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PubMed This is a summary of 22 peer-reviewed journal articles Updated
Pulmonology

Long-Term Monitoring and Warning Signs

At a Glance

Children with ataxia-telangiectasia need regular checks by several specialists for breathing, swallowing, immune health, growth, and movement, along with attention to cancer risk. Caregivers should follow a personalized sick-day plan and seek urgent help for sudden or severe changes.

Living with Ataxia-Telangiectasia (A-T) requires a shift in how you view medical care: it moves from “reactive” (going to the doctor when sick) to “proactive” (monitoring to stay ahead of complications) [1][2]. While the gradual progression of balance issues is a known part of A-T, long-term monitoring focuses on the “hidden” systems—the lungs, the immune system, and the risk of malignancy [3][4].

Proactive Monitoring Schedule

Because A-T is rare, there is no single “universal” schedule, but international experts recommend a multidisciplinary check-up at least once or twice a year [2][4]. Your child’s plan should typically include:

  • Pulmonary (Every 6–12 Months): Checking oxygen levels, assessing cough strength, and monitoring for “silent” aspiration [3][5]. Note that routine questioning and oxygen checks cannot fully rule out silent aspiration; formal SLP assessment is considered when symptoms arise [6].
  • Immunology (Every 6–12 Months): Reviewing infection history and checking antibody levels (IgG, IgA, IgM) [1][7].
  • Oncology Surveillance: Periodic physical exams to check lymph nodes and the abdomen [2]. Some centers may use whole-body MRI or ultrasound to screen for tumors without using radiation [8][9]. Discuss the benefits and harms of any screening test with your doctor to avoid assuming that more imaging is always better.
  • Neurology & Nutrition: Tracking motor milestones and ensuring your child’s BMI and growth are on a healthy trajectory [2][10].

Recognizing the “Red Flags”

It is essential to distinguish between the expected, gradual changes of A-T and symptoms that require immediate medical attention. Work with your specialist team to create a written, individualized sick-day plan.

1. Emergency Services (Call 911 or Go to ER)

Seek emergency care immediately if your child experiences:

  • Severe Respiratory Distress: Struggling to breathe, very fast breathing, or using chest muscles to “pull” in air [11].
  • Cyanosis: A bluish or gray tint to the lips, tongue, or fingernails [11].
  • Acute Choking: Inability to clear their airway or persistent coughing/wheezing after a choking episode [12].
  • Altered Mental State: Being unusually difficult to wake up or appearing extremely confused/lethargic [11].
  • Acute Neurologic Changes: Sudden or rapidly worsening ataxia, new focal weakness, severe headache, seizure, acute change in speech or consciousness, or sudden inability to walk. (These are NOT the expected progression).

2. Follow Sick-Day Plan

Contact your child’s medical team the same day based on your individualized sick-day plan for:

  • Fever: Any fever that hits your clinician-defined threshold, particularly with cough, breathing change, poor intake, or altered behavior [13][1].
  • New “Lumps or Bumps”: Swollen lymph nodes in the neck, armpits, or groin that are firm or growing [14][13].
  • Significant Pallor or Bruising: Appearing unusually pale, acting extremely weak (asthenia), or having easy bruising/bleeding [13][14].
  • Abdominal Changes: A “full” or firm feeling in the belly, or visible swelling in the stomach area [14][15].

3. Raise at Your Next Appointment

These are important but typically not emergencies:

  • Gradual Changes: A slow decrease in walking speed, subtle voice changes, or taking longer to finish meals [16][6].
  • School or Fatigue Issues: Increased tiredness during the school day or needing more frequent rests [17].

Navigating the Psychological Burden

The “waiting” between appointments and the stress of scans—often called scan anxiety—is a heavy burden for parents [18]. It is normal to feel a sense of persistent uncertainty [19].

  • Preparation is Key: For children, using “child-life” specialists or age-appropriate explanations can make MRIs less frightening [8][18].
  • Parental Well-being: Experts recommend that clinicians check in on your mental health during appointments [19]. Don’t hesitate to ask for a referral to a counselor or social worker who specializes in rare diseases [19].
  • Connection: Many families find strength in peer networks, where they can share practical tips and find mentorship from those further along in the journey [19][20].

What is NOT an Emergency

Because A-T is progressive, you will notice your child’s balance and coordination changing over the months and years [21]. While these changes are significant, a gradual increase in “wobbliness” or a slow change in hand coordination already reviewed by the care team is the expected course of the condition and does not usually mean an acute crisis is happening [22]. Monitoring is your tool to ensure that while the ataxia progresses, your child’s internal health remains as protected as possible [1][2].

