Measures for Children with Developmental Disabilities: An ICF-CY Approach

2012

SECTION I OVERVIEW

1

SELECTION AND USE OF OUTCOME MEASURES

Annette Majnemer

What are outcome measures and their determinants?

An outcome is the consequence or end result of a process, which could be a treatment, programme or service or could simply be changes in the health condition over a phase or period of development.¹ The outcomes measured are linked to either the effects of a particular intervention or service delivery programme or the impact of the disease or health condition. Outcome measures are tools that may be used to assess a change in particular attributes that are deemed meaningful to a person’s life over time.² They may be differentiated from enduring attributes such as personality traits, expectations or demographic characteristics. This last factor may include important determinants of outcomes, and therefore can also be measured for either clinical or research purposes, along with outcome measures. A determinant may be any factor that causes or influences the outcomes of interest.³ The measurement of outcomes and their determinants is essential in informing decisions about treatment and targeting those who may benefit most. For example, the use of outcome measures as part of a randomized controlled trial may provide evidence that an injection of botulinum toxin for children with spastic cerebral palsy is effective in increasing range of motion, alleviating spasticity and improving movement quality and motor function.⁴ However, evaluation of the determinants of responsiveness, that is the factors associated with greater improvements following Botulinum toxin treatments, reveals that age, number of previous treatments and contextual factors such as the child’s mastery motivation and family stress levels can influence the degree of responsiveness to this expensive treatment modality.⁵ Some variables may be confounders that are correlated with both the independent variable (determinants, exposures) and the dependent variable (outcome). These need to be accounted for in the analyses of relationships between determinants and outcomes.

Knowledge of determinants is therefore helpful in targeting those children who may benefit most from particular treatments or services, with the aim of enhancing the outcomes of interest. Similarly, a range of outcome measures may be used to characterize the development and functioning of a specified group of children with a developmental disability; however, measurement of particular determinants is also very helpful in differentiating factors that may positively or negatively influence disability level. Cassidy⁶ presented a conceptual model that considered both medical factors (e.g. severity, comorbidities, aetiology) and demographic factors (e.g. age, sex, socioeconomic status) as important influences of outcomes. Similarly, the conceptual framework for the Canadian Health Measures Survey considers the dynamic interplay between non-modifiable and modifiable determinants together with health behaviours and characteristics as potential mediators (e.g. intermediary; intervenes between the exposure and the outcome) and moderators (e.g. alters the state or effect of a causal factor or variable) of health outcomes (Table 1.1). Whether in clinical practice or in the research setting, outcome assessment should involve consideration of factors that can potentially exert important influences on these outcomes. Therefore, appropriate tools need to be carefully selected to measure both outcomes and their determinants.

The measures used to assess outcomes and their determinants can be standardized, which implies that they are applied in a prescribed manner, as established by the developers of the instrument. Patient-centred outcomes are often measured using self-report questionnaires or interview formats to assess aspects of health and functioning from the individual’s own perspective.⁸ Often, clinical studies use surrogate end points (e.g. measurement of blood pressure and cholesterol) as a substitute for a more meaningful outcome (e.g. cardiovascular health/disease). Relationships are assumed and surrogates are used as they are more objectively and easily quantified. Whether in clinical practice or research, the measures used to describe the outcomes of interest should be valid, objective measures of the constructs of direct interest. There are several factors that need to be considered when selecting outcome measures, and these are outlined later in this chapter.

TABLE 1.1

Conceptual framework for the Canadian Health Measures Survey⁷

TABLE 1.2

Utility of outcome measures for different stakeholders

It should be emphasized that quantification of outcomes and their determinants using objective, standardized measurement tools is only one way of depicting and characterizing this important information. Qualitative methods or mixed methods can also be used as processes of inquiry to gather a more in-depth understanding of the constructs of interest.

Why are outcome measures important to use?

Outcome measurement has important benefits to consumers of services (patients/clients and their family members), service providers, clinical managers, policy makers and researchers (Table 1.2). For patients or clients and their families, individualized application of outcome measures provides the family with objective, quantitative information regarding their child’s relative strengths and weaknesses in the area(s) assessed, demonstrates changes in performance over time and serves to foster achievement and motivate children to improve their abilities in the areas measured by the assessment tool.⁹,¹⁰ These measures would need to meet rigorous psychometric standards for use in individuals. Furthermore, outcomes data from research studies provide useful information regarding the natural history and developmental trajectories to be expected in particular childhood disability subgroups. Knowledge of these outcomes enables health service providers to more effectively counsel families regarding the outcomes to be expected for their child. It is important that parents and children have realistic expectations for the future and set personal goals that are attainable.

Measuring outcomes is important for health service providers as well. Outcome measures serve to identify areas of concern and to monitor changes over time. The use of outcome measures can promote a more reflective practice approach, thus providing clarity of purpose with respect to goal attainment.¹⁰ Clinicians may carefully consider whether or not goals of intervention are being met, or whether new interventions or goals need to be pursued.⁹,¹¹ An outcomes-based framework for service delivery is an important cultural shift for clinicians. The focus is on achieving specified outcomes, with objective, measurable treatment goals and commitment to long-term changes.¹⁰ Objective data encourage clinicians to be more accountable about the services they are providing, both to themselves and to others. Indeed, with increasing fiscal constraints, rehabilitation specialists are under greater scrutiny to provide high-quality care at the lowest cost, and outcome measurement can be an effective strategy to validate the usefulness of particular programmes or interventions.⁹,¹² For example, greater efforts at restructuring service delivery by using dyads (two children treated simultaneously by one health professional) or group treatment programmes, and by providing consultative services in addition to direct interventions, are cost-effective strategies that may need greater consideration in practice.

