Diagnosing ChILD

When chILD is suspected, usually your child will be referred to your nearest children’s specialist hospital. This is because they will have the experience to evaluate and manage chILD. Unfortunately, ChILD Symptoms are non-specific. This means that there may be other conditions that may be the cause of your child’s illness that present similar to chILD and healthcare professionals have to rule these other conditions out. This can be a long and frustrating experience. Please find just some of these conditions:

  • Congenital Heart Disease
  • Bronchial Asthma
  • Cystic Fibrosis
  • Immunodeficiences
  • Primary Ciliary Dyskinesia
  • Failure to thrive

According to chILD EU, there is a list of investigations that could be undertaken. Some of these are essential to diagnosis yet, some may not be required. Please check out ChILD EU’s Living with chILD (UK-Version) or ‘Get up and Go with chILD’ (UK version) for more information. If your child is going through diagnosis phase, please discuss these with your child’s healthcare professional.

Once you have been referred, the first component in diagnosis is for the healthcare team to take a detailed history for your child’s illness. You will be asked about symptoms, when they started, if any other investigations have been performed, past or current treatments and also if you child had had any hospital admissions. This is a very important process so it may be useful for you to create a list or a diary of events.

This is a non-invasive, non-painful method of measuring blood oxygen levels. A skin probe (pulse oximeter) is attached to your child’s finger, ear lobe or toe. It shows both oxygen saturations and heart rate. These measurements can be taken as a ‘spot check’ with a small portable machine, or some larger monitors can take readings over longer periods such as a period of 12/24/48 hours.

This may occur during the first evaluation stages. This helps healthcare professionals build up a profile of your child’s health. Apart from the genetic testing (See Genetic Testing below), these tests do not confirm chILD. If you are unsure of why your child is undertaking a blood test, always ask your child’s healthcare professional to explain.

This test measures the partial pressures of oxygen and carbon dioxide in the blood. This test is very rarely used.

This will help doctors look at aspects such as your child’s organs (lungs and heart) and blood vessels. Also, sometimes x-rays can show large lung changes that can support a chILD diagnosis. Please note: ChILD is never usually diagnosed from an x-ray.

This is a very important component in diagnosing chILD. A CT scan provides a more detailed image of the lungs, heart and blood vessels than an x ray image. The disadvantages of CT scans are the high radiation dose and also it requires your child to be very still and breathing at a constant rate. Sometimes children require a general anaesthetic to obtain good image results.

This is a technical test that is usually given to children over the age of 5. The test requires the child to inhale and exhale in stages as it shows how much air is taken into the lungs, how much air can be blown out of the child’s lungs and how fast, strength of the breathing muscles and also how well oxygen is delivered into the blood. These results are also compared against a ‘normal range’ i.e. to other similar children’s age, weight and height. Please note: any values are not an indication of chILD diagnosis. This method acts as a support to other investigations.

it is only rather recently that genetic testing can be performed for suspected chILD. These are blood tests that can provide a clear and precise diagnosis without the need of a lung biopsy (when positive). Unfortunately, only a few types of chILD can be diagnosed with this method:

  • Surfactant-Protein-B Deficiency (SPB-Mutations)
  • Surfactant-Protein-C Deficiency (SPC-Mutations)
  • ABCA3-Deficiency (ABCA3-Mutations)
  • Alveolar Capillary Dysplasia (FoxF1-Mutations)
  • Brain Lung Thyroid Syndrome (TTF1-Mutations)
  • Congenital Pulmonary Alveolar Proteinosis (CSFR2A, CSFR2B-Mutations)

This is a procedure that allows healthcare professionals look directly inside the lung. This is done by inserting a thin viewing cable to allow investigators to view the child’s airways. The airways are examined for malformation, weakness, secretions and also inflammation. A bronchoalveolar lavage (BAL) can also be taken; this is where normal saline solution is flushed into a lung lobe and then sucked out again to be sent away for further investigation (e.g. possible bacteria or inflammation cells). Sometimes it can be performed in rare surfactant cases.

The lung biopsy is considered the ‘gold standard’ in diagnosing chIL if after all other conditions have been ruled out and previous investigations have not provided a diagnosis. Biopsies are usually performed as a VATS (video assisted thoracoscopic surgery) under anaesthetic where instruments are inserted into the chest cavity via three small incisions. Through these incisions, the surgeon can look directly into the lung and take small biopsy samples. A rare alternative to VATS is an open lung biopsy, where a larger skin incision is made to take the samples.

Children and young persons who receive this procedure will require anaesthesia, and also possibly supplementary oxygen or even ventilation. The child is constantly monitored during the procedure and severe complications are very rare.