Functional Behavioural Assessment in People

With Intellectual Disabilities [Mental

Retardation and Developmental Disorders]
Authors and Disclosures
Posted: 09/22/2006; Updated: 10/04/2006; Curr Opin Psychiatry CME. 2006;19(5):475-
480. © 2006 Lippincott Williams & Wilkins

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• Abstract and Introduction

• Evolution Towards Considering the Function of Problem Behaviour
• Conclusion
• References
Abstract and Introduction
Abstract
Purpose of Review: The presence of problem behaviours often impede an individual's quality of
life and ability to be fully included in the environments of his or her choice. Functional
behavioural assessment has been gaining widespread use in all settings in which people with
intellectual disabilities might present problem behaviours. Understanding the function of these
problem behaviours is a critical component to developing an effective intervention plan. This
paper presents a review of the current knowledge and findings regarding functional behavioural
assessments.
Recent Findings: The recent studies on functional behavioural assessment have supported the
well established fact that success in reducing behaviour problems is closely linked to
understanding the function of the problem behaviour. Implementing functional behavioural
assessment in school settings has been met with some challenges. Although a complex process,
recent research has shown promise in training nonprofessionals in learning to carry out a
functional behavioural assessment and implementing the information gained from the functional
behavioural assessment into an effective behavioural intervention.
Summary: The necessity of conducting a functional behavioural assessment is uncontested.
Developing a behavioural intervention on the information obtained from a thorough functional
behavioural assessment is part of best practice in the field of intellectual disabilities. We have the
tools to conduct, and train others to conduct, a comprehensive functional behavioural
assessment.
Introduction
Behaviour problems are more prevalent in persons with intellectual disabilities than in the
general population. As many as one-third of all individuals with an intellectual disability has a
mental health or behaviour problem requiring specialized support services
Behaviour problems are the primary reasons that individuals with intellectual disabilities are
maintained in institutional facilities or lose community placements.[2] Researchers have also
documented the increased stress and burden on families caring for a child or adult with
intellectual disability and co-occurring mental health or behaviour problems.[3-5] These
individuals often present with complex clinical pictures that necessitate a comprehensive
interdisciplinary clinical assessment to identify the causes of the co-occurring psychopathology.

Functional Behavioral Assessment and

Mental Retardation: Evolution Towards
Considering the Function of Problem
Behaviour
Authors and Disclosures

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• Abstract and Introduction

• Evolution Towards Considering the Function of Problem Behaviour
• Conclusion
• References
Evolution Towards Considering the Function of Problem Behaviour
Initially, behaviour change principles were limited to reinforcing desired behaviours and
punishing undesired behaviours. This approach came to be known as behaviour modification and
was used extensively with individuals with intellectual disabilities in the 1960s and 1970s. As
correctly pointed out by Hastings and Noone,[6*] behaviour modification was a rudimentary
behaviour management approach that was more preoccupied with punishing problem behaviour
and reinforcing appropriate behaviour than understanding and addressing the function served by
the problem behaviour. A more empirical approach, known as applied behaviour analysis
(ABA), evolved out of behaviour modification and introduced the concept of analysing the
function of behaviour.[7] The ABA approach was much more sophisticated and successful than
simple behaviour modification because it developed its interventions empirically and tailored
them to the identified function of the target behaviour for that person.
A later breakaway group of ABA clinicians was formed in the mid-1980s and represented
individuals concerned with the overreliance on aversive strategies. [8] The group labelled their
approach positive behaviour support (PBS). Much like ABA, PBS rests its interventions solidly
on the assessment of the function of the problem behaviour and also proposes intervening more
heavily on the target behaviour's antecedents versus its consequences. Some of the PBS
proponents advocate never using aversive methods, whereas other PBS supporters prefer to
restrict the use of aversive methods to strategies that do not inflict pain to the individual. [9]
Realizing that people do not engage in problem behaviour because they have intellectual
disabilities is crucial. People with intellectual disabilities engage in problem behaviours because
these behaviours serve a function, a purpose. Often, complex behaviour problems have multiple
functions and may serve different functions across individuals and settings. Understanding the
function of behaviour is critical in the process of intervening in reducing the frequency, severity
and/or intensity of behaviour problems (sometimes called challenging behaviours) while
improving the individual's quality of life.
Functional Analysis and Functional Behavioural Assessment
Functional analysis was the first method developed to understand behaviour through systematic
observation and analysis of the relationship between the behaviour and its antecedents and
consequences. Functional analysis was first developed in the laboratory using an analogue
assessment procedure.[10] The analogue assessment empirically tests the functional relationship
between the target behaviour and its related antecedents or consequences. Depending on the
nature of the problem behaviour and the inherent dangers involved in performing an analogue
assessment, the risks associated with this approach to functional assessment may outweigh its
benefits.
Iwata and Worsdell [11*] recently presented an excellent review of functional behavioural
assessment (FBA) methodology. These authors summarized the outcome of a well conducted
FBA as including three elements for identifying the function of problem behaviour: (a) identify
the antecedents that might be triggering/causing the behaviour, (b) identify the consequences that
might be maintaining/reinforcing the behaviour, and (c) generate ideas about functional
alternatives to the target behaviour that can serve the same function but are more socially
acceptable.
It has become a well accepted ethical standard, as highlighted by Hastings and Noone,[6*] that a
behavioural intervention or support plan must be derived from an individualized FBA of the
problem behaviour. An individualized behaviour support plan that is not derived from a
systematic FBA is a throwback to the days of behaviour modification of the mid-1960s and
should be promptly discarded.
Interdisciplinary and Multimethod Assessment Process
The relationship between problem behaviours and psychiatric disorders in people with
intellectual disabilities is complex.[12] Individuals with intellectual disabilities experience signs
and symptoms that are clearly attributable to a specific psychiatric disorder defined by the
Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, Text Revision (DSM-IV-
TR) or International Classification of Diseases, Tenth Revision (ICD-10). Some clinicians have
also proposed using certain behaviours as equivalents or substitutes to DSM symptoms when
attempting to establish certain mental health diagnoses in individuals with intellectual
disabilities,[13] whereas others feel that the evidence is lacking to support the use of behavioural
equivalents.[14,15] Mental health and behaviour problems may also be related to the onset of a
medical condition (e.g. ear infection, ulcer, diabetes, seizure disorder, and thyroid disorder) or
factors related to the environment. Behavioural problems also exist that a functional assessment
can clearly document as caused or maintained by learning history or contingencies in the
individual's environment. In most cases, co-occurring mental health problems in individuals with
intellectual disabilities are caused or maintained by a combination of factors. These multiple
factors might relate to biology, physical environment, social environment, life experiences,
psychology or any combination thereof. As such, using an interdisciplinary or multimethod
assessment approach to effectively assess and diagnose or rule out health and mental health
problems in individuals with intellectual disabilities is recommended. [16]
Several comprehensive evaluation methods to assess psychiatric disorders and behaviour
problems in individuals with intellectual disabilities have been proposed in the literature:
multimodal evaluation approach [17], comprehensive ecobehavioural assessment model,[18] and
expert consensus.[19] Model evaluations incorporate a multimethod approach including the
following:
1. personal/social history (e.g. recording of recent stressors);
2. physical examination and medical history;
3. evaluation of current medication and possible side effects or interaction effects;
4. psychiatric evaluation;
5. FBA.
Once medical, dental, psychiatric and pharmacological influences have been assessed and either
treated or ruled out, proceeding with an FBA to identify the factors triggering or maintaining the
behaviour is advised.
Functional Behavioural Assessment
FBA is a process that contains the following crucial components in identifying the function of
behaviour.[20*]

1. clear operational definition of the problem behaviour(s);

2. identification of the times, places and circumstances in which the problem behaviour(s)
occurs and does not occur;
3. identification of the factors that precede the occurrence of the problem behaviour (i.e.
antecedents);
4. identification of the factors that follow the occurrence of the problem behaviour (i.e.
consequences);
5. experimental functional analysis of antecedents and consequences to observe their causal
relationship with the target behaviour;
6. development of hypotheses regarding the function or relationship between the problem
behaviour and the individual's environment, which then lead to proposed intervention
strategies;
7. ongoing data collection to monitor/revise hypothesized functional relationship and/or
implemented intervention strategies.

