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Abnormal M-CHAT and ICD-10 Insights

The document provides a comprehensive overview of the evolution of the classification and understanding of Autism Spectrum Disorders (ASD) from its early descriptions to the current DSM-5 and ICD-10 frameworks. It highlights the transition from distinct diagnoses like Asperger's and Rett's syndrome to a unified spectrum model that reflects the variability in symptoms and severity. Additionally, it discusses the complexities involved in the screening and diagnosis of ASD, emphasizing the reliance on behavioral observations due to the absence of reliable biomarkers.

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0% found this document useful (0 votes)
13 views14 pages

Abnormal M-CHAT and ICD-10 Insights

The document provides a comprehensive overview of the evolution of the classification and understanding of Autism Spectrum Disorders (ASD) from its early descriptions to the current DSM-5 and ICD-10 frameworks. It highlights the transition from distinct diagnoses like Asperger's and Rett's syndrome to a unified spectrum model that reflects the variability in symptoms and severity. Additionally, it discusses the complexities involved in the screening and diagnosis of ASD, emphasizing the reliance on behavioral observations due to the absence of reliable biomarkers.

Uploaded by

sanskriti.sinha
Copyright
© All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
Available Formats
Download as PDF, TXT or read online on Scribd

Background

In 2000, the American Psychiatric Association defined autism spectrum disorders (ASD)

as “any one of a group of disorders characterised by varying but often marked difficulties or

deficits in verbal and nonverbal communication, social interactions, and repetitive behaviours or

unusual/severely limited interests.” Thus, ASD can show Devi its three main domains, namely: i)

social-emotional reciprocity, ii) deficits in nonverbal communicative behaviours, and iii)

development, maintenance and understanding of relationships. The term ‘spectrum’ was amended

into the fifth Diagnostic Statistical Manual of Mental Disorders (DSM-5) in 2013 to show the

heterogeneity of the manifestation and severity of neurodevelopmental symptoms of the disorder.

The spectrum also pays significance to the fact that the skills and functioning levels of individuals

with ASD differ greatly. Before DSM 5, Pervasive developmental disorder (PDD) functioned as

the umbrella category that included distinct disorders such as Asperger’s disorder, Autistic

disorder, medical/genetic problems associated with disorders (Rett’s syndrome), and Childhood

Disintegrative disorder. Asperger’s disorder was characterised by behavioural (repetitive

behaviours) and social (difficulty understanding and adhering to norms) deficits. Autistic Disorder

was characterised by behavioural and communicative (includes language impairments) deficits.

Rett’s disorder (separate category now) is a rarely occurring, genetically heritable,

neurodevelopmental disorder that causes language and communication deficits, in addition to the

progressive loss of motor skills. Childhood Disintegrative disorder is a progressive

neurodevelopmental disorder that causes deficits in language/communication, social functioning

and motor development, over time. These disorders are no longer distinct diagnoses, and were all

subsumed within the Autism Spectrum. They now exist as varying severity and presentation of

symptoms within ASD (Lord et al., 2018).


The first ever description of autistic symptoms can be traced back to Jean-Marc Gaspard

Itard in 1798. However the term, ‘Autism’ was first used by Paul Eugen Bleuler in 1910, who

described it as a manifestation of schizophrenia in children. It wasn’t until 1943 that Leo Kanner

emphasised the two prevailing symptoms in this condition: “(1) autism- or severe problems in

social interaction and connectedness from the beginning of life, and (2) resistance to

change/insistence on sameness” (Kanner, 1943, as cited in Rosen et. al., 2021). In 1944, Hans

Asperger reported children having “marked social difficulties, unusual circumscribed interests,

and good verbal skills” (Rosen et. al., 2021).

