Period in which the first symptoms manifested, as reported by the individual or their family. Any symptoms which were not considered abnormal at the time, but can retrospectively be attributed to the disease, should be considered as well. If the value is Asymptomatic, this item must be collected at each update until the individual shows first symptoms. If the value is not Asymptomatic, the datestamp is irrelevant and therefore not required.
This item refers to symptoms of SMA. If the value is Postnatal, the date must be specified in Symptom onset date, if known.
| Item type: | single selection |
| Consistency rules: | If values for both this item and |
| Related items in previous version: | 5.00 |
| Usage in other datasets: | DMDLGMD |
| Value ID | Description |
|---|---|
| Prenatal | Prenatal |
| At birth | At birth or up to two weeks of age |
| Postnatal | Postnatal (two weeks of age or older) |
| Asymptomatic | Asymptomatic |
In version 2.0, the following changes were made:
At birth includes up to two weeks of age.Asymptomatic was added.In version 2.1, it was clarified that this item refers to symptoms reported by the individual or their family and that any symptoms which were not considered abnormal at the time, but can retrospectively be attributed to the disease, should be considered as well.
Date of the onset of the first symptoms as defined in the item Symptom onset. Registries may ask for the onset age in their data collection form and calculate the date from the date of birth.
This value must be collected only if Symptom onset is Postnatal.
| Item type: | date |
| Related items in previous version: | 5.00 |
| Usage in other datasets: | DMDLGMD |
Spinal Muscular Atrophy type as clinical diagnosis given by clinician in charge of the individual’s care. In patient-reported registries this item should be verified by the Curator.
| SMA type | Usual age of symptoms onset |
|---|---|
| Type 0 | Before birth |
| Type 1 | Between birth and 6 months |
| Type 2 | 7 months – 18 months |
| Type 3a | 18 months – 36 months |
| Type 3b | 3 years – 18 years |
| Type 4 | Over 18 years |
Type 1-4 definitions taken from the SMA Family Guide.
| Item type: | single selection |
| Related items in previous version: | 5.01 |
| Value ID | Description |
|---|---|
| 0 | 0 |
| 1 | 1 |
| 2 | 2 |
| 3a | 3a |
| 3b | 3b |
| 3 | 3 (subtype not known or not determined) |
| 4 | 4 |
| Undetermined | 5q SMA of undetermined type |
In version 2.0, the values 3a, 3b and Undetermined were added.
CGI-S (Clinician Global Impression of Severity): Clinician’s rating of this individual's current severity of illness; based on the clinician’s total clinical experience with people with SMA.
This item should be captured once per individual; after that, the Clinician Global Impression of Improvement (CGI-I) should be captured at each update. Even though there will, therefore, usually be only one value of this item for each individual, it is marked as longitudinal instead of datestamped to account for registries who choose to collect the value more than once for an individual.
| Item type: | single selection |
| Related items in previous version: | 15.00, 15.01 |
| Value ID | Description |
|---|---|
| 1 | Not at all affected |
| 2 | Borderline affected |
| 3 | Mildly affected |
| 4 | Moderately affected |
| 5 | Markedly affected |
| 6 | Severely affected |
| 7 | Among the most extremely affected individuals |
In version 2.0, the wording of the value descriptions was adapted.
Clinician Global Impression of Improvement (CGI-I) according to clinician: How does the clinician feel that the individual’s condition has changed in the last 6 months?
This item should only be captured from clinicians at follow-up (the item Clinician Global Impression of Severity is used at baseline). It enables a comparison between the individual’s impression of their disease progression (item Patient Global Impression of Improvement) and the impression of their clinician.
| Item type: | single selection |
| Related items in previous version: | 15.04, 15.05 |
| Value ID | Description |
|---|---|
| 1 | Very much improved |
| 2 | Much improved |
| 3 | Minimally improved |
| 4 | No change |
| 5 | Minimally worse |
| 6 | Much worse |
| 7 | Very much worse |
Height or length of the individual, as directly measured or calculated using the method specified in Height measurement method.
| Item type: | decimal |
| Unit: | centimetres |
| Related items in previous version: | 5.02 |
| Usage in other datasets: | DMD |
Method used to obtain the value of Height.
Please note: Standing and Recumbent methods will not give accurate results where contractures and/or significant scoliosis exist. Arm span method will not give accurate results where arm contractures exist. In these cases, the Ulnar length method should be used.
| Item type: | single selection |
| Related items in previous version: | 5.03 |
| Usage in other datasets: | DMD |
| Value ID | Description |
|---|---|
| Standing height | Standing height |
| Recumbent length | Recumbent length |
| Arm span | Arm span |
| Ulnar length | Ulnar length |
Weight of the individual.
| Item type: | decimal |
| Unit: | kilograms |
| Related items in previous version: | 5.04 |
| Usage in other datasets: | DMD |
This item is only relevant for infants up the age of 24 months. This measurement should be taken with a device that cannot be stretched. Wrap the tape snugly around the widest possible circumference - from the most prominent part of the forehead (often 1-2 fingers above the eyebrow) around to the widest part of the back of the head. Try to find the widest way around the head.
| Item type: | decimal |
| Unit: | centimetres |
| Related items in previous version: | 5.05 |