Table 1. Assessment of Bone Health.
| Statements | Level of Evidence* | Median Response | n/N (%)1 |
|---|---|---|---|
| All children with a clinical diagnosis of RTT should undergo genetic testing as genotype may influence the development and management of osteoporosis | 2 | Neither Agree or Disagree | 29/31 (93.5) |
| Fractures in RTT can occur due to trivial trauma | 2 | Agree | 35/35 (100) |
| Clinicians need to be vigilant for potential fractures | 2 | Strongly Agree | 35/35 (100) |
| Measure weight and height to calculate Body Mass Index at each clinical visit | 4 | Strongly Agree | 27/35 (77.1) |
| Identify all prescribed medications at each clinical visit, particularly those that can influence bone density: eg anti-epileptic medications, proton pump inhibitors, progesterone-only medications, vitamin supplements | 2 | Strongly Agree | 36/36 (100) |
| Assess pubertal development using Tanner staging | 2 | Agree | 32/32 (100) |
| Pubertal development may be delayed in girls or women with RTT which puts those affected at risk of low bone mineral density | 2 | Agree | 23/29 (79.3) |
| Assess mobility level by asking about the following: | |||
| The level of assistance needed for walking | 2 | Strongly Agree | 34/35 (97.1) |
| The time spent walking each day | 2 | Agree | 35/35 (100) |
| The distance walked each day | 2 | Agree | 34/35 (97.1) |
| The amount of time standing in a standing frame if independent standing is not possible | 2 | Strongly Agree | 33/35 (94.3) |
| Assess dietary intake including: | |||
| 24 hour diet recall | 2 | Agree | 31/33 (93.9) |
| Recall of food high in vitamin D | 2 | Agree | 28/33 (84.8) |
| Recall of food high in calcium | 2 | Agree | 33/33 (100) |
| Assessment of sunlight exposure by asking about | |||
| Frequency of use of sunscreen and sun-protection factor/protective clothing | 1,2 | Agree | 30/34 (88.2) |
| The time of the day when skin (equivalent to face and arms) is exposed to direct sunlight | 1,2 | Agree | 31/34 (91.2) |
| Amount of time each day that skin (equivalent to face and arms) is exposed to direct sunlight | 1,2 | Agree | 29/34 (85.3) |
| First line biochemical investigations include measurement of: | |||
| Calcium (ideally also ionised calcium) | 1,3 | Agree | 30/33 (90.9) |
| 25 hydroxyvitamin D (25(OH)D) | 1,3 | Strongly Agree | 32/33 (97.0) |
| Magnesium | 1,3 | Agree | 30/33 (90.9) |
| Phosphorus | 1,3 | Agree | 32/33 (97.0) |
| Alkaline Phosphatase (ALP) | 1,3 | Agree | 28/32 (87.5) |
| Albumin | 1,3 | Agree | 30/33 (90.7) |
| Second line biochemical investigations include measurement of: | |||
| Electrolytes (ideally also ionised calcium) | 4 | Agree | 25/27 (92.6) |
| Urine calcium/creatinine ratio (ideally also ionised calcium) | 4 | Agree | 25/27 (92.6) |
| Bone turnover markers: N-telopeptide, collagen cross-links | 4 | Agree | 24/27 (88.9) |
| Parathyroid hormone (PTH) if any pathological findings | 4 | Agree | 29/33 (87.9) |
*Scottish Intercollegiate Guidelines network
1Numerator is the number of responses with median response or 1 category either side and denominator is the number of clinicians in the panel whose expertise were relevant to this item