INTELLECTUAL DISABILITY

Mental retardation is a developmental disorder and is associated with significant limitations

in intellectual functioning and adaptive behaviors. Currently, it is widely referred to as
“intellectual disability (ID)” and “intellectual developmental disorders (IDDs).”

In India, the Rights of Persons with Disabilities Act (2016) has introduced the term
“intellectual disability” in the place of “mental retardation.” However, India being a
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signatory country to the World Health Organization (WHO), where the International
Classification of Diseases, 10th revision (ICD-10) guidelines are adopted in the clinical
practice, the term “mental retardation” is still in clinical use (The WHO Working
Group on the Classification of Intellectual Disabilities has recommended replacing the
term “mental retardation” with “IDD” in ICD-11 [Salvador-Carulla et al., 2011]. Thus,
both the terms, intellectual disability and mental retardation, are in use in India.
Despite variation in the terminology and the differences in the criteria for diagnosis
(e.g., ICD-10; Diagnostic and Statistical Manual of Mental Disorders, 5th Edition
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[DSM-5]) and assessment of disability (as notified in the guidelines in January 2018,
which are based on the RPD Act), it is commonly agreed that significant impairments
in intellectual functioning and adaptive behavior during the developmental period is
the hallmark of the condition
It is estimated that nearly 2.5% of the global population will have low levels of
intellectual functioning commensurate with ID. However, a wide variation in point
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prevalence of ID has been reported in India, from around 1/1000 to32/1000,

depending on the case definition, methodology, and population selected. An important
point that can be noted in the literature is that prevalence rates vary depending on
whether deficits in either intellectual functioning or adaptive behavior or both are
considered.
Although ID is recognizable in infancy or early childhood, it is often difficult to
accurately diagnose it before 5 years of age. Hence, global developmental delay
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(GDD), which often predicts future development of ID, is used as a surrogate marker
in children between the age group of 3 months and 5 years. Shevell et al. (2008)
defined GDD as evidence of significant delay in two or more of the following
developmental domains: gross/fine motor, speech/language, social/personal,
cognition, and activities of daily living. However, not all cases of GDD may have
cognitive deficits or end up as ID
Males are diagnosed with ID 30% more than females, especially in the milder ID
range. However, this difference seems to disappear when the ID is more severe. ID is
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also associated with high morbidity and extreme costs of care. ID can cause significant
impact on the individual, families, health-care system, and state.

DISABILITY ASSESSMENT

Nature and needs of the condition

ID is a permanent condition therefore it creates special needs for both the individual and
the family across the life span.
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The needs could be related to independent mobility, physical care, communication needs,
modified curricula, aids and appliances, occupational and vocational opportunities, and
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medication if there are treatable, comorbid medical conditions.

The special needs may necessitate support in varying degrees throughout the life span.
Therefore, holistic programs should address the lifelong needs in a step-by-step fashion.
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 For instance, when a child with ID is in preschool years, the needs may center
around self-care, sociocommunication skills, and school readiness skills but not so
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much about independent living or literacy.

o Similarly, for an adolescent with ID, the needs could be about education,
prevocational training, and future independent living.
As these examples indicate, ID will imply long-term, multidisciplinary approach to
intervention for optimum outcome.
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Etiological workup of intellectual disability

The etiology of ID/GDD is heterogeneous. The cause for ID and GDD can be
nongenetic/environmental or genetic.
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Nongenetic causes
o such as prenatal infections
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o substance use like alcohol intake during pregnancy, and

o postnatal meningoencephalitis account for only one-third of cases and the rest
are of genetic origin.
Most of the nongenetic causes produce ID which is usually static in nature and
potentially amenable for training.
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o Further, the nongenetic causes in the subsequent pregnancies are either

treatable or preventable, especially the maternal factors
o such as malnutrition, diabetes, teratogenic drugs, and substance use.
Genetic diagnosis is essential not only for accurate genetic counseling of recurrence
risks and prenatal diagnosis, but also for appropriate management
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Comorbidities

Medical comorbidities

Various medical comorbidities are often associated with ID. Depending on the
etiology, varying degrees of both neurological and nonneurological comorbidities are
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encountered. Some are a consequence of ID itself.

