Elsevier

Research in Developmental Disabilities

Volume 31, Issue 6, November–December 2010, Pages 1543-1551
Research in Developmental Disabilities

The ESSENCE in child psychiatry: Early Symptomatic Syndromes Eliciting Neurodevelopmental Clinical Examinations

https://doi.org/10.1016/j.ridd.2010.06.002Get rights and content

Abstract

Co-existence of disorders – including attention-deficit/hyperactivity disorder, oppositional defiant disorder, tic disorder, developmental coordination disorder, and autism spectrum disorder – and sharing of symptoms across disorders (sometimes referred to as comorbidity) is the rule rather than the exception in child psychiatry and developmental medicine. The acronym ESSENCE refers to Early Symptomatic Syndromes Eliciting Neurodevelopmental Clinical Examinations. It is a term I have coined to refer to the reality of children (and their parents) presenting in clinical settings with impairing child symptoms before age 3 (−5) years in the fields of (a) general development, (b) communication and language, (c) social inter-relatedness, (d) motor coordination, (e) attention, (f) activity, (g) behaviour, (h) mood, and/or (i) sleep. Children with major difficulties in one or more (usually several) of these fields, will be referred to and seen by health visitors, nurses, social workers, education specialists, pediatricians, GPs, speech and language therapists, child neurologists, child psychiatrists, psychologists, neurophysiologists, dentists, clinical geneticists, occupational therapists and physiotherapists, but, usually they will be seen only by one of these specialists, when they would have needed the input of two or more of the experts referred to. Major problems in at least one ESSENCE domain before age 5 years often signals major problems in the same or overlapping domains years later. There is no time to wait; something needs to be done, and that something is unlikely to be just in the area of speech and language, just in the area of autism or just in special education.

Introduction

While in the past, child psychiatry had little interest in operationalised diagnosis, recent trends have made categorical diagnosis an integral part of everyday clinical and research practice (Sonuga-Barke, 2009). So focused are we now on the dichotomous distinction between disorder and not disorder that clinics become more and more specialised and cater to the needs of children with “autism only”, “attention-deficit/hyperactivity disorder/ADHD only” or “Tourette syndrome only”. This has led to a situation in which the diffuseness of disorder has come to be underestimated.

At the same time, rather belatedly, there is a growing realisation that co-existence of disorders and sharing of symptoms across disorders (so called comorbidity, a misnomer if ever there was one) is the rule rather than the exception (e.g. Kadesjö & Gillberg, 2001). I pointed this out more than a quarter of a century ago (Gillberg, 1983), but, in clinical practice, this insight has not led to new approaches to addressing the needs of children and families with “complex needs”. Instead, diversification has boomed.

There are legislational, scientific, and clinical attempts to separate out children with autism spectrum disorders (ASD) from those who do not have ASD, all aiming to provide better societal guidelines, more focused attempts at finding the causes, and autism-specific services. Children with ADHD are targeted in similar ways, even though legislation has yet to catch up with them. The same holds for children with language impairments (often erroneously referred to as “specific” language impairment (SLI); erroneous because the impairments are almost never specific), visual impairments and hearing deficits (children who may, or may not, have additional impairments as regards general cognition, motor performance, ASD or ADHD).

There is good evidence that ASD and ADHD can be separate and recognisable “disorders”, but, equally, there is mounting evidence that they often overlap, constitute amalgams of problems, and that in some families they separate together and probably represent different aspects of the same underlying disorder (Reiersen, Constantino, Volk, & Todd, 2007).

With growing insight that early onset childhood problems, such as those reflected in children who are diagnosed in early childhood as suffering from ASD or ADHD, have long-term, indeed probably often, lifetime consequences (Billstedt et al., 2005, Cederlund et al., 2010, Rasmussen and Gillberg, 2000), the incentive to screen and diagnose these conditions has become a main priority for clinicians and administrators hoping to alter the often negative course inherent in cases who have had little or no intervention (or indeed an exclusionary attitude on the part of those “responsible”) during the course of growing up. The question to be addressed is: would making discrete diagnosis (of, say, ASD or ADHD) before age 5 years contribute to a better understanding, better intervention, and more positive outcome in children who present with problems that potentially could be indices of these disorders.

Section snippets

What is ESSENCE?

