Ataxia telangiectasia in a Bahraini child treated with intensive physiotherapy: A case report

Introduction

Ataxia Telangiectasia (AT), also known as Louis Bar syndrome, first described in 1957, was given its name by Boder and Sedgwick who described a familial syndrome of progressive cerebellar ataxia, oculocutaneous telangiectasia and frequent pulmonary infection.¹ It is an autosomal recessive cerebellar ataxia and is characterized as a genome instability syndrome, a chromosomal instability syndrome, a DNA repair disorder, a DNA damage response (DDR) syndrome and, less commonly, as a neurocutaneous syndrome.² It involves genetic mutation of the chromosome 11q26. The incidence of AT ranges between 1:40,000 and 1:300,000, affecting both genders at in equal rate.³ The common clinical features between all the variants of AT are cerebellar ataxia, extrapyramidal movement disorder, peripheral neuropathy, dysarthria, dysphagia, and oculomotor apraxia. Moreover, there is an increased susceptibility to malignancy, pulmonary disease, and endocrine abnormalities.⁴ With the exception of consanguineous populations, individuals of all ethnicities are affected equally by AT.⁵

Clinical presentation of ataxia telangiectasia

AT is a complex disease as such clinical presentation and laboratory findings may defer between patients. AT usually appears during the toddler stage when children begin to sit and walk, where they start walking at a normal age but then fail to improve much from their initial wobbly gait. Presentation usually shows a tendency to sway slowly from side to side or backwards while walking. Additional features include difficulty reading due to impaired coordination of eye movement, impairment of fine movements like writing, colouring and using utensils to eat, and dysarthria. At any age patients with AT may develop increasing difficulty in involuntary movements like chorea, athetosis, dystonia, myoclonic jerks and various tremors. Other extrapyramidal symptoms include hypokinesia, bradykinesia and facial hypomimea.⁵ AT is classified into two types: classic AT also known as typical, early onset, childhood onset, and variant AT also known as variant, atypical, late onset or adult onset.^3,4 Atypical or variant AT presents with neurological dysfunction with reduced neurological phenotype and lower risk of complications (Table 1).^5,6 Telangiectasia within the bulbar conjunctive over the sclera of the eyes occurs between the ages of 5 and 8, additionally it can also appear on sun-exposed areas of the skin, face and ears. However, the absence of telangiectasia does not exclude the diagnosis of AT. AT has immunological manifestations that include sinopulmonary infections and an increased risk of developing autoimmune or chronic inflammatory diseases.⁵ In addition to that, people with AT have a highly increased incidence (approximately 25% lifetime risk) of cancers more commonly leukemias and lymphomas. Other cancers have also been observed including breast, liver, gastric and esophageal carcinomas.^5,7

Diagnosis of ataxia telangiectasia

AT is caused by a mutation in the ATM gene which is located on human chromosome 11q22-q23.⁸ Due to its rare occurrence, an AT diagnosis can be made by the combination of clinical features and imaging. Magnetic resonance imaging (MRI) is the preferred modality of choice, especially in the peadiatric population because of the absence of radiation, as well as improved visualization of the brain and spinal cord. For the majority of the patients, the initial neuroimaging studies are normal, but as the disease progresses MRI shows progressive and diffuse cerebellar atrophy. Other findings include hemosiderin deposits and deep cerebral telangiectatic vessels, as well as degenerative changes in white matter corticomotor tracts extending from the cerebellum.^9,10 Furthermore, a definitive diagnosis of AT is confirmed by genetic testing to check for any abnormality in the ATM protein and/or ATM kinase activity in cultured cell lines from lymphocytes or skin biopsies or identifying pathological mutations in the ATM gene.^5,11

This case report presents a case of a 9-year-old girl diagnosed with classic AT based on childhood presentation that was confirmed by MRI and genetic testing. The patient underwent an intensive physiotherapy treatment in which repetitions and sets provided successful outcomes. This case report further discusses early physiotherapy interventions which are defined as 2 weeks from diagnosis for training parameters to better enhance the patients’ quality of life. Thus far, the patient has received 1 year of physiotherapy treatments. For the first 2 months, the patient attended three visits per week for 1.5h to conduct intensive exercises in terms of sets and repetition. Then, for the following 10 months, visits were reduced to two visits per week and concentrated on functional exercises incorporated into her daily living activity.

Case Presentation

Patient history

A 9-year-old girl was presented to the physiotherapy clinic with difficulty in walking independently and impaired balance upon movement.

Paediatric consultation

Previous medical reports provide complaints of progressively worsening gait problems with frequent falls, swaying from side to side as well as slurring of speech. The patients’ parents noticed impaired balance in both upper and lower limbs at the age of 8 years old. She was repeatedly taken to health centres and hospitals where she was misdiagnosed with vitamin D and B12 deficiencies. There was no history of recurrent sinopulmonary infections. Previous medical history was unremarkable with no family history of similar problems.