Operational definition of target behaviour

The first step in conducting an FBA is operationally defining the target behaviour. Although this
seems like a simple task, often this step is not done well or not done at all. In an exhaustive
review of the State's implementation of FBA requirements in the public schools under the U.S.
Individuals with Disabilities Education Act, Weber and colleagues [21*] found that 88% of states
provide a clear guideline that personnel must provide a definition of the target behaviour.
Generally, this definition should be operational to the extent that it will lead to observers being
able to reliably document its occurrence or absence. Recent research on the effectiveness of the
implementation of FBAs in American schools paints a worrisome picture. Although states may
require in their regulations that an FBA contain a definition of the target behaviour, it seems that
school personnel often fail the first step of conducting an FBA, providing an adequate
operational definition of the target problem behaviour. Van Acker et al. [22**] reported on an
extensive review of best practice across Wisconsin. They reported that despite receiving
systematic training in the elements in conducting an FBA, many school teams continued to
present major deficiencies in conducting FBAs. Of the FBAs reviewed by the authors, 70%
contained operational definitions of the target behaviour that contained vague/subjective (e.g.
rude) terms or broad categories (e.g. disruptive). Almost one out of five FBAs reviewed did not
even contain an operational definition of the target behaviour.[22**]
Conducting an effective FBA starts with a clear set of definitions of all target behaviours under
study. Staff needs to be trained in how to define a target behaviour. A good operational definition
of problem behaviour is one (a) that can be seen, (b) the frequency of which can be counted and
(c) on which different observers agree completely regarding its occurrence and absence.
Assessing the Antecedents and Consequences
Components #2, #3, and #4 are gathered from a combination of sources that most likely include
the use of direct observation [e.g. Antecedent-Behaviour-Consequence (ABC) Monitoring Sheets
or Scatter plot]; indirect observation measures such as rating scales [e.g. Motivation Assessment
System, Questions About Behavioural Function (QABF)], and interviews of individuals, family
members, teachers, direct-support staff, among others (e.g. use of the interview format proposed
by O'Neill et al.
In the past year, much research has focused on comparing the contribution of indirect methods
and direct methods of obtaining information regarding the function of problem behaviour against
the 'gold standard' of the experimental functional analysis. The experimental functional analysis
is a complex procedure requiring extensive training to effectively implement but is the only
method that allows for cause-effect conclusions.[11*]
Direct Measures. Direct measures involve direct observation and recording of the target
behaviour and its antecedents and consequences as they occur in real time in the environment.
Examples of direct measures are (a) computer-assisted observation systems that permit coding of
observed behaviour and (b) ABC observation recording sheets. Both these measures typically
record information such as time of occurrence of problem behaviour, antecedent, consequence,
who was present, setting information, and so forth.
Indirect Measures. Two of the better known rating scales that provide indirect measures of the
function of problem behaviour include (a) Motivation Assessment Scale [23] and (b) QABF.[24]
Both rating scales are completed by the informant who has observed the individual display the
problem behaviour. A series of items (e.g. person engages in behaviour in order to avoid a
demand) are rated on a likelihood scale (e.g. Never ... Often). These rating scales are scored
indicating the likelihood that the behaviour serves a function such as the following: get social
attention, escape a demand, obtain a tangible, and so forth. The main advantage of these indirect
methods over the direct methods of gathering functional information is their economy in time of
administration. These scales can be typically completed in less than 15 min.
Comparing Methods
Hall [25**] used a sample of four adults with significant developmental disabilities and complex
behaviour problems (some of the target behaviours included head banging, hair pulling, eating
nonedibles, hitting staff, pulling staff's hair, and kicking staff) to systematically compare the
information obtained via direct and indirect methods of FBA and functional data verified through
an empirical functional analysis (analogue assessment). In his study, Hall compared the function
of behaviour information obtained via (a) informants using the QABF checklist,[24] (b) direct
observations obtained in each participant's natural setting over a 4-week period using a handheld-
computer observational system and (c) systematic experimental analogue functional assessment
[10]
carried out in a quiet room in the individual's natural environment. During the experimental
functional analysis, all participants were systematically assessed for the following functions:
staff attention, escape demand, obtain tangible, and alone-internally reinforced.
The hypotheses of the function of problem behaviour obtained for the four participants from the
direct methods (direct observation system) and indirect methods (QABF) were compared against
the functions identified in the empirical functional analysis. Interestingly, the direct observation
data led the author to conclude that the problem behaviours for the four participants were
maintained by staff attention. This was corroborated by the experimental functional analysis in
only one case. Thus, the direct method and experimental method concurred in only one out of
four participants. The indirect method (QABF) and functional analysis were in agreement
regarding the function of the target behaviours in three out of four participants. Hall [25**]
concluded that the indirect method using the QABF provided concordant hypotheses regarding
the function of the problem behaviours of most individuals and can be used as an adequate
source of information when conducting an FBA. The empirical functional analysis remains a key
component of any FBA; however, these data provide empirical support for the use of indirect
measures of functional assessment as alternatives to the more time-consuming and professional-
intensive functional analysis. As there was a much lower agreement between the direct method
and the conclusions of the experimental functional analysis, direct observational measures should
only be used in conjunction with other methods.
Scott and colleagues [26*] reported that school teams, despite receiving training in FBA, often
resorted to interventions that they were familiar with even when they did not fit with the
conclusions of their FBA. This finding was corroborated by similar research done by Van Acker
et al. [22**]. Furthermore, Scott et al. reported that many of the reviewed intervention plans in the
schools that were supposedly derived following an FBA proposed interventions that relied upon
a greater propensity towards punitive strategies rather than more reinforcement-based
interventions such as teaching alternative behaviours.
Rapport and Staff Attributions
Several authors have studied the relationship between individuals with intellectual disabilities
and their staff and how the quality of their rapport impact the staff attributions towards the
function of their clients' problem behaviours. Conversely, staff attributions may impact rapport
and may act as a setting event that influences the occurrence of challenging behaviour.[27**]
McLaughlin and Carr [28**] demonstrated that when an intervention specifically targets the
improvement of rapport between the staff and the client, the severity of problem behaviour
decreases. This is also a critical line of research as it can lend credence to the use of staff
interviews about behavioural function and get staff to complete rating scales assessing different
possible functions of existing problem behaviours.
Noone and colleagues [27**] studied staff attributions of clients' aggressive behaviour towards
staff. In their study of attributions assigned to the cause of their client's problem behaviours, 23
staff members were able to provide differential information about two different clients both of
whom presented aggressive behaviour directed towards staff. Using an adapted version of the
Attributional Style Questionnaire, staff reported differing functions, thus indicating that the
personnel were able to discern differences in function of similar topographies of problem
behaviours in different individuals with intellectual disabilities. These findings are important as a
potential line of intervention and in light of the wide spread use of indirect methods (rating scales
completed by staff, interviews of personnel about their observations of behavioural functions) in
completing comprehensive FBAs.
Training Staff and Parents to Conduct a Functional Behavioural Assessment
Training of staff in conducting FBAs has been shown to be successful. McClean and colleagues
[29**]
used a method that they coined 'person-focused training', which essentially refers to training
direct support in conducting FBA and designing and implementing function-based behavioural
intervention plans. The authors trained 138 staff and person-focused training consisted of 9 days
across 6 months with practical exercises in between blocks of training. This training consisted of
approximately 4 days' worth of training on functional assessment and the remaining 5 days on
intervention and case review strategies. McClean et al. reported a substantial reduction in
problem behaviour in 77% of the participants at almost 2-year follow-up. Wacker and colleagues
[30**]
also reported encouraging results in training parents of young children with intellectual
disabilities in conducting functional analytic procedures. Wacker et al. demonstrated the
feasibility of successfully training parents in understanding and conducting experimental factor
analysis and implementing subsequent effective intervention over a 4-year period. The authors
reported an average suppression of problem behaviours of 85% following the parents' training in
functional assessment and intervention implementation. It should be noted that parents in
Wacker et al.'s study had easy access to a behaviour specialist for consultation and support. This
might be a salient feature of the success of their program.
These results are encouraging in that they indicate success in training nonprofessionals in
achieving success in conducting FBAs and subsequent behavioural interventions.

Functional Behavioral Assessment and

Mental Retardation: Conclusion
Authors and Disclosures

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• Abstract and Introduction

• Evolution Towards Considering the Function of Problem Behaviour
• Conclusion
• References
Conclusion
Best practice dictates that any behavioural intervention or support plan for an individual with
intellectual disabilities be based upon a systematic and detailed FBA of the problem behaviours.
Any individualized intervention aimed at changing problem behaviour that is not preceded by an
FBA runs counter to established ethical standards. A planned behavioural intervention should not
be driven by intuition but rather by observable and measurable data. Clinical judgement should
not be used as a substitute to a rigorous analysis of the relationship between individuals' problem
behaviours and their environment. In fact, Schalock and Luckasson [31] pointed out that clinical
judgment is not intuition or opinion but a higher order level of judgment that is rooted in
training, experience, and expertise and that is also based soundly upon extensive data. Hence,
clinical judgment may drive hypotheses about the function of problem behaviour but only after
completing a comprehensive FBA and not before. An FBA is a detailed process requiring
multiple sources of direct, indirect and at times empirical methods in determining the key
elements to be addressed in an intervention plan. FBA, when done properly, can lead to
improved functioning and a better quality of life for individuals with intellectual disabilities who
also present with complex problem behaviours. Parents and nonprofessionals can be trained to
become effective partners in conducting an FBA. Another important area of focus in the past
year of research has been with respect to staff attributions and rapport between staff and clients
and the impact of the quality of rapport on severity of problem behaviours.
 Table of Contents
« Sectio
Previou n 3 of
s Page 3

• Abstract and Introduction

• Evolution Towards Considering the Function of Problem
Behaviour
• Conclusion
[ CLOSE WINDOW ]

References
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national sample of public residential facilities. Am J Ment Defic 1983; 88:13-
20.
3. Hastings RP, Beck A. Practitioner review: stress intervention for parents of
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stress in young people with autism spectrum disorders. J Intellect Disabil Res
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5. McIntyre LL, Blacher J, Baker BL. Behaviour/mental health problems in young
adults with intellectual disabilities: the impact on families. J Intellect Disabil
Res 2002; 45:239-249.
6. * Hastings RP, Noone SJ. Self-injurious behaviour and functional analysis:
Ethics and evidence. Educ Train Dev Disabil 2005; 40:335-342. The authors
present a good review of the ethical guidelines as well as the literature
documenting the clinical merits of conducting a FBA prior to developing a
behavioural intervention plan.
7. Baer DM, Wolf MM, Risley TR. Some current dimensions of applied behavior
analysis. J Appl Behav Anal 1968; 1:91-97.
8. Bambara LM, Dunlap G, Schwartz I. Positive behavior support: critical articles
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ED Inc.; 2002.
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10.Iwata BA, Dorsey MF, Slifer KJ, et al. Toward a functional analysis of self-
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11.* Iwata BA, Worsdell AS. Implications for functional analysis methodology for
the design of intervention programs. Exceptionality 2005; 13:25-34.
12.Rojahn J, Matson JL, Naglieri JA, Mayville E. Relationships between psychiatric
conditions and behavior problems among adults with mental retardation. Am
J Ment Retard 2004; 109:21-33.
13.Hemmings CP, Gravestock S, Pickard M, Bouras N. Psychiatric symptoms and
problem behaviours in people with intellectual disabilities. J Intellect Disabil
2006; 50:269-276.
14.Ross E, Oliver C. The assessment of mood in adults who have severe or
profound mental retardation. Clin Psychol Rev 2003; 23:225-245.
15.Tsiantis J, Diareme S, Dimitrakaki C, et al. Care staff awareness training on
mental health needs of adults with learning disabilities: results from a Greek
sample. J Learn Disabil 2004; 8:221-234.
16.Ferron FR, Kern CA, Hanson RH, Wiesler NA. Psychiatric diagnosis in mental
retardation. In: Wieseler NA, Hanson RH, editors. Challenging behavior of
person with mental health disorders and severe developmental disabilities.
Washington, DC: American Association on Mental Retardation; 1999. pp. 3-
12.
17.Gardner WI. Aggression and other disruptive behavioural challenges:
biomedical and psychosocial assessment and treatment. Kingston, NY: NADD
Press; 2002.
18.Feldman MA, Griffiths D. Comprehensive assessment of severe behavior
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CA: Brooks/Cole Publishing Company; 1997. pp. 23-48.
19.Rush AJ, Frances A. Expert consensus guideline series: treatment of
psychiatric and behavioural problems in mental retardation. Am J Ment
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20.O'Neill RE, Horner RH, Albin RW, et al. Functional analysis of problem
behavior: a practical assessment guide. 2nd ed. Pacific Grove, CA:
Brooks/Cole; 1997.
21.* Weber KP, Killu K, Derby KM, Barretto A. The status of functional behavioral
assessment (FBA): adherence to standard practice in FBA methodology.
Psychol Schools 2005; 42:737-744. On the basis of their survey of the
practice of conducting FBAs in school in the 50 states, the authors concluded
that many school districts are not keeping up with standards of practice in
the area of FBA.
22.** Van Acker R, Boreson L, Gable RA, Potterton T. Are we on the right course?
Lessons learned about current FBA/BIP practices in schools. J Behav Educ
2005; 14:35-56. Provides a listing of frequently observed problems and errors
found in individualized behaviour plans and FBAs done in schools. The
authors also provide useful resources to avoid these errors.
23.Durand MV, Crimmins DB. Identifying the variables maintaining self-injurious
behaviors. J Autism Dev Disord 1988; 18:99-117.
24.Matson JL, Vollmer TR. User's guide: questions about behavioral function
(QABF). Baton Rouge, LA: Scientific Publishers Inc; 1995/2000.
25.** Hall SS. Comparing descriptive experimental and informant-based
assessments of problem behaviors. Res Dev Disabil 2005; 26:514-526.
26.* Scott TM, Liaupson C, Nelson CM, McIntyre J. Team-based functional
behavior assessment as a proactive public school process: a descriptive
analysis of current barriers. J Behav Educ 2005; 14:57-71. This study
reviewed the work of a number of school-based FBA teams and concluded
that the school personnel in their sample lacked the knowledge base and
skills to conduct comprehensive FBAs and develop effective behaviour
intervention plans.
27.** Noone SJ, Jones RSP, Hastings RP. Care staff attributions about challenging
behaviors in adults with intellectual disabilities. Res Dev Disabil 2006;
27:109-120.
28.** McLaughlin DM, Carr EG. Quality of rapport as a setting event for problem
behavior. J Positive Behav Intervent 2005; 7:68-91. The authors
demonstrated that an intervention aimed solely at improving the quality of
rapport between a client and the staff resulted in a decrease in the client's
problem behaviour.
 29.** McClean B, Dench C, Grey I, et al. Person focused training: a model for
delivering positive behaviour supports to people with challenging behaviours.
J Intellect Disabil Res 2005; 49:340-352.
30.** Wacker D, Berg WK, Harding JW, et al. Treatment effectiveness, stimulus
generalization, and acceptability to parents of functional communication
training. Educ Psychol 2005; 25:233-256. These authors reported on the
successful training of parents to conduct FBAs and implement effective
behavioural intervention plans in their homes with their children.
31.Schalock RL, Luckasson R. Clinical judgment. Washington, DC: American
Association on Mental Retardation; 2005.
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Authors and Disclosures