Clinical co-ordinators or managers and other administrators of health services value outcome measurement for a variety of reasons. First, interdisciplinary programmes are costly, and there is a need to demonstrate that the outcomes of the programme align well with the goals and objectives of the programme.²,¹⁰ For example, if improving quality of life is the primary goal of a social support group or assistive technology service for children with developmental disabilities, it would be important to use an outcome measure at baseline and upon completion of the intervention to demonstrate such an effect. The use of outcome measures enables administrators and managers to better appreciate which goals are feasible and attainable for particular programmes or services. Outcomes research has highlighted new populations who are at risk of developmental disability. For example, outcomes data on infants with congenital heart defects who require open heart surgery clearly demonstrate that survival has improved dramatically; however, it is not known whether these neonates are at high risk for developmental and learning challenges as they grow and develop.¹³ This emphasizes the need for new interdisciplinary health services for children with congenital heart defects that are directed at the periodic surveillance of developmental progress at key transition points as the child matures, as are routinely provided for infants who are born preterm. Therefore, new health service programmes can be justified by outcomes research on new target populations that are at risk for developmental disabilities. As part of quality assurance, health administrators can use outcome measures to evaluate the quality of services to include the structure of the services, the process of care provided and the outcomes, and satisfaction with the services.¹⁴–¹⁶ Performance measurement is a process whereby indicators and assessment tools are used to evaluate a programme’s mission, goals and target outcomes.¹⁰ This may include the evaluation of structural elements of a service such as access, frequency of treatments, and qualifications and expertise of the service provider. Furthermore, process elements may include attributes of the treatment such as respectful and supportive care and the appropriate selection of evidence-based treatment modalities. Finally, evaluation inevitably includes indicators and measures of the child’s outcome in the domains in which improvements are expected. Satisfaction with services by family members should also be considered in programme evaluation and performance measurement.¹⁵,¹⁷ This objective information not only sets performance standards but is essential in order for administrators and managers of health services to make decisions regarding resource allocation that will provide the best outcomes for children requiring these services.¹⁰

Public policy at the government level involves the development and adoption of principles, programmes and services in the health sector. Policy makers may take advantage of outcomes data as evidence to develop new policies or programmes for target populations in need of services.¹⁸ Objective evidence provided by outcome measures can identify where the needs are greatest for services, resources and supports, which is required for effective and judicious resource allocation.

Researchers use outcome measures to answer a wide variety of questions related to childhood disability, including elucidation of mechanisms or causes of disability, understanding patterns of recovery and reorganization of the brain, validation of early identification tools, verification of treatment effectiveness, recognition of determinants of disability, evaluation of health promotion strategies, determination of quality of health services and effective knowledge translation efforts.² Invariably, outcome measures are needed to quantify objectively particular attributes or characteristics of the individual with or at risk for a disability, or aspects of their environment.

Clearly, the potential benefits of application of outcome measurement are broad and wide ranging. Therefore, consideration should be given to applying multiple measures to capture the spectrum of outcomes of interests, as well as possible indicators or determinants that may influence the outcomes.¹⁶

Factors to consider in the selection of outcome measures

Measures are widely used in clinical practice and research for a variety of purposes. Selection of the most appropriate outcome measures can raise a number of concerns and queries, for example:

•

What are the best markers for success of your intervention?

•

Which measures will enable you to specifically answer your research questions and test your hypotheses?

•

Is the tool suitable for the population of interest (age, diagnosis, developmental level and abilities)?

•

Will the findings on assessment provide useful clinical information?

•

Will the evaluation tool accurately measure the ‘right thing’ (i.e. cohesive construct of interest) in your research or clinical hypotheses?

•

Is the tool reliable, that is, is it consistent across multiple test administrations and raters?

•

Is the measure affordable and easy to administer, and well tolerated by the participants being investigated or evaluated without the need for modification of the administration standards, which could jeopardize interpretability?

•

Can you use only a portion of the measure without jeopardizing reliability and validity (do subscales stand alone)?

A number of criteria need to be considered in the selection of outcome measures, whether by clinicians or by researchers. Several authors ⁹,¹⁹–²¹ (see also www.hta.ac.uk/fullmono/mon214.pdf) have provided checklists of these criteria, and there is consensus that the key factors to consider in the selection of outcome measures include the following and are described further below:

•

measures are specifically measuring the outcome(s) of interest;

•

measures are relevant to the children being evaluated and to their families;

•

administration is feasible and practical;

•

measures were developed with a particular purpose, for a specific target population; and

•

the instruments chosen are psychometrically sound.

MEASURES SELECTED ARE MEASURING THE OUTCOMES OF INTEREST

Clinicians need to be sure that the measures they select are relevant to the goals of treatment, and therefore goals of intervention should first be established before the selection of outcome measures.⁹ What is the intended purpose of the intervention and what attributes of the child do you expect to change? If a treatment programme, for example, claims to improve developmental skills and enhance quality of life, then it is essential that the specific developmental domains targeted for improvement are measured using tools that are sensitive to change, and that quality of life is also measured. Therefore, clinicians need to carefully reflect on what outcomes are realistically likely to change in the time frame of the interventions being provided. Factors that might influence level of change (e.g. compliance with treatment) may need to be objectively quantified (measured) as well.¹,¹⁰ Table 1.3 provides an example of some of the issues and clinical questions that may be raised and considered in the selection of outcome measures for an early intervention programme or for a research study evaluating the effectiveness of such a programme on a target population.¹¹ Traditionally, many early intervention programmes have focused on measures of cognitive ability such as IQ; however, careful reflection a priori of the areas that should be measured will ensure that the effectiveness of such programmes is more broadly appreciated and understood.

