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Capute & Accardo's Neurodevelopmental Disabilities in Infancy and Childhood, Third Edition: Volume I: Neurodevelopmental Diagnosis and Treatment


Capute & Accardo's Neurodevelopmental Disabilities in Infancy and Childhood, Third Edition: Volume I: Neurodevelopmental Diagnosis and Treatment

Neurodevelopmental Diagnosis and Treatment
Volume Editor: Pasquale J. Accardo   Invited Contributors: Jennifer A. Accardo, Pasquale J. Accardo, Marilee C. Allen, Claudine Amiel-Tison, Harolyn M.E. Belcher, Peter A. Blasco, Thomas A. Blondis, Joann N. Bodurtha, Colleen Boyle Ph.D., Ewa Brandys, Errol J. Candy, George T. Capone, John C. Carter, Thomas D. Challman, James Christensen, Ann W. Cox Ph.D., RN, Cecilia T. Davoli, Iser DeLeon Ph.D., Larry W. Desch M.D., Julie Gosselin O.T., Ph.D., Hilary Gwynn, Alexander H. Hoon Jr., M.D., Chris Plauche´ M.Ed., M.D. Johnson, Daniel C. Johnson, Sonja Johnson-Brooks Ph.D., Michael V. Johnston, SungWoo Kahng Ph.D., Walter E. Kaufmann, Richard I. Kelley, Shelly J. Lane Ph.D., OTR/L, F, Christopher T. Leffler, Mary O'Connor Leppert, David N. Lieberman, Doris D.M Lin, Paul H. Lipkin, Thomas R. Montgomery, Olga Morozova, Michael E. Msall, Emily R. Msall, Scott M. Myers M.D., Frederick B. Palmer, Sandra A. Palomo-Gonzalez Ph.D., Joan E. Pellegrino M.D., Louis Pellegrino M.D., Joseph S. Pidcock, Nancy J. Roizen M.D., Erin M. Rosier, Cristina Sadowsky, Cynthia Salorio Ph.D., Michael Schertz, Bruce K. Shapiro M.D., Peter J. Smith M.D., M.A., Usha T. Sundaram, Edwin Trevathan, Melissa K. Trovato M.D., Kim Van Naarden Braun Ph.D., Robert G. Voigt, Toni M. Whitaker, Marshalyn Yeargin-Allsopp

ISBN: 978-1-55766-756-4
Pages: 704
Copyright: 2007
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Expanded with coverage of today's most critical topics and written by more than 90 physician experts, this is the first of two volumes comprising the third edition of the core text for certification in neurodevelopmental disabilities in pediatrics. The most complete textbook available on this subject, this definitive resource prepares future clinicians to skillfully assess and treat a range of neurodevelopmental disabilities in infants and children.

In Volume I, students and professionals will get extensive information on critical topics such as

  • brain development
  • the epidemiology of developmental disabilities
  • genetics
  • prematurity
  • fetal alcohol syndrome
  • neonatal neurodevelopmental assessment and screening
  • family functioning
  • early intervention and its efficacy
  • behavior management
  • psychopharmacology
  • ethical issues
  • legislative directives and trends
  • and more

A necessary textbook for academic pediatrics and a must-have desk reference for every practicing pediatrician, this authoritative resource will help clinicians ensure the best possible care for children with neurodevelopmental disabilities.

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Review: ADVANCE for Physical Therapists & PT Assistants
Not quoatable for website: Vol. 1 has brought together a myriad of professionals to author this comprehensive text. The first volume is useful for its comprehensive foundational facts regarding normal neurodevelopment, assessment tools and the diagnoses encountered.
Review by: T. Berry Brazelton, Professor of Pediatrics, Emeritus Harvard Medical School, Children's Hospital Boston, Founder, Brazelton Touchpoints Center
"All physicians who work with children should have this as a reference . . . covers our present knowledge of neurodevelopmental disabilities and is a firm base for the rapidly developing field."
Contents, Volume II
Editorial Board
Contributors, Volume I
Introduction

I. Introduction

  1. A Neurodevelopmental Perspective on the Continuum of Developmental Disabilities
    Pasquale J. Accardo, Jennifer A. Accardo, and Arnold J. Capute


  2. Human Brain Development
    George T. Capone and Walter E. Kaufmann

II. Scientific Basis

  1. The Epidemiology of Developmental Disabilities
    Marshalyn Yeargin-Allsopp, Colleen Boyle, Kim Van Naarden Braun, and Edwin Trevathan