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Author(s)
Marc J Tassé, PhD
Marc J. Tassé, PhD, Associate Professor of Psychiatry, University of North Carolina at Chapel
Hill

Disclosure: Disclosure: Marc J. Tassé, PhD, has disclosed no relevant financial relationships.
CME Author(s)
Désirée Lie, MD, MSEd
Clinical Professor, Family Medicine, University of California, Orange; Director, Division of
Faculty Development, UCI Medical Center, Orange, California

Disclosure: Désirée Lie, MD, MSED, has disclosed no relevant financial relationships.
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CME Released: 10/04/2006; Valid for credit through 10/04/2007
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Target Audience
This review is targeted toward primary care clinicians, psychiatrists, psychologists,
developmental specialists, and other specialists who care for individuals with intellectual
disabilities.
Goal
The goal of this review is to update clinicians on successful approaches to changing and
improving problem behaviors in individuals with intellectual disabilities and the principles
underpinning these approaches.
Learning Objectives
Upon completion of this activity, participants will be able to:
1. Describe the prevalence of mental and behavioral problems in persons with
intellectual disabilities
2. Define the differences between the behavior modification and the positive
behavior support (PBS) approach to problem behaviors
3. Describe the process involved in functional behavioral assessment (FBA)
4. List components of the multimethod approach to assessing behavioral
problems
5. Identify factors that improve suppression of problem behaviors in those with
intellectual disabilities
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Contents of Functional Behavioural Assessment in People With Intellectual
Disabilities [Mental Retardation and Developmental Disorders]

1. Functional Behavioural Assessment in People With Intellectual

Disabilities [Mental Retardation and Developmental Disorders]

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Correspondence to: Marc J. Tassé PhD, Associate Professor of Psychiatry,University of North

Carolina at Chapel Hill, CB #7255, Chapel Hill,NC 27599-7255, USA. Tel: +1 919 966 4647.
Fax: +1 919 966 2230. E-mail: marc.tasse@cdl.unc.edu
Abbreviation Notes

ABA = applied behaviour analysis; FBA = functional behavioural assessment; PBS = positive
behaviour support; QABF = Questions About Behavioural Function
Curr Opin Psychiatry CME. 2006;19(5):475-480. © 2006 Lippincott Williams & Wilkins
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• Contents of This Activity

Contents of Functional Behavioural Assessment in People With Intellectual
Disabilities [Mental Retardation and Developmental Disorders]
1. Functional Behavioural Assessment in People With Intellectual
Disabilities [Mental Retardation and Developmental Disorders]
• CME Information

Mental Retardation
Author: Ari S Zeldin, MD, FAAP, Senior Clinical Fellow/Clinical Instructor in Autism and
Neuro-Developmental Disorders, Division of Pediatric Neurology, Department of
Neurosciences, University of California, San Diego, School of Medicine
Coauthor(s): Alicia T F Bazzano, MD, MPH, Consulting Faculty, Division of Pediatric
Emergency Medicine, Harbor/UCLA Medical Center; Attending Staff, Department of
Emergency Medicine, Children's Hospital Los Angeles; Chief Physician, Westside Regional
Center
Contributor Information and Disclosures
Updated: Nov 10, 2010

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• Overview
• Differential Diagnoses & Workup
• Treatment & Medication
• Follow-up
• References
• Keywords

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Introduction
Background
Mental retardation (MR) or intellectual disability (ID) is a descriptive term for subaverage
intelligence and impaired adaptive functioning arising in the developmental period (<18 y).
MR/ID and other neurodevelopmental disabilities are seen often in a general pediatric practice.

Terminology for MR/ID has been particularly challenging as the term mentally retarded carries
significant social and emotional stigma. The American Association for Intellectual and
Developmental Disability (AAIDD) has been particularly influential in terminology changes
such that most professionals working in the field now refer to mental retardation as intellectual
disability. The DSM-V is expected to adopt this new terminology.1

Developmental delay is often used inappropriately as synonymous with MR/ID. Developmental

delay is an overly inclusive term and should generally be used for infants and young children (<
5 y) in which the diagnosis is unclear, such as those too young for formal testing.1

Approximately 10% of children have some learning impairment, while as many as 3% manifest
some degree of MR/ID. The population prevalence of these combined disorders of learning rivals
that of the common childhood disorder asthma.

MR/ID originates during the developmental period (ie, conception through age 18 years) and
results in significantly subaverage general intellectual function with concurrent deficits in
functional life skills. The diagnosis of MR/ID requires an intelligence deficit of at least 2
standard deviations (SDs) below the mean IQ. This generally translates into an intelligence
quotient (IQ) score of 70-75, given a population mean of 100. Equivalent deficits in at least 2
areas of functional life skills or adaptive skills also must be present to meet the diagnostic criteria
for MR/ID. Adaptive skills encompass functional life skills within the domains of
communication, self-care, home living, social and interpersonal skills, use of community
resources, self-direction, functional academic skills, work, leisure, health, and safety.
MR/ID is currently categorized broadly as follows.2
Table 1. Intellectual disability categorization
Open table in new window
[ CLOSE WINDOW ]

Table
IQ
score* Proportio Intensity of Prevalence
Catego Educational
(SD n of supports in total
ry level/adaptive skills
below MR/ID required population
mean)

Mild 50-55 85% Up to about 6th Intermittent, 0.9-2.7%

to 70 grade; vocational especially under
(2-3) stress

Moderat 35-40 10% up to about 2nd Limited; 0.3-0.4%

e to 50- grade; unskilled or usually supervised
55 semi-skilled,
(3-4) supervised

Severe 20-25 4% May learn words; Extensive; closely

to 35- elementary self-care supervised group
40 skills or family home
(4-5)

Profoun <20-25 1% Little to no self-care Constant aid and

d (>5) skills supervision

*IQ scores are considered +/-5 points due to measurement error.

IQ
score* Proportio Intensity of Prevalence
Catego Educational
(SD n of supports in total
ry level/adaptive skills
below MR/ID required population
mean)

Mild 50-55 85% Up to about 6th Intermittent, 0.9-2.7%

to 70 especially under
 (2-3) grade; vocational stress

Moderat 35-40 10% up to about 2nd Limited; 0.3-0.4%

e to 50- grade; unskilled or usually supervised
55 semi-skilled,
(3-4) supervised

Severe 20-25 4% May learn words; Extensive; closely

to 35- elementary self-care supervised group
40 skills or family home
(4-5)

Profoun <20-25 1% Little to no self-care Constant aid and

d (>5) skills supervision

*IQ scores are considered +/-5 points due to measurement error.

The DSM-V is widely expected to change the definition of MR/ID, relying less on specific IQ
levels.3 IQ scores can vary based on age, instrument, and practitioner. Furthermore, testing prior
to school age does not correlate well with future performance. IQ scores can be measured using
assessment instruments, such as the Stanford-Binet, Wechsler Adult Intelligence Scale (WAIS),
or Wechsler Intelligence Scale for Children (WISC-IV). Nonverbal children can be tested with
the Leiter International Performance Scale (Leiter-R).
The second component of diagnosis, adaptive skills, is usually measured with a self-reported or
parent/caregiver-reported inventory, such as the Vineland Adaptive Behavior Scales, Second
Edition (VABS-II). The DSM-V diagnosis is expected to require adaptive measurements of less
than 2 SDs as compared to the population mean, with standard scores of 70 or less, in at least 2
of the following domains:3
• Conceptual skills (communication, language, time, money, academic)
• Social skills (interpersonal skills, social responsibility, recreation, friendships)
• Practical skills (daily living skills, work, travel)
MR/ID also can be categorized as syndromic, if associated with dysmorphic features, or
nonsyndromic, if not associated with dysmorphisms or malformations. The understanding of
specific MR/ID syndromes is expanding with recent molecular genetic advances. More than 800
recognized syndromes listed in the Online Mendelian Inheritance in Man (OMIM) database are
associated with MR/ID, reflecting clinical diagnostic advances in the field. The most common
associated chromosomal abnormality is trisomy 21, or Down syndrome. The most common X-
linked abnormality associated with MR/ID is fragile X syndrome. However, for most cases of
MR/ID, no specific genetic abnormalities are found.
Some forms of MR/ID are due to nongenetic factors and may be identifiable by their associated
dysmorphisms and clinical presentation. Examples include prenatal exposure to teratogens (eg,
anticonvulsants, warfarin, alcohol) or prenatal thyroid dysfunction. Prenatal and postnatal
exposure to lead and the associated decrement in IQ may increase an individual's chance of
functioning in the MR/ID range.
Pathophysiology
MR/ID is the end result of many disorders of CNS function. Most individuals with significant
intellectual impairment have no discernible structural abnormalities of the brain. CNS
malformations, a visual correlate of the disorders, are diagnosed in 10-15% of cases; dysfunction
is localized primarily to the cortical structures, including the hippocampus and the medial
temporal cortex. The most common malformations consist of neural tube defects,
hydranencephaly, and microcephaly. Less commonly, CNS malformations include disorders of
migration (the lissencephalies) and agenesis of the corpus callosum.
Multiple congenital anomaly syndromes with malformations confined to nonneurologic organ
systems may be present in 5% of all patients with MR/ID. Between 3% and 7% of cases may be
associated with a wide array of inborn errors of metabolism complicated by multiorgan system
disease. Alcohol exposure in utero may account for as many as 8% of those with mild MR/ID.
Most individuals with mild MR/ID and other learning disorders do not have other neurologic
complications, CNS malformations, or dysmorphisms. They are more likely, however, to be born
into families of low socioeconomic status, low IQ, and little education. The etiologic
contribution of poverty to their poor cognitive function remains unclear. Clearly, however, poor
cognitive functioning and MR are correlated positively with a life of poverty.
Frequency
United States
The frequency of MR/ID of all degrees ranges from 1.6-3% of the population. The statistical
definition of subaverage intelligence (2 SDs below the mean) would indicate a predicted
prevalence of 2.5%.
International
A study with excellent ascertainment conducted in Aberdeen, Scotland, yielded a prevalence of 1
in 300 for severe MR and 1 in 77 for mild MR. Among those with severe MR were more boys
than girls (male-to-female ratio 1.2:1), and among those with IQ >70, in the mild range of
deficiency, boys exceeded girls by a ratio of 2.2:1.4
Although prevalence rates vary from country to country, the variance in prevalence may be
attributed to ascertainment bias, the standardization methods employed from study to study, and
a generalized upward drift in IQ scores over time. Even so, the greatest variance in statistics of
prevalence is most likely to fall within the category of mild MR, a group for which the
ascertainment bias is large.
Mortality/Morbidity
• MR/ID itself is not necessarily associated with an increased premature death
rate. However, individuals with severe to profound MR/ID experience a
decreased life expectancy related to the underlying etiology or additional
complicating neurologic disorders, such as epilepsy. Neurologic dysfunction
resulting in immobility, significant oral motor incoordination, dysphagia, and
aspiration confers a greater risk of premature death than MR/ID itself. When
significant neurologic dysfunction is associated with other organ system
anomalies, an individual's life expectancy is shortened further.
• Respiratory disease is the most prevalent cause of death among individuals
with profound MR/ID. In particular, respiratory infections were the leading
cause of death among a Finnish cohort of children with MR/ID.5 For those
 affected by mild MR/ID, life expectancy does not differ from that of the
general population.
• Comorbid psychiatric conditions are diagnosed more frequently in those with
intellectual disabilities than in the general population. Even so, psychiatric
disorders probably are underappreciated in this population.
○ Attention deficit/hyperactivity disorder (ADHD) is diagnosed in 8-15%
of children and 17-52% of adults with MR.
○ Self-injurious behaviors require treatment in 3-15%, particularly in the
severe range of MR/ID.
○ Major depression, bipolar disorders, anxiety disorders, and other mood
disorders are the most common psychiatric diagnoses in adults with
MR/ID. Obsessive-compulsive disorder, conduct disorder, tic disorders,
and other stereotypic behaviors are also diagnosed more commonly in
those with MR/ID. Schizophrenia may have a prevalence of 3% in
individuals with MR/ID, compared to 0.8% in the general population.
• In the 1970 Isle of Wight study, as many as 30% of children with MR/ID
exhibited an emotional or behavioral disorder, compared to 6% of children in
the general population. MR compounded by epilepsy conferred a 56% risk of
comorbid psychiatric disease in this study.6
• Occult visual and auditory deficits occur in 50% of those with MR/ID,
particularly when refractive errors are considered.
• The rates of transmittable diseases, including sexually transmitted diseases
(STDs), hepatitis B, and Helicobacter pylori infection, are increased
significantly among individuals with MR/ID.
• One in 5 individuals with MR/ID also has cerebral palsy (CP).
• As many as 20% of individuals with MR/ID have seizures.
• GI complications with MR/ID include feeding dysfunction, excess drooling,
reflux esophagitis, and constipation.
• GU complications with MR/ID include urinary incontinence and poor menstrual
hygiene.
• A profound social morbidity affects individuals with MR/ID and their families.
This morbidity can be measured in lost wages, dependence on social
services, impaired long-term relationships, and emotional suffering.
Race
Consistent racial differences in prevalence of MR/ID and associated mortality rates are not
known to exist.
Sex
The gender ratios for mortality and morbidity do not differ from the gender ratio noted in the
severe/profound ranges of intellectual disability (ie, male-to-female ratio, 1.2:1).
Age
MR/ID refers to intellectual impairment that develops prior to the age of 18 years.
Certain syndromes associated with MR/ID, such as Down syndrome, are associated with shorter
life expectancy than the general population. In a comparison of those with MR/ID with and
without Down syndrome from the California Department of Developmental Services cohort,
excess mortality in the Down syndrome group tended to decrease with advancing age up to 35-
39 years but increased thereafter. The increase in death rate from age 40 years was steeper in
patients with Down syndrome than in those without Down syndrome.7