Autism was first included in DSM-3 as an entirely new class of conditions under the

Pervasive Developmental Disorder (PDD) in 1980. The definition described ‘infantile autism,’ but

made clear that symptoms prevailed through adolescence and adulthood, being referred to as

‘residual infantile autism.’ PDD in DSM-3 was, for the first time, distinct from schizophrenia and

described as showing deficits in three domains: “i) lack of responsiveness to other people (autism),

ii) gross impairment in communicative skills, and iii) bizarre responses to various aspects of the

environment” (DSM-III, 1980). DSM-3-R (1987) provided a more complex description of the

disorder that required the presence of at least 8/16 criteria among the three domains, namely

deficits, impairments or dysfunctions in “communication, reciprocal social interaction, or

restricted interests/resistance to change” (Kwari, 2021). DSM-3-R also renamed the condition

from ‘infantile autism’ to ‘autistic disorder.’ These changes in DSM-3-R were made to provide

greater flexibility for clinical diagnostics. It introduced a new category, namely Pervasive

Developmental Disorder, Not Otherwise Specified (PDD-NOS) for children meeting some

diagnostic criteria. Thus the requirement to meet all criteria and for early onset were removed in

this edition of the DSM.


In 1992, the World Health Organisation released the 10th edition of the International

Classification of Diseases (ICD-10). It adopted a different outlook and approach, one that was

overarching enough to include Asperger’s Syndrome, Childhood Disintegrative Disorder, and

Rett’s disorder (Volkmar et. al., 2014).

DSM-4, published in 1994, used the traditional three-factor model for classification of the

disorder. In addition to that, DSM-4-TR, published in 2000, saw the inclusion of other pervasive

developmental disorders like Asperger’s syndrome and Rett’s syndrome, seen to be different from

PDD-NOS and were added as subcategories of PDD. DSM-4, thus categorized PDD into Autistic

Disorder (299.00), Asperger’s Disorder (299.80), PDD-NOS (299.80), Rett’s Disorder (299.80),

and Childhood Disintegrative Disorder (299.10) as subcategories of Pervasive Developmental

Disorders.

DSM-5, published in 2013, marked an important shift in the conceptualization of the

disorder. This classification combined multiple diagnoses to one single diagnosis containing

multiple dimensions (Rosen et. al., 2021). Subcategories of PDD, namely, Asperger’s Syndrome,

Rett’s Disorder, Childhood Disintegrative Disorder, Autistic Disorder, and PDD-NOS, were

eliminated as separate diagnoses. This was done because multiple field studies and researches

(mentioned separately in the references) showed that there was a high level of variability in the

severity of and presented number of ASD symptoms. The diagnostic subgroups showed similar

core symptom profiles, thus providing poor diagnostic clarity (Lord et. al., 2012a). DSM-5 also

started using a two-domain symptom model, instead of a three-domain symptom model, by

combining the communication and social symptoms into one category referred to as the social-

communication domain. DSM-5 (2013) and ICD-11 (2018), both use Autism Spectrum Disorder

as a unitary classification of the disorder’s core symptoms.


Autism Spectrum Disorder in the DSM-5 and ICD-10

The DSM-5 characterises ASD by two core features: social communication, and ii)

restrictive and repetitive sensory motor behaviours (Lord, 2018). This was done to streamline the

diagnosis of the presentation of these symptoms. To capture individual variation, DSM-5 provides

severity levels for the core symptoms. These are based on “the level of support needed for

individual functioning, in addition to specifiers which offer descriptions of common co-occurring

non-ASD impairments (i.e. intellectual impairments, language deficits, medical and psychiatric

conditions, etc.)” (Rosen et. al., 2021). Diagnosis of this disorder is complicated not only because

there is an overlap of multiple developmental symptoms, but also because there are no reliable

biomarkers and the diagnosis needs to be made based on behavioral manifestations. In addition to

this, the diagnosis of this disorder is further complicated by there being language and

communicative deficits from a young age and thus the diagnosis relies more on observed behaviour

by parents, caretakers, doctors etc. The specifications of the DSM-5 Diagnostic criteria for Autism

Spectrum Disorder (299.00) are provided in Appendix A.

