DATACC BY DIME PROJECT

Defining core digital measures for
Pediatric rare disease research & care

The core digital measures of pediatric rare diseases

This conceptual model maps the health domains most affected by rare conditions. From movement and communication to cognition, sleep, and daily functioning, each has been added to this framework to help you gather precise, relevant, and patient-centered measurement.

Built over nine months by 70+ experts and backed by 200+ sources, this model synthesizes clinical science, patient advocacy, and regulatory expertise collected through meetings, surveys and focus groups.

Download Conceptual Model (pdf)

CONCEPTUAL MODEL PREVIEW

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Pediatric rare diseases span a wide range of symptoms and functional impacts, so no single set of measures works for every child. The conceptual model lays out the complete landscape, and you can use our customization tool to quickly pinpoint the digital measures that matter most for your specific case.

Descriptions of all measures

Organized by functional area

Activity, mobility & motor function

Ambulation volume: Measures how steady a child is when sitting, standing or walking, how well they can hold their head up, control their trunk, or stay upright without falling.
Contextual ADL-like events: Measures how well a child performs daily tasks (ADL = activities of daily living), such as feeding.
Feeding performance & independence: Assesses how well a child can eat and drink on their own, looking at their ability to swallow, use utensils, and feed themselves without spilling.
Gait: Analyzes the quality and pattern of a child’s walk such as how long their steps are, how fast they move, and how smooth or symmetrical their movement is.
Postural mobility: Evaluates how easily and frequently a child can change body positions, such as standing up from a chair, sitting down, or climbing stairs.
Stability & balance: Measures how steady a child is when sitting, standing or walking; how well they can hold their head up, control their trunk, or stay upright without falling.
Upper limb functional performance: Analyzes the general movement ability of the arms and hands, such as reaching distance, speed, and range of motion, regardless of the specific task being performed.

Sleep, seizures & acute medical events

Clinical seizure/acute medical event event burden: Records the overall impact of seizures or medical episodes by tracking how often they happen, whether they occur at night, and their severity using digital diaries.
Core measures of sleep: Uses sensors-based digital health technologies to objectively track sleep quality, including how long a child sleeps, when they wake up, and how often their sleep is interrupted.
Passive sensor signals (during seizures and acute medical events): Uses sensor-based digital health technologies to automatically detect physiological changes like heart rate spikes or shaking movements happening during a seizure or medical emergency.

Thinking, behavior & communication

Age-appropriate cognitive test battery: Uses game-like tasks on a tablet or phone to test thinking skills suited for the child’s age, such as memory, attention span, and processing speed.
Intelligibility: Evaluates how clearly a child speaks, capturing how easily they are understood when speech is affected by muscle weakness, motor coordination issues, or developmental delays.
Spontaneous language performance: Captures a child’s natural speech in their everyday environment, tracking things like how often they vocalize, how fast they speak, or the variety of words they use.

Patient & caregiver perspective dataset

DiMe’s Core Digital Measures are grounded in evidence from a systematic qualitative review of pediatric rare disease literature sources.

We extracted, coded, and organized patient and caregiver quotations into thematic domains that informed the conceptual model. This dataset can support further patient-centric research and tool development with a rich set of patient and caregiver quotes.

Download Dataset (xlxs)

123 Sources

281 Unique codes

1,335 Patient & caregiver quotes

73 Conditions

25 Therapeutic areas

EXAMPLE QUOTES FROM THE DATASET

“My two biggest frustrations are losing the ability to reach for heavier things with my arms and not being able to climb the couple of stairs, which frequently prevent me from entering someone’s home or getting on a bus. If I had to choose one activity that I wish I could do it is to stand up by myself. Although, I can still get out of some chairs, most couches and chairs are too low for me to get out of by myself.”

– 14-year-old patient living with Limb-girdle muscular dystrophy type 2C (LGMD2C)

“The symptoms that have negatively affected Siena the most are her deteriorating balance and declining energy levels. She needs guidance when walking to the restroom at night to prevent her from falling. Her lack of stability is causing her to trip more and more. She can no longer ride her bike she got for her 7th birthday. She loves to swim in our pool but now she spends more time hanging on the side because she loses her energy so quickly.”

– Parent of a child with Friedreich’s Ataxia (FA)

“She can’t say if she is too hot or too cold – we have to predict and adjust on her behalf. We might have to abandon a day out at the park if she becomes paralysed or dystonic and we need to seek a safe “refuge”, which provides low stimulation, a steady temperature and no bright lights to allow her body to recover, often with additional medications to stop the symptoms from spreading.”

– Parent of a child with Alternating Hemiplegia of Childhood (AHC)

“His speech is still well behind what’s considered typical for a four-year-old. The other day, he told me “I no like rain,” and it was the longest sentence he’d ever said. Most often we get two-word requests like want pretzels or no jacket.”

– Parent of a child with Fragile X Syndrome (FXS)

“The top thing that concerns us is vomiting, because if she’s vomiting and we can’t keep her formula down then we know she’s not getting the right nutrients and calories that she needs.”

– Parent of a child with Propionic Acidemia (PA)

“My son is completely dependent on myself and a handful of trusted others. Every single aspect of his day-to-day existence, even the simplest task, requires attention, supervision, and assistance. Every need that he has as a human being cannot be met without my help.”

– Parent of a child with Pelizaeus-Merzbacher Disease (PMD)

“The behavior affects everyone in the whole family. We’re always walking on eggshells every day. There’s no rest unless she’s sleeping. We can’t do even simple things like going out to the movies due to her behavior and her outbursts. Her behavior affects how we all must live. I can’t have nice things because everything gets broken.”

– Parent of a child with SYNGAP 1

Next steps

Try our digital measure customization tool to quickly pinpoint the digital measures that matter most for your specific case.

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