TABLE 1.3

Example of factors to consider in the selection of measures for an early intervention programme¹¹

Often, outcome measures are used for clinical accountability, so as to evaluate services and programmes. Outcomes are compared with baseline, and the proportion of patients or clients that meet or exceed treatment goals are determined. Increasingly, factors influencing ‘treatment success’ are considered, and may guide future service planning.¹⁹ Programme evaluation could include family functioning, and child’s self-concept and level of motivation, and programmes may therefore be interested in measuring these areas. In particular, these personal and environmental factors can potentially be modified by interdisciplinary teams, and therefore may be considered as part of the programme goals and interventions.¹⁹

Similarly, researchers need to carefully select the outcome measures that will specifically address their research questions, and can be used to test the proposed hypotheses.²² It is often challenging to find an appropriate criterion standard measure of particular areas of behaviour and development, thus limiting the research questions that can be investigated. Indeed, often one of the first phases of research programmes involves the development of new measures that will then be utilized to pursue the research questions of investigators.

MEASURES ARE RELEVANT TO CHILDREN AND TO THEIR FAMILIES

The evaluation tools chosen for use must be acceptable to the children being assessed and to their families in terms of administration format and test requirements.¹⁹ Furthermore, the areas selected for measurement should be of importance to the child and family, in line with health and developmental outcomes of relevance to them. Family-centred care involves a partnership between health service providers and families, whereby the parents and children are actively involved in the selection and prioritization of treatment goals, and the care provided must be respectful and supportive.²³ Family-centred approaches to care have been found to enhance developmental outcomes for the child, improve family adjustment and coping, and increase satisfaction with services.²⁴,²⁵ Active involvement of families in the selection of pertinent outcomes will undoubtedly reinforce the positive attributes and benefits of family-centred service.

PRACTICALITY AND FEASIBILITY OF THE MEASURE

Measures should be ‘user friendly’, that is, easy to administer by the evaluator. The measure should have a clear (standardized) administration protocol. Indeed, some tools may require specific training or special qualifications to ensure standardized administration, scoring and interpretation. It is critical to follow the standardized administration and scoring procedures as outlined in the test manual rather than attempt to simplify the test administration, as deviation from the designated standardized approach can increase error and bias and jeopardize interpretation of the results.²⁰,²² Often, the time to complete the measure is a factor in its successful uptake as a clinical or research tool, with short administration times being an asset for children with disabilities.⁸ Cost is another factor to consider, and investment in an expensive test kit is only likely to be necessary if there is broad applicability and utility. In summary, practical considerations in the selection of outcome measures include cost, time, ease of use, portability and availability of the instrument.²⁰ Often, clinicians will use what is already available in their department; however, consideration should be given to periodic investment in new outcome measures that may provide accurate new information that is not collected using existing measures.

THE PURPOSE OF THE MEASURE IS CONSIDERED

Tools are developed with a particular purpose. They may be discriminative tests, which provide information about children with disabilities compared with typically developing children (i.e. norm-referenced tests). Predictive measures and screening tools are used to identify children with or at risk of a particular attribute (now or in the future). Screening tests provide preliminary information, which is then followed up with a more detailed assessment in those who fail or obtain borderline results on the initial screen. Evaluative measures can detect changes over time. These tools are often criterion referenced (judged against a criterion standard, not compared with the ‘norm’) and thus are more likely to be sensitive to small changes in performance.²⁶,²⁷ When selecting a particular measure, it is essential that evaluators verify the sample of children in whom the measure was standardized in order to be sure that it is representative and therefore appropriate for the children for whom it is intended. Thus, when selecting measures either for clinical practice or for research, it is important that the tools chosen are being used as intended. For example, if the intent is to demonstrate the effectiveness of a new aid or adaptation (e.g. built-up handles to facilitate grasp) in promoting independence in self-feeding, personal care and hygiene, then a measure such as the Pediatric Evaluation of Disability Inventory, which has been shown to reliably perceive small improvements (or deteriorations) in self-care activities, should be selected.⁸ These tests must demonstrate that they are responsive tools that can be used to detect clinically important changes over time. Furthermore, the tool should be sensitive to change at various levels of performance. If the test is too difficult and scores tend to cluster at the lowest values (floor effect) or, conversely, if the test is too easy and scores cluster at the highest values (ceiling effect), then detecting small changes may not be possible.²⁰

THE MEASURE IS PSYCHOMETRICALLY SOUND

Psychometric theory is the science of assessing the measurement properties of a tool. Collectively, this can include (1) data quality such as the impact of missing scores or non-response to items; (2) scaling assumptions and weighing of items to create scales; (3) acceptability of score distributions in representing the construct of interest; (4) reliability or consistency and reproducibility of the scores; (5) validity or the extent to which the tool is measuring the construct it claims to measure; and (6) responsiveness or the extent to which the measure can detect clinically important changes over time.⁸