  2. Genetics
    Usha T. Sundaram and Joann N. Bodurtha

  3. Metabolic Diseases and Developmental Disabilities
    Richard I. Kelley

  4. Neonatal Encephalopathy
    Michael V. Johnston

  5. Genetic Intellectual Disability: Neurobiological and Clinical Aspects
    Walter E. Kaufmann, George T. Capone, John C. Carter, and David N. Lieberman

  6. Human Behavior Genetics: Implications for Neurodevelopmental Disorders
    Barbara Y. Whitman

III. Etiologies

  1. Prematurity
    Marilee C. Allen

  2. Congenital Infections
    Nancy J. Roizen and Daniel C. Johnson

  3. Children Born to Drug-Dependent Mothers
    Harolyn M.E. Belcher and Sonja Johnson-Brooks

  4. Fetal Alcohol Syndrome and Related Disorders
    Joan E. Pellegrino and Louis Pellegrino

  5. Plumbism: Elevated Lead Levels
    Cecilia T. Davoli

IV. Assessment

  1. The Developmental History
    Toni M. Whitaker and Frederick B. Palmer

  2. The Dysmorphology Examination
    Thomas R. Montgomery

  3. The Amiel-Tison and Gosselin Neurological Assessment from Birth to 6 Years of Age
    Claudine Amiel-Tison and Julie Gosselin

  4. The Neonatal Neurodevelopmental Examination
    Marilee C. Allen

  5. Neurodevelopmental Assessment of Infants and Young Children
    Bruce K. Shapiro and Hilary Gwynn

  6. The Capute Scales
    Mary L. O’Connor Leppert

  7. Developmental Screening: The Pathway to Early Identification
    Mary L. O’Connor Leppert and Erin M. Rosier

  8. Neurodevelopmental Assessment of School-Age Children
    Thomas R. Montgomery

  9. Functional Assessment in Neurodevelopmental Disabilities
    Michael E. Msall and Emily R. Msall

  10. Family Functioning
    Barbara Y. Whitman

  11. Neuroradiology
    Errol J. Candy, Alexander H. Hoon, Jr., and Doris D.M. Lin

  12. Visual Impairment
    Christopher T. Leffler

V. Practice Issues

  1. Early Intervention and Its Efficacy
    Paul H. Lipkin and Mitchell Schertz

  2. Behavior Management
    SungWoo Kahng and Iser G. DeLeon

  3. Psychopharmacology: An Approach to Management in Autism and Intellectual Disabilities
    Scott M. Myers and Thomas D. Challman

  4. Traumatic Brain Injury
    James Christensen, Melissa K. Trovato, Cynthia Salorio, Ewa Brandys, Olga Morozova, Cristina Sadowsky, and Frank S. Pidcock

  5. Acquired Spinal Cord Dysfunction
    Cristina Sadowsky, Frank S. Pidcock, Ewa Brandys, Olga Morozova, Melissa K. Trovato, Cynthia Salorio, and James Christensen

  6. Neurorehabilitation
    Cynthia Salorio, Ewa Brandys, Olga Morozova, Frank S. Pidcock, Melissa K. Trovato, Cristina Sadowsky, and James Christensen

  7. Sensory Integration
    Shelly J. Lane

  8. The Spectrum of Assistive and Augmentative Technology for Individuals with Developmental Disabilities
    Larry W. Desch

  9. Nonstandard Therapies in Developmental Disabilities
    Thomas D. Challman, Robert G. Voigt, and Scott M. Myers

  10. Ethical Issues in Disabilities
    Peter J. Smith

  11. Legislative Directives and Trends
    Ann W. Cox

  12. International Adoption
    Cecilia T. Davoli

  13. Supports for Families of Children with Disabilities
    Peter A. Blasco, Chris Plauché Johnson, and Sandra A. Palomo-Gonzalez

Index

Excerpted from Chapter 1 of Capute & Accardo's Neurodevelopmental Disabilities in Infancy and Childhood, Third Edition: Volume I. Neurodevelopmental Diagnosis and Treatment, edited by Pasquale J. Accardo, M.D.

Copyright© 2008 by Paul H. Brookes Publishing Co. All rights reserved. No part of this excerpt may be reproduced or reprinted without permission in writing from the publisher.

Implicit in the term developmental is the effect of time. Development is a rate phenomenon. Even though a child's developmental rate may appear stable, the component behaviors exhibit a complex evolution over time. The resulting interweaving of continuity and change can appear confusing and may complicate both diagnosis and prognosis. An example of a child with attention-deficit/ hyperactivity disorder (ADHD) and a specific learning disability will help clarify the difficulties (Figure 1.1).