ICD-10 classifies Pervasive Developmental Disorders (F84) as a category of

developmental disorders as characterised by impairments in communicative and socialisation

skills, and repetitive behaviours. The ICD-10 uses the three-domain model of symptom

categorisation, listing social reciprocal impairments and communicative deficits as two separate

categories. This diagnosis is grouped with MS-DRG 884, which is organic disturbances and

intellectual disability in some cases. The ICD-10 categorizes Childhood Autism (F84.0), Rett’s

Syndrome (F84.2), other Childhood Disintegrative Disorder (F84.3), Asperger’s Syndrome

(F84.5), other Pervasive Developmental Disorders (F84.8), Atypical Autism (F84.1), Overactive

disorder associated with mental retardation and stereotyped movements (F84.4) and Pervasive
Developmental Disorder, unspecified (F84.9) as subcategories of the Pervasive Developmental

Disorder (F84) umbrella (WHO, 1993).

Screening and Diagnosis of ASD

Screening and diagnosis of ASD differs according to the age of the individual being tested,

as they vary for very young children than for individuals in their middle childhood, adolescence,

and adulthood. In this scenario, screening refers to the detection of potential ASD in people who

either don’t have symptoms or show certain signs of the disorder. It is a tool to screen communities

and populations for children who show some signs of the disorder, have a risk of developing the

illness , etc. It is used to detect the early signs of a disorder, so treatment can be given efficiently

before the symptoms worsen. Diagnosis, on the other hand, is the investigation of a specific

concern among people who display symptoms of the disorder or have tested positive in the

screening. A diagnosis would result in long term psychiatric, psychological and medical effects,

in the case of ASD, while a positive screening would only indicate the possibility of occurrence of

the disorder in that particular individual (Hasselblad & Hedges, 1995). Research shows that most

cases of ASD are screened and diagnosed due to the parents noticing delays in development. Thus,

the available screening tools are not sufficiently sensitive to identify children with ASD in the

general populations. Ages and Stages Questionnaires (ASQ), Communication and Symbolic

Behaviour Scales (CSBS), Parents’ Evaluation of Developmental Status (PEDS), Modified

Checklist for Autism in Toddlers (MCHAT) and Screening Tool for Autism in Toddlers and

Young Children (STAT) are a few screening tools recommended by the Centre for Disease Control

(CDC). As for diagnostic tools, the CDC recommends Autism Diagnosis Interview - Revised

(ADI-R), Autism Diagnostic Observation Schedule - Generic (ADOS-G), Childhood Autism

Rating Scale (CARS), Gilliam Autism Rating Scale - Second edition (GARS-2) (CDC, 2022).
References

American Psychiatric Association. (2013). Diagnostic and Statistical Manual of Mental

Disorders (DSM-5). Washington, DC: American Psychiatric Association Publishing

American Psychological Association. (n.d.). Apa Dictionary of Psychology. American

Psychological Association. Retrieved October 4, 2022, from

[Link]

disorder?_ga=2.232165271.946202399.1664644291-1807891748.1663347435

APA (1980) Diagnostic and statistical manual of mental disorders (3rd Edition) (DSM-

III). American Psychiatric Association, Washington DC.

Breidbord, J., & Croudace, T. J. (2013). Reliability generalization for childhood autism

rating scale. Journal of Autism and Developmental Disorders, 43, 2855–2865.

Centers for Disease Control and Prevention. (2022, April 6). Screening and diagnosis of

autism spectrum disorder for healthcare providers. Centers for Disease Control and

Prevention. Retrieved October 9, 2022, from [Link]

[Link]

Chlebowski, C., Green, J. A., Barton, M. L., & Fein, D. (2010). Using the Childhood

Autism Rating Scale to Diagnose Autism Spectrum Disorders. Journal of Autism and

Developmental Disorders, 40(7), 787–799. doi:10.1007/s10803-009-0926-x

Fitzgerald, M. M. (2019). THE HISTORY OF AUTISM IN THE FIRST HALF

CENTURY OF THE 20TH CENTURY: NEW AND REVISED. Journal for ReAttach
Therapy and Developmental Diversities, 1(2), 70–77.

[Link]

Hasselblad, V., & Hedges, L. V. (n.d.). Meta-Analysis of Screening and Diagnostic Tests.

