A ’global’ approach to global developmental delay and intellectual disability?

Burgeoning international trade, modern telecommunications, media saturation, ubiquitous information technology, and facilitated international travel have all contributed to creating a ‘global village’. However, local particularities of history, culture, and economics ensures that we do not all inhabit the same metaphorical neighbourhood in this village. The spheres of health, medical knowledge, and service delivery are not exempt from these general observations. These points are illustrated pragmatically in the paper by Jauhari et al.1 From the context of ambulatory pediatric clinics in Luknow, Uttar Pradesh, situated on the vast and densely populated Ganges plain of Northern India, the etiological yield and profile of a consecutive series of children with intellectual disability or global developmental delay is described. Despite a relative lack of available diagnostic resources, especially pertaining to genetic technologies (and not as readily evident with respect to imaging modalities), a percentage etiological yield corresponding to roughly half was obtained by the investigators, which is not dissimilar to that reported in European and North American populations.2, 3 Similarly to these Western studies, clinical features (e.g. microcephaly, coexisting epilepsy, abnormal motor signs, adverse neonatal events) evident on history and physical examination and suggestive of an underlying etiology were found. Furthermore, etiological yield was noted to be independent of the documented severity of developmental delay or intellectual disability, thus reinforcing the point that all children with an intellectual disability or global developmental delay merit a stringent diagnostic evaluation that asks the important question: Why this child? Not surprisingly, what is situationally specific are both the profile of children evaluated with intellectual disability or global developmental delay and the profile of etiologies documented. A striking 70% of the children in this series are male. This observation is attributed by the authors to a social-cultural bias amongst the local population towards seeking health services for their male offspring in preference to females. Rather than a proponderance of prenatal (presumably genetic in origin) etiologies as documented in contemporary western series, roughly 85% of the etiologies identified were perinatal (exclusively asphyxia or infection) or postnatal (exclusively infection) in origin. Indeed, perinatal and post-natal causes account for roughly 40% of all cases of intellectual disability or global developmental delay evaluated in this series. These local particularities have significant implications. Male preponderance suggests that despite organizational, constitutional, and legal commitments to sex equality, this remains unrealized. Addressing such an intrinsic social-cultural bias will be difficult and will likely be ultimately dependant on first enhancing and realizing local economic opportunities for females. The precise etiological spectrum documented offers considerable opportunities for prevention. While in all societies ‘an ounce of prevention is worth a pound of cure’, this is particularly true and relevant in resource-poor settings with relatively limited available funds that can be directed to medical, rehabilitation, educational, and societal supports across the lifespan. Improved access to obstetric and neonatal care, together with routine pediatric immunizations against bacterial pathogens (i.e. pneumococcus, meningococcus, hemophilus influenza) on a population-wide basis presents clear points for prevention in resource-poor populations. Another strategy for prevention is offered by implementation of newborn screening protocols for congenital hypothyroidism and metabolic disorders. Indeed, two children in the Jauhari et al. series had congenital hypothyroidism, a diagnosis now absent from contemporary Western series of intellectual disability and global developmental delay. In a setting of 16% parental consanguinity, neonatal metabolic screening offers obvious early diagnostic and outcome advantages. Thus, the paper by Jauhari et al. reminds us how similar and dissimilar the human experience can be concurrently. While a general diagnostic approach can be formulated, algorithms and guidelines must be locally adaptable to face particular local issues and challenges.4, 5 It also provides us with the objective evidence necessary to continue to address inequities in health service provision that directly impact on individual and community health and well-being around the world.

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