What is the management approach for a child with ataxia telangiectasia?

Management of Ataxia Telangiectasia in Children

Children with ataxia telangiectasia require immediate referral to a specialized multidisciplinary clinic, as aggressive proactive respiratory management is the primary mortality-reducing intervention for this progressive, fatal disease where respiratory complications are the leading cause of premature death. 1, 2

Immediate Diagnostic Confirmation

• Measure serum alpha-fetoprotein as the critical first screening test in any child presenting with persistent ataxia, as this is elevated in A-T and enables early diagnosis before telangiectasias appear (which typically don't develop until around 72 months of age). 1, 3

• Confirm diagnosis through genetic testing to identify ATM gene mutations and measure ATM protein kinase activity in specialized laboratories. 1

• Perform comprehensive immunological workup including total immunoglobulin levels and subclasses, specific IgG antibodies to tetanus, Haemophilus influenzae B and pneumococcal serotypes, and immunophenotyping of peripheral blood. 1, 2

Multidisciplinary Care Structure

Refer immediately to a specialized multidisciplinary A-T clinic that includes respiratory physicians, immunologists, neurologists, nutritionists, physical therapists, and speech/swallowing specialists, as this coordinated approach directly impacts survival. 1, 2, 4

Respiratory Management (Primary Mortality Prevention)

Monitoring Protocol

• Perform baseline spirometry in all children capable of completing the test, with reassessment at minimum twice yearly, as this detects subtle progression even without clinical symptoms. 1, 2

• Measure peak cough flow rate alongside forced vital capacity at every visit, as these are mainstays of clinical assessment for predicting respiratory decline. 1, 2

• Implement overnight polysomnography in adolescents with clinical suspicion of sleep-related breathing abnormalities, rapid or progressive lung function decline, or developing scoliosis. 1, 2

Airway Clearance

• Prescribe regular airway clearance techniques as standard care for all patients, intensifying during any respiratory symptoms. 1, 2

• Add nebulized hypertonic saline or inhaled mannitol as adjuncts to airway clearance in appropriate patients to enhance mucociliary clearance. 1, 2

Infection Prevention and Management

Vaccination

• Administer all available immunizations against respiratory pathogens including pneumococcal conjugate vaccine followed by pneumococcal polysaccharide vaccine, and inactivated annual influenza vaccine, as vaccine-preventable illnesses carry potentially fatal risks. 1, 2

Antibiotic Strategy

• Define recurrent respiratory tract infections as more than 3 per winter season requiring antibiotics or severe/atypical response to single infection. 1, 2

• Institute early aggressive antibiotic treatment with concurrent airway clearance when this threshold is met, as delays worsen bronchiectasis development. 1, 2

• Consider prophylactic antibiotic treatment when the burden of respiratory infections is high, if specific polysaccharide antibody deficiency is present, or when bronchiectasis is established. 1

• Perform regular surveillance microbiology on respiratory samples and initiate early aggressive treatment based on culture results. 1

Immunoglobulin Replacement

• Consider immune replacement therapy when hypogammaglobulinemia and/or specific antibody deficiency is present together with recurrent respiratory infections or established bronchiectasis, or when vaccinations and prophylactic antibiotics fail to control infections. 1, 2

Nutritional Management

• Perform annual assessment of nutritional adequacy and swallowing safety using videofluoroscopic swallow study (VFSS) as the gold standard for assessing pharyngeal phase abnormalities. 1, 2, 5

• Provide supplemental calories orally or enterally for worsening nutritional status, as malnutrition is a significant comorbidity that accelerates decline. 1, 2

• Consider early gastrostomy placement when swallowing is unsafe, nutrition is inadequate despite oral supplementation, or feeding disrupts daily activities, as this improves quality of life and reduces aspiration-related complications. 1, 2, 5

Physical Therapy and Rehabilitation

• Implement balance training programs and postural training to improve trunk control and reduce fall risk. 5, 4

• Prescribe and fit appropriate assistive devices (canes, walkers, ankle-foot orthoses) to improve balance and mobility as neurological decline progresses. 5

• Provide task-oriented upper limb training to improve reaching speed and reduce compensatory trunk motion. 5

• Incorporate inspiratory muscle training as this has shown positive impact on A-T-related respiratory impairments. 4

Radiosensitivity Precautions

• Exercise extreme caution with radiological investigations due to increased radiosensitivity and cancer risk—prefer MRI over CT when feasible to detect lung alterations without radiation exposure. 1, 2

• Avoid radiotherapy or use significantly reduced doses if malignancy develops, as standard radiation protocols cause severe toxicity in A-T patients. 1

Perioperative Management

When surgery is required (bronchoscopy, gastrostomy insertion, scoliosis surgery):

• Perform disease-specific perioperative optimization of pulmonary function in a multidisciplinary center, as anaesthetic risk is comparable to other medically complex pediatric patients when properly managed. 1, 2

• Anticipate increased aspiration risk and potential need for post-operative ventilatory support; plan for 24-hour supplemental oxygen availability. 1, 2

• Monitor perioperative glucose closely as patients may have impaired insulin secretion, insulin resistance, or glucose intolerance. 1, 2

• Avoid succinylcholine due to risk of hyperkalemia in patients with significant neuropathy and muscle weakness. 1, 2

• Perform all procedures in an inpatient hospital setting with pediatric intensive care availability, even for procedures that might otherwise be outpatient. 1

Cancer Surveillance

• Maintain heightened vigilance for malignancies, particularly lymphoid malignancies in the first two decades and solid organ malignancies in young adulthood, as cancer is a leading cause of death. 6, 7

• If malignancy develops, modify chemotherapy protocols to avoid radiomimetic drugs (bleomycin), neurotoxic agents, and topoisomerase inhibitors that increase risk of second malignancies. 1

Common Pitfalls to Avoid

• Misdiagnosing as cerebral palsy is the most common error (occurring in 29/48 cases in one series), delaying appropriate management and genetic counseling. 3

• Waiting for telangiectasias to appear before considering A-T—these typically don't develop until median age 72 months, while ataxia begins around 15 months. 3

• Failing to recognize that neurological severity does not correlate with life expectancy—respiratory and immunological management determines survival, not neurological impairment. 1

• Underestimating anaesthetic risk without proper multidisciplinary perioperative optimization. 1