Clinical
History
Presenting signs/symptoms

The presenting symptoms and signs of MR/ID typically include cognitive skills delays, language
delay, and delays in adaptive skills. Developmental delays vary depending on the level of MR/ID
and the etiology. For example, in mild nonsyndromic MR/ID, delays may not be notable until the
preschool years, whereas with severe or profound MR associated with syndromes or extreme
prematurity, for example, significant delays in milestones may be noted from birth.
• Language delay: One of the first signs of MR/ID may be language delays,
including expressive language (speech) and receptive language
(understanding). Red flags include no mama/dada/babbling by 12 months, no
2-word phrases by age 2, and parents reporting they are concerned that the
child may be deaf.
• Fine motor/adaptive delay
○ Significant delays in activities such as self-feeding, toileting, and
dressing are typically reported in children with MR/ID.
○ Prolonged, messy finger feeding and drooling are signs of oral-motor
incoordination.
• Cognitive delay: Children with MR/ID have difficulties with memory, problem-
solving and logical reasoning. This may be expressed early on with
preacademic difficulties or difficulty following directions (particularly
multipart directions).
• Social delays: Children with MR may display lack of interest in age-
appropriate toys and delays in imaginative play and reciprocal play with age-
matched peers. Rather than their chronological age, play reflects their
developmental levels.
• Gross motor
○ Delays in gross motor development infrequently accompany the
cognitive, language, and fine motor/adaptive delays associated with
MR/ID unless the underlying condition results in both MR/ID and
cerebral palsy.
○ Subtle delays in gross motor acquisition, or clumsiness, may be
identified in the developmental assessment.
• Behavioral disturbances
 ○ Even before an age at which psychopathology can be identified, infants
and toddlers who go on to have MR/ID may be more likely to have
difficult temperaments, hyperactivity, disordered sleep, and colic.
○ Associated behaviors may include aggression, self-injury, defiance,
inattention, hyperactivity, sleep disturbances, and stereotypic
behaviors.
• Neurologic and physical abnormalities
○ Prevalence of MR is increased among children with seizure disorders,
microcephaly, macrocephaly, history of intrauterine or postnatal
growth retardation, prematurity, and congenital anomalies.
○ In the process of addressing somatic problems, assessment of a child's
cognitive abilities is often overlooked.
Family history

