Ataxia‐telangiectasia with female fertility

Ataxia-telangiectasia is a rare, neurodegenerative, and multisystem disease, characterized by cerebellar ataxia, oculocutaneous telangiectasia, immunodeficiency, progressive respiratory failure, and an increased risk of malignancies. It demands specialized care tailored to the individual patient's needs. Besides the classic ataxia-telangiectasia phenotype, a variant phenotype exists with partly overlapping but some distinctive disease characteristics. This guideline summarizes frequently encountered medical problems in the disease course of patients with classic and variant ataxia-telangiectasia, in the domains of neurology, immunology and infectious diseases, pulmonology, anaesthetic and perioperative risk, oncology, endocrinology, and nutrition. Furthermore, it provides a practical guide with evidence- and expert-based recommendations for the follow-up and treatment of all these different clinical topics.

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“…3 Female patients have been reported to give birth to typically developing children. 3,[144][145][146]…”

Section: Variant Ataxia-telangiectasiamentioning

confidence: 99%

Ataxia‐telangiectasia: recommendations for multidisciplinary treatment

Haaxma

Flier

et al. 2017

Develop Med Child Neuro

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“…Antenatal problems were reported in 20 cases (12 studies [ 84 , 106 , 108 , 129 , 143 , 231 , 236 , 263 , 372 , 384 , 404 , 407 ]) while 25 postnatal concerns were reported in 22 cases (12 studies [ 84 , 214 ]).…”

Section: Resultsmentioning

confidence: 99%

“…17 cases (10 studies [ 106 , 119 , 124 , 133 , 204 , 247 , 261 , 310 , 359 , 404 ]) reported a delay in diagnosis. Case reports were excluded from this analysis.…”

Section: Resultsmentioning

confidence: 99%

“…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

“…2642 cases (346 studies [ 17 – 19 , 23 , 24 , 29 , 35 – 38 , 42 , 47 , 49 , 75 , 80 , 87 , 91 , 99 – 101 , 103 , 104 , 106 – 113 , 115 , 116 , 118 – 126 , 128 , 129 , 131 , 132 , 134 , 138 , 139 , 141 , 143 , 145 , 147 , 149 , 150 , 152 , 155 , 158 , 166 , 168 , 172 , 174 – 176 , 180 , 181 , 222 – 234 , 236 – 240 , 242 , 244 , 247 , 248 , …”

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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