Inclusion of | Start | Minimal frequency | |
---|---|---|---|
Physical examination | ▸ Respiratory parameters ▸ Anthropometrics measurements (thoracic perimeter, standing and sitting height, weight, limbs segments) ▸ Neuromuscular evaluation (muscular testing) ▸ Arterial blood pressure ▸ Abdominal examination ▸ Back static examination | At diagnosis | ▸ Every year until 15 year ▸ Then on indication |
Pulmonary function testing | ▸ Polygraphic sleep study ▸ Spirometry and volumes measurements | ▸ 6 months ▸ 5 years | ▸ Systematic, per 1 or 2 years ▸ If pulmonary involvement, per 2 year |
Renal tests | ▸ Urinary and blood tests (tubular and glomerular evaluation) ▸ Abdominal ultrasound | At diagnosis | ▸ Per year until 15 year ▸ Then less frequently but at least per 3 years |
Liver evaluation | ▸ Liver function ▸ Abdominal ultrasound | At diagnosis | ▸ Per year until 15 year ▸ Then less frequently but at least per 3 years |
Pancreatic function | ▸ Pancreatic function ▸ Abdominal ultrasound | At diagnosis | |
Eyes evaluation | ▸ Electroretinogram | 5 Years | ▸ Every 2–3 years |
Orthopaedics | ▸ Cervical spine MRI ▸ Spine and hips x-rays | ▸ 6 months or at diagnosis ▸ 8–10 years | ▸ Systematic then on indication ▸ On clinical indication |
Others | ▸ Genetic counselling and molecular analysis ▸ Psychological support | ▸ At diagnosis ▸ After diagnosis | Regularly |
ATD, Asphyxiating Thoracic Dysplasia.