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J. Indian Assoc. Child Adolesc. Ment. Health 2011; 7(1):1-3

Special Editorial

Classification and Etiology of Neuro-Developmental Disorders: some

recent trends
Dr. Satish C Girimaji*
*Professor, Department of Child and Adolescent Psychiatry, NIMHANS, Bangalore

Maturation of brain and development of its functions, commonly referred to as

neurodevelopment, is a highly complex, well-orchestrated and fascinating process.
Beginning with neural stem cells, it proceeds through neuronal proliferation by
symmetric cell division followed by asymmetric cell division, and later neuronal
migration, differentiation, organization into neural circuits and networks that take up
more or less specific responsibilities in terms of functions. One could list a number of
such functions – traditionally divided into discrete but overlapping areas viz., cognitive,
social, language and motor. One could discern further sub-categories, for instance,
verbal / non-verbal reception and expression, fine and gross motor development.

Given this complexity, it is not surprising that a variety of things can go wrong in this
process, leading deficits and deviations in development of one or more functions of the
brain which have come to be grouped under the rubric of neurodevelopmental disorders
(NDD) in the recent times. This over-arching term is much more representative of these
conditions than others such as developmental disabilities, disorders of psychological
development (ICD-10) or disorders usually first diagnosed in infancy, childhood and
adolescence (DSM-IV). It is very likely that both DSM and ICD will follow this
approach in their forthcoming revisions.

What are the conditions that are to be included under this construct? Which are those that
need to be excluded? What would be the new names, definitions, and descriptions of
these disorders? These are the issues that makers of ICD-11 and DSM 5 are grappling
with. Already some progress has occurred in this direction – mental retardation is likely
to be named as intellectual developmental disorders [1] General consensus appears to be
that intellectual developmental disorder (IDD), autism spectrum disorders (ASD),
specific disorders of development that comprise specific developmental disorder of
communication/language/speech, specific learning disorders, disorders of motor co-
ordination need to included. A new addition, attention-deficit/hyperactivity disorder
(ADHD) needs to be included based on current evidence. Further, each of these disorders
could be further sub-categorized based on clinical severity, viz., mild, moderate etc.
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There is also the question of overall hierarchical organization of NDD. In a major

departure from ICD-10 or DSM-IV, it is likely that NDD will become the overarching
“parent” category, under which all conditions mentioned above will be included as
separate conditions, on equal footing (“child” categories). This will allow provision for
making multiple NDD diagnoses, for instance IDD with ASD with ADHD, based on
pattern of clinical presentation.

Yet another issue is whether to conceptualize these conditions as primarily disabilities or

as disorders that are associated with varying degrees of disability. Consensus is towards
conceptualizing them as disorders or “health conditions” is more appropriate. Of course,
these conditions are associated with disabilities that could vary with severity of the
condition, context in which the individual is living, available supports, and over time.
One way of capturing this information would be by utilizing International Classification
of Functioning (ICF) developed by WHO. In other words, ICD and ICF can complement
each other to provide comprehensive diagnostic information.

What causes these disorders? Any process or event that adversely affects the orderly
development of brain can lead to neurodevelopmental disorders. It is customary to
classify these causes by the timing of the adverse event or process into prenatal, perinatal,
and postnatal causes. More and more genetic causes and predispositions are being
discovered through technological advances in genetic investigations. New class of
genetic disorders such as copy number variation and sub-telomeric deletions have
emerged. Whole genome sequencing and massively parallel sequending are being applied
more and more to uncover the genetic basis and already started yielding results [2] More
than 100 genetic conditions have been found to be associated with ASD [3]. However, all
these put together account for only 10-20 % of cases of ASD. Seminal work by Rutter
and his colleagues on Romanian adoptees has not only established the crucial role played
by environmental / experiential deprivation as the basis for autism-like disorder (quasi-
autism) and also explored the gene-environment interactions that ultimately determine the
clinical picture [4, 5].

There is no doubt in my mind that these new ways of looking at existing problems will
bring about favorable changes in our perceptions and practices, ultimately benefiting
individuals with NDD’s, their families and carers.
References

1. Salvador-Carulla L et al. Intellectual developmental disorders: towards a new

name, definition and framework for “mental retardation / intellectual disability” in
ICD-11. World Psychiatry 2011; 10 (3): 175-180.
2. Mefford HC, Batshaw ML, Hoffman EP. Genomics, intellectual disability, and
autism. N Engl J Med 2012; 366:733-743.
3. Betancur C. Etiological heterogeneity in autism spectrum disorders: More than
100 genetic and genomic disorders and still counting. Brain Res 2011; 1380: 42–
77.
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4. Rutter M, Sonuga-Barke EJ. Conclusions: overview of findings from the ERA

study, inferences, and research implications. Monogr Soc Res Child Dev. 2010;
75:1-20
5. Kumsta R et al. 5HTT genotype moderates the influence of early institutional
deprivation on emotional problems in adolescence: evidence from the English and
Romanian Adoptee (ERA) study. J Child Psychol Psychiatry. 2010; 51: 755-62.