This is an example form to illustrate the dataset; neither the structure
nor the wording is binding. Important features such as validation and
plausibility checks are not implemented. This example is mainly intended as
a baseline form; a follow-up form may need modifications to incorporate
previously collected data.
Demographics
Affected family members (example 1)
This variant of the form is recommended because it allows capturing the
sex of the intermediate family member while staying concise, and it allows
expressing if more than one family member with the same relation (e.g. two
sisters) are affected.
Affected family members (example 2)
This variant of the form is possible, but not recommended because it
requires a long list of options in order to capture the sex of the
intermediate family member. Not all options are shown here.
Clinical observations
Your first symptoms
Your SMA type
Body measurements
infants age ≤ 24 months
Contractures
Do you have contractures in the following areas?
People with SMA are often affected by joint contractures, which can be
described as limitations in the full range of motion of certain joints.
Contractures are caused by immobility, reduced weight bearing, and muscle
imbalance.
Additional items for clinicians
only baselineonly follow-up
Scoliosis
Scoliosis
Motor function
Motor function
Example form for patient-reported registries
Hold head without support
Roll onto side
Sit without support
Crawl
Stand with assistance
Stand without assistance
Walk with assistance
Walk without assistance
Walk 10 metres without assistance
Climb stairs
Useful function of hands
Reach overhead in a sitting position
Raise hands to mouth in a sitting position
Example form for clinician-reported registries
Hold head without support
Roll onto side
Sit without support
Crawl
Stand with assistance
Stand without assistance
Walk with assistance
Walk without assistance
Walk 10 metres without assistance
Climb stairs
Useful function of hands
Reach overhead in a sitting position
Raise hands to mouth in a sitting position
Wheelchair usage
Wheelchair use
Nutrition
Nutrition (example 1)
This variant is suitable for cases in which one can assume that the user
knows both about previous as well as current usage, e.g. when asking the
individual directly.
People with SMA sometimes have difficulty eating and swallowing food by
mouth (orally) and therefore have to be fed through a feeding tube. A
gastric feeding tube (also called a G-tube or a PEG) is one that goes
directly into the stomach via a surgical procedure. A nasal feeding tube
(also called nasogastric tube) is one that goes through the nose and down
into the stomach.
Nutrition (example 2)
This variant is suitable for cases in which the user may know about the
previous status but not the current or vice versa, for instance when a
clinician is entering the data based on a patient record.
The form would now continue as in example 1 from the item 'When did you
first start using a feeding tube?' on.
Pulmonary function
Pulmonary function
Ventilation means breathing support from a mechanical ventilation device
in the form of either non-invasive ventilation via a face
or nose mask, or invasive ventilation via a tracheostomy
(an operation to make an incision in the wind-pipe) or endotracheal tube
(a breathing tube is inserted into the wind-pipe). Ventilatory support can
be used all day or for just a few hours.