12.

Johnson, C. P., & Myers, S. M. (n.d.). Autism Spectrum Disorders. 59.

Lord, C., Elsabbagh, M., Baird, G., & Veenstra-Vanderweele, J. (2018). Autism spectrum

disorder. The Lancet, 392(10146), 508–520. [Link]

6736(18)31129-2

Lord, C. (1995), Follow-Up of Two-Year-Olds Referred for Possible Autism. Journal of

Child Psychology and Psychiatry, 36: 1365-1382. [Link]

7610.1995.tb01669.x

Mayes, S. D., Calhoun, S. L., Murray, M. J., Pearl, A., Black, A., & Tierney, C. D.

(2014). Research and autism spectrum disorders final DSM-5 under – Identifies mild

autism spectrum disorder: Agreement between the DSM-5, CARS, CASD, and clinical

diagnoses. Research in Autism Spectrum Disorders, 8, 68–73.

Moon, S. J., Hwang, J. S., Shin, A. L., Kim, J. Y., Bae, S. M., Sheehy‐Knight, J., & Kim,

J. W. (2019a). Accuracy of the Childhood Autism Rating Scale: A systematic review and

meta‐analysis. Developmental Medicine & Child Neurology, 61(9), 1030–1038.

[Link]
Ozonoff, S., Goodlin-Jones, B. L., & Solomon, M. (2005). Evidence-Based Assessment

of Autism Spectrum Disorders in Children and Adolescents. Journal of Clinical Child &

Adolescent Psychology, 34(3), 523–540. [Link]

Perry A, Condillac R, Freeman N, Dunn-Geier J, Belair J. Multi-site study of the

childhood autism rating scale (CARS) in five clinical groups of young children. Journal

of Autism and Developmental Disorders. 2005;35:625–634.

Rosen, N. E., Lord, C., & Volkmar, F. R. (2021). The Diagnosis of Autism: From Kanner

to DSM-III to DSM-5 and Beyond. Journal of Autism and Developmental Disorders,

51(12), 4253–4270. [Link]

Saemundsen, E., Magnússon, P., Smári, J. et al. Autism Diagnostic Interview-Revised

and the Childhood Autism Rating Scale: Convergence and Discrepancy in Diagnosing

Autism. J Autism Dev Disord 33, 319–328 (2003).

[Link]

Volkmar, F., Siegel, M., Woodbury-Smith, M., King, B., McCracken, J., & State, M.

(2014). Practice Parameter for the Assessment and Treatment of Children and

Adolescents With Autism Spectrum Disorder. Journal of the American Academy of Child

& Adolescent Psychiatry, 53(2), 237–257. [Link]

World Health Organization(WHO). (1993). The ICD-10 classification of mental and

behavioural disorders. World Health Organization.


Additional References - Field Studies and Researches

Lord, C. (1995), Follow-Up of Two-Year-Olds Referred for Possible Autism. Journal of

Child Psychology and Psychiatry, 36: 1365-1382. [Link]

7610.1995.tb01669.x

Macintosh, K. E., & Dissanayake, C. (2004). Annotation: The similarities and differences

between autistic disorder and Asperger's disorder: A review of the empirical evidence.

Journal of Child Psychology and Psychiatry, 45(3), 421–434.

[Link]

Saemundsen, E., Magnússon, P., Smári, J. et al. Autism Diagnostic Interview-Revised

and the Childhood Autism Rating Scale: Convergence and Discrepancy in Diagnosing

Autism. J Autism Dev Disord 33, 319–328 (2003).

[Link]

Snow AV, Lecavalier L. Comparing autism, PDD-NOS, and other developmental

disabilities on parent-reported behavior problems: little evidence for ASD subtype


validity. J Autism Dev Disord. 2011 Mar;41(3):302-10. doi: 10.1007/s10803-010-1054-3.

PMID: 20556500.