Common questions in this guide

How often should a child with ataxia-telangiectasia be monitored?
There is no single schedule for every child. International expert guidance commonly supports a multidisciplinary review at least once or twice a year, with pulmonary and immunology checks often every 6–12 months; the child’s specialists should individualize the plan.
Which symptoms mean I should call emergency services for a child with A-T?
Call emergency services for severe trouble breathing, blue or gray lips or nails, choking with inability to clear the airway, extreme difficulty waking or confusion, or sudden neurologic changes such as a seizure, new weakness, severe headache, or sudden inability to walk. These signs are different from the usual gradual progression and need immediate evaluation.
When should I contact my child’s A-T team about a fever or other new symptom?
Use the individualized sick-day plan and call the team the same day when your child reaches the clinician-defined fever threshold, especially if there is a cough, breathing change, poor intake, or altered behavior. Same-day advice is also appropriate for growing firm lymph nodes, marked pallor or weakness, unusual bruising or bleeding, or a swollen or firm abdomen.
How is silent aspiration monitored in A-T?
Oxygen checks and routine questions may not detect silent aspiration. If swallowing concerns, coughing, choking, or other symptoms arise, ask whether a formal assessment by a speech-language pathologist is appropriate.
Is gradual worsening of balance an emergency in A-T?
A slow increase in wobbliness or hand-coordination problems that has already been reviewed is often part of A-T’s expected progression and does not usually signal an acute crisis. Sudden or rapidly worsening ataxia, new weakness, seizure, severe headache, speech or consciousness changes, or sudden inability to walk requires emergency evaluation.
How can families manage anxiety about scans and long-term monitoring?
Child-life specialists can use age-appropriate explanations to make scans less frightening, and a counselor or rare-disease social worker can support caregiver wellbeing. Peer support networks may also offer practical advice and connection.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.Can we create a written, individualized 'sick-day plan' that specifies our exact fever threshold and who to call after hours?
  2. 2.Given the risk of silent aspiration, what clinical signs should prompt us to request a formal speech-language assessment?
  3. 3.If an emergency visit is necessary, is there a one-page summary or specialist contact number we can hand to the local ER staff?
  4. 4.What is the recommended routine clinical follow-up schedule for this year across pulmonary, immunology, and neurology?
  5. 5.Can you help us connect with a child-life specialist or counselor to help manage the anxiety surrounding medical visits and scans?

Questions For You

Tap a prompt to share your answer — we'll use it plus this page's context to start a tailored conversation.

References

References (22)
  1. 1

    An overview of proactive monitoring and management of respiratory issues in ataxia-telangiectasia in a specialist and shared care pediatric clinic.

    Bhatt JM, Bush A

    Frontiers in pediatrics 2024; (12()):1479620 doi:10.3389/fped.2024.1479620.

    PMID: 39764161
  2. 2

    Ataxia-telangiectasia: recommendations for multidisciplinary treatment.

    van Os NJH, Haaxma CA, van der Flier M, et al.

    Developmental medicine and child neurology 2017; (59(7)):680-689 doi:10.1111/dmcn.13424.

    PMID: 28318010
  3. 3

    ERS statement on the multidisciplinary respiratory management of ataxia telangiectasia.

    Bhatt JM, Bush A, van Gerven M, et al.

    European respiratory review : an official journal of the European Respiratory Society 2015; (24(138)):565-81 doi:10.1183/16000617.0066-2015.

    PMID: 26621971
  4. 4

    Development of cancer surveillance guidelines in ataxia telangiectasia: A Delphi-based consensus survey of international experts.

    Neves R, De Dios Perez B, Panek R, et al.

    Cancer medicine 2023; (12(13)):14663-14673 doi:10.1002/cam4.6075.

    PMID: 37264737
  5. 5

    Immune competence and respiratory symptoms in patients with ataxia telangiectasia: A prospective follow-up study.

    Wölke S, Donath H, Bakhtiar S, et al.

    Clinical immunology (Orlando, Fla.) 2020; (217()):108491 doi:10.1016/j.clim.2020.108491.

    PMID: 32504779
  6. 6

    Long-term nutritional and gastrointestinal aspects in patients with ataxia telangiectasia.

    Krauthammer A, Lahad A, Sarouk Y, et al.

    Nutrition (Burbank, Los Angeles County, Calif.) 2018; (46()):48-52 doi:10.1016/j.nut.2017.08.008.

    PMID: 29290356
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    Sarcoidosis-like Skin Lesions as the First Manifestation of Ataxia-Telangiectasia.