Whether in clinical practice or in research, careful attention should be given to the psychometric properties of a measure to ensure that the measure selected was appropriately scaled and can accurately measure the construct of interest. Scoring the results must be done using the prescribed manner in which the tool was developed, including the interpretation of missing values and the ability to use only particular subscales. Reliability estimates the extent to which the scores produced are free from random error and are stable and accurate. Reliability can be estimated across time (test–retest), across raters (inter-rater) and within the measure (internal consistency).²¹ Test–retest reliability verifies whether the score is consistent on repeated evaluation over a time frame in which you would not expect to observe any alteration in the results. For example, if too short a time interval is used, learning or practice effects may influence item execution. If the test is repeated right after completion of the first test, fatigue may influence performance. If too wide a time interval is used, there may be actual maturational or other (e.g. disease progression) changes in abilities. Inter-rater reliability ensures that any trained rater will achieve the same results when evaluating a group of individuals. Reliability decreases as a function of greater measurement error (i.e. the extent to which observed scores will vary from the true scores). Both the experience or training of the tester and the child’s level of attention or compliance can contribute to measurement error. Indeed, the evaluator can introduce personal biases in the administration of the test and interpretation of the results, and therefore the use of ‘blind’ evaluators in research, who are unaware of the study hypotheses or information about the research participants, is necessary to minimize evaluator bias. Reliability is typically represented statistically as a coefficient between 0 and 1.0, with 1.0 meaning no measurement error; the closer to 1.0, the more confident you can be about the stability of the scores produced. Correlations provide incomplete data, as they reflect only the degree of association and not the level of agreement. For example, one evaluator may consistently score children 10 points higher than another evaluator, and the resultant correlations between the two evaluators would be highly associated, but clearly with low agreement. The intraclass correlation coefficient (ICC) is a more appropriate analytical approach for continuous data to measure both association and level of agreement between multiple raters or scores obtained over repeated measurements. Kappa should be used for categorical data and weighted kappa should be used for ordinal data in order to determine the reliability between raters or tests. This provides the level of agreement as a ratio of observed agreement compared with the agreement expected by chance. Generally, ICC or kappa should be > 0.70 or 0.75 (for group data; it should be higher for use with individuals), with scores of 0.5 to 0.75 considered moderate correlation. Confidence intervals (range of values of the actual reliability, as low as ‘x’ or as high as ‘y’) of these estimates of reliability are helpful to examine as well, as the narrower the confidence interval, the more precise the estimate of the true value.²⁰,²⁷,²⁸ When examining reliability estimates for a measure, it is critical to verify which group of participants (e.g. typically developing individuals or children with a particular diagnosis or health condition) were used in the reliability studies as the results cannot be generalized to other populations.

Validity refers to the extent to which a tool is measuring what it is designed to measure. First, in consultation with experts, the content of the tool is carefully evaluated to ensure that it includes all attributes of the phenomenon of interest and that it is logical and meaningful to the tester and the individuals being tested (face and content validity). The test can then be compared with a criterion standard measure which assesses the same characteristics or construct (concurrent validity). Another validation approach is to ascertain whether the measure correlates with scores obtained on a clinically relevant criterion standard in the future (predictive validity), thus verifying an association with behaviours in the future that you would expect it to predict. For these statistical comparisons, Spearman’s or Pearson’s correlation coefficient is generally used, and the closer the score is to 1.0, the stronger the association. Criterion standards often do not exist, and therefore the level of correlation is not perfect as the two measures being compared may be measuring similar but not identical attributes. Validity can also be estimated by demonstrating that the tool behaves as predicted in differentiating groups of individuals (discriminant validity) with high and low performance levels in known groups, for example, by using t-tests. Evidence that the tool relates to measures of a similar construct (convergent validity) and does not relate to measures of a different construct (divergent validity) can also be verified statistically, thus providing additional evidence for construct validity. In addition, the domains or subscales within the measure should aggregate well together to represent particular attributes of interest (internal consistency), and this can be verified using Cronbach’s alpha. Factor analysis and principal components analysis are other statistical approaches that are used to verify that, conceptually, several items or subscales collectively explain the variance in scores.²⁰,²²,²⁷,²⁸

As discussed above (i.e. the purpose of the measure), responsiveness of an instrument refers to its ability to detect clinically meaningful changes over time. This is particularly important to verify in the case of clinicians who want to use the tool to quantify the effectiveness of a treatment, or for researchers who are carrying out an intervention trial. A variety of statistical approaches may be used to evaluate the responsiveness of a tool, although often the effect size is reported, with an effect size >0.2 indicating a small effect, >0.5 a moderate effect and >0.8 a large effect.²⁰,²⁷,²⁸

For a more detailed description of psychometric theory, Streiner and Norman²⁷and Portnoy and Watkins²⁸ are excellent reference texts.

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2

THE PURPOSE AND FRAMEWORK FOR THIS TEXT

Annette Majnemer

The purpose of this text

Disability status reflects a multidimensional experience, encapsulating both intrinsic attributes of the individual (e.g. physical, cognitive, behavioural, sensory) and extrinsic environmental factors that mediate disability. Descriptions of the developmental progress and outcomes of children and young people with developmental disabilities should be broadly framed to include all facets of the individual’s physical and psychosocial functioning and health, with consideration of contextual factors that influence his or her capabilities and adaptive capacity.¹

The primary aim of this text is to provide a representative sample of measures across a wide range of intrinsic and extrinsic attributes. The target readership for this text can be clinicians, educators or researchers who are looking for a particular measurement tool that can be used for children and young people with a developmental disability. Developmental disability is very broadly conceptualized as developmental delays or deficits in one or more developmental domains (e.g. gross/fine motor, cognitive, behavioural, speech) that have an impact on that person’s ability to perform age-appropriate everyday activities and functions. Using the International Classification of Functioning, Disability and Health (ICF, described below) as a framework for organizing the various types of measures into sections and chapters, assessments across a wide range of domains are represented. The chapters are not meant to provide a description of every measure that exists within a particular domain or construct; rather, a representative sample of useful measures is depicted, with more detailed descriptions of those with the best properties and potential utility. Most chapters include tables with a capsule summary of the features of the best measures within the sphere of interest. The contributors to or authors of each chapter were selected for their expertise in the topic area. The contributors represent a broad range of disciplines from around the world, reflecting the multidimensional nature of the ICF.

Below is a description of the ICF, followed by a description of the organization of the content of the text and the chapters that follow. It should be emphasized that biomedical investigations that evaluate the integrity of organs or systems, typically conducted by medical specialists, are not included in this text. Rather, the focus of this text is to describe a broad range of assessments and questionnaires that might be used by health professionals who evaluate infants, children and young people with a developmental disability or by researchers investigating clinical research questions that relate to children with developmental disabilities.