Appendix

A. DSM-5 Diagnostic Criteria for Autism Spectrum Disorder 299.00

A. Persistent deficits in social communication and social interaction across multiple

contexts, as manifested by the following, currently or by history (examples are illustrative,

not exhaustive, see text):

1. Deficits in social-emotional reciprocity, ranging, for example, from abnormal

social approach and failure of normal back-and-forth conversation; to reduced

sharing of interests, emotions, or affect; to failure to initiate or respond to social

interactions.

2. Deficits in nonverbal communicative behaviors used for social interaction,

ranging, for example, from poorly integrated verbal and nonverbal communication;

to abnormalities in eye contact and body language or deficits in understanding and

use of gestures; to a total lack of facial expressions and nonverbal communication.


3. Deficits in developing, maintaining, and understanding relationships, ranging,

for example, from difficulties adjusting behavior to suit various social contexts; to

difficulties in sharing imaginative play or in making friends; to absence of interest

in peers.

B. Restricted, repetitive patterns of behavior, interests, or activities, as manifested by at

least two of the following, currently or by history (examples are illustrative, not exhaustive;

see text):

1. Stereotyped or repetitive motor movements, use of objects, or speech (e.g.,

simple motor stereotypies, lining up toys or flipping objects, echolalia,

idiosyncratic phrases).

2. Insistence on sameness, inflexible adherence to routines, or ritualized patterns or

verbal nonverbal behavior (e.g., extreme distress at small changes, difficulties with

transitions, rigid thinking patterns, greeting rituals, need to take same route or eat

food every day).

3. Highly restricted, fixated interests that are abnormal in intensity or focus (e.g.,

strong attachment to or preoccupation with unusual objects, excessively

circumscribed or perseverative interest).

4. Hyper or hypo reactivity to sensory input or unusual interests in sensory aspects

of the environment (e.g., apparent indifference to pain/temperature, adverse

response to specific sounds or textures, excessive smelling or touching of objects,

visual fascination with lights or movement).


C. Symptoms must be present in the early developmental period (but may not become fully

manifest until social demands exceed limited capacities, or may be masked by learned

strategies in later life).

D. Symptoms cause clinically significant impairment in social, occupational, or other

important areas of current functioning.

E. These disturbances are not better explained by intellectual disability (intellectual

developmental disorder) or global developmental delay. Intellectual disability and autism

spectrum disorder frequently co-occur; to make comorbid diagnoses of autism spectrum

disorder and intellectual disability, social communication should be below that expected

for general developmental level.

Specify if:

With or without accompanying intellectual impairment

With or without accompanying language impairment

Associated with a known medical or genetic condition or environmental factor

With catatonia (refer to the criteria for catatonia associated with another mental disorder,

pp. 119·120, for definition)

(Diagnostic and Statistical Manual of Mental Disorders (5th ed.; DSM-5; American

Psychiatric Association, 2013))

B. Pervasive Developmental Disorders in ICD-10

Clinical Information
● A category of developmental disorders characterized by impaired communication

and socialization skills. The impairments are incongruent with the individual's

developmental level or mental age. These disorders can be associated with general

medical or genetic conditions.

● Broad term for disorders, usually first diagnosed in children prior to age 4,

characterized by severe and profound impairment in social interaction,

communication, and the presence of stereotyped behaviors, interests, and activities.

Compare developmental disabilities.

● Group of disorders characterized by delays in the development of socialization and

communication skills; typical age of onset is before 3 years of age; symptoms may

include problems with using and understanding language; difficulty relating to

people, objects, and events; unusual play with toys and other objects; difficulty with

changes in routine or familiar surroundings, and repetitive body movements or

behavior patterns; autism is the most characteristic and best studied pdd; other types

of pdd include asperger syndrome, childhood disintegrative disorder, and rett

syndrome; prefer nts where possible.

Codes

F84 Pervasive developmental disorders

F84.0 Autistic disorder

F84.2 Rett's syndrome

F84.3 Other childhood disintegrative disorder

F84.5 Asperger's syndrome

F84.8 Other pervasive developmental disorders


F84.9 Pervasive developmental disorder, unspecified

These codes can be linked to specific information regarding the subcategory disorders of

PDD, as provided in ICD-10.

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