Few of the common medical comorbidities are the following:
o epilepsy, spasticity, dystonia, ataxia, visual impairment, hearing impairment,
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congenital heart disease, cleft lip and cleft palate, limb anomalies such as
congenital talipes equinovarus, congenital dislocation of hip joint, renal
malformations, failure to thrive with vitamin and mineral deficiencies, recurrent
infections, feeding disorder, and short stature.
o Epilepsy is a common comorbidity with a prevalence of nearly 15%–30%. With
increasing severity of ID, the prevalence increases to around 50%. Similarly,
many electroclinical syndromes of epilepsies such as early infantile epileptic
encephalopathies, West syndrome, and Ohtahara syndrome as well as other
late-onset syndromes such as Lennox–Gastaut syndrome are invariably
associated with ID. Ongoing seizures, especially if treatment refractory, often
lead to developmental arrest. Such a condition remains a barrier against
training and thereby against any hope of making developmental gains. Hence, it
is essential that these disorders need particular attention and rigorous
management.
 Another domain of neurological disorder that impairs motor development and
locomotion is the impairment in pyramidal, extrapyramidal, or cerebellar
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systems as well as combined.

Spasticity, dystonia, tremors, and ataxia often lead to impairment in motor
development and thereby successful locomotion. It is essential to differentiate
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the static or progressive forms of these disorders for appropriate counseling

and management.
The medical comorbidities can be significant barriers for training and
developmental learning and require attention in overall management. One can
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anticipate almost certainly the possibilities of physical disorders based on the

etiology behind Id

Behavioral and psychiatric problems

People with ID are 3–5 times at higher risk of any psychiatric disorder compared to
the general population at all ages, with a cumulative prevalence of around 40%. It is
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conceivable that global cerebral functioning is affected by varying etiologies causing

ID, which in turn can lead to a variety of neuropsychiatric manifestations.
Besides these neurobiological underpinnings, social discrimination and deprivation
can also influence the onset of psychiatric comorbidities in this group.
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Neuropsychiatric manifestations often commence insidiously with atypical

presentation and are commonly written off as spectrum manifestations of ID. Hence, it
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is mostly underreported, misdiagnosed, and undertreated. This pattern of “diagnostic

overshadowing and masking” is well documented. Limited choice in using structured
diagnostic interviews is another barrier for accurate diagnosis of comorbid psychiatric
condition. Eventually, only symptomatic treatment is resorted to, which may not solve
the entire problems. Therefore, special efforts are required to identify behavioural and
psychiatric disorders. The etiology of ID can often provide clues to anticipate certain
psychiatric comorbidities as certain behavioral phenotypes are frequently associated
with some syndromes.
OVERVIEW OF ASSESSMENTS AND EVALUATION

Assessment is a process of collecting data for the purpose of making decisions.

Assessment provides us with baseline information for intervention, whereas the
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evaluation is the assessment of outcome of an intervention. In clinical practice,

therefore, we need both assessment and evaluation methods. The purpose of the
assessment is as follows:
o a. To identify the condition based on specific criteria and to establish that it is a
clinical entity that requires appropriate mental health services and placement
decisions
o b. To identify and treat etiological factors and risk factors for ID
o c. To identify the needs implicated by the condition and design a program plan
to reduce the disability impact
o d. To match the nature and needs of the conditions effectively with the best
intervention methods available
o e. To evaluate the effectiveness of intervention.
 The following key questions could be asked to guide assessment, intervention, and
outcome measure [Please see Appendix 1 for more details]:

• What is the nature of the delay – specific or global?

• Is the delay associated with significant limitations in intellectual functioning and

adaptive behaviour?

• Are there any comorbidities?

• Are there any treatable etiological conditions?

• What are the areas of intervention?

• Where and how the intervention should be carried out?

• Where the individual should be placed for maximum help (or, what are the
existing agencies/service providers through which the interventions can be
implemented)?

• How to evaluate the intervention outcome (or, what are the indices to stop
intervening)?