Radiological investigations

Upon progression of symptoms, the patient was referred to paediatric neurologist where an MRI imaging revealed atrophy in the cerebellum. A brain MRI was done for the patient that showed the presence of mild symmetrical atrophy of bilateral cerebellar hemispheres (Figures 1 and 2). Patient regularly visits the paediatric neurologist and paediatric orthopaedics every 6 months for regular follow-ups and symptom evaluations. Thus far, no new symptoms or worsening of symptoms have been reported.

Genetic testing

Following the neurologist’s visit, the patient was referred for genetic testing. An autosomal recessive disorder was suspected, and a genetic test was requested as the unaffected parents had a consanguineous marriage. The test confirmed a diagnosis of AT, where a frameshift mutation was found at stop codon 4 on ATM.

Physiotherapy consultation and examination

After receiving a final diagnosis, the patient was referred to physiotherapy, and seen a week after diagnosis. Upon presentation to the physiotherapy clinic, the patient had good eye-to-eye contact, full extra-ocular movements, pupils were equal and reactive to light but there was an element of gaze-evoked nystagmus and oculomotor apraxia. Moreover, she had choreoathetosis, a wide-based gait with impaired balance and she needed assistance upon walking. In both lower limbs, the tone was decreased, the coordination was impaired, and the power was decreased to 3/5 with brisk deep tendon reflexes. The patient had no clear neurocutaneous stigmata. The patient has been in physiotherapy for approximately 1 year and continues to attend follow-up visits.

Physiotherapy treatment plan and outcomes

At the initial time of treatment, measurement outcomes were taken that included the paediatric balance scale, the trunk control measurement scale (TCMS), and the gross motor function measure (GMFM). Respectively, pre-treatment scores were: 18, 30/58, and 77.2%. The training variability is reflected in its known five key elements: (1) Intensity, the number of visits per week which was three per week for the first 2 months and then reduced to twice for 10 months and time spent per session was around 1.5h. 1kg weight was added according to the patient’s tolerance. (2) Repetitions and sets, she had three sets of reputations and incrementally increased weekly. (3) Time under tension, stretching exercises included holding for 20 s minimum. Planks started from 30s to 1min. (4) Exercise selection, they were done based on the deficits and pre outcome measures. (5) Rest intervals, the rest intervals between exercises were 30s and were modified slightly according to the patient’s tolerance. For the first 2 months, the patient underwent intensive sessions three times per week that targeted four elements: lifestyle changes, muscle strength, coordination, and balance (Table 2). The exercises had greater or equal to 10 exercises with more frequent repetitions and sets. For the patient to become more independent, the goal was to increase muscle strength of the upper extremities, core muscles and lower extremities. With increased strength, in neurological disorder cases, it is important to train neuromuscular skills.¹² Therefore, coordination and balance were embedded with strengthening exercises.¹³ When the patient sustained enough muscle strength such as normal gripping strength, planking for more than 1min, ability to do 10 sit-to-stand exercises and bridging exercises without swaying, the patient’s exercise intensity was reduced. The patient was encouraged to be more independent while walking and her parents were asked to provide a posterior paediatric walker.¹⁴ She was also encouraged to improve fine motor skills with simple activities such as drawing, colouring, cutting with scissors, and writing. Lastly, to improve her coordination and balance a variety of exercises were also incorporated. Daily bike riding was advised with precautions to improve patient’s strength and navigation of direction in order to target coordination. This core strengthening exercise also targeted lower limb and upper limb muscles. The patient started to integrate these exercises and activities into her day-to-day life and was noted to become more independent with an improved quality of life at home and school. In the following 10 months, the frequency of visits to the physiotherapy clinic was reduced to twice sessions per week, where the main focus was on increasing fine movements, dexterity, and task-oriented exercises with the maintenance of the aforementioned four elements. During subsequent follow-up visits, the patient was able to walk with the posterior paediatric walker without assistance from her parents, climb the stairs without rails, sit on chairs without arm rests and pick things from the ground with minimal assistance.

After 1 year of physiotherapy treatments, the measured outcomes were reassessed for post-treatment. The paediatric balance scale showed an improved score of 20. There was an improvement in standing to sitting. From “controlling descent by using hands” to “sitting safely” with minimal use of hands. Additionally, the patient improved in turning to look back. From “needs assist to keep from losing balance or falling; movement of the chin is less than half the distance to the shoulder” to “turns head to look to level of shoulder; no trunk rotation”. TCMS showed an improved score of 32/58. Improvement was seen in the following functions:

GMFM was higher than the initial assessment, rising to 88.3%, improvement was seen by task (Table 3):

The treatment faced some limitations as some of the exercises were recommended for daily repetition. This meant that the caregivers’ compliance of doing activities at home may have not at the proper intensity although telerehabilitation between the physiotherapist and caregivers was implemented. The patient does have occasional mood swings, which may have affected the intensity of the treatment, sometimes resulting in cancelled or postponed appointments. Using telerehabilitation interventions improved the functional level of treatment, patients’ high levels of satisfaction and adherence.¹⁵ Furthermore, at times the patient experiences frequent fatigue in upper extremities due to constantly using their arm for support in daily tasks. Moreover, some precautions are to give the patient assistance and proper supervision from a caregiver’s perspective or a physiotherapist’s perspective to reduce the risk of falling.