The acronym ESSENCE refers to Early Symptomatic Syndromes Eliciting Neurodevelopmental Clinical Examinations. It is a term I have coined to refer to the reality of children (and their parents) presenting in clinical settings with impairing child symptoms before age 3 (−5) years in the fields of (a) general development, (b) communication and language, (c) social inter-relatedness, (d) motor coordination, (e) attention, (f) activity, (g) behaviour, (h) mood, and/or (i) sleep. Children with major

Scope of the problem

The estimated prevalence rates of the syndromes subsumed under the ESSENCE acronym are listed in Table 1. Most of the disorders listed have been epidemiologically surveyed during the early or middle school ages, and only a few have been the subject of prevalence studies in the preschool years. Even though all of the syndromes are present (and usually symptomatic) from the preschool years, many cases will not have come to the attention of clinicians before school age. Thus, the sum prevalence of

ASD

ASD is no longer considered a rare condition (Baird et al., 2006), rather, its prevalence during the school years is believed to be slightly higher than 1% of the general population of children. Boys are clearly much more often affected than girls, at least if we are referring to the clinically impairing variant of the autism phenotype. Skuse (2009) has argued that the autism phenotype might be equally common in males and females, and that other factors are responsible for the large discrepancy

ADHD (and oppositional-defiant disorder)

ADHD (with or without ODD) is a very common condition, affecting at least 5% of school age children (Faraone, Sergeant, Gillberg, & Biederman, 2003). In about 60% of the cases it is associated with ODD, which is usually symptomatic already around 3 years of age (Kadesjö et al., 2003). Again, boys are affected much more often than girls, and, particularly in the preschool period it is unusual for a girl to be recognised as having the condition (unless it is in the context of having another

Learning disability, non-verbal learning disability, and dyslexia

Learning problems, including learning disability, borderline intellectual functioning, non-verbal learning disability, and precursors of dyslexia (including phonological awareness problems) are common in the preschool period, and affect several per cent of both boys and girls. More often than not, such learning problems co-exist with other neurodevelopmental/neuropsychiatric disorders, such as ADHD, ASD and ODD. There is currently a clinical diagnostic substitution trend, at least in the UK,

Developmental coordination disorder

DCD has recently become the subject of more intense systematic study, after having been virtually neglected as an important clinical problem and focus of research. It is quite common, affecting about 5% of all school age children (Gillberg & Kadesjö, 2003), the majority of whom should be recognisable before age 5 years. However, currently, it is rare for a child to be given this diagnosis before school age. There is now a need for all child psychiatrists to be trained in the field of motor

Tics and Tourette syndrome

Tics are extremely common in middle childhood and probably affect at least 15% of all children at some time. Severe, chronic motor and vocal tics (the combination that is referred to as Tourette syndrome) are much less common, probably affecting about 1% of all school age children (Kadesjö & Gillberg, 2000). Tics fluctuate in intensity and over time, which means that even some severely affected individuals may not actually show any tics during consultation. Tics are rarely diagnosed in the

Bipolar disorder

Pediatric bipolar disorder is still a somewhat controversial diagnosis (Biederman et al., 2003). However, it is becoming increasingly recognised that bipolar disorder can present with symptoms already in the preschool years. Children with “ADHD” and/or depression who have a family history of bipolar disorder may actually be presenting with prodromal signs and symptoms of a bipolar disorder (Chang, 2008). Extremes of irritability, mood swings, and even classic manic symptoms may onset in the

Behavioural phenotype syndromes

As many as 0.7–0.8% of all preschool children may be affected by one (or more) of the “rare disorders”, also referred to as behavioural phenotype syndromes (Gillberg, 2009, chap. 23–25). Examples of such disorders are the fragile X syndrome, 22q11deletion syndrome, tuberous sclerosis and Smith-Lemli-Opitz syndrome. Each of these disorders is really “rare” (occurring, usually in fewer than 1 in 2000 children), but given that there are hundreds of them, taken as a group they are actually quite

Rare epilepsy syndromes

Landau-Kleffner syndrome or “verbal auditory agnosia with seizures” is a relatively rare syndrome which often presents in the preschool years and which is sometimes “misdiagnosed” as ASD, ADHD or both. Children with Landau Kleffner syndrome very often meet criteria for one or both of these types of conditions, but it is essential that the underlying epileptic syndrome not remain undiagnosed. Pulsed steroids, and, in certain cases, surgical treatments may be indicated (Cross & Neville, 2009).

Reactive attachment disorder

There is emerging evidence that reactive attachment disorder as defined under the DSM-IV-TR exists as a relatively distinct problem (Minnis et al., 2009). It can be recognised in the preschool years (Zeanah, Keyes, & Settles, 2003), and separated from – although symptomatically overlapping with – ADHD during the early school years (Minnis & Follan, in press). It also is associated with severe pragmatic language problems that are not explained by the occasional co-occurrence with ASD (Sadiq et

Overlap, co-existence and “comorbidity”

The word comorbidity is inadequate when it comes to describing and delineating the reality and meaning of the co-occurrence of phenomena, problems, symptoms, syndromes and disorders and diseases in the clinical and research field of ESSENCE. Most clinicians and researchers attach different meanings to the word comorbidity (Caron & Rutter, 1991). Using the word in a literal sense, one would assume that a person diagnosed with “comorbid” ASD and ADHD would have two different morbid (“disease”)

The implications of ESSENCE

What then are the implications of introducing a term such as ESSENCE? Let me list them, in no specific order, but with the most important conclusion summarised at the end:

  • (1)

    ESSENCE is a new acronym but not a new way of thinking about early onset childhood problems that continue to affect children's development long after the preschool period;

  • (2)

    ESSENCE is introduced so as to detract from the current trend towards compartmentalising syndromes in child and adolescent psychiatry and developmental

References (79)

  • E.H. Pinkhardt et al.