The framework for this text

INTERNATIONAL CLASSIFICATION OF FUNCTIONING, DISABILITY AND HEALTH

The ICF was adopted in 2001 by the World Health Organization to replace the International Classification of Impairments, Disabilities and Handicaps.² The ICF is a scheme that is meant to comprehensively classify the functioning and health of individuals, and it complements the International Classification of Diseases (ICD) coding scheme.³ The ICD explains what the health condition is (i.e. the diagnosis), and may reveal why it has occurred, and indirectly provides prognostic information, whereas the way in which the body systems and the individual are functioning in their environment and the extent to which the individual is participating in society are further elucidated by the ICF. An important advantage of the ICF is that it provides a common language that may be used across disciplines and sectors to describe human functioning⁴–⁶ in individuals with or without disabilities. This conceptual framework of human functioning is cross-cutting and is therefore intended to be used by health professionals, policy makers, managers, educators, researchers and consumers of services.⁵,⁷ Indeed, individuals from various health disciplines have mapped the ICF onto their discipline or programme so as to provide a holistic view of the clients or patients they are servicing.³,⁸ There has been endorsement and gradual uptake by health professionals and researchers of the ICF as a model that guides the selection of measures, treatment goals and outcomes of interest,⁹ and this ensures that intervention planning is family centred and collaborative.¹⁰ In particular, reflection on the contextual factors that influence health and functioning has promoted a biopsychosocial view of disability, thus placing a greater emphasis on changing the environment (physical, social, attitudinal) rather than the child.⁴,¹¹,¹²

The ICF for Children and Youth (ICF-CY) was published in 2007. It applies and modifies the categories, content and coding to the characteristics of children and young people (aged 0–18y). More specific detail was provided to the descriptions and new content was added where relevant. The criteria for inclusion and exclusion to the various categories were modified and qualifiers now consider developmental aspects.⁵,⁷

Part 1 of the ICF

Functioning and disability has two components:

(i)

body functions and structures

(ii)

activities and participation

Body structures refer to the anatomical parts of the body. These are classified by body systems, such as structures of the brain or the cardiovascular system or structures related to movement. Impairments of body structure are deviations from the population standard or norm and typically include a defect, injury or anomaly in the particular structure and are the anatomical manifestations of the underlying pathology. Body structures may be differentiated from the disease or health condition. Although impairments of body structure may relate to a health condition, the individual may not be ‘ill’ or unwell. Furthermore, body structures do not indicate or provide information on the aetiology of the impairment. Body functions refer to the physiological and psychological functions of the various body systems, and impairments describe alterations from the norm in the functioning of these systems. Physiological manifestations of particular body systems might include, for example, abnormal muscle tone or decreased visual acuity, whereas psychological (behavioural) manifestations might include poor attention span or diminished fluency of speech. Impairments in body functions typically describe and refer to ‘delayed, abnormal, decreased or poor’ functioning of particular systems.

Activities and participation are classified together. Activity refers to the execution of a particular task or action, whereas these tasks can then be grouped within particular life situations or roles, referred to as participation. Activity limitations are the challenges or difficulties that an individual may experience in performing particular tasks. This could include discrete activities such as listening to a story, sitting on a chair or drinking from a cup. Participation restrictions refer to challenges in the ability to be involved or engaged in particular life roles, such as, learning and applying knowledge, mobility in different environments or interpersonal interactions and relationships. These activity limitations and participation restrictions are based on generally accepted standards of performance of typically developing infants, children and young people. Two qualifiers used to describe these components are capacity (i.e. the task[s] that an individual is able to execute in a standardized environment – ‘can do’) and performance (i.e. the task[s] that an individual typically carries out in his or her current environment – ‘does do’). The gap between capacity and performance relates to the contextual factors below that exert powerful influences on functioning.

Part 2 of the ICF

Contextual factors has two components:

(i)

environmental factors

(ii)

personal factors

Contextual factors constitute the background within which an individual functions. Environmental factors include the physical, social and attitudinal environment that an individual lives in. These external factors can be viewed and subsequently coded as either facilitators or barriers, depending on their influence on an individual’s functioning and health. There is the immediate ‘individual’ environment, including the home and work or school environments. The routine contacts made with others (e.g. family, peers, coworkers) and the physical attributes of these environments are considered. There is also the ‘societal’ environment, which includes services and organizations in the community and government (e.g. laws, transportation services, social networks) that can affect the physical, social and attitudinal environment.

Features of the individual that are not part of their health condition or health status would constitute their personal factors. These include, for example, demographic characteristics such as age, sex and ethnic origin, but also lifestyle preferences and habits, upbringing, education, coping style, motivation and other personality traits. It should be noted that personal factors are not classified in the ICF. However, their important contribution is recognized and is part of the framework.

Organizational structure of this text

SECTIONS AND CHAPTERS OF THE TEXT: ICF FRAMEWORK

The ICF was used as a framework for creating various sections and chapters to group different types of measurement tools. It should be noted at the outset that these various measures, for the most part, were not specifically developed to capture a particular construct or group of constructs within the ICF framework. The authors of this text have done their best to identify the best available measures that capture attributes within the domains of the ICF classification. This is a challenging task and the fit within the codes listed for each domain is not always exact. Nonetheless, the key conceptual attributes across the spectrum of human functioning and health are included.

Section I provides an overview on the selection and use of outcome measures and outlines the organizational structure of the text. Section II focuses on two particular biomedical tools related to body structure and function that have advanced considerably owing to novel technological capabilities. Section II then elaborates on measures of domains within body function. Section III provides an overview of global measures of developmental impairments (delays) across a range of body function domains. Activities and participation measures appear in Section IV, and tools that may be used to assess contextual factors are in Section V. Finally, Section VI has been added to provide insights into measuring a child holistically, in terms of both health and well-being.

