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This page intentionally left blank
 DEVELOPMENTAL LANGUAGE
DISORDERS: FROM PHENOTYPES
TO ETIOLOGIES

Edited by

Mabel L. Rice
Steven F. Warren
University of Kansas

LAWRENCE ERLBAUM ASSOCIATES, PUBLISHERS

2004 Mahwah, New Jersey London
Copyright © 2004 by Lawrence Erlbaum Associates, Inc.
All rights reserved. No part of the book may be reproduced in
any form, by photostat, microfilm, retrieval system, or any other
means, without the prior written permission of the publisher.

Lawrence Erlbaum Associates, Inc., Publishers

10 Industrial Avenue
Mahwah, New Jersey 07430

Cover design by Kathryn Houghtaling Lacey

Library of Congress Cataloging-in-Publication Data

Developmental language disorders : from phenotypes to etiologies / edited by Mabel L.
Rice and Steven F. Warren.
p. cm.
Includes bibliographical references and index.
ISBN 0-8058-4662-X (cloth : alk. paper)
1. Language disorders in children—Congresses. 2. Language disorders in
children—Etiology—Congresses. 3. Child development deviations—Congresses.
4. Phenotype—Congresses. 5. Children—Language—Congresses. I. Rice, Mabel.
II. Warren, Steven F.
RJ496.L35D485 2004
618.92'855—dc22 2004040430
CIP

Books published by Lawrence Erlbaum Associates are printed on acid-free paper,

and their bindings are chosen for strength and durability.

Printed in the United States of America

10 9 8 7 6 5 4 3 2 1
Contents

Preface ix

1 Introduction 1
Mabel L. Rice and Steven F. Warren

I: PHENOTYPES OF LANGUAGE IMPAIRMENTS

WITHIN CLINICAL DIAGNOSES

2 Trajectory of Language Development

in Autistic Spectrum Disorders 7
Catherine Lord, Susan Risi, and Andrew Pickles

3 Do Autism and Specific Language Impairment

Represent Overlapping Language Disorders? 31
Helen Tager-Flusberg

4 Dimensions of Individual Differences in Communication

Skills Among Primary Grade Children 53
/. Bruce Tomblin, Xuyang Zhang, Amy Weiss, Hugh Catts,
and Susan Ellis Weismer
vi CONTENTS

5 Language, Social Cognition, Maladaptive Behavior,

and Communication in Down Syndrome
and Fragile X Syndrome 77
Leonard Abbeduto and Melissa M. Murphy

6 Investigating Knowledge of Complex Syntax: Insights

From Experimental Studies of Williams Syndrome 99
Andrea Zukowski

7 Research on Fragile X Syndrome and Autism:

Implications for the Study of Genes, Environments,
and Developmental Language Disorders 121
Donald B. Bailey, Jr., Jane E. Roberts, Stephen R. Hooper,
Deborah D. Hatton, Penny L. Mirrett, Joanne E. Roberts,
and Jennifer M. Schaaf

II: INVESTIGATING LANGUAGE IMPAIRMENTS

ACROSS DIAGNOSTIC CATEGORIES

8 Cross-Etiology Comparisons of Cognitive

and Language Development 153
Carolyn B. Mervis

9 Intervention as Experiment 187

Steven F. Warren

10 Growth Models of Developmental Language Disorders 207

Mabel L. Rice

11 Linguistics and Linking Problems 241

Colin Phillips

III: NEURAL, GENETIC, AND BEHAVIORAL

ELEMENTS OF INHERITED FACTORS

12 Genes, Language Disorders, and Developmental

Archaeology: What Role Can Neuroimaging Play? 291
Ralph-Axel Midler
CONTENTS Vll

13 Localization and Identification of Genes Affecting

Language and Learning 329
Shelley D. Smith

14 Genotype-Phenotype Correlations: Lessons

From Williams Syndrome Research 355
Colleen A. Morris

IV: RESEARCH ACTION STEPS FOR THE SHORT

AND LONG TERM

15 Next Steps in the Study of Genetics

and Language Disorders 373
Peggy McCardle and Judith Cooper

Author Index 381

Subject Index 405

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Preface

The chapters in this volume are the product of a conference sponsored

by the Merrill Advanced Studies