Discussion

Based on the measured outcomes, we achieved the goal that allows the patient to conduct daily functions based on the physiotherapy treatment provided. The paediatric balance scale improvement that was adapted for children reflects practical balance skills that are relevant to daily activities.¹⁶ TCMS on the other hand reflects upon the abilities of the patient to maintain a steady posture while sitting and preform controlled movement in a seated position. This scale is used in comprehensive rehabilitation programs to emphasize overall motor function and quality of life.¹⁷ In our case, the improved outcome has proven the reliability of this scale in reflecting functional outcomes. Furthermore, the GMFM scale has been used to assess children with developmental motor disorders such as AT emphasizing on the functionality of large muscle groups and coordination.¹⁸ This score has also improved after the physiotherapy treatment that was provided for the patient. Maintenance of enhanced quality of life includes consistent follow-up visits post-treatment.

Management of ataxia telangiectasia

The mainstay management of treatment of AT is symptomatic and supportive. There is no treatment known to slow or stop the progression of the neurological deficits associated with AT. Physical, occupational, speech therapies and exercise help maintain the function.⁵ A clinical guidance document on the diagnosis and treatment of AT is published by the UK AT Society. There are clinical guidelines in the literature for the management of AT, like the guidelines published by the UK AT Society.¹⁹ These guidelines aim to encourage a consistent multidisciplinary approach to treating AT.^19,20 As in our case, the mainstay of treatment is physiotherapy and supportive care.

A physiotherapist’s perspective on treatment

In our patient, a tailored approach was done based on her presenting symptoms and previous literature about physiotherapy in patients with AT. The main aim was to achieve independency in the patient’s activities of daily living. The approach consisted of four elements in the form of a tailored exercise program as aforementioned.

Unes et al. reported a similar case of a 9-year-old patient with AT where exercises that increase balance and trunk control were implemented. These were shown to increase independence in various activities of daily living and quality of life.¹² Therefore, the mainstay of exercises that were done in our patient were the core and back exercises, with emphasis on the gluteal muscles. Those muscles help in achieving stable trunk control to progress to a reduced degree of freedom in joints during balance and coordination exercises. The patients’ physical ability improved to the point of performing plank for 1min with trunk stability as well as bridging on a medicine ball without swaying the trunk.

Moreover, a scoping review in the literature showed various physiotherapy interventions and training parameters that were utilized in the management of patients with AT, amongst them was the use of a posterior paediatric walker.¹⁴ Therefore, our patients’ parents were asked to provide a posterior paediatric walker to assist her in mobilization. In a social environment, the patient was able to grow her confidence by participating in physical activities in school while using the posterior paediatric walker. Additionally, it has been observed that her ataxic and muscle fatigue symptoms reduced.

A positive outcome was seen 2 months after physiotherapy where the patient went from difficulty in climbing the stairs to climbing the stairs independently while holding on to the rails. The patient started shifting from one position to the other independently, for example, from the sitting position to the standing position. Fine motor skills have also exhibited mass improvement, like colouring within the borderlines and eating with cutlery. Therefore, the patient’s rehabilitation was achieved early and concentrated on balance and coordination elements.

Lastly, home programs were a necessity where they were followed daily as it has a role in accelerating the improvement and benefit of the exercises given. The home program included exercises manifested in daily activities. The program was changed according to the needs of the patient every week and monitored by the caregivers. The caregivers were advised to continue these given exercises and home programs daily to maintain a long-term positive outcome.

Outcome and prognosis of ataxia telangiectasia

Early rehabilitation that includes balance and coordination exercises has been proven to significantly benefit motor performance and improve function, mobility, and achievement of personal goals in terms of daily activities.²⁰ Motor stability, reduction in ataxic symptoms and coordination have been gained through early rehabilitation according to the literature.²¹ Therefore, the patient’s early rehabilitation concentrated on balance and coordination elements that resulted in a positive outcome.

Patients with the classic AT typically have a life length of two to three decades. The few long-term survivors have a multisystem complex disorder with a myriad of pulmonary, endocrine, cardiovascular and gastrointestinal problems and all patients need long-term follow-up, counselling and proper care.²² In our case, the patient and the immediate family are advised to maintain regular follow-up appointments as well as monitor symptoms closely.

Conclusion

In summary, we reported a rare case of AT in a child treated effectively with physiotherapy with positive outcomes for a duration of 1 year. Our case report emphasizes the importance of proper physiotherapy treatment in enhancing the quality of life of patients with AT, when it is based on symptoms rather than the condition. In addition, the physiotherapist must be able to target long-term management plans to build on the quality of life.

Ethical Approval

The requirement for ethical approval to publish a case report is waived from the institutes. This case report was reviewed by a research authority for its eligibility for publication and patient confidentiality requirements.

Conflict of Interest

None to declare.

Funding/Support

This work did not receive any financial or logistical support

Author Contributions

FR, AA, and IS contributed to the conceptualization, revisions, and the writing of the report.

ORCID

Fatima Razzaqi  https://orcid.org/0009-0005-3746-5842

Aysha Albastaki  https://orcid.org/0000-0002-6613-6088

Israa Sinan  https://orcid.org/0000-0001-7320-7158