Body structure measures would include those that evaluate the structural integrity of each of the organs and systems within the body. These biomedical instruments were beyond the scope of this text and were not included. Nonetheless, given the important advances in novel neuroimaging technologies such as magnetic resonance spectroscopy, diffusion tensor imaging and volumetric studies of brain microstructure, a chapter was included to update the reader on neuroimaging tools as a measure of brain structure and function. Furthermore, a chapter on genetic testing was also included. It should be noted that the gene integrity within the body conceptually is not part of the ICF; rather it considers the mechanisms that underlie the integrity (whether intact or impaired) of the structures and functions of the organs and systems. The rapid evolution and advancement of genetic testing is resulting in rapid expansion of new knowledge of the genetic determinants of developmental disabilities or of the enhanced risk for early brain injury or maldevelopment, which are ultimately associated with disability. Therefore, the chapter on genetic testing provides an overview of these new tests that are increasingly being used in clinical practice and research to elucidate causal pathways of developmental disability.

Component: Body structures and functions

Chapter 3 Brain structure and function: novel neuroimaging tools

Chapter 4 Body structure and function: genetic testing

Body functions within the ICF cover a wide range of system functions and are listed in Table 2.1. The measures available for particular ICF domains that were felt to be most relevant to the clinicians who provide services to children and young people with developmental disabilities and to researchers who investigate clinical research questions pertaining to the field of childhood disability are included in this text. Therefore, chapters describing measures of the functions of the digestive, metabolic and endocrine systems, genitourinary and reproductive systems, or skin and related structures were not included. Similarly, several of the sensory functions (seeing, hearing) involve medical tests and are not described in this text. An effort was made to include chapters related to all global mental functions and specific mental functions; however, some particular mental functions are unfortunately excluded from this edition. For global mental functions, there is no chapter that specifically describes measures of dispositions and intrapersonal functions (b125; although this is acknowledged by ICF-CY coding as related to temperament and personality functions) or energy and drive functions (b130). For specific mental functions, chapters describing measures of psychomotor functions (b147), thought functions (b160), basic cognitive functions (b163), calculation functions (b172) or mental function of sequencing complex movements (b176) also are not included.

There are numerous measures available that evaluate a child’s global developmental abilities and thus cover many of the domains of body functions (e.g. sensory, motor, perceptual, speech, behavioural). These may be in the form of screening tools (Chapter 17) or standardized instruments (Chapter 18). It is challenging to classify these measures to fit within either body functions or activities and participation, and indeed this remains a point of controversy. In my view, the purpose of these measures, for the most part, is to determine whether or not a child exhibits delays or abnormalities in one or more developmental domains. They do not necessarily demonstrate or illustrate whether or not these delays have an impact on everyday activities and participation in age-appropriate life roles. Therefore, these global developmental measures appear to be a better fit with body functions, but nevertheless they appear in their own section (Section III), between body functions and activities and participation.

TABLE 2.1

Component: Body functions

TABLE 2.2

Component: Activities and participation¹¹

For activities and participation measures (Table 2.2), there is a chapter that provides an overview of the terminology and challenges with measurement of this multifaceted component. Six measures that cross several of the domains within activities and participation are described in detail in this overview. For the specific domains, each chapter describes the construct and summarizes the fundamental attributes of some of the best measures available in the domain of interest. Some of the chapters have few measures available that fully capture the particular ICF domain, whereas others have many measures available that evaluate parts of the domain of interest.

TABLE 2.3

Component: Environmental factors¹¹

For contextual factors, although personal factors are not classified within the ICF, this particular area is described in Chapter 29, and measures that may be helpful for evaluating some relevant personal attributes are suggested. Finally, elements of the environment that are most pertinent to children and young people with a disability are conceptualized in three separate chapters (see Table 2.3). The chapters that cover particular environmental factors do not easily separate out within the five ICF domains within this component, as there are overlapping concepts.

Finally, in an effort to acknowledge the importance of a holistic view of health and well-being, two additional chapters were added. Chapter 33 provides an overview of measures of health status whereas Chapter 34 focuses on quality of life measures. From my perspective, health and well-being encapsulate all elements of the ICF, with all components (Part 1, ‘Functioning and disability’, and Part 2, ‘Contextual factors’) interacting to influence these global spheres. Considerable controversy exists with respect to defining and delineating the unique attributes of health and quality of life, as these concepts and their measures continue to be further developed and refined.

Format for each chapter

A suggested format was provided to each of the contributors of this book, and in most but not all cases the chapters adhere to this format. The first section of each chapter is entitled ‘What is the construct?’ and is meant to clarify what specific aspects or attributes within the ICF framework are the focus of the measures described within the chapter. In some cases, there may be several constructs or characteristics within an ICF component that are grouped together and collectively defined within this section. It should be re-emphasized that most measures were not developed with a particular ICF construct in mind, and therefore measures often do not match or adhere precisely to particular elements of the ICF. Nonetheless, the information gathered by using the recommended measures in each chapter should be helpful in informing the ICF coding of the particular attributes of interest. Minimum data sets and structured interviews are some of the methods currently being explored to facilitate specific coding strategies for the ICF-CY.¹³,¹⁴ Coding is described in detail in the text by the World Health Organization on the ICF-CY 2007.⁷

For most chapters, the second section is entitled ‘General factors to consider when measuring this domain’. The authors put forth a variety of issues that are important to consider when measuring the particular area of interest. These could include, for example, methods of measurement, factors related to type of disability, the effect of age, feasibility issues and limitations in the use of measures in children with developmental disabilities. A common issue raised is the need for proxy reporters for some of the measures and the inherent biases that can accompany their perspectives of what the child would report. Another concern frequently raised is the challenge of assessing a domain against a backdrop of ongoing growth and development, implying that children (with a permanent lifelong condition) are maturing and evolving continuously, and therefore age and stage of development must be considered as part of the interpretation of assessment results.¹

Each chapter provides an overview of recommended measures, which describes the various tools and their purpose and content, as well as their psychometric properties. In most chapters, a tabular format of the best measures is also included with headings such as purpose, population, description of domains, administration and test format, psychometric properties, how to order and key references. These tables are meant to provide a capsule summary of the measure for easy reference.

REFERENCES

1.

Lollar DJ, Simeonsson RJ, Nanda U (2000) Measures of outcomes for children and youth. Arch Phys Med Rehabil 81(Suppl 2): S46–S52.

2.

World Health Organization (2010) International Classification of Functioning, Disability and Health (ICF). Available at: www3.who.int/icf/icftemplate.cfm (accessed 1 August 2011).

3.

Simeonsson RJ, Scarborough AA, Hebbeler KM (2006) ICF and ICD codes provide a standard language of disability in young children. J Clin Epidemiol 59: 365–373.

4.

Colver A (2005) A shared framework and language for childhood disability. Dev Med Child Neurol 47: 780–784.

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Lollar DJ, Simeonsson RJ (2005) Diagnosis to function: classification for children and youths. J Dev Behav Pediatr 26: 323–330.

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Mandich M (2007) International classification of functioning, disability and health. Editorial. Phys Occup Ther Pediatr 27: 1–4.

7.

World Health Organization (2007) International Classification of Functioning, Disability and Health – Children and Youth. Geneva: World Health Organization.

8.

McCormack J, Worrall LE (2008) The ICF body functions and structures related to speech–language pathology. Int J Speech-Lang Pathol 10: 9–17.

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Majnemer A (2006) Assessment tools for cerebral palsy: new directions. Future Neurol 1: 755–763.

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McDougall J, Wright V (2009) The ICF-CY and goal attainment scaling: benefits of their combined use for pediatric practice. Disabil Rehabil 31: 1362–1372.

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Majnemer A, Darrah J (2009) New concepts in the rehabilitation of children with developmental disabilities: occupational therapy and physical therapy perspectives. In: Shevell M, editor. Neurodevelopmental Disabilities: Clinical and Scientific Foundations. International Review of Child Neurology Series. London: Mac Keith Press, pp. 394–409.

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Manns PJ, Darrah J (2006) Linking research and clinical practice in physical therapy: strategies for integration. Physiotherapy 92: 88–94.

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Kronk RA, Ogonowski JA, Rice CN, Feldman HM (2005) Reliability in assigning ICF codes to children with special health care needs using a developmentally structured interview. Disabil Rehabil 27: 977–983.

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Simeonsson RJ, Leonardi M, Lollar D, Bjorck-Akesson E, Hollenweger J, Martinuzzi A (2003) Applying the international classification of functioning, disability and health (ICF) to measure childhood disability. Disabil Rehabil 25: 602–610.

SECTION II BODY STRUCTURES AND FUNCTIONS

3

NOVEL NEUROIMAGING TOOLS

Catherine Limperopoulos

What is the construct?

Magnetic resonance imaging (MRI) uses a strong magnetic field to align the nuclear magnetization of hydrogen protons in water in organ systems (e.g. the brain). Application of a radiofrequency pulse then alters the alignment of this magnetization, causing the hydrogen nuclei to produce a rotating magnetic field, which is detectable by the scanner.¹ A magnetic resonance image is then produced because the protons in different tissues return to their baseline (equilibrium state) at different rates. When the radiofrequency wave is turned off, the net magnetization is realigned through a process of T1 or T2 recovery or relaxation properties. The T1- or T2-weighted image is mainly determined by the repetition time of the pulse sequence. Different tissues have different T1 or T2 recovery. For example, T1-weighted images have a larger longitudinal and transverse magnetization; fat has a higher signal and will appear bright on a T1-weighted image, whereas water (e.g. cerebrospinal fluid) will appear dark on T1-weighted images. Similarly, cerebral grey matter will appear darker and white matter will appear brighter on T1-weighted images. Conversely, on T2-weighted images, water- and fluid-containing tissues will appear bright and fat will appear dark, while cerebral grey matter will appear brighter than white matter.

One of the advantages of MRI as a clinical and research tool is that it is non-invasive and does not use ionizing radiation, which is potentially harmful. This built-in safety feature makes MRI an ideal tool for imaging healthy children or children with developmental disabilities. Additionally, MRI of the brain increasingly plays an important role in (1) understanding the progression of normal brain development, (2) defining the nature, location and extent of cerebral injury or maldevelopment in children with developmental disabilities, (3) assisting with prognostication by identifying imaging biomarkers that predict adverse neurodevelopmental outcome and (4) guiding the implementation of targeted medical (e.g. pharmacological and rehabilitation) therapies aimed at restoring function or monitoring interventions aimed at circumventing brain injury.

CONVENTIONAL MRI IN CHILDREN WITH DEVELOPMENTAL DISABILITIES

Conventional MRI has the potential to identify normal and pathological brain morphology and provide objective information about the structure of the developing brain in children with developmental disabilities. The identification of congenital malformations of the brain can assist with determining causation, prognosis and the need for genetic counselling.² To date, the neuroradiological work-up of children with developmental disabilities has demonstrated an important role for MRI. Although earlier neuroimaging studies generally reported brains to be structurally normal in appearance in this population irrespective of the type and severity of the delay, recent studies have reported a high incidence of MRI brain abnormalities that are generally minor or subtle in severity (e.g. asymmetrical lateral ventricles, megacisterna magna, diffuse increase in white matter signal, abnormal corpus callosum, cerebellar abnormalities).³–⁹ Children with idiopathic developmental delay have been shown to have a high prevalence of abnormalities in the ventricles and corpus callosum.⁵ MRI abnormalities have been strongly correlated with the presence of neurological signs, but not with isolated abnormal head circumference.³,⁴

More recently, proton magnetic resonance spectroscopy (¹H-MRS) has been combined with conventional MRI as part of the neuroimaging evaluation of children with developmental disabilities. MRS non-invasively evaluates the metabolic status of brain tissue in vivo. Owing to the simplicity and robustness of their detection, peaks of N-acetylaspartate (NAA, neuronal marker), choline (Cho, marker of myelination), creatine (Cr, marker of cellular metabolism) and lactate (marker of anaerobic metabolism) are investigated in most studies. Several studies have reported ¹H-MRS abnormalities in children with developmental disabilities, including a decreased NAA/Cr ratio and an elevated Cho/Cr ratio as well as higher choline in the white matter,³,⁴,¹⁰,¹¹ suggesting delayed myelination. From a clinical perspective, these data suggest that performing conventional MRI studies together with MRS has diagnostic value and may contribute to the diagnostic yield in children with developmental disabilities.

Factors to consider when measuring this domain

The human brain is not fully developed at birth. In fact, brain development comprises a continuum that unfolds through the lifespan, albeit most strikingly and dynamically during the fetal and early postnatal periods.¹² During these critical periods, the fundamental neural architecture is laid down and subsequent fine-tuning of neuronal networks takes place.¹³ This protracted time course of human brain maturation extends beyond the first decade of life. For example, although it has been suggested that the most rapid pace of maturation of white matter occurs during the first 2 years of life, studies have shown that the process of white matter myelination continues through adolescence and well into adulthood.¹⁴,¹⁵ Therefore, an understanding of normal or typical brain development and variability in developmental milestones of brain maturity is essential in order to understand the timing, extent and progression of aberrant development in children with developmental disabilities.

Another important consideration when imaging a child with a developmental disability for an aetiological determination is the presence of acquired injury to the developing brain or developmental abnormalities. Adverse events during the first and second trimesters affect the brain during critical periods of neuronal proliferation, migration and cortical organization, resulting in brain malformations. Conversely, injury in the third trimester typically results in acquired injury that may be in the form of glottic or cystic lesions of the brain, primarily affecting the white matter.¹⁶ Late third-trimester injury (after 36 weeks of gestation) predominantly affects the cortical and subcortical grey matter. It is important to note that this grey–white matter classification is now believed to be less distinct, and that there is overlap between lesion types and timing periods.

Reorganization or plasticity after early brain injury also needs to be considered when interpreting MRI studies. Importantly, it is often unclear whether compensation occurs as an alteration of an already existing network (i.e. reorganization) or whether the lesion alters the normal developmental trajectory, leading to a primary abnormal organization.¹⁶

Lastly, every morphometric MRI measure by which the brain may be characterized is dependent upon the developmental stage. Moreover, the developing brain undergoes massive transformation from conception to adult life. Accordingly, keeping in mind that the developmental trajectory of the normal brain is a ‘moving’ target, there are unique challenges in interpreting paediatric MRI studies.

Overview of recommended measures

The recent successful application of advanced MRI techniques in young children is providing an unprecedented window to better understand the developing brain in vivo. Over the last decade, there has been rapid advancement in magnetic resonance image acquisition and in the development of dedicated image analysis tools for the quantification of brain development in children. A number of novel MRI measures/tools are now available to evaluate brain structure and function in children with developmental disabilities. These tools, summarized below, are revolutionizing our understanding of how the developing human brain unfolds throughout childhood, and of its functional correlates.

VOLUMETRIC MEASUREMENTS: THREE-DIMENSIONAL MRI

Three-dimensional volumetric MRI techniques and postacquisition image analysis are used to quantify brain growth and characterize brain tissue development. Volumetric MRI analysis is achieved by segmentation of the brain volume into tissue types depending on their difference in signal intensity, followed by three-dimensional renderings. This analysis includes global (e.g. total brain volume) and tissue-specific volumes (e.g. cortical grey matter, white matter, subcortical grey matter, cerebrospinal fluid) to characterize impaired growth in specific tissue subtypes that yield local information about neuronal and axonal development (Fig. 3.1). Additionally, regional brain volumetric measures (e.g. premotor region, dorsolateral prefrontal region) can be performed (Fig. 3.2). Surface-based measures can also be obtained. For example, surface representation of the cerebral cortex can be made by measuring cortical thickness, which provides information about the columnar dimension of cortical organization.¹⁴,¹⁷ MRI-based cortical thickness quantification follows cortical folding patterns and captures the distance between white matter surface and pial grey matter surface, producing scalar measures throughout the cerebrum¹⁸–²⁰ (Fig. 3.3).

Figure 3.1 Three-dimensional volumetric segmentation of the brain in coronal (left), sagittal (middle) and axial (right) planes. Dark grey, cortical grey matter; light grey, white matter; white, subcortical grey matter.

Figure 3.2 Parcellation of the brain into eight regions. DPF, dorsolateral prefrontal region; IO, inferior occipital region; MT, midtemporal region; OF, orbitofrontal region; PM, premotor region; PO, parieto-occipital region; SG, subgenual region; SM, sensorimotor region.

Figure 3.3 Cortical thickness measurements with corresponding scalar values measured in millimetres.

VOXEL-BASED MORPHOMETRY

Voxel-based morphometry is a relatively new image-processing technique used to