross-Sectional Studies; Age Factors; Male; Severity of Illness Index; Young Adult; Child; Humans; Adult; Adolescent; Female; Child Preschool; Periodicity; Ataxia Telangiectasia/pp [Physiopathology]; Motor Activity; Movement; Upper Extremity; Accelerometry; Biomechanical Phenomena; Motor Activity/ph [Physiology]; Movement Disorders/pp [Physiopathology]; Movement/ph [Physiology]; Posture/ph [Physiology]; Tremor/pp [Physiopathology]; Upper Extremity/pp [Physiopathology]; tone and motor problems; ataxia telangiectasia; trajectory; characteristics; abnormal involuntary movements; kinetic tremor; postural tremor; resting tremor
Ataxia-telangiectasia is known for cerebellar degeneration, but clinical descriptions of abnormal tone, posture, and movements suggest involvement of the network between cerebellum and basal ganglia. We quantitatively assessed the nature of upper-limb movement disorders in ataxia-telangiectasia. We used a three-axis accelerometer to assess the natural history and severity of abnormal upper-limb movements in 80 ataxia-telangiectasia and 19 healthy subjects. Recordings were made during goal-directed movements of upper limb (kinetic task), while arms were outstretched (postural task), and at rest. Almost all ataxia-telangiectasia subjects (79/80) had abnormal involuntary movements, such as rhythmic oscillations (tremor), slow drifts (dystonia or athetosis), and isolated rapid movements (dystonic jerks or myoclonus). All patients with involuntary movements had both kinetic and postural tremor, while 48 (61%) also had resting tremor. The tremor was present in transient episodes lasting several seconds during two-minute recording sessions of all three conditions. Percent time during which episodic tremor was present was greater for postural and kinetic tasks compared to rest. Resting tremor had higher frequency but smaller amplitude than postural and kinetic tremor. Rapid non-rhythmic movements were minimal during rest, but were triggered during sustained arm postures and goal directed arm movements suggesting they are best considered a form of dystonic jerks or action myoclonus. Advancing age did not correlate with the severity of involuntary limb movements. Abnormal upper-limb movements in ataxia-telangiectasia feature classic cerebellar impairment, but also suggest involvement of the network between the cerebellum and basal ganglia.
Shaikh A G; Zee D S; Mandir A S; Lederman H M; Crawford T O
PLoS ONE
2013
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.1371/journal.pone.0067042" target="_blank" rel="noreferrer noopener">10.1371/journal.pone.0067042</a>
Assessment of impaired coordination between respiration and deglutition in children and young adults with ataxia telangiectasia
Pediatrics; dysphagia; patterns; Neurosciences & Neurology; management; cerebral-palsy; disease; dynamics; neurodegeneration; pharyngeal; feeding difficulties; ataxia telangectasia; trajectory; characteristics; expiratory patterns of peri-deglutitive airflow
AimThis cross-sectional investigation aimed to assess the value of non-invasive measures of temporal respiratory-swallow coupling in individuals with ataxic swallowing. MethodTwenty participants (11 males, 9 females; range 9-21y) with ataxia telangiectasia were presented with water and pudding boluses. Their 193 swallows were compared with 2200 swallows from 82 age-matched healthy controls. The two components of airway protection during swallowing that were analyzed were: direction of peri-deglutitive airflow and duration of deglutitive inhibition of respiratory airflow (DIORA). ResultsSafe expiratory patterns of peri-deglutitive airflow occurred significantly less often in participants with ataxia telangiectasia than in age-matched control participants (younger p<0.015 and older p<0.001). The frequency of an expiratory pattern of peri-deglutitive airflow increased with age in participants in the comparison group (p=0.006), but not in those with ataxia telangiectasia (p=0.234). With age, mean duration of DIORA decreased in controls (p<0.001) but was unchanged in participants with ataxia telangiectasia (p=0.164). InterpretationNon-invasive quantitative measures of respiratory-swallow coupling capture temporal relationships that plausibly contribute to airway compromise from dysphagia. Changes in respiratory-swallow coupling observed with advancing age in control participants were not seen in participants with ataxia telangiectasia. Measures of perturbations may herald swallowing problems prior to development of pulmonary and nutritional sequelae.
Lefton-Greif M A; Perlman A L; He X M; Lederman H M; Crawford T O
Developmental Medicine and Child Neurology
2016
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.1111/dmcn.13156" target="_blank" rel="noreferrer noopener">10.1111/dmcn.13156</a>
Oropharyngeal dysphagia and aspiration in patients with ataxia-telangiectasia
children; Pediatrics; feeding difficulties; ataxia telangectasia; trajectory; characteristics; dysphagia aspiration; low weight
Objectives: To determine whether patients with ataxia-telangiectasia exhibit oropharyngeal dysphagia with concomitant aspiration and to examine the relationships among swallowing function, age, and nutritional status. Study design: Seventy patients (mean age, 10.7 years; range,: 1.8 to 30 years) had feeding/swallowing and nutritional evaluations. Fifty-one patients, in whom there were concerns about swallowing safety, were examined with a standardized videofluoroscopic swallow study. Results: Fourteen of the 51 patients (27%) with histories suggestive of dysphagia demonstrated aspiration. Of these, silent aspiration (aspiration without a cough) occurred in 10 (71%) patients. Aspirators were significantly older than non-aspirators (mean age, 16.9 vs 10.8 years; P = .002). Advancing age was the strongest factor associated with aspiration during continuous drinking (P = .01). In patients with ataxia-telangiectasia, weight and weight/height were abnormally low at all ages and most compromised in older patients. Patients who aspirated had significantly lower mean weighs (P < .002) and weight/height z scores (P < .001) than did patients who did not aspirate. Conclusions: Oropharyngeal dysphagia is common and appears to be progressive in patients with ataxia-telangiectasia. Older patients also have a higher incidence of poorer nutritional status. The relationship between dysphagia and nutritional status deserves further investigation.
Lefton-Greif M A; Crawford T O; Winkelstein J A; Loughlin G M; Koerner C B; Zaburak M; Lederman H M
Journal of Pediatrics
2000
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.1016/s0022-3476(00)70106-5" target="_blank" rel="noreferrer noopener">10.1016/s0022-3476(00)70106-5</a>