Whereas severe neurodevelopmental disorders are easy to diagnose, with appropriate intervention and support typically initiated in early infancy, milder central nervous system (CNS) impairment is frequently misinterpreted by both professionals and parents as inadequate parenting. Regardless of how challenging the irritability of an infant is to parents, the subsequent clumsiness, disarticulation, and hyperactivity of the toddler tend to be viewed as an entirely new set of problems-and one that reconfirms the perception of parental inadequacy. Preschool behavior problems can set the stage for misinterpreting the academic underachievement that follows. By the time an accurate, comprehensive diagnosis is made, secondary emotional complications such as learned helplessness and possibly depression may render late intervention more difficult.

Underlying any ostensible change in the condition of a child with a neurodevelopmental disability is the permanent CNS impairment. The more severe the degree of intellectual disability, the more stable the intelligence quotient (IQ) over time. Disorders of attention and learning (disorders of higher cortical functioning) also exhibit continuity over time; for example, fairly constant rates of reading acquisition are reported for specific learning disorder in reading. The persistence of the neurodevelopmental disability into adulthood contributes to the impact of secondary emotional diagnoses. Although the underlying CNS pathology remains constant, both the manner in which a neurodevelopmental disability presents clinically and the priorities on the child's problem list will change over time. Helping families and involved professionals comprehend this evolving temporal expression represents a major goal of neurodevelopmental pediatrics. Before breaking up the process of neurodevelopment into its phenomenological components, it is necessary to stress the importance of the forest over the trees. There is effectively no practical limit to the potential number of gene defects and organic brain syndromes that could contribute to neurodevelopmental disabilities, nor is there any anticipated ceiling on the number of odd and atypical behaviors, splinter skills, and unique stereotypies that may at first defy explanation. However, understanding and interpretation of the global pattern and what influences it represent the fundamental goals of neurodevelopmental pediatrics. The number of basic patterns is quite limited, but variety and novelty are not absent from their presentations. Unexpected curves have been described, and the diversity hidden within many rare genetic syndromes is only beginning to be explored (Figure 1.2). The roots of this diversity lie in the interaction among four levels or paradigms of the developmental process: 1) the three developmental phenomena of delay, dissociation, and deviance; 2) the streams of development; 3) the spectrum and continuum of developmental disorders; and 4) patternological diagnosis.

DELAY, DISSOCIATION, AND DEVIANCE

What mothers worry most about in young children are a perceived lateness in achieving certain developmental milestones and an unevenness or peculiarity in the way their children achieve these milestones. These parental concerns appropriately presume the normative, orderly, and sequential process of child development within well-recognized age cutoffs. In addressing such parental concerns in a clinically responsible manner, the neurodevelopmental pediatrician attempts to understand and interpret both individual milestones and milestone sequences in terms of delay, dissociation, and deviance.

Developmental quotient (DQ) is used to quantify lags in development. This consists simply of a ratio: the child's functional age equivalent in one or more areas of development divided by the child's chronological age. DQ may be perceived to imply rate—a child with a DQ of 50 in expressive language could easily be assumed to have acquired milestones in speech at half the rate of his or her typically developing peers. This is a potentially misleading interpretation as the rate may have been stable over time, accelerated, or altered by regression (see Figure 1.2). Detailed developmental history and multiple assessments separated in time are required to determine a clinically predictive developmental rate.

Delay refers to a significant lag in one or more areas of development, and sometimes a global delay across all areas of development. When using a DQ to quantitate the degree of delay, cutoff points for concern, further evaluation, and intervention will depend on any concurrent medical diagnoses, the age of the child, previous therapeutic response, and the specific areas of delay. If an infant is progressing at or below a DQ of 80 and this degree of delay is confirmed on two consecutive examinations, serious consideration should be given to a comprehensive neurodevelopmental assessment. If the DQ is 60 or below in any single area of development, then a full assessment is indicated. Global retardation refers to a DQ of 70 or less in all of the streams of development; in infancy, it presents with a DQ below 70 in both the language and problem-solving components of assessments such as The Capute Scales (see Chapter 19, this volume).

The degree of delay has biological implications. For children with DQs below 50 in a given area, it is often easy to find a cause through evaluation for organic etiology, even if it is "presumed genetic syndrome." However, this can contribute to a misunderstanding of the role of organic CNS damage in developmental delay by presuming the precedence of emotional, sociocultural, or environmental factors alone for children with DQs in the 50-75 range. Logic and common sense would suggest that mild but real brain damage leading to less severe neurodevelopmental disabilities should occur much more frequently than severe brain damage and severe disabilities. Recent research in twins has indeed described a much higher percentage of people with mild intellectual disabilities and slow learners, or those with " borderline" intellectual disabilities, as having genetic-based etiologies. Thus, although severity of delay appears to be directly correlated with the ease of identifying a specific organic etiology, the absence of an identified specific etiology in cases of milder delays does not necessarily imply nonorganic etiologies (Table 1.1).