Guidelines from the American Academy of Pediatrics recommend that the evaluation of a child
with MR/ID includes an extensive family history, with particular attention to family members
with mental retardation, developmental delays, consanguinity, psychiatric diagnoses, congenital
malformations, miscarriages, stillbirths, and early childhood deaths. The clinician should
construct a pedigree of 3 generations or more.8
Physical
• Developmental assessment
○ The American Academy of Pediatrics recommends developmental
screening for all children at regular intervals. Methods include several
parental surveys, such as the Parents' Evaluation of Developmental
Status (PEDS), Ages and Stages Questionnaires (ASQ) and Child
Development Inventories (CDI). Other instruments require direct
observation, such as the Bayley Infant Neurodevelopmental Screener,
Battelle Developmental Inventory, Early Language Milestone Scale, and
Brigance Screens.
○ Key behavioral observations should focus on the child's communicative
intent, social skills, eye contact, compliance, attention span,
impulsivity, and style of play.
○ For the diagnoses of developmental delay and MR/ID, an expanded
neurodevelopmental and psychological examination is required.
Various tests can be administered to assess language comprehension,
language expression, nonverbal cognitive abilities, fine motor and
adaptive abilities, attention span, memory, gross motor skills, and
adaptive behaviors. The most common psychological tests for children
include the Bayley Scales of Infant Development-III, the Stanford-Binet
Intelligence Scale, the Wechsler Intelligence Scale for Children-IV, the
Wechsler Preschool and Primary Scale of Intelligence-Revised, and the
Vineland Adaptive Behavior Scales-II.
• Physical examination
○ Head circumference: Measurement of all growth parameters must
include head circumference. Microcephaly correlates highly with
 cognitive deficits. Macrocephaly may indicate hydrocephalus and is
associated with some inborn errors of metabolism and may also be
seen early on in some children later diagnosed with autism.9,10
○ Height: Short stature may suggest a genetic disorder, fetal alcohol
syndrome, or hypothyroidism. Tall stature may suggest fragile X
syndrome (FraX), Soto syndrome, or other overgrowth syndrome
associated with MR/ID.
○ Neurologic: This examination should include assessments of head
growth (for micro/macrocephaly), muscle tone (for hypotonia or
spasticity), strength and coordination, deep tendon reflexes, persistent
primitive reflexes, ataxia, and other abnormal movements such as
dystonia or athetosis.
○ Sensory: Vision and hearing should always be tested in suspected
cases of MR/ID. Children with disabilities and MR/ID are more likely
than other children to have visual impairment (refractive errors,
strabismus, amblyopia, cataracts, abnormal retinal pigmentation, and
cortical blindness) and hearing deficits, particularly among those with
severe impairments.
○ Skin: Cutaneous findings of etiologic interest include hyperpigmented
and hypopigmented macules, such as café-au-lait macules (associated
with neurofibromatosis type 1), and ash-leaf spots (associated with
tuberous sclerosis), fibromas, and irregular pigmentation patterns.
○ Extremities: Examine for dysmorphic features and organ system
dysfunction indicative of syndromes. Although MR/ID with multiple
congenital anomalies and major malformations accounts for only 5-
10% of all cases, most of these affected individuals have 3-4 minor
anomalies, especially involving the face and digits.
Causes
• Prenatal conditions (genetic)
○ Trisomy 21 or Down syndrome
 This disorder accounts for 25-50% of persons with severe MR;
Down syndrome occurs in approximately 1 per 800 live births.
 In infancy, this disorder is recognized by specific facial features,
including flat facial profile, brachycephaly, up-slanted and
narrow palpebral fissures, and anomalous auricles.
 Hypotonia, joint hyperextensibility, neonatal jaundice, simian
crease, shortened digits, and excess skin on the back of the
neck contribute to the clinical features.
 Congenital heart disease is present in approximately 40%. GI
malformations are present in 5%. Congenital cataracts are found
in 3%, and as many as 35% require treatment for strabismus or
refractive error. Infantile spasms may develop in 5%.
 The IQ score ranges from 25-50. Generally, verbal-linguistic
skills lag behind visual-spatial skills and social performance is
usually above the mental age.
  In trisomy 21, gene expression of chromosome 21 is increased
in a dosage-dependent fashion that varies by tissue type. While
some trisomic 21 genes are not expressed at elevated levels,
many are. Of those significantly increased, several encode
proteins critical for mitochondrial function and for neurogenesis.
○ Other chromosomal abnormalities (eg, deletions, duplications,
translocations) may be present in as many as 25% of individuals with
severe MR.
 The most commonly occurring abnormalities of this class,
detectable at the 500 band level of chromosomal analysis, are
5p- (ie, Cri du chat syndrome) and 4p- (ie, Wolf-Hirschhorn
syndrome).
 Cryptic subtelomeric deletions are diagnosed with increasing
frequency as fluorescently tagged molecular DNA probes allow
detection of deletions below the microscopic resolution of a
standard karyotype.
 Cryptic subtelometric rearrangements now account for 5-6% of
cases of idiopathic mental retardation.
 Chromosomal analysis is undergoing further refinement with the
application of gene array hybridization techniques that may
detect abnormalities in up to 20% of cases of idiopathic mental
retardation.
○ Fragile X syndrome
 The population prevalence of this disorder is approximately 1 in
3500 males, giving a prevalence within the MR population of
about 1 in 76. For males with severe MR, the prevalence rises to
about 1 in 13. Other studies have found in populations of those
with mental retardation positive fragile X studies in 5.9% of
males and 0.3% of females.11 About 1 in 2000 females carries
the fragile X (FraX) gene. Current studies suggest that FraX is
the most prevalent form of inherited MR.
 Males with the full FMR1 trinucleotide repeat expansion (ie, the
full mutation) usually function in the moderate to severe range
of MR.12 Other features include testicular enlargement in the
postpubertal period and minor facial anomalies (eg, large
forehead, elongated face, protuberant auricles, prominent chin).
 Females with the full FMR1 trinucleotide repeat expansion may
have no symptoms, although some have mild learning
disabilities or even mild to moderate MR.
 Mitral valve prolapse and seizures may occur.
 Up to 20% of FraX males meet criteria for autism; autisticlike
behaviors can be present in affected females as well.
 Direct DNA analysis of the FMR-1 gene is the method of choice
for diagnosing both affected individuals with the full
 trinucleotide repeat expansion (>200 repeats) and unaffected
carriers with the premutation (60-200 repeats).
• Contiguous gene deletion syndromes
○ Although less common, some of these syndromes can be readily
identified clinically. The following syndromes often can be confirmed
by utilizing a fluorescence in situ hybridization (FISH) probe to the
deleted region in question.
○ Prader-Willi syndrome
 The Prader-Willi syndrome (PWS) involves deletion at 15q11-q13
(deletion of the paternally derived region).
 Classic clinical features include neonatal and infantile hypotonia,
feeding problems or failure to thrive in infancy, excessive weight
gain with hyperphagia beginning between ages 12 months and 6
years, food compulsions, hypogonadism, global developmental
delay, almond-shaped eyes, thin upper lip, and down-turned
corners of the mouth.
 The candidate gene within the Prader-Willi gene region is
SNRPN, which encodes a ribonucleoprotein involved in mRNA
splicing. How SNRPN contributes to the hypothalamic
dysfunction that defines many clinical features of PWS is
unclear.
 It is the first known human disorder of genomic imprinting,
leading to revolutionary changes in the field of molecular
genetics and the understanding of uniparental disomy.
 Negative FISH results in PWS may be due to maternal
uniparental disomy (UPD) of chromosome 15 (2 number 15
chromosomes from the mother) and can be confirmed with
molecular studies.
○ Angelman syndrome
 The Angelman syndrome (AS) also involves deletion at 15q11-
q13 (deletion of the maternal copy of the gene region).
 MR, absent speech, microcephaly, seizures, puppetlike ataxic
movements, inappropriate laughter, and facial dysmorphisms
characterize AS.
 The candidate genes within the AS critical region include UBE3A,
whose protein product is important in the posttranslational
modification of proteins by ubiquitination, and GABRA3, a
subunit of the GABAa receptor.
 Negative FISH results in AS may be due to paternal UPD of
chromosome 15 (2 number 15 chromosomes from the father)
and can be confirmed with molecular studies.
 Point mutations occasionally are found in AS with negative
results on FISH and UPD studies.
○ Smith-Magenis syndrome
  Smith-Magenis syndrome (SMS) involves deletion at 17p11.2.
 MR, short stature, brachydactyly, minor skeletal and facial
anomalies, sleep disturbance, self-injurious behaviors, and other
organ system malformations characterize this contiguous gene
deletion syndrome.13
 Although as many as 100 genes may be deleted in SMS, the
physical characteristics are subtle.
○ CATCH 22 syndrome
 The CATCH 22 syndrome, which comprises DiGeorge Syndrome
(DGS) and velocardiofacial syndrome (VCF), involves deletion at
22q11.
 Infants with classic DGS are identified readily by aplasia or
hypoplasia of the thymus, T cell lymphopenia, conotruncal
cardiac defects, oral-motor dysfunction, and facial
dysmorphisms (eg, low-set malformed ears, small jaw, palatal
defects, hypertelorism, antimongoloid palpebral slant).
 Minor variants may meet clinical criteria for the VCF syndrome.
With a prevalence of 1 in 4,000 people, it is the most common
known microdeletion disorder.
 The majority of individuals with CATCH 22 have learning
disabilities or mild MR and comorbid psychiatric disorders
including schizophrenia and mood disorders with psychosis.
○ Williams syndrome
 The Williams syndrome involves deletion at 7q11.14
 Characteristic facial features are described as "elfin." In the
majority, valvular stenosis, poor growth, hypotonia, late-onset
contractures, dental anomalies, infantile colic, oral-motor
discoordination, and hyperacusis (ie, hypersensitivity to sound)
are reported. Infantile hypercalcemia may be transient and is
often subclinical.
 Mild to moderate MR, relative preservation of language, and
associated weakness in visual-spatial development are typical.
 Elastin is the candidate gene presumed responsible for some of
Williams syndrome features, including supravalvular aortic
stenosis.
○ Wolf-Hirschhorn syndrome
 The Wolf-Hirschhorn syndrome, also known as 4p- syndrome,
involves deletion at 4p16.3.
 Severe growth retardation, microcephaly, "Greek helmet" facies
and orofacial clefts, and other midline fusion defects
characterize this syndrome.
 The region of deletion is gene dense, and an undefined number
of genes may contribute to this phenotype.
 ○ Langer-Giedion syndrome
 This syndrome, also known as trichorhinophalangeal syndrome
type II, involves deletion at 8q24.1.
 Learning disabilities and the presence of MR vary.
 Facial dysmorphisms include microcephaly, large ears, bulbous
nose, broad nasal bridge, elongated philtrum, and sparse scalp
hair. Multiple nevi and skeletal anomalies may be present.
○ Miller-Dieker syndrome
 The Miller-Dieker syndrome (MDS) involves deletion at 17p13.3.
 Infants present with severe neurologic impairment, seizures, and
hypotonia secondary to lissencephaly. The smooth cerebral
cortex with absent or decreased gyral formation results from
abnormal neuronal migration.
 The identified gene LIS1 may function as a G protein subunit in
cellular signal transduction that is important in telencephalon
development.
○ Many contiguous gene deletion syndromes for which a FISH probe is
not available have been recognized in association with MR. A
comprehensive survey is beyond the scope of this article.
• Single gene mutation syndromes
○ Tuberous sclerosis
 Hypopigmented cutaneous macules (ie, ash-leaf spots), calcified
intracranial cortical tubers with or without heterotopias,
seizures, retinal hamartomas, and renal angiomyolipomas
characterize this hamartomatous condition.
 MR may or may not be seen in affected individuals; the presence
of seizures is the factor most associated with poor cognitive
outcome. Autism is a rather common finding in children with
tuberous sclerosis associated with MR.
 This is an autosomal-dominant inherited condition with about
half of affected individuals resulting from a new mutation. Two
genes have been identified, one at 9q34 (TSC1) and the other at
16p13 (TSC2). A variety of deletions, rearrangements, and point
mutations have been implicated in tuberous sclerosis.
○ Rubinstein-Taybi syndrome
 Broad terminal phalanges, beaked nose, down-slanting palpebral
fissures, epicanthal folds, and microcephaly characterize this
syndrome.
 Behavioral aspects include variable degrees of impulsivity,
distractibility, instability of mood, and stereotypies.15
 This is an autosomal-dominant inherited condition, with the
majority of cases representing new deletions or point mutations
of the CREB-binding protein gene (16p13.3).
 ○ Coffin-Lowry syndrome
 This syndrome is characterized by hypertelorism, down-slanting
palpebral fissures, frontal prominence, thickened lips and nasal
septum, as well as dental and skeletal anomalies.
 It is an X-linked condition, with females having mild
manifestations. The syndrome results from mutations in the
RSK2 gene, which encodes a CREB kinase (Xp22.2-p22.1).16
○ Rett syndrome
 Developmental stagnation then regression, progressive
microcephaly, seizures, ataxia, and autisticlike behaviors are
seen in affected females.
 This X-linked dominant condition with presumed lethality for
affected males is caused by mutations in MeCP2, a
transcriptional repressor (Xq28).17
○ Smith-Lemli-Opitz syndrome
 Malformations consistent with holoprosencephaly sequence,
syndactyly of toes 2 and 3, micrognathia, cleft palate, and
moderate to severe MR are seen.
 This autosomal-recessive inherited condition results from
increases in 7-dehydrocholesterol (7-DHC) due to mutations in
the 7-DHC reductase gene (11q12-q13).
 Treatment with an oral cholesterol "cocktail" has shown some
promise in this syndrome.
○ Costello syndrome
 Characteristic clinical features include polyhydramnios, failure to
thrive, cardiac anomalies, and tumor predisposition.
 Mean IQ is in the mild MR range, but the spectrum extends from
severe MR to average intelligence. Affected males are lower
functioning than females and have significantly more behavioral
problems.18
 Mutation in HRAS is identified, resulting in a gain of function of
the encoded protein and increased activation of the cellular
signaling pathway Ras-MAPK.19
○ Many other single-gene disorders are associated with MR with
additional phenotypic and behavioral features including such problems
as microcephaly, seizures, or short stature, with or without dysmorphic
facies.
• Recent advances in genetic linkage analysis techniques in families with
multiple affected members have revealed more than 50 candidate genes
along the X chromosome. In some kindreds with a pattern of X-linked
nonsyndromic mild MR (XLMR), linkage analysis has identified candidate
genes that code for interleukin receptors, G protein signaling factors,
transcription factors, and transcriptional repressors.
• Environmental causes
 ○ Fetal alcohol syndrome and fetal alcohol effect
 Alcohol results in a wide range of teratogenic effects.20 The most
severely affected individuals meet criteria for fetal alcohol
syndrome (FAS) by demonstrating short palpebral fissures,
dental crowding, camptodactyly flattened philtrum, thin
vermillion border, flattening of the maxillary area,
microphthalmia, prenatal and postnatal growth deficiency,
microcephaly, and developmental delay.
 Fetal alcohol effect (FAE) can be diagnosed only in the context
of (1) maternal history of alcohol use and (2) a child with
developmental and behavioral abnormalities that also manifests
growth deficiency or the characteristic facial dysmorphisms.
 The prevalence of FAS may be as high as 1.9 in 1000 live births
and is the leading cause of MR in the western world. The impact
of the milder FAE remains unknown. The teratogenic effects of
alcohol may be responsible for as many as 8% of cases of mild
MR. Alcohol's deleterious effects on cortical plasticity contribute
to cognitive impairment.
○ Congenital hypothyroidism
 Congenital hypothyroidism (known as cretinism in the past) is a
neurologic syndrome that results from severe thyroid hormone
deficiency during the fetal period. In the infant, the syndrome
comprises deaf mutism, moderate to severe MR, spasticity, and
strabismus.
 Normal fetal brain development requires sufficient production of
both maternal and fetal thyroid hormones. Normal glandular
production of T4 and T3 requires sufficient dietary intake of
iodine.
 Iodine deficiency may affect an estimated 800 million people
worldwide. It can result in endemic goiter, fetal wastage, milder
degrees of developmental delay, and endemic congenital
hypothyroidism.
• Perinatal/postnatal conditions: These conditions are responsible for fewer
than 10% of all MR cases.
○ Congenital cytomegalovirus (CMV)
○ Congenital rubella - No longer an important etiology in countries with
high vaccination rates
○ Intraventricular hemorrhage related to extreme prematurity - An
important cause only in societies with advanced neonatal care and
survival of the premature
○ Hypoxic-ischemic encephalopathy - Always results in combined CP/MR
○ Traumatic brain injury - Shaken baby syndrome, closed head injury
sustained in motor vehicle accidents
 ○ Meningitis - Decreasing in importance as the incidence of Haemophilus
influenzae type B decreases in vaccinated populations
○ Trichomoniasis during pregnancy21
○ Neurodegenerative disorders

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eMedicine Specialties > Neurology > Pediatric Neurology

Mental Retardation
Author: Ari S Zeldin, MD, FAAP, Senior Clinical Fellow/Clinical Instructor in Autism and
Neuro-Developmental Disorders, Division of Pediatric Neurology, Department of
Neurosciences, University of California, San Diego, School of Medicine
Coauthor(s): Alicia T F Bazzano, MD, MPH, Consulting Faculty, Division of Pediatric
Emergency Medicine, Harbor/UCLA Medical Center; Attending Staff, Department of
Emergency Medicine, Children's Hospital Los Angeles; Chief Physician, Westside Regional
Center
Contributor Information and Disclosures
Updated: Nov 10, 2010
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• Overview
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Introduction
Background
Mental retardation (MR) or intellectual disability (ID) is a descriptive term for subaverage
intelligence and impaired adaptive functioning arising in the developmental period (<18 y).
MR/ID and other neurodevelopmental disabilities are seen often in a general pediatric practice.