History taking : The purpose of eliciting the history is to establish that there is an
evidence for deficits in both intellectual functioning and adaptive behaviors that have
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an onset during the developmental period, to note possible etiology of ID, and to
identify comorbidities and response to interventions, if any.
o Therefore, it requires interviewing of key people including the index patient and
behavioral observation of the patient. Key people could be parents, caregivers,
and service providers who know the birth and developmental history of the
child.
o A useful and comprehensive approach to assessment would include noting chief
complaints in chronological order with mode of onset, duration, and
precipitating event followed by a history of presenting illness and a detailed
prenatal and perinatal history as a prelude.
o Developmental history in greater detail, particularly related to motor, language,
and communication; self-help skills; socioemotional skills; cognition; and
occupational skills/leisure-time activities; medical comorbidities and its
treatments;
o psychiatric history including the details of onset, evolution, and current status
of behavioral and other psychopathological disturbances; and treatment history.
o This should be followed by a comprehensive family history including the
three-generation pedigree; consanguinity; family background; current living
arrangements; and details of potential stressors, coping, and adaptation by the
family.
o Physical examination It must involve routine systemic examination,
anthropometric assessment, and observation of atypical morphological features
suggestive of specific genetic disorders. Detailed physical examination helps to
identify the etiology in a majority of cases, detect comorbid medical conditions,
and also order appropriate investigations. Physical examination in cases with ID
consists of three parts which are as follows:
 Anthropometry: This provides indication toward nutritional status and
underlying medical or genetic condition. The measures should include the
following: height (length in case of neonates and infants), arm span,
upper segment and lower segment lengths, sitting height, weight, head
circumference, chest circumference, abdominal circumference,
intercanthal and interpupillary distances, and palm and foot lengths.
 Dysmorphology examination: Dysmorphology is the observation,
documentation, and study of birth defects as well as syndromes. A
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thorough head-to-toe examination should be carried out to identify minor

physical anomalies (MPAs), which provide clues toward etiological
diagnosis, especially the genetic disorders [Table 2]. It requires keen
observation and knowledge of normal versus abnormal morphology
Examination of major organ systems A systematic examination of all the
organ systems to rule out multiorgan involvement and comorbid medical
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conditions has to be performed for overall assessment and management.

It is essential to be meticulous in observing and documenting the findings
of physical examination as many of the MPAs can be easily missed.
Hence, it may be important to take photographs or videos after informed
consenting to document and revise the original findings at a later date.
Some of the essential things to note are vision, hearing, locomotion
(videos may help), and any major congenital anomalies. The presence of
MPAs provides clues toward genetic versus nongenetic etiologies [Table
2]. Hence, branding every child universally with cerebral palsy which is
often due to a nongenetic cause with a static course can be avoided.
Presence of four or more MPAs should alert the physician toward
probable genetic cause
Assessment of intellectual functioning and adaptive behavior

ICD-10 advocates a IQ cutoff of 70 to identify ID and different IQ ranges for categorizing four
severity levels such as,

mild (IQ: 50–69),

moderate (IQ: 35–49)
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severe (IQ: 20–34)

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and profound (IQ <20)

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Clinicians may note that the choice of tests in the Indian context is limited notwithstanding
the fact that the norms are in many cases are not revised [Appendix 2]. This is a major
concern given the evidence for Flynn effect, which refers to observed rise in IQ scores over
time and related norm obsolescence. Therefore, the IQ scores should not be rigidly
interpreted
Depending on the language development and conversational skills, verbal interview can be
conducted with simple, structured, clear, and concrete questions. It is better to avoid leading
questions. The examination may include the following:

1. Basics: Behaviors suggesting sensory-motor impairments or physical health issues

2. Response to interview situation: Excited, fearful, tense, shy, inhibited, guarded,
uncooperative, or defiant •
3. Alertness: Overaroused, withdrawn
4. Attachment to parents and response to separation: Clinging, wanting to be carried all
the time, indifferent to separation
5. Sociability: Social orientation, approachability,
6. social responsiveness, eye-to-eye contact, reciprocal interactions, and awareness of
social boundaries •
7. Motor activity level: Fidgetiness, restlessness, hyperactivity, lethargy
8. Course of motor behaviors during interview or response to firm instructions: Quiet
initially, but restless later on; unresponsive to firm instructions
9. Impulse control: Snatching, spilling, falling, bumping, climbing, interfering, temper
tantrums; aggressive acts such as biting, throwing, beating, pulling hair, slapping
10.Attention and concentration: Goal directedness, task completion, distractibility
11.Speech, language, and communication: Verbal/ nonverbal comprehension and
expression; vocabulary, articulation, and flow
12.Mood: Inhibited, excessively cheerful, whining and crying, irritable
13.Play behavior: Type of activity, duration, themes, etc.
14.Other inappropriate behaviors: Any excess behaviors that are inappropriate to the age
and sociocultural context
15. Impressions on current developmental attainment: Whether excess behaviors or skill
deficits are typical of a known psychiatric or developmental disorder?
16. Parent–child interactions: Quality of engagement with child; communication patterns;
degree and quality of control over the child; response to good and bad behaviors.

ASSESSMENT OF FAMILY NEEDS

 Specifically in the context of ID, studies indicate that their perceptions of the condition,
disability impact, perceived support, and stress and coping mechanisms are very
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important moderators of intervention.

Therefore, clinicians must consider assessing these areas further. Need may be
appropriate tools such as the following could be used for this purpose: Global
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Entrepreneurship Monitor Questionnaire, Disability Impact Scale, Family Support Scale,

Family Efficacy Scale, Family Needs Schedule (note: these scales are available in public
domain at www.nimhindia.org/ punblications); and Family Interview for Stress and
Coping in Mental Retardation for assessing stress and coping of the parents of children
with ID

MANAGEMENT : The multiaxial system of comprehensive diagnosis of IDD is taken from

NIMHANS evaluation pro forma for IDDs):
1. Level of intellectual functioning (i.e., severity of ID)

2. Etiology/syndrome -
3. Associated medical problems

4. Associated psychiatric problems : Nearly 20%–80% of the ID population can have

problematic
behaviors ranging from hyperactivity, temper tantrums, odd behaviors, to aggression.
o Behavioral problems are potential reasons for stigma, segregation, and caregiver’s
burden.
o Lack of occupation and limite developmental opportunities and communication
deficits are major factors of problematic behaviors.
o While problematic behaviors can be a source or trigger for psychiatric problem and/or
part of psychiatric disorder, they can also exist independently.
o MANAGEMENT
o IDENTIFICATION- BASAL BASIC MR , target behaviours, functional analysis for
antecedent and maintaining factors.
 Can be implemented through the following three levels: i. Restructuring the
environment to control the antecedents and provide ample opportunities for
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positive learning
o ii. Differential reinforcement to strengthen the adaptive behaviors by providing
opportunities for reinforcement of adaptive behaviors
o iii. Controlling inappropriate reinforcement of problematic behaviors.
Appropriate services can beobtained from programs under the Sarva Shiksha Abhiyan,
National Institute of Open Schooling, District Disability Rehabilitation Centers,
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Composite Rehabilitation Centers, national institutes, and local nongovernment

agencies (more details of the government schemes can be found at
www.socialjustice.nic.in).

MEDICIATION – Methylphenidate- adhd ; antipsychotics for Schizophrenia,

o

Risperidone for Aggression

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5. Family and psychosocial factors (e.g., awareness, attitude-overprotective, negligent,

hostile, favorable; expectations; consistency of parenting; quality of stimulation; stressors
in the family, family discard; caregivers’ burnout)
o PSYCHOEDUCATON- ON NATURE , NEEDS, AND MANAGEMENT ALONG WITH
COMORBIDITIES
o SUPPORT SYSTEM TO FIND RESOURCES, THERAPY, EDUCATION AND
VOCATIONAL AND OCCUPATIONAL NEEDS
o AWARE OF LEGAL AND SOCIAL PROVISIONS LIKE DISABILITY CERTIFICATE
o SLEF ADVOCACY- NATIONAL TRUST ACT FOR ADULT ID IS MUST
o MAKING MEANING AND DEVELOPING SENSE OF CONTROL
o FAMILY SUPPORT CAREGIVER CARE AND BUNROUT PREVENTION
CLINICAL PRACTICE GUIDELINES Clinical Practice Guidelines for Assessment and
Management of intellectual disability M. Thomas Kishore, Gautham Arunachal Udipi,
Shekhar P. Seshadri 2019