Clinical and immunological presentation of ataxia-telangiectasia

Boyarchuk, Oksana; Kostyuchenko, Larysa; Volokha, Alla; Bondarenko, Anastasia; Hilfanova, Anna; Boyko, Yaryna; Kinash, M. I.; Hariyan, Tetyana; Stepanovskyy, Yuriy; Volianska, L.A.; Chernyshova, Liudmyla

doi:10.31688/abmu.2020.55.4.03

Cited by 5 publications

(4 citation statements)

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“…1219 cases (177 studies [ 18 , 28 , 31 , 33 , 36 , 38 , 41 , 42 , 47 – 49 , 52 , 57 , 59 , 62 , 63 , 65 , 66 , 72 , 73 , 75 , 76 , 80 , 84 , 87 , 95 , 99 , 100 , 103 , 106 , 108 , 109 , 111 , 116 , 118 – 120 , 122 , 123 , 126 , 129 , 131 , 138 – 141 , 143 , 147 , 159 , 165 , 166 , 174 – 176 , 179 , 181 , 190 , 191 , 202 , 206 ,…”

Section: Resultsunclassified

“…294 cases (80 studies [ 18 , 23 , 24 , 42 , 52 – 54 , 61 , 66 , 75 , 76 , 80 , 84 , 88 , 91 , 101 , 104 , 108 , 111 , 166 , 175 , 179 , 190 , 194 , 212 , 217 , 221 , 224 , 225 , 228 , 230 , 231 , 236 , 239 , 242 , 244 , 248 , 254 , 259 , 270 , 271 , 274 , 289 , 290 , 315 , 331 , 347 , 366 , 372 , 384 , 394 , 401 , 403 , 406 , 414 , 426 ,…”

Section: Resultsunclassified

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The natural history of ataxia-telangiectasia (A-T): A systematic review

et al. 2022

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Background Ataxia-telangiectasia is an autosomal recessive, multi-system, and life-shortening disease caused by mutations in the ataxia-telangiectasia mutated gene. Although widely reported, there are no studies that give a comprehensive picture of this intriguing condition. Objectives Understand the natural history of ataxia-telangiectasia (A-T), as reported in scientific literature. Search methods 107 search terms were identified and divided into 17 searches. Each search was performed in PubMed, Ovid SP (MEDLINE) 1946-present, OVID EMBASE 1980 –present, Web of Science core collection, Elsevier Scopus, and Cochrane Library. Selection criteria All human studies that report any aspect of A-T. Data collection and analysis Search results were de-duplicated, data extracted (including author, publication year, country of origin, study design, population, participant characteristics, and clinical features). Quality of case-control and cohort studies was assessed by the Newcastle-Ottawa tool. Findings are reported descriptively and where possible data collated to report median (interquartile range, range) of outcomes of interest. Main results 1314 cases reported 2134 presenting symptoms. The most common presenting symptom was abnormal gait (1160 cases; 188 studies) followed by recurrent infections in classical ataxia-telangiectasia and movement disorders in variant ataxia-telangiectasia. 687 cases reported 752 causes of death among which malignancy was the most frequently reported cause. Median (IQR, range) age of death (n = 294) was 14 years 0 months (10 years 0 months to 23 years 3 months, 1 year 3 months to 76 years 0 months). Conclusions This review demonstrates the multi-system involvement in A-T, confirms that neurological symptoms are the most frequent presenting features in classical A-T but variants have diverse manifestations. We found that most individuals with A-T have life limited to teenage or early adulthood. Predominance of case reports, and case series demonstrate the lack of robust evidence to determine the natural history of A-T. We recommend population-based studies to fill this evidence gap.

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Section: Resultsunclassified

The natural history of ataxia-telangiectasia (A-T): A systematic review

et al. 2022

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“…Bronchopulmonary dysplasia and ataxia-telangiectasia emerge as enigmatic parallels in the context of CP, adding to the complex clinical tapestry. While bronchopulmonary dysplasia, often an aftermath of ventilator dependence in infancy, ushers in chronic respiratory morbidity, ataxiatelangiectasia presents an intricate maze marked by ataxia, immunodeficiency, malignancy susceptibility, and respiratory vulnerabilities (9,26,33,37).…”

Section: Discussionmentioning

confidence: 99%

“…Foremost among these manifestations is ataxia, the quintessential neurological hallmark that often becomes discernible when infants venture into the realms of walking and sitting (37). Regrettably, a paucity of awareness surrounding this condition frequently begets diagnostic delays, leading to the 129 Biomed Rev 34, 2023 Unveiling Respiratory Challenges in Cerebral Palsy: A Comprehensive Review presentation of afflicted individuals as adults grappling with an array of complications.…”

Section: Ataxia-telangiectasia and Its Nexus With Cerebral Palsymentioning

confidence: 99%

Unveiling Respiratory Challenges in Cerebral Palsy: A Comprehensive Review

Peneva,

Pancheva,

Nikolova

2023

Biomedical Reviews

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Respiratory issues pose significant challenges for individuals with cerebral palsy (CP), often leading to high morbidity and mortality rates. This review focuses on the complex factors influencing the respiratory health of CP patients. Recurrent lung infections are a leading cause of CP-related complications, underlining the importance of optimizing airway health to enhance quality of life and life expectancy. The diagnosis of respiratory diseases in CP patients can be challenging due to atypical symptoms, indirect communication, limited investigations, and accessibility to medical examinations. Common risk factors for lung infections include recurrent aspiration, compromised airway clearance, and spinal or chest wall deformities. Additionally, nutritional status significantly impacts outcomes, with malnutrition prevalent among CP patients and influencing both respiratory health and overall well-being. An interdisciplinary approach is crucial to managing these multifaceted issues, necessitating the collaboration of specialists and interventions targeting various aspects of CP-related respiratory problems. This review emphasizes the significance of early identification, comprehensive evaluation, and tailored interventions to improve the respiratory health of individuals with CP.

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