    Milanovic B, Vijatov-Djuric G, Djuretic A, et al.

    Children (Basel, Switzerland) 2025; (12(6)) doi:10.3390/children12060672.

    PMID: 40564629
  8. 8

    Feasibility of whole-body MRI for cancer screening in children and young people with ataxia telangiectasia: A mixed methods cross-sectional study.

    Neves R, Panek R, Clarkson K, et al.

    Cancer medicine 2024; (13(14)):e70049 doi:10.1002/cam4.70049.

    PMID: 39056567
  9. 9

    Imaging in children with ataxia-telangiectasia-The radiologist's approach.

    Jończyk-Potoczna K, Potoczny J, Szczawińska-Popłonyk A

    Frontiers in pediatrics 2022; (10()):988645 doi:10.3389/fped.2022.988645.

    PMID: 36186632
  10. 10

    Growth in ataxia telangiectasia.

    Natale VAI, Cole TJ, Rothblum-Oviatt C, et al.

    Orphanet journal of rare diseases 2021; (16(1)):123 doi:10.1186/s13023-021-01716-5.

    PMID: 33691726
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    Severe Acute Respiratory Distress Syndrome (ARDS) or Severely Increased Chest Wall Elastance?

    Lindner S, Dürschmied D, Akin I, Britsch S

    Cureus 2022; (14(2)):e22541 doi:10.7759/cureus.22541.

    PMID: 35345704
  12. 12

    Ataxia Telangiectasia in Siblings: Oral Motor and Swallowing Characterization.

    Rondon-Melo S, de Almeida IJ, Andrade CRF, et al.

    The American journal of case reports 2017; (18()):783-789 doi:10.12659/ajcr.903592.

    PMID: 28698541
  13. 13

    Macrophage Activation Syndrome Revealing Hodgkin Lymphoma: A Pediatric Case Report.

    Hared Bouh A, Moussa Sougueh O, Miqdadi A, et al.

    Cureus 2025; (17(4)):e82962 doi:10.7759/cureus.82962.

    PMID: 40416268
  14. 14

    Ataxia-telangiectasia complicated with Hodgkin's lymphoma: A case report.

    Li XL, Wang YL

    World journal of clinical cases 2020; (8(11)):2387-2391 doi:10.12998/wjcc.v8.i11.2387.

    PMID: 32548172
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    Childhood colon cancer in a patient with ataxia telangiectasia.

    Jo KM, Yang SY, Park JH, et al.

    Annals of translational medicine 2016; (4(1)):11 doi:10.3978/j.issn.2305-5839.2015.12.59.

    PMID: 26855947
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    Effectiveness of Person-Environment-Occupation Model on a Pediatric Neurodegenerative Disease: A Case Report of a Child with Ataxia-Telangiectasia.

    Joveini G, Malja M, Hejazi-Shirmard M

    Occupational therapy in health care 2023; (37(4)):513-524 doi:10.1080/07380577.2022.2059824.

    PMID: 35382675
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    Functional parameter measurements in children with ataxia telangiectasia.

    Shenhod E, Benzeev B, Sarouk I, et al.

    Developmental medicine and child neurology 2020; (62(2)):207-213 doi:10.1111/dmcn.14334.

    PMID: 31468510
  18. 18

    Whole-body MRI for cancer surveillance in ataxia-telangiectasia: A qualitative study of the perspectives of people affected by A-T and their families.

    Neves R, Perez BD, Tindall T, et al.

    Health expectations : an international journal of public participation in health care and health policy 2023; (26(3)):1358-1367 doi:10.1111/hex.13756.

    PMID: 36929011
  19. 19

    How parents of children with ataxia-telangiectasia use dynamic coping to navigate cyclical uncertainty.

    Schiller J, Towne MC, Epstein R, et al.

    Journal of genetic counseling 2024; (33(2)):301-313 doi:10.1002/jgc4.1727.

    PMID: 37183503
  20. 20

    Early diagnosis of ataxia telangiectasia in the neonatal phase: a parents' perspective.

    Schoenaker MHD, Blom M, de Vries MC, et al.

    European journal of pediatrics 2020; (179(2)):251-256 doi:10.1007/s00431-019-03479-5.

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  21. 21

    A novel mutation in ATM gene in a Saudi female with ataxia telangiectasia.

    Algahtani H, Shirah B, Algahtani R, et al.

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This page is for informational purposes only and does not constitute medical advice. It describes general A-T monitoring and warning signs; use your child’s individualized sick-day plan and care team for decisions.

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