Terminology for MR/ID has been particularly challenging as the term mentally retarded carries
significant social and emotional stigma. The American Association for Intellectual and
Developmental Disability (AAIDD) has been particularly influential in terminology changes
such that most professionals working in the field now refer to mental retardation as intellectual
disability. The DSM-V is expected to adopt this new terminology.1

Developmental delay is often used inappropriately as synonymous with MR/ID. Developmental

delay is an overly inclusive term and should generally be used for infants and young children (<
5 y) in which the diagnosis is unclear, such as those too young for formal testing.1

Approximately 10% of children have some learning impairment, while as many as 3% manifest
some degree of MR/ID. The population prevalence of these combined disorders of learning rivals
that of the common childhood disorder asthma.

MR/ID originates during the developmental period (ie, conception through age 18 years) and
results in significantly subaverage general intellectual function with concurrent deficits in
functional life skills. The diagnosis of MR/ID requires an intelligence deficit of at least 2
standard deviations (SDs) below the mean IQ. This generally translates into an intelligence
quotient (IQ) score of 70-75, given a population mean of 100. Equivalent deficits in at least 2
areas of functional life skills or adaptive skills also must be present to meet the diagnostic criteria
for MR/ID. Adaptive skills encompass functional life skills within the domains of
communication, self-care, home living, social and interpersonal skills, use of community
resources, self-direction, functional academic skills, work, leisure, health, and safety.
MR/ID is currently categorized broadly as follows.2
Table 1. Intellectual disability categorization
Open table in new window
[ CLOSE WINDOW ]

Table
IQ
score* Proportio Intensity of Prevalence
Catego Educational
(SD n of supports in total
ry level/adaptive skills
below MR/ID required population
mean)

Mild 50-55 85% Up to about 6th Intermittent, 0.9-2.7%

to 70 grade; vocational especially under
(2-3) stress

Moderat 35-40 10% up to about 2nd Limited; 0.3-0.4%

e to 50- grade; unskilled or usually supervised
55 semi-skilled,
(3-4) supervised

Severe 20-25 4% May learn words; Extensive; closely

to 35- elementary self-care supervised group
40 skills or family home
(4-5)

Profoun <20-25 1% Little to no self-care Constant aid and

d (>5) skills supervision

*IQ scores are considered +/-5 points due to measurement error.

IQ
score* Proportio Intensity of Prevalence
Catego Educational
(SD n of supports in total
ry level/adaptive skills
below MR/ID required population
mean)

Mild 50-55 85% Up to about 6th Intermittent, 0.9-2.7%

to 70 grade; vocational especially under
(2-3) stress

Moderat 35-40 10% up to about 2nd Limited; 0.3-0.4%

e to 50- grade; unskilled or
 55 semi-skilled, usually supervised
(3-4) supervised

Severe 20-25 4% May learn words; Extensive; closely

to 35- elementary self-care supervised group
40 skills or family home
(4-5)

Profoun <20-25 1% Little to no self-care Constant aid and

d (>5) skills supervision

*IQ scores are considered +/-5 points due to measurement error.

The DSM-V is widely expected to change the definition of MR/ID, relying less on specific IQ
levels.3 IQ scores can vary based on age, instrument, and practitioner. Furthermore, testing prior
to school age does not correlate well with future performance. IQ scores can be measured using
assessment instruments, such as the Stanford-Binet, Wechsler Adult Intelligence Scale (WAIS),
or Wechsler Intelligence Scale for Children (WISC-IV). Nonverbal children can be tested with
the Leiter International Performance Scale (Leiter-R).
The second component of diagnosis, adaptive skills, is usually measured with a self-reported or
parent/caregiver-reported inventory, such as the Vineland Adaptive Behavior Scales, Second
Edition (VABS-II). The DSM-V diagnosis is expected to require adaptive measurements of less
than 2 SDs as compared to the population mean, with standard scores of 70 or less, in at least 2
of the following domains:3
• Conceptual skills (communication, language, time, money, academic)
• Social skills (interpersonal skills, social responsibility, recreation, friendships)
• Practical skills (daily living skills, work, travel)
MR/ID also can be categorized as syndromic, if associated with dysmorphic features, or
nonsyndromic, if not associated with dysmorphisms or malformations. The understanding of
specific MR/ID syndromes is expanding with recent molecular genetic advances. More than 800
recognized syndromes listed in the Online Mendelian Inheritance in Man (OMIM) database are
associated with MR/ID, reflecting clinical diagnostic advances in the field. The most common
associated chromosomal abnormality is trisomy 21, or Down syndrome. The most common X-
linked abnormality associated with MR/ID is fragile X syndrome. However, for most cases of
MR/ID, no specific genetic abnormalities are found.
Some forms of MR/ID are due to nongenetic factors and may be identifiable by their associated
dysmorphisms and clinical presentation. Examples include prenatal exposure to teratogens (eg,
anticonvulsants, warfarin, alcohol) or prenatal thyroid dysfunction. Prenatal and postnatal
exposure to lead and the associated decrement in IQ may increase an individual's chance of
functioning in the MR/ID range.
Pathophysiology
MR/ID is the end result of many disorders of CNS function. Most individuals with significant
intellectual impairment have no discernible structural abnormalities of the brain. CNS
malformations, a visual correlate of the disorders, are diagnosed in 10-15% of cases; dysfunction
is localized primarily to the cortical structures, including the hippocampus and the medial
temporal cortex. The most common malformations consist of neural tube defects,
hydranencephaly, and microcephaly. Less commonly, CNS malformations include disorders of
migration (the lissencephalies) and agenesis of the corpus callosum.
Multiple congenital anomaly syndromes with malformations confined to nonneurologic organ
systems may be present in 5% of all patients with MR/ID. Between 3% and 7% of cases may be
associated with a wide array of inborn errors of metabolism complicated by multiorgan system
disease. Alcohol exposure in utero may account for as many as 8% of those with mild MR/ID.
Most individuals with mild MR/ID and other learning disorders do not have other neurologic
complications, CNS malformations, or dysmorphisms. They are more likely, however, to be born
into families of low socioeconomic status, low IQ, and little education. The etiologic
contribution of poverty to their poor cognitive function remains unclear. Clearly, however, poor
cognitive functioning and MR are correlated positively with a life of poverty.
Frequency
United States
The frequency of MR/ID of all degrees ranges from 1.6-3% of the population. The statistical
definition of subaverage intelligence (2 SDs below the mean) would indicate a predicted
prevalence of 2.5%.
International
A study with excellent ascertainment conducted in Aberdeen, Scotland, yielded a prevalence of 1
in 300 for severe MR and 1 in 77 for mild MR. Among those with severe MR were more boys
than girls (male-to-female ratio 1.2:1), and among those with IQ >70, in the mild range of
deficiency, boys exceeded girls by a ratio of 2.2:1.4
Although prevalence rates vary from country to country, the variance in prevalence may be
attributed to ascertainment bias, the standardization methods employed from study to study, and
a generalized upward drift in IQ scores over time. Even so, the greatest variance in statistics of
prevalence is most likely to fall within the category of mild MR, a group for which the
ascertainment bias is large.
Mortality/Morbidity
• MR/ID itself is not necessarily associated with an increased premature death
rate. However, individuals with severe to profound MR/ID experience a
decreased life expectancy related to the underlying etiology or additional
complicating neurologic disorders, such as epilepsy. Neurologic dysfunction
resulting in immobility, significant oral motor incoordination, dysphagia, and
aspiration confers a greater risk of premature death than MR/ID itself. When
significant neurologic dysfunction is associated with other organ system
anomalies, an individual's life expectancy is shortened further.
• Respiratory disease is the most prevalent cause of death among individuals
with profound MR/ID. In particular, respiratory infections were the leading
cause of death among a Finnish cohort of children with MR/ID.5 For those
affected by mild MR/ID, life expectancy does not differ from that of the
general population.
• Comorbid psychiatric conditions are diagnosed more frequently in those with
intellectual disabilities than in the general population. Even so, psychiatric
disorders probably are underappreciated in this population.
 ○ Attention deficit/hyperactivity disorder (ADHD) is diagnosed in 8-15%
of children and 17-52% of adults with MR.
○ Self-injurious behaviors require treatment in 3-15%, particularly in the
severe range of MR/ID.
○ Major depression, bipolar disorders, anxiety disorders, and other mood
disorders are the most common psychiatric diagnoses in adults with
MR/ID. Obsessive-compulsive disorder, conduct disorder, tic disorders,
and other stereotypic behaviors are also diagnosed more commonly in
those with MR/ID. Schizophrenia may have a prevalence of 3% in
individuals with MR/ID, compared to 0.8% in the general population.
• In the 1970 Isle of Wight study, as many as 30% of children with MR/ID
exhibited an emotional or behavioral disorder, compared to 6% of children in
the general population. MR compounded by epilepsy conferred a 56% risk of
comorbid psychiatric disease in this study.6
• Occult visual and auditory deficits occur in 50% of those with MR/ID,
particularly when refractive errors are considered.
• The rates of transmittable diseases, including sexually transmitted diseases
(STDs), hepatitis B, and Helicobacter pylori infection, are increased
significantly among individuals with MR/ID.
• One in 5 individuals with MR/ID also has cerebral palsy (CP).
• As many as 20% of individuals with MR/ID have seizures.
• GI complications with MR/ID include feeding dysfunction, excess drooling,
reflux esophagitis, and constipation.
• GU complications with MR/ID include urinary incontinence and poor menstrual
hygiene.
• A profound social morbidity affects individuals with MR/ID and their families.
This morbidity can be measured in lost wages, dependence on social
services, impaired long-term relationships, and emotional suffering.
Race
Consistent racial differences in prevalence of MR/ID and associated mortality rates are not
known to exist.
Sex
The gender ratios for mortality and morbidity do not differ from the gender ratio noted in the
severe/profound ranges of intellectual disability (ie, male-to-female ratio, 1.2:1).
Age
MR/ID refers to intellectual impairment that develops prior to the age of 18 years.

