{'fraction_non_alphanumeric': 0.02028526148969889, 'fraction_numerical': 0.001584786053882726, 'mean_word_length': 5.337349397590361, 'pattern_counts': {'":': 0, '<': 0, '<?xml version=': 0, '>': 0, 'https://': 0, 'lorem ipsum': 0, 'www.': 0, 'xml': 0}, 'pii_count': 0, 'substrings_counts': 0, 'word_list_counts': {'cursed_substrings.json': 0, 'profanity_word_list.json': 0, 'sexual_word_list.json': 0, 'zh_pornsignals.json': 0}}
Ataxia telangiectasia: a syndrome deserving attention and study

Rare diseases are often overlooked, simply because they are so uncommon. But collectively they can be the cause of much disability and distress, are hard to manage, and are not usually included in the academic preparation of health professionals. Due to their infrequency, clinicians may not recognize these conditions nor understand the sequelae, and not be prepared in terms of treatments and outcomes. Ataxia telangiectasia is one such disease. It is an unusual genomic instability syndrome which leads to severe disability. There is systematic inflammation and neurological impairment, which leads to multiple issues including motor-control deficits, poor growth, an increased susceptibility to infections as a result of reduced immune function, and reduced life expectancy. The complexity of the issues raises major management issues for both parents and clinicians. Because of its rarity, undertaking robust clinical research on ataxia telangiectasia is difficult. Providing evidencebased management is difficult in rare diseases; instead clinicians often rely on professional judgement, trial and error, or similar strategies. Insufficient nutrition, choking, and swallowing difficulties are negative outcomes of ataxia-telangiectasia and can underpin poor outcomes in terms of growth, behaviour, and infection. The paper by Lefton-Greif et al. on respiration and deglutition in ataxia telangiectasia is therefore welcome. The authors work within a specialist clinic for these children and young adults, providing a large enough group from which to identify the evidence needed to assist in clinical decision-making. Identifying specific issues of dysphagia leading to the risk of aspiration is critical in this group of children and young people. With an impaired immune system, aspiration is a major risk for pneumonia and chronic respiratory diseases generally. It also reduces nutrient intakes in a group with already severe nutritional issues. Singular diseases such as ataxia telangiectasia should not be judged by the same standards as more common events. The strengths of this study include the absence of invasive techniques, which in this group is preferred in terms of gaining agreement and compliance (even though invasive techniques might be preferred in other groups). Other major strengths are the total number of participants (n=20) and the age range (9–21y). Seeing these ‘limitations’ as strengths may be contentious, but in this target group it increases confidence in the results. The randomized controlled trial approach is not always relevant. Confidence comes from understanding that these issues occur across all ages and across all body mass index ranges. The limitation which is recognized by the authors lies within the cross-sectional nature of this study. But this does not detract from an important finding from the study: the ability to detect the first signs of perturbations, which can then be addressed earlier rather than later. This will enhance clinical practice and hopefully allow clinicians to intervene in a more timely and effective fashion.