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PubMed This is a summary of 11 peer-reviewed journal articles Updated
Neurology

Building Your Care Team and Monitoring Progress

At a Glance

BPAN care works best when neurology, genetics, rehabilitation, gastroenterology, nutrition, behavioral health, and other specialists coordinate regular monitoring of seizures, movement, development, growth, vision, puberty, and safety needs.

Because Beta-propeller Protein-Associated Neurodegeneration (BPAN) changes over time, care cannot be managed by a single doctor. Instead, it requires a multidisciplinary team—a group of specialists working together to support evolving needs [1][2]. This team monitors health, tracks development, and steps in with new strategies through childhood, adolescence, and adulthood.

Building Your BPAN Care Team

A comprehensive care team helps you stay ahead of symptoms rather than just reacting to them. The core team will likely include:

  • Neurology & Movement Disorders: Pediatric or adult specialists manage the “big picture,” including epilepsy, motor symptoms like stiffness (parkinsonism) or involuntary twisting (dystonia), and cognitive health [1][3].
  • Medical Genetics: This team interprets the WDR45 test results, provides counseling for the family (including reproductive counseling), and explains inheritance patterns [4].
  • Rehabilitation (Physiatry) & Therapists: Physical (PT), Occupational (OT), and Speech-Language (SLP) therapists work daily to maintain mobility and improve communication access [5][6].
  • Gastroenterology (GI) & Nutrition: These specialists monitor growth, weight gain, constipation, and dysphagia (swallowing difficulty) to ensure proper health and avoid lung infections from food “going down the wrong way” (aspiration) [3].
  • Psychiatry & Behavioral Health: Essential for managing sleep disorders, behavioral outbursts, and providing emotional support across the lifespan [1].

Transition Planning: A key component of the care team’s job is to assist with the transition to adult services. This includes moving to adult neurology, reproductive counseling, supported decision-making, and maintaining communication across all specialists.

Tracking Progress and Changes

Because BPAN can involve a gradual loss of previously gained skills in the second phase, clinicians may use standardized tools to measure abilities at regular intervals [7]. Note that these are optional, helpful general tools selected by your team, rather than validated BPAN-specific “phase detectors.”

  • Vineland-3 (Adaptive Behavior Scales): Uses caregiver interviews to track how a person functions in daily life, specifically in communication, social skills, and motor skills [6][7].
  • GMFM-66 (Gross Motor Function Measure): Focuses specifically on physical movement, like sitting or walking, helping therapists adjust their goals [5][7].
  • Cognitive Testing: Tools like the Leiter-3 (a non-verbal test) can help track cognitive health without relying heavily on speech [5][7].

Surveillance: What to Monitor and When

While your doctor will set an individualized schedule (there is no universal BPAN surveillance timeline), the following areas typically require regular monitoring:

Area of Concern What is Monitored Frequency / Trigger Examples
Seizures Frequency, type, and medication side effects [8]. Periodic neurology visits; EEG based on clinical need [1].
Swallowing Coughing, “wet” voice, or prolonged meals [3]. Immediate SLP referral if symptoms appear. Note: Absence of obvious choking does not exclude silent aspiration; VFSS/FEES should be done when indicated [6].
Growth/Nutrition Weight, height, and signs of chronic constipation [3]. Routine pediatric or GI visits [6].
Movement New stiffness, tremors, or “freezing” of gait [1]. Periodic review by a movement disorder specialist [3].
Vision (Possible) Visual acuity and health of the optic nerve [9]. Baseline exam, then periodically as indicated, as optic nerve thinning has been reported [10].
Puberty (Possible) Signs of early physical development [11]. Monitor during routine exams, as precocious puberty is a reported possible feature [3].
Bone/Dental Scoliosis, contractures, dental hygiene, pain. Routine checkups and specialized rehab management.

By maintaining this multisystem view, you and the medical team can ensure that care is safely and proactively supported through every stage of the BPAN journey. Moving forward with a comprehensive, coordinated plan is the best way to manage this complex condition [1].