Certain syndromes associated with MR/ID, such as Down syndrome, are associated with shorter
life expectancy than the general population. In a comparison of those with MR/ID with and
without Down syndrome from the California Department of Developmental Services cohort,
excess mortality in the Down syndrome group tended to decrease with advancing age up to 35-
39 years but increased thereafter. The increase in death rate from age 40 years was steeper in
patients with Down syndrome than in those without Down syndrome.7
Clinical
History
Presenting signs/symptoms

The presenting symptoms and signs of MR/ID typically include cognitive skills delays, language
delay, and delays in adaptive skills. Developmental delays vary depending on the level of MR/ID
and the etiology. For example, in mild nonsyndromic MR/ID, delays may not be notable until the
preschool years, whereas with severe or profound MR associated with syndromes or extreme
prematurity, for example, significant delays in milestones may be noted from birth.
• Language delay: One of the first signs of MR/ID may be language delays,
including expressive language (speech) and receptive language
(understanding). Red flags include no mama/dada/babbling by 12 months, no
2-word phrases by age 2, and parents reporting they are concerned that the
child may be deaf.
• Fine motor/adaptive delay
○ Significant delays in activities such as self-feeding, toileting, and
dressing are typically reported in children with MR/ID.
○ Prolonged, messy finger feeding and drooling are signs of oral-motor
incoordination.
• Cognitive delay: Children with MR/ID have difficulties with memory, problem-
solving and logical reasoning. This may be expressed early on with
preacademic difficulties or difficulty following directions (particularly
multipart directions).
• Social delays: Children with MR may display lack of interest in age-
appropriate toys and delays in imaginative play and reciprocal play with age-
matched peers. Rather than their chronological age, play reflects their
developmental levels.
• Gross motor
○ Delays in gross motor development infrequently accompany the
cognitive, language, and fine motor/adaptive delays associated with
MR/ID unless the underlying condition results in both MR/ID and
cerebral palsy.
○ Subtle delays in gross motor acquisition, or clumsiness, may be
identified in the developmental assessment.
• Behavioral disturbances
○ Even before an age at which psychopathology can be identified, infants
and toddlers who go on to have MR/ID may be more likely to have
difficult temperaments, hyperactivity, disordered sleep, and colic.
○ Associated behaviors may include aggression, self-injury, defiance,
inattention, hyperactivity, sleep disturbances, and stereotypic
behaviors.
• Neurologic and physical abnormalities
 ○ Prevalence of MR is increased among children with seizure disorders,
microcephaly, macrocephaly, history of intrauterine or postnatal
growth retardation, prematurity, and congenital anomalies.
○ In the process of addressing somatic problems, assessment of a child's
cognitive abilities is often overlooked.
Family history

Guidelines from the American Academy of Pediatrics recommend that the evaluation of a child
with MR/ID includes an extensive family history, with particular attention to family members
with mental retardation, developmental delays, consanguinity, psychiatric diagnoses, congenital
malformations, miscarriages, stillbirths, and early childhood deaths. The clinician should
construct a pedigree of 3 generations or more.8
Physical
• Developmental assessment
○ The American Academy of Pediatrics recommends developmental
screening for all children at regular intervals. Methods include several
parental surveys, such as the Parents' Evaluation of Developmental
Status (PEDS), Ages and Stages Questionnaires (ASQ) and Child
Development Inventories (CDI). Other instruments require direct
observation, such as the Bayley Infant Neurodevelopmental Screener,
Battelle Developmental Inventory, Early Language Milestone Scale, and
Brigance Screens.
○ Key behavioral observations should focus on the child's communicative
intent, social skills, eye contact, compliance, attention span,
impulsivity, and style of play.
○ For the diagnoses of developmental delay and MR/ID, an expanded
neurodevelopmental and psychological examination is required.
Various tests can be administered to assess language comprehension,
language expression, nonverbal cognitive abilities, fine motor and
adaptive abilities, attention span, memory, gross motor skills, and
adaptive behaviors. The most common psychological tests for children
include the Bayley Scales of Infant Development-III, the Stanford-Binet
Intelligence Scale, the Wechsler Intelligence Scale for Children-IV, the
Wechsler Preschool and Primary Scale of Intelligence-Revised, and the
Vineland Adaptive Behavior Scales-II.
• Physical examination
○ Head circumference: Measurement of all growth parameters must
include head circumference. Microcephaly correlates highly with
cognitive deficits. Macrocephaly may indicate hydrocephalus and is
associated with some inborn errors of metabolism and may also be
seen early on in some children later diagnosed with autism.9,10
○ Height: Short stature may suggest a genetic disorder, fetal alcohol
syndrome, or hypothyroidism. Tall stature may suggest fragile X
syndrome (FraX), Soto syndrome, or other overgrowth syndrome
associated with MR/ID.
 ○ Neurologic: This examination should include assessments of head
growth (for micro/macrocephaly), muscle tone (for hypotonia or
spasticity), strength and coordination, deep tendon reflexes, persistent
primitive reflexes, ataxia, and other abnormal movements such as
dystonia or athetosis.
○ Sensory: Vision and hearing should always be tested in suspected
cases of MR/ID. Children with disabilities and MR/ID are more likely
than other children to have visual impairment (refractive errors,
strabismus, amblyopia, cataracts, abnormal retinal pigmentation, and
cortical blindness) and hearing deficits, particularly among those with
severe impairments.
○ Skin: Cutaneous findings of etiologic interest include hyperpigmented
and hypopigmented macules, such as café-au-lait macules (associated
with neurofibromatosis type 1), and ash-leaf spots (associated with
tuberous sclerosis), fibromas, and irregular pigmentation patterns.
○ Extremities: Examine for dysmorphic features and organ system
dysfunction indicative of syndromes. Although MR/ID with multiple
congenital anomalies and major malformations accounts for only 5-
10% of all cases, most of these affected individuals have 3-4 minor
anomalies, especially involving the face and digits.
Causes
• Prenatal conditions (genetic)
○ Trisomy 21 or Down syndrome
 This disorder accounts for 25-50% of persons with severe MR;
Down syndrome occurs in approximately 1 per 800 live births.
 In infancy, this disorder is recognized by specific facial features,
including flat facial profile, brachycephaly, up-slanted and
narrow palpebral fissures, and anomalous auricles.
 Hypotonia, joint hyperextensibility, neonatal jaundice, simian
crease, shortened digits, and excess skin on the back of the
neck contribute to the clinical features.
 Congenital heart disease is present in approximately 40%. GI
malformations are present in 5%. Congenital cataracts are found
in 3%, and as many as 35% require treatment for strabismus or
refractive error. Infantile spasms may develop in 5%.
 The IQ score ranges from 25-50. Generally, verbal-linguistic
skills lag behind visual-spatial skills and social performance is
usually above the mental age.
 In trisomy 21, gene expression of chromosome 21 is increased
in a dosage-dependent fashion that varies by tissue type. While
some trisomic 21 genes are not expressed at elevated levels,
many are. Of those significantly increased, several encode
proteins critical for mitochondrial function and for neurogenesis.
 ○ Other chromosomal abnormalities (eg, deletions, duplications,
translocations) may be present in as many as 25% of individuals with
severe MR.
 The most commonly occurring abnormalities of this class,
detectable at the 500 band level of chromosomal analysis, are
5p- (ie, Cri du chat syndrome) and 4p- (ie, Wolf-Hirschhorn
syndrome).
 Cryptic subtelomeric deletions are diagnosed with increasing
frequency as fluorescently tagged molecular DNA probes allow
detection of deletions below the microscopic resolution of a
standard karyotype.
 Cryptic subtelometric rearrangements now account for 5-6% of
cases of idiopathic mental retardation.
 Chromosomal analysis is undergoing further refinement with the
application of gene array hybridization techniques that may
detect abnormalities in up to 20% of cases of idiopathic mental
retardation.
○ Fragile X syndrome
 The population prevalence of this disorder is approximately 1 in
3500 males, giving a prevalence within the MR population of
about 1 in 76. For males with severe MR, the prevalence rises to
about 1 in 13. Other studies have found in populations of those
with mental retardation positive fragile X studies in 5.9% of
males and 0.3% of females.11 About 1 in 2000 females carries
the fragile X (FraX) gene. Current studies suggest that FraX is
the most prevalent form of inherited MR.
 Males with the full FMR1 trinucleotide repeat expansion (ie, the
full mutation) usually function in the moderate to severe range
of MR.12 Other features include testicular enlargement in the
postpubertal period and minor facial anomalies (eg, large
forehead, elongated face, protuberant auricles, prominent chin).
 Females with the full FMR1 trinucleotide repeat expansion may
have no symptoms, although some have mild learning
disabilities or even mild to moderate MR.
 Mitral valve prolapse and seizures may occur.
 Up to 20% of FraX males meet criteria for autism; autisticlike
behaviors can be present in affected females as well.
 Direct DNA analysis of the FMR-1 gene is the method of choice
for diagnosing both affected individuals with the full
trinucleotide repeat expansion (>200 repeats) and unaffected
carriers with the premutation (60-200 repeats).
• Contiguous gene deletion syndromes
○ Although less common, some of these syndromes can be readily
identified clinically. The following syndromes often can be confirmed
 by utilizing a fluorescence in situ hybridization (FISH) probe to the
deleted region in question.
○ Prader-Willi syndrome
 The Prader-Willi syndrome (PWS) involves deletion at 15q11-q13
(deletion of the paternally derived region).
 Classic clinical features include neonatal and infantile hypotonia,
feeding problems or failure to thrive in infancy, excessive weight
gain with hyperphagia beginning between ages 12 months and 6
years, food compulsions, hypogonadism, global developmental
delay, almond-shaped eyes, thin upper lip, and down-turned
corners of the mouth.
 The candidate gene within the Prader-Willi gene region is
SNRPN, which encodes a ribonucleoprotein involved in mRNA
splicing. How SNRPN contributes to the hypothalamic
dysfunction that defines many clinical features of PWS is
unclear.
 It is the first known human disorder of genomic imprinting,
leading to revolutionary changes in the field of molecular
genetics and the understanding of uniparental disomy.
 Negative FISH results in PWS may be due to maternal
uniparental disomy (UPD) of chromosome 15 (2 number 15
chromosomes from the mother) and can be confirmed with
molecular studies.
○ Angelman syndrome
 The Angelman syndrome (AS) also involves deletion at 15q11-
q13 (deletion of the maternal copy of the gene region).
 MR, absent speech, microcephaly, seizures, puppetlike ataxic
movements, inappropriate laughter, and facial dysmorphisms
characterize AS.
 The candidate genes within the AS critical region include UBE3A,
whose protein product is important in the posttranslational
modification of proteins by ubiquitination, and GABRA3, a
subunit of the GABAa receptor.
 Negative FISH results in AS may be due to paternal UPD of
chromosome 15 (2 number 15 chromosomes from the father)
and can be confirmed with molecular studies.
 Point mutations occasionally are found in AS with negative
results on FISH and UPD studies.
○ Smith-Magenis syndrome
 Smith-Magenis syndrome (SMS) involves deletion at 17p11.2.
 MR, short stature, brachydactyly, minor skeletal and facial
anomalies, sleep disturbance, self-injurious behaviors, and other
organ system malformations characterize this contiguous gene
deletion syndrome.13
  Although as many as 100 genes may be deleted in SMS, the
physical characteristics are subtle.
○ CATCH 22 syndrome
 The CATCH 22 syndrome, which comprises DiGeorge Syndrome
(DGS) and velocardiofacial syndrome (VCF), involves deletion at
22q11.
 Infants with classic DGS are identified readily by aplasia or
hypoplasia of the thymus, T cell lymphopenia, conotruncal
cardiac defects, oral-motor dysfunction, and facial
dysmorphisms (eg, low-set malformed ears, small jaw, palatal
defects, hypertelorism, antimongoloid palpebral slant).
 Minor variants may meet clinical criteria for the VCF syndrome.
With a prevalence of 1 in 4,000 people, it is the most common
known microdeletion disorder.
 The majority of individuals with CATCH 22 have learning
disabilities or mild MR and comorbid psychiatric disorders
including schizophrenia and mood disorders with psychosis.
○ Williams syndrome
 The Williams syndrome involves deletion at 7q11.14
 Characteristic facial features are described as "elfin." In the
majority, valvular stenosis, poor growth, hypotonia, late-onset
contractures, dental anomalies, infantile colic, oral-motor
discoordination, and hyperacusis (ie, hypersensitivity to sound)
are reported. Infantile hypercalcemia may be transient and is
often subclinical.
 Mild to moderate MR, relative preservation of language, and
associated weakness in visual-spatial development are typical.
 Elastin is the candidate gene presumed responsible for some of
Williams syndrome features, including supravalvular aortic
stenosis.
○ Wolf-Hirschhorn syndrome
 The Wolf-Hirschhorn syndrome, also known as 4p- syndrome,
involves deletion at 4p16.3.
 Severe growth retardation, microcephaly, "Greek helmet" facies
and orofacial clefts, and other midline fusion defects
characterize this syndrome.
 The region of deletion is gene dense, and an undefined number
of genes may contribute to this phenotype.
○ Langer-Giedion syndrome
 This syndrome, also known as trichorhinophalangeal syndrome
type II, involves deletion at 8q24.1.
 Learning disabilities and the presence of MR vary.
  Facial dysmorphisms include microcephaly, large ears, bulbous
nose, broad nasal bridge, elongated philtrum, and sparse scalp
hair. Multiple nevi and skeletal anomalies may be present.
○ Miller-Dieker syndrome
 The Miller-Dieker syndrome (MDS) involves deletion at 17p13.3.
 Infants present with severe neurologic impairment, seizures, and
hypotonia secondary to lissencephaly. The smooth cerebral
cortex with absent or decreased gyral formation results from
abnormal neuronal migration.
 The identified gene LIS1 may function as a G protein subunit in
cellular signal transduction that is important in telencephalon
development.
○ Many contiguous gene deletion syndromes for which a FISH probe is
not available have been recognized in association with MR. A
comprehensive survey is beyond the scope of this article.
• Single gene mutation syndromes
○ Tuberous sclerosis
 Hypopigmented cutaneous macules (ie, ash-leaf spots), calcified
intracranial cortical tubers with or without heterotopias,
seizures, retinal hamartomas, and renal angiomyolipomas
characterize this hamartomatous condition.
 MR may or may not be seen in affected individuals; the presence
of seizures is the factor most associated with poor cognitive
outcome. Autism is a rather common finding in children with
tuberous sclerosis associated with MR.
 This is an autosomal-dominant inherited condition with about
half of affected individuals resulting from a new mutation. Two
genes have been identified, one at 9q34 (TSC1) and the other at
16p13 (TSC2). A variety of deletions, rearrangements, and point
mutations have been implicated in tuberous sclerosis.
○ Rubinstein-Taybi syndrome
 Broad terminal phalanges, beaked nose, down-slanting palpebral
fissures, epicanthal folds, and microcephaly characterize this
syndrome.
 Behavioral aspects include variable degrees of impulsivity,
distractibility, instability of mood, and stereotypies.15
 This is an autosomal-dominant inherited condition, with the
majority of cases representing new deletions or point mutations
of the CREB-binding protein gene (16p13.3).
○ Coffin-Lowry syndrome
 This syndrome is characterized by hypertelorism, down-slanting
palpebral fissures, frontal prominence, thickened lips and nasal
septum, as well as dental and skeletal anomalies.
  It is an X-linked condition, with females having mild
manifestations. The syndrome results from mutations in the
RSK2 gene, which encodes a CREB kinase (Xp22.2-p22.1).16
○ Rett syndrome
 Developmental stagnation then regression, progressive
microcephaly, seizures, ataxia, and autisticlike behaviors are
seen in affected females.
 This X-linked dominant condition with presumed lethality for
affected males is caused by mutations in MeCP2, a
transcriptional repressor (Xq28).17
○ Smith-Lemli-Opitz syndrome
 Malformations consistent with holoprosencephaly sequence,
syndactyly of toes 2 and 3, micrognathia, cleft palate, and
moderate to severe MR are seen.
 This autosomal-recessive inherited condition results from
increases in 7-dehydrocholesterol (7-DHC) due to mutations in
the 7-DHC reductase gene (11q12-q13).
 Treatment with an oral cholesterol "cocktail" has shown some
promise in this syndrome.
○ Costello syndrome
 Characteristic clinical features include polyhydramnios, failure to
thrive, cardiac anomalies, and tumor predisposition.
 Mean IQ is in the mild MR range, but the spectrum extends from
severe MR to average intelligence. Affected males are lower
functioning than females and have significantly more behavioral
problems.18
 Mutation in HRAS is identified, resulting in a gain of function of
the encoded protein and increased activation of the cellular
signaling pathway Ras-MAPK.19
○ Many other single-gene disorders are associated with MR with
additional phenotypic and behavioral features including such problems
as microcephaly, seizures, or short stature, with or without dysmorphic
facies.
• Recent advances in genetic linkage analysis techniques in families with
multiple affected members have revealed more than 50 candidate genes
along the X chromosome. In some kindreds with a pattern of X-linked
nonsyndromic mild MR (XLMR), linkage analysis has identified candidate
genes that code for interleukin receptors, G protein signaling factors,
transcription factors, and transcriptional repressors.
• Environmental causes
○ Fetal alcohol syndrome and fetal alcohol effect
 Alcohol results in a wide range of teratogenic effects.20 The most
severely affected individuals meet criteria for fetal alcohol
syndrome (FAS) by demonstrating short palpebral fissures,
 dental crowding, camptodactyly flattened philtrum, thin
vermillion border, flattening of the maxillary area,
microphthalmia, prenatal and postnatal growth deficiency,
microcephaly, and developmental delay.
 Fetal alcohol effect (FAE) can be diagnosed only in the context
of (1) maternal history of alcohol use and (2) a child with
developmental and behavioral abnormalities that also manifests
growth deficiency or the characteristic facial dysmorphisms.
 The prevalence of FAS may be as high as 1.9 in 1000 live births
and is the leading cause of MR in the western world. The impact
of the milder FAE remains unknown. The teratogenic effects of
alcohol may be responsible for as many as 8% of cases of mild
MR. Alcohol's deleterious effects on cortical plasticity contribute
to cognitive impairment.
○ Congenital hypothyroidism
 Congenital hypothyroidism (known as cretinism in the past) is a
neurologic syndrome that results from severe thyroid hormone
deficiency during the fetal period. In the infant, the syndrome
comprises deaf mutism, moderate to severe MR, spasticity, and
strabismus.
 Normal fetal brain development requires sufficient production of
both maternal and fetal thyroid hormones. Normal glandular
production of T4 and T3 requires sufficient dietary intake of
iodine.
 Iodine deficiency may affect an estimated 800 million people
worldwide. It can result in endemic goiter, fetal wastage, milder
degrees of developmental delay, and endemic congenital
hypothyroidism.
• Perinatal/postnatal conditions: These conditions are responsible for fewer
than 10% of all MR cases.
○ Congenital cytomegalovirus (CMV)
○ Congenital rubella - No longer an important etiology in countries with
high vaccination rates
○ Intraventricular hemorrhage related to extreme prematurity - An
important cause only in societies with advanced neonatal care and
survival of the premature
○ Hypoxic-ischemic encephalopathy - Always results in combined CP/MR
○ Traumatic brain injury - Shaken baby syndrome, closed head injury
sustained in motor vehicle accidents
○ Meningitis - Decreasing in importance as the incidence of Haemophilus
influenzae type B decreases in vaccinated populations
○ Trichomoniasis during pregnancy21
○ Neurodegenerative disorders
More on Mental Retardation
Overview: Mental Retardation

