Ataxia Telangiectasia in Siblings: Oral Motor and Swallowing Characterization

Rondon-Melo, Silmara; Almeida, Isabel Junqueira de; Andrade, Cláudia Regina Furquim de; Sassi, Fernanda Chiarion; Molini-Avejonas, Daniela Regina

doi:10.12659/ajcr.903592

Cited by 3 publications

(3 citation statements)

References 18 publications

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“…66 cases (14 studies [ 35 , 226 , 233 , 345 , 431 , 448 , 449 , 463 , 659 , 743 , 768 , 818 , 909 , 916 ]) reported a diagnosis of fatty liver or hepatic steatosis and age of diagnosis was reported in 2 cases (252.0 months and 336.0 months). Seven cases were in the presumed/confirmed variant group and 59 cases were in the presumed/confirmed classical group.…”

Section: Resultsmentioning

confidence: 99%

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: Resultsmentioning

confidence: 99%

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

et al. 2022

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“…12 According to Félix et al 13 , training the inspiratory muscles has a positive effect on the pulmonary function in AT. Also, Rondon-Melo et al 14 stated that oral rehabilitation is needed early in AT. One of the first studies in this area, Unes et al 15 found that 3 months of training consisting of balance and strength exercises and Wii Fit Balance-based video games resulted in significant improvements in AT.…”

Section: Discussionmentioning

confidence: 99%

Physiotherapy and rehabilitation approach in ataxia telangiectasia syndrome: A case report

Turhan,

Özcelep,

Karaçay

et al. 2023

SYBD

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Objective: Ataxia Telangiectasia (AT) also known as Louis-Bar syndrome, is a rare autosomal recessive genetic disease characterized by cerebellar ataxia, oculocutaneous telangiectasias, and immunodeficiency. This disease is characterized by clinical pictures such as balance, coordination, and gait disorder. This case report aims to examine the short-term effects of physiotherapy and rehabilitation practices consisting of balance and gait exercises on a pediatric patient with AT. Case: A 9-year-old girl diagnosed with AT presented with loss of balance. Sociodemographic data of the patient such as age, height, weight, sex, and BMI were recorded. The patient's balance was evaluated with The Pediatric Balance Scale (PBS), The Functional Reach Test (FRT) and The Timed Get Up and Go Test (TUG); the level of functional independence was evaluated with The Pediatric Functional Independence Scale (WeeFIM). The patient received 30 sessions of physiotherapy 4 times per week for 8 weeks, each session 45-60 minutes. Evaluations were made before and after 8 weeks of treatment. Results: The pre-treatment values were found to be PBS 22, FRT 16 cm, TUG 17.2 sec, and WeeFIM 62. Post-treatment values were calculated as PBS 22, FRT 18 cm, TUG 15.6 sec, and WeeFIM 62. Conclusion: The physiotherapy and rehabilitation approach in patients with AT will be effective in improving symptoms such as balance and coordination disorders.

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“…Félix et al14 reported that the inspiratory muscle training is effective on pulmonary functions in the children with AT. Rondon-melo et al25 stated that oral rehabilitation is needed early for children with AT. Apart from these 2 studies, there was no study showing the effectiveness of a physical therapy program, although it has been reported that exercise and physical therapy might minimize the negative effects 15.…”

Section: Discussionmentioning

confidence: 99%

Effectiveness of Physical Therapy on Ataxia-Telangiectasia: A Case Report

Üneş

Tunçdemir

Eroglu-Ertugrul

et al. 2021

Pediatric Physical Therapy

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Background and Purpose: This case report investigated the benefits of a 12-week physical therapy program for a child with ataxia-telangiectasia (AT). Case Description: A 9-year-old girl with a diagnosis of AT participated. The physical therapy program consisted of balance and strength exercise and Wii Fit Balance-based video games training with a pediatric physical therapist for 12 weeks. Measurements: The motor performance, Gross Motor Function Measurement (GMFM), Pediatric Berg Balance Scale (PBBS), Trunk Control Measurement Scale (TCMS), participation as measured by the Life Habits Questionnaire (LIFE-H), and the Pediatric Quality of Life Inventory (PedsQL). Outcomes: Positive changes were observed in the TCMS, PBBS, GMFM, and motor performance, participation, and quality of life. Conclusions: Notable improvements were observed in both body structure and function, and activities and participation level. What This Adds to Evidence: This case report is the first to support the effectiveness of physical therapy in a child with AT.

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Ataxia Telangiectasia in Siblings: Oral Motor and Swallowing Characterization

Cited by 3 publications

References 18 publications

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

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

Physiotherapy and rehabilitation approach in ataxia telangiectasia syndrome: A case report

Effectiveness of Physical Therapy on Ataxia-Telangiectasia: A Case Report

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