    Intensified testing for attention-deficit hyperactivity disorder (ADHD) in girls should reduce depression and smoking in adult females and the prevalence of ADHD in the longterm

    Medical Hypotheses

    (2009)
  • S.R. Pliszka

    Patterns of comorbidity with attention-deficit/hyperactivity disorder

    Child and Adolescent Psychiatry Clinics of North America

    (2000)
  • P. Rasmussen et al.

    Natural outcome of ADHD with Developmental Coordination Disorder at age 22 years: A controlled, longitudinal, community-based study

    Journal of American Academy of Child and Adolescent Psychiatry

    (2000)
  • S.I. Sharp et al.

    Genetics of attention-deficit hyperactivity disorder (ADHD)

    Neuropharmacology

    (2009)
  • J. Aicardi et al.

    Diseases of the nervous system in childhood

    (2009)
  • A. Arzimanoglou

    Dravet syndrome: From electroclinical characteristics to molecular biology

    Epilepsia

    (2009)
  • J. Asberg et al.

    Reading comprehension, word decoding and spelling in girls with autism spectrum disorders or AD/HD: Performance and predictors

    International Journal of Language and Communication Disorders

    (2009)
  • S. Baron-Cohen

    Testing the extreme male brain (EMB) theory of autism: Let the data speak for themselves

    Cognitive Neuropsychiatry

    (2005)
  • J. Biederman et al.

    Current concepts in the validity, diagnosis and treatment of paediatric bipolar disorder

    International Journal of Neuropsychopharmacology

    (2003)
  • E. Billstedt et al.

    Autism after adolescence: Population-based 13–22-year follow-up study of 120 individuals with autism diagnosed in childhood

    Journal of Autism and Developmental Disorders

    (2005)
  • D.V. Bishop et al.

    Different origin of auditory and phonological processing problems in children with language impairment: Evidence from a twin study

    Journal of Speech, Language, and Hearing Research

    (1999)
  • D.V. Bishop et al.

    Autism and diagnostic substitution: Evidence from a study of adults with a history of developmental language disorder

    Developmental Medicine and Child Neurology

    (2008)
  • C. Caron et al.

    Comorbidity in child psychopathology: Concepts, issues and research strategies

    Journal of Child Psychology and Psychiatry

    (1991)
  • M Cederlund et al.

    One hundred males with Asperger syndrome. A clinical study of background and associated factors

    Developmental Medicine and Child Neurology

    (2004)
  • K.D. Chang

    The bipolar spectrum in children and adolescents: Developmental issues

    Journal of Clinical Psychiatry

    (2008)
  • K. Chawarska et al.

    A prospective study of toddlers with ASD: Short-term diagnostic and cognitive outcomes

    Journal of Child Psychology and Psychiatry

    (2009)
  • D.E. Comings

    Tourette syndrome and human behavior

    (1990)
  • H. Coo et al.

    Trends in autism prevalence: Diagnostic substitution revisited

    Journal of Autism and Developmental Disorders

    (2008)
  • J.H. Cross et al.

    The surgical treatment of Landau-Kleffner syndrome

    Epilepsia

    (2009)
  • N.M. Debes et al.

    The presence of comorbidity in Tourette syndrome increases the need for pharmacological treatment

    Journal of Child Neurology

    (2009)
  • J.A. Dopheide et al.

    Attention-deficit-hyperactivity disorder: An update

    Pharmacotherapy

    (2009)
  • S.V. Faraone et al.

    The worldwide prevalence of ADHD: Is it an American condition?

    World Psychiatry

    (2003)
  • J.K. Ghuman et al.

    Psychopharmacological and other treatments in preschool children with attention-deficit/hyperactivity disorder: Current evidence and practice

    Journal of Child Adolescent and Psychopharmacology

    (2008)
  • C. Gillberg

    Perceptual, motor and attentional deficits in Swedish primary school children. Some child psychiatric aspects

    Journal of Child Psychology and Psychiatry

    (1983)
  • C. Gillberg

    Clinical child neuropsychiatry

    (1995)
  • C. Gillberg

    Developmental and neuropsychiatric disorders of childhood

  • C. Gillberg et al.

    The biology of the autistic syndromes

    (2000)
  • C. Gillberg et al.

    Autism under age 3 years: A clinical study of 28 cases referred for autistic symptoms in infancy

    Journal of Child Psychology and Psychiatry

    (1990)
  • C. Gillberg et al.

    Why bother about clumsiness? The implications of having developmental coordination disorder (DCD)

    Neural Plasticity

    (2003)
  • Cited by (507)

    View all citing articles on Scopus

    Presented as The Blake Marsh Lecture at the RCPsych meeting in Liverpool, June 2009.

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