Differential Diagnoses & Workup: Mental

Retardation

Treatment & Medication: Mental

Retardation

Follow-up: Mental Retardation

References

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Further Reading
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Keywords
intellectual disability, developmental delay, developmental disability, autism, autism spectrum
disorder, cognitive impairment, intelligence quotient, IQ less than 70, learning disability, Down
syndrome, Fragile X syndrome, Prader-Willi syndrome, Angelman syndrome, Smith-Magenis
syndrome, CATCH 22 (22q11 deletion) syndrome, DiGeorge syndrome, velocardiofacial
syndrome, Williams syndrome, Wolf-Hirschhorn syndrome, Langer-Giedion syndrome, Miller-
Dieker syndrome, tuberous sclerosis, Rubinstein-Taybi syndrome, Coffin-Lowry syndrome, Rett
syndrome, Smith-Lemli-Opitz syndrome, fetal alcohol syndrome, fetal alcohol effects, cretinism,
congenital hypothyroidism, congenital cytomegalovirus, congenital rubella, intraventricular
hemorrhage, hypoxic-ischemic encephalopathy, traumatic brain injury, shaken baby syndrome,
meningitis, global developmental delays
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Contributor Information and Disclosures

Author
Ari S Zeldin, MD, FAAP, Senior Clinical Fellow/Clinical Instructor in Autism and Neuro-
Developmental Disorders, Division of Pediatric Neurology, Department of Neurosciences,
University of California, San Diego, School of Medicine
Ari S Zeldin, MD, FAAP is a member of the following medical societies: American Academy of
Neurology, American Academy of Pediatrics, and Child Neurology Society
Disclosure: Nothing to disclose.
Coauthor(s)
Alicia T F Bazzano, MD, MPH, Consulting Faculty, Division of Pediatric Emergency
Medicine, Harbor/UCLA Medical Center; Attending Staff, Department of Emergency Medicine,
Children's Hospital Los Angeles; Chief Physician, Westside Regional Center
Alicia T F Bazzano, MD, MPH is a member of the following medical societies: Alpha Omega
Alpha, American Academy of Pediatrics, American Public Health Association, and American
Society for Bioethics and Humanities
Disclosure: Nothing to disclose.
Medical Editor
Beth A Pletcher, MD, Associate Professor, Co-Director of The Neurofibromatosis Center of
New Jersey, Department of Pediatrics, University of Medicine and Dentistry of New Jersey
Beth A Pletcher, MD is a member of the following medical societies: American Academy of
Pediatrics, American College of Medical Genetics, American Medical Association, and
American Society of Human Genetics
Disclosure: Nothing to disclose.
Pharmacy Editor
Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine
Disclosure: eMedicine Salary Employment
Managing Editor
Kenneth J Mack, MD, PhD, Senior Associate Consultant, Department of Child and Adolescent
Neurology, Mayo Clinic
Kenneth J Mack, MD, PhD is a member of the following medical societies: American Academy
of Neurology, Child Neurology Society, Phi Beta Kappa, and Society for Neuroscience
Disclosure: Nothing to disclose.
Chief Editor
Amy Kao, MD, Attending Neurologist, Children's National Medical Center, Washington DC
Amy Kao, MD is a member of the following medical societies: American Academy of
Neurology, American Academy of Pediatrics, American Epilepsy Society, and Child Neurology
Society
Disclosure: Nothing to disclose.

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Differential Diagnoses
Autism Learning Disorder, Mathematics

Borderline intellectual functioning Learning Disorder, Reading

Child Abuse & Neglect, Posttraumatic Learning Disorder, Written

Stress Disorder Expression

Childhood Disintegration Disorder Pervasive Developmental Disorder

Cognitive Deficits Rett's Syndrome

Depression Severe communication/language

disorders

Other Problems to Be Considered

CNS trauma
Environmental deprivation
Major sensory deficits (eg, deafness, blindness)
Malnutrition
Mitochondrial cytopathies
Neurodegenerative disorders