Not only what investigations? When, why, at what cost, whose choice?
Editor - Regarding the recent publication in Clinical Medicine by Vasudevan and Suri,1 I was pleased to see the subject but very disappointed in this article. As a member of the Royal College of Physicians and Royal College of Paediatrics and Child Health, I felt very saddened that neither a paediatrician nor a service user contributed to this article. There is imprecision in the definition of terms, leaving out important criteria such as how delayed is 'significant' in global developmental delay (GDD); it is usually defined as >2 standard deviations below the mean.2–4 In addition, GDD is referred to as if it is just intellectual disability (ID) in young children – except where DD is severe, the development of future intellectual disability is uncertain. The World Health Organization's definition of mental retardation and the Department of Health (DH) definition of learning disability are clearer: they include mention of IQ (<70) and degrees of disability that also relate to the likelihood of finding a cause. The DH definition of learning disability is misquoted (by partial omission) and the reference to it leaves out the important distinction therein between general and specific learning disabilities (eg dyslexia).6 There is little reference to the evidence base informing practice or to patients’ views.
No mention is made of the ethical and practical considerations of testing and of obtaining valid consent, nor of the considerable variation in guidance and practice in investigations for GDD and ID. These issues are mentioned for future developments such as whole-genome sequencing but are very relevant for current investigations.
Considerable distress can be caused by blood tests, waiting for results and the frequent occurrence of copy number variations of uncertain significance.8 In my experience, parents’ wishes vary: many want to investigate their child's disability exhaustively and immediately, most do not, and some want no investigations unless likely to have a significant impact on treatment such as thyroid function.
Microarray has not been routinely available for 2 decades – at least not from the Guy's and St Thomas’ genetic department in London and I guess not many other places either. The recommendation of magnetic resonance spectroscopy as routine seems unjustified – there is evidence of little additional diagnostic yield. If properly audited, part of research projects would be more appropriate.
I do recognise that better investigations do identify a cause more commonly, and rarely but increasingly identify treatable conditions. Nonetheless, even a specific diagnosis most often does not help the individual very much if at all. The comment that a specific diagnosis enables access to special education and social care is sometimes true but is against the spirit and text of the relevant law, which for children at least has been based on identification of needs not diagnosis since the Education Act 1981, and the Children Act 1989.
Participation is key in working long term with patients and their families with significant learning difficulties. For children, parents usually give consent for their child. They may have very different priorities and concerns to the clinician. Respectful explanation of options, uncertainties, costs and benefits of investigations is vital for valid consent. This remains an art7 and does not fit well with a mandatory list of investigations all at once for all.
Adults with ID may not be competent to give valid consent. Surely this should at least be mentioned, and references given to how to address this, both respecting the autonomy of the individual and not neglecting their health needs.
There are, coincidentally, far better recent articles, and discussions of the pros and cons of aetiological investigations for GDD and ID – see references 2–5 below, which of course do not totally agree with one another.
- © Royal College of Physicians 2018. All rights reserved.
References
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- Vasudevan P
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- Shapiro K
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- Mithyantha R
- Hart AR
- ↵Department of Health. Valuing people: a new strategy for learning difficulties for the 21st century. London, DoH 2001.
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- Seal AK
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- Johannessen J
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