Common questions in this guide

Who should coordinate care for someone with BPAN?
Because BPAN affects multiple systems, ask the care team to designate a primary care coordinator. This person can help connect specialists, organize referrals, and keep the care plan and records up to date while each specialist manages their area. The best person for this role depends on the person's symptoms, age, and available services.
Which specialists are usually part of a BPAN care team?
A BPAN team commonly includes a neurologist or movement-disorder specialist, a medical geneticist, rehabilitation therapists, and gastroenterology or nutrition professionals. Speech-language, physical, and occupational therapists may address communication, movement, and swallowing, while behavioral health clinicians can help with sleep and behavior. The exact team depends on the person's symptoms and age.
How often should someone with BPAN have monitoring visits and tests?
There is no single surveillance schedule for BPAN. The care team sets visit and test timing based on age, symptoms, changes in function, and treatment needs; neurology follow-up and EEG are used when clinically indicated. New swallowing, movement, seizure, vision, growth, or puberty concerns should be discussed promptly.
What tools can track changes in skills or daily function with BPAN?
Clinicians may use the Vineland-3 to assess daily communication, social, and motor skills; the GMFM-66 to measure gross movement; and the Leiter-3 to assess thinking without relying heavily on speech. These tools can track change over time, but they are general measures rather than BPAN-specific tests that identify disease phases.
When does BPAN-related swallowing difficulty need an evaluation?
Coughing during meals, a wet-sounding voice, or meals that take much longer than usual should prompt a discussion with a speech-language pathologist or feeding team. A person can have silent aspiration without obvious choking, so the team may recommend a clinical feeding assessment, a videofluoroscopic swallow study (VFSS), or a fiberoptic endoscopic evaluation of swallowing (FEES) when indicated. Eating-safety concerns should be discussed promptly, even when choking is not obvious.
Should BPAN monitoring include eye or hormone checks?
The care team may recommend a baseline eye examination and repeat visits if needed because optic nerve thinning has been reported in BPAN. Routine exams can also monitor for early puberty, but endocrine testing is individualized rather than automatic for everyone. Ask the treating clinicians which baseline assessments fit the person's symptoms and age.
How can families prepare for the transition from pediatric to adult BPAN care?
Start planning before the transfer date, identify an adult neurologist, and make sure medical records and therapy reports can be shared with the new team. Planning may also include reproductive counseling, supported decision-making, and a clear list of medications, therapy needs, communication needs, and emergency instructions. A designated care coordinator can help keep the plan connected across specialists.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.Who should be our primary 'care coordinator' among all these specialists to ensure the care plan is cohesive?
  2. 2.Based on current development, which specific adaptive tracking tools do you recommend we use, if any?
  3. 3.At what point should we schedule a clinical feeding evaluation or VFSS to ensure eating safety, even if we don't see obvious choking?
  4. 4.Are there specific baseline ophthalmology or endocrinology tests we should get now to monitor for reported BPAN features?
  5. 5.What steps should we take now to begin preparing for the transition to adult medical services?

Questions For You

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References

References (11)
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    Consensus clinical management guideline for beta-propeller protein-associated neurodegeneration.

    Wilson JL, Gregory A, Kurian MA, et al.

    Developmental medicine and child neurology 2021; (63(12)):1402-1409 doi:10.1111/dmcn.14980.

    PMID: 34347296
  2. 2

    Quantitative retrospective natural history modeling of WDR45-related developmental and epileptic encephalopathy - a systematic cross-sectional analysis of 160 published cases.

    Saffari A, Schröter J, Garbade SF, et al.

    Autophagy 2022; (18(7)):1715-1727 doi:10.1080/15548627.2021.1990671.

    PMID: 34818117
  3. 3

    Childhood Dystonia-Parkinsonism Following Infantile Spasms-Clinical Clue to Diagnosis in Early Beta-Propeller Protein-Associated Neurodegeneration.

    Hornemann F, Le Duc D, Roth C, et al.

    Neuropediatrics 2020; (51(1)):22-29 doi:10.1055/s-0039-1696688.

    PMID: 31505688
  4. 4

    De novo variants in WDR45 underlie beta-propeller protein-associated neurodegeneration in five independent families.

    Tang X, Lan X, Song X, et al.

    Molecular genetics & genomic medicine 2020; (8(11)):e1499 doi:10.1002/mgg3.1499.

    PMID: 33037762
  5. 5

    Psychometric outcome measures in beta-propeller protein-associated neurodegeneration (BPAN).

    Gavazzi F, Pierce SR, Vithayathil J, et al.

    Molecular genetics and metabolism 2022; (137(1-2)):26-32 doi:10.1016/j.ymgme.2022.07.009.

    PMID: 35878504
  6. 6

    Determination of Health Concepts in β-Propeller Protein-Associated Neurodegeneration.

    Kotes E, Gavazzi F, Woidill S, et al.

    Journal of child neurology 2025; (40(1)):15-25 doi:10.1177/08830738241283932.

    PMID: 39376195
  7. 7

    Functional ability profiles in beta-propeller protein-associated neurodegeneration (BPAN).

    Gavazzi F, Pierce SR, Smith V, et al.

    Molecular genetics and metabolism 2025; (146(3)):109253 doi:10.1016/j.ymgme.2025.109253.

    PMID: 41101291
  8. 8

    A Comprehensive Overview of the Clinical, Electrophysiological, and Neuroimaging Features of BPAN: Insights From a New Case Series.

    Susgun S, Kizek O, Ugur Iseri SA, et al.

    Annals of clinical and translational neurology 2026; (13(3)):453-465 doi:10.1002/acn3.70220.

    PMID: 41097835
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    Expanding the Spectrum of Early Neuroradiologic Findings in β Propeller Protein-Associated Neurodegeneration.

    Papandreou A, Soo AKS, Spaull R, et al.

    AJNR. American journal of neuroradiology 2022; (43(12)):1810-1814 doi:10.3174/ajnr.A7693.

    PMID: 36328404
  10. 10

    Ocular and systemic manifestations of beta-propeller protein-associated neurodegeneration.

    Tiedemann LM, Reed D, Joseph A, Yoo SH

    Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus 2018; (22(5)):403-405 doi:10.1016/j.jaapos.2018.03.013.

    PMID: 30092264
  11. 11

    Early Phenotypic Features of Beta-Propeller Protein-Associated Neurodegeneration: Insights From a Korean Series.

    Kim YS, Kim SY, Lee YJ, et al.

    Journal of movement disorders 2026; (19(2)):187-191 doi:10.14802/jmd.25281.

    PMID: 41367185

This BPAN care-planning and monitoring information is for education only and does not replace medical advice. The neurology team and other specialists should tailor surveillance, testing, and therapies to the person's symptoms and needs.

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