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. 2023 Jul 25;18:211. doi: 10.1186/s13023-023-02811-5

Table 3.

Rates of skeletal and non-skeletal complications by age group among ACH cases (CPRD cohort)

Complications by body system category and age group Specific events by age group*
Category n, ER per 100PY** Specific event n, ER per 100PY**
0–10 years 11–17 years 18–59 years  ≥ 60 years  < 18 years  ≥ 18 years
All non-skeletal 465, 69.50 169, 41.46 1960, 66.50 1018, 118.09
Developmental 29, 4.33  < 5, NC 10, 0.34  < 5, NC Developmental delay 13, 1.21  < 5, NC
Speech delay 12, 1.11 8, 0.21
Motor delay 5, 0.46  < 5, NC
Neurological*** 37, 5.53 15, 3.68 116, 3.94 60, 6.96 Incontinence/neurogenic bladder or bowel 17, 1.58 70, 1.84
Paraplegia/parathesia  < 5, NC 51, 1.34
Seizures/epilepsy  < 5, NC 37, 0.97
Hydrocephalus/ventriculomegaly 31, 2.88 11, 0.29
Dementia  < 5, NC 5, 0.13
Skeletal*** 66, 9.86 23, 5.64 227, 7.70 143, 16.59 Spinal stenosis/cord compression 14, 1.30 124, 3.26
Arthritis/osteoarthritis  < 5, NC  < 100, 2.47
Falls 15, 1.39 90, 2.36
Spinal deformities 46, 4.27 14, 0.37
Osteoporosis/osteopenia/reduced BMD 0 39, 1.02
Leg deformity (including genu varum)  < 15, 1.02  < 5, NC
Craniocervical stenosis  < 5, NC  < 10, 0.13
ENT*** 271, 40.51 42, 10.30 167, 5.67 37, 4.29 Otitis media 254, 23.59 111, 2.91
Hearing loss/deafness 45, 4.18 56, 1.47
Sinusitis 0 25, 0.66
Enlarged tonsils  < 15, 0.93  < 5, 0.08
Voice abnormalities 0 8, 0.21
Respiratory 35, 5.23  < 5, NC 73, 2.48  < 35, NC Sleep disorder 6, 0.56 91, 2.39
Apnoea/sleep disordered breathing 33, 3.07 14, 0.37
Metabolic  < 5, NC  < 10, NC 213, 7.23 103, 11.95 Obesity 10, 0.93 179, 4.70
Diabetes  < 5, NC 94, 2.47
Hyperlipidaemia  < 5, NC 43, 1.13
Mental health  < 5, NC 13, 3.19 254, 8.62 107, 12.41 Depression/anxiety 7, 0.65 294, 7.72
Substance dependence/abuse  < 5, NC 37, 0.97
‘Other’ mental health issues  < 5, NC 22, 0.58
Self-harm/suicidal ideation 5, 0.46  < 5, NC
ADD/ADHD/adjustment disorder  < 5, NC  < 5, NC
Cardiovascular  < 10, NC  < 10, NC 282, 9.57 271, 31.44 Hypertension  < 5, NC 319, 8.37
Chest pain/angina 10, 0.93 184, 4.83
Coronary disease  < 5, NC 36, 0.95
Stroke  < 5, NC 7, 0.18
Myocardial infarction  < 5, NC 7, 0.18
Other 84, 12.56 83, 20.36 861, 29.21 412, 47.79 Pain 96, 8.92 1042, 27.35
Gastrointestinal issues 43, 3.99 165, 4.33
Headache 28, 2.60 47, 1.23
Sexual health/gynaecological issues  < 5, NC 19, 0.50

ACH Achondroplasia; ADD Attention deficit disorder; ADHD Attention deficit hyperactivity disorder; BMD Bone mineral density; CPRD Clinical Practice Research Database; ENT Ear, nose and throat; ER Event rate; n Number of events of interest; NC Not calculated (due to small cell size); PY Person years

*Due to small cell sizes, specific events by age group are presented within broader < 18 or ≥ 18 year age categories

**Where the number of events in a cell was less than 5, this has been stated as < 5 due to CPRD reporting requirements. In some cases, values greater than 5 have been reported as less than (< the next highest multiple of 5) to prevent calculation of exact values elsewhere

***Data on myelopathy, failure to thrive, subdural haemorrhage/haematoma, cauda equinasyndrome, tracheomalacia/bronchomalacia and middle ear dysfunction/disorder have not been reported by age group, since the overall number of events was < 5