Dissociation is manifested by a difference between the developmental rates of two streams of development, with one stream significantly more delayed. If severe intellectual disability is present, language is often more delayed than motor-dependent skills. In communication disorders and pervasive develop mental disorders, language abilities typically lag behind visual-motor problem solving. The dissociation phenomenon is most often observed in older children with learning disabilities. In these children, school underachievement reflectsanunderlying dissociation between academic achievement and general intellectual potential (Table 1.2). Significant dissociation is probably more common among people with various degrees of intellectual disability than are learning disabilities among the general population, but education tends to downplay the importance of this phenomenon by its insistence that learning disability and intellectual disability are mutually exclusive educational classifications. They are in fact neurologically quite compatible.

In a more individual context, the term dissociation is sometimes used to refer to the breaking of an expected linkage or coupling between given milestones. This type of dissociation is typically indicative of inadequacies in parental reporting or professional elicitation of the milestones. For example, in 2-year-olds, a 50-word vocabulary is linked to the use of 2-word phrases. When a parent reports either a 100-word vocabulary with no 2-word phrases or a 25-word vocabulary with several 2-word phrases, the linked milestones have been dissociated, or uncoupled. On further investigation, parental recollection of one or both milestones will usually be found to be incorrect; however, in some children with neurodevelopmental disabilities, this uncoupling may represent deviancy or isolated splinter skills, such as inflated rote auditory memory. In children with disabilities and spuriously large vocabularies, an unusually high proportion of their spoken words tend to be personal names.

Deviancy is manifested by nonsequential unevenness in the achievement of milestones within one or more streams of development. The phenomena of delay and dissociation present nothing intrinsically abnormal in their sequences: the delayed milestones are attained in a fashion indistinguishable from what would be expected in a typically developing younger child. But the nonsequential deviant pattern is not typical for any age. The more common examples of deviancy involve failing simple items in a given developmental sequence while passing more difficult items. In formal psychometrics, this presents as the phenomenon of "double basals" or "double ceilings. " Alternatively, a child may appear to perform well in one area of development that depends on another area of development in which he or she performs poorly. This latter form of deviancy is usually illusory. For example, expressive language skills cannot be more mature than receptive language skills: neither children nor adults can say more than they can understand. Whenever this contradictory situation is reported, alternative explanations should be sought. Artificially inflated rote expressive language skills are typical of communication disorders, pervasive developmental disorders, certain genetic syndromes such as Williams syndrome, and hydrocephalus.

In school-age children with learning disabilities, intelligence tests can reveal verbal performance or inter-subtest score scatter, or dissociation. It is not uncommon also to find intra-subtest score scatter or deviancy. One of the factors that contribute to such deviancy is the presence of rote sequencing abilities at a functional level that is superior to discrimination or comprehension skills. This kind of disproportion can be observed at a fairly early age. For example, an 18-month-old infant may demonstrate a vocabulary of 30 words (above age level) coupled with immature use of jargon (a 15-month skill). This pattern suggests a good auditory rote memory accompanied by a weakness in connected language and possibly verbal comprehension. Attentional deficits can contribute to extreme irregularities (and unreliability) in formal psychometric testing of older children.

In the motor arena, deviancy may also be exemplified by the infant who rolls or flips over by 1 month of age. Rather than representing advanced motor ability, this premature milestone may reflect an abnormal tonic labyrinthine reflex that places the child at risk for a later motor diagnosis, such as cerebral palsy. Alternatively, it could be the result of opisthotonus, an ominous neurological sign. Premature standing when a child is unable to sit up alone may similarly indicate increased risk of motor disability resulting from lower extremity hypertonia. In addition to deviancy, which implies a lack of sequencing or an inversion of the typical expected pattern, there are certain signs and symptoms that suggest the presence of a neurodevelopmental disability (Table 1.3). The presence or history of any of these findings should be considered a risk marker for these disorders and should raise the possibility of formal neurodevelopmental assessment.

Although the term deviancy frequently has psychiatric implications to the layperson, no such connotations apply in neurodevelopmental disabilities. Even in autism, many characteristic behaviors represent deviancy in the neuromaturational sense. Still, some continue to misperceive autism as a psychoemotional disorder rather than an organic brain syndrome—a neurodevelopmental disability.

In infants and young children, the neurodevelopmental assessment attempts to interpret both historical milestones and current developmental performance in light of the three fundamental processes of delay, dissociation, and deviance. The mapping of these three processes onto the six streams of development will generate the spectrum and the continuum of developmental disabilities.

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