Nicotinamide Riboside Improves Ataxia Scores and Immunoglobulin Levels in Ataxia Telangiectasia.

BACKGROUND: Treatment of animal models with ataxia telangiectasia (A-T) with nicotinamide riboside (NR) improved their neurological outcome and survival. OBJECTIVE: The aim of this study is to investigate the effects of NR in patients with A-T. METHODS: In this open-label, proof-of-concept study, 24 patients with A-T were treated with NR during four consecutive months. The effects of NR on ataxia, dysarthria, quality of life, and laboratory parameters were analyzed. RESULTS: During treatment, ataxia scores improved; mean total Scale for the Assessment and Rating of Ataxia and International Cooperative Ataxia Rating Scale scores decreased to 2.4 and 10.1 points, respectively. After NR withdrawal, ataxia scores worsened. In immunodeficient patients, the mean serum IgG concentration increased substantially until the end of the study period with 0.52 g/L. Untargeted metabolomics analysis revealed increased plasma levels of NR metabolites and purine nucleosides during treatment. Adverse effects did not occur. CONCLUSIONS: Treatment with NR is tolerated well and associated with improvement in ataxia and serum immunoglobulin concentrations in patients with A-T. © 2021 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

Dysarthria in children and adults with ataxia telangiectasia.

AIM: To investigate the characteristics and severity of dysarthria in children and adults with ataxia telangiectasia. METHOD: All children and adults with ataxia telangiectasia who visited our multidisciplinary outpatient clinic for ataxia telangiectasia were asked to participate in this study, which took place in March 2019. To evaluate dysarthria, we used the Radboud Dysarthria Assessment in adults (older than 18y) and the paediatric Radboud Dysarthria Assessment in children (5-18y), including the observational tasks 'conversation' and 'reading', and the speech-related maximum performance tasks 'repetition rate', 'phonation time', 'fundamental frequency range', and 'phonation volume'. Speech intelligibility was measured using the Intelligibility in Context Scale. RESULTS: Twenty-two individuals (15 children [5-17y], seven adults [19-47y]; 14 males and eight females; mean age 19y, SD 15y 2mo) participated. Dysarthria was present in all participants and characterized by ataxic components in adults and similar uncontrolled movements in children. In most participants, speech was mildly to mildly/severely affected. Almost all participants had an abnormal score for at least one maximum performance task. INTERPRETATION: Dysarthria in ataxia telangiectasia is characterized by uncontrolled, ataxic, and involuntary movements, resulting in monotonous, unstable, slow, hypernasal, and chanted speech. WHAT THIS PAPER ADDS: Dysarthria in ataxia telangiectasia is characterized by uncontrolled, ataxic, and involuntary movements. Dysarthria in ataxia telangiectasia results in monotonous, unstable, slow, hypernasal, and chanted speech. Dysarthria in ataxia telangiectasia can be assessed using the Radboud Dysarthria Assessment and the paediatric Radboud Dysarthria Assessment.

Daily Functioning and Quality of Life in Patients with Sjögren-Larsson Syndrome.

AIM: Sjögren-Larsson syndrome (SLS) is an autosomal recessively inherited neurometabolic disease caused by an enzyme defect in lipid metabolism. Patients suffer from intellectual disability, bilateral spastic paresis, ichthyosis, visual impairment, and photophobia. Knowledge about the meaning of having SLS in daily life is lacking. METHODS: Sixteen parents or caregivers of patients with SLS were asked to fill out online questionnaires about daily functioning, quality of life, feeding and swallowing problems, skin treatment, female hormonal status, and greatest problems. RESULTS: Questionnaires were filled out by parents or caregivers of six children and 10 adult patients, age range 11 to 58 years. The median quality of life score was 73 (range: 26-100). Most often reported problems were itchy skin, reduced mobility, and dependency. Feeding and swallowing problems were reported in 75% of the patients. Mood problems were rarely mentioned. DISCUSSION: Despite the large disruptions of daily functioning, patients with SLS are according to their parents generally content with their quality of life and participation. There was a broad range in reported problems. We found it very useful to systematically ask parents about their children's feelings and needs, to better understand the meaning of living with a complex disorder like SLS.

Development of oral motor behavior related to the skill assisted spoon feeding.

Milestones in the typical development of eating skills are considered to be nippling (breast or bottle), eating from a spoon, drinking from a cup, biting and chewing. The purpose of this research was to study the development and consolidation of oral motor behavior related to the skill assisted spoon feeding in young infants. The present study longitudinally investigated the development of this skill in 39 healthy children from the start of spoon feeding until the skill was acquired. The Observation List Spoon Feeding with 7 observation items for oral motor behavior and 6 items for abnormal behavior was used. Results showed that infants between 4 and 8 months of age needed 5.7 weeks (SD 2.1), with a range of 8 weeks (from 2 to 10 weeks) to acquire this skill. No significant correlation (p=.109) between age at start spoon feeding and weeks needed to develop the skill was found. During this period oral motor behavior consolidated and abnormal behavior diminished. With this study it is shown that the period in weeks needed to acquire the oral motor behavior for the skill assisted spoon feeding is important in case of feeding problems.