Diagnosis in the infant years

Getting a Diagnosis

Introduction: Diagnosis before birth / Diagnosis at birth or soon after / Diagnosis in the infant years / Teenage or adult-onset diagnosis / Undiagnosed conditions

Diagnosis in the infant years

The diagnosis of rare disorders can be particularly difficult in infancy. The symptoms of many disorders may not be apparent in the neonatal period. Some are slowly progressive conditions and clues may start to appear gradually, only when the baby develops more slowly than others. But as there is always a range of rates at which all children progress, it may be difficult to distinguish situations that do need further investigation. Crawling or rolling over later than other babies is not in itself a reason for concern. If you are concerned, talk this over with your doctor or Plunket nurse. Discussion about your baby's progress is likely to result in a clearer assessment of whether more investigation is warranted.

Be aware that if you start to have concerns about your baby's progress, there will be a natural tendency for others to be reassuring that all seems OK. Unless there are clear indicators, the chances are probably 50/50 that either you or they are right. This can lead at times to feelings you are not being taken seriously. If this occurs, try finding someone who can help you plan your approach to your health professional, and support you in expressing your concerns.

In the past much diagnosis relied on observation of development over time. Now there are many more specific tests available, so referral for assessment by a Paediatrician should tend to happen sooner than it previously did, if there is some doubt.

Where there is an agreed concern that your baby may be "failing to thrive" or if there are other indicators that something is not quite right, you are most likely to be referred to a specialist Paediatrician at the public hospital. The Paediatrician will do a detailed assessment and will have access to a variety of tests and other specialists in areas like Orthopaedics, Neurology, Cardiology, Audiology, etc. In their role as care co-ordinator the Paediatrician can also involve other services such as the Genetics Service for specialist diagnostic tests, or refer if appropriate to the specialist Metabolic Service for further advice and specialised testing. In some cases samples of blood, urine or tissue will be sent to laboratories here in New Zealand or overseas, to do further testing for particular disorders.

When a diagnosis is established there should be clear information provided about the professionals who will provide ongoing treatment and care, and where several are likely to be involved, one of them should take the role of key worker to co-ordinate the health and disability needs of your child.


Retrieved: 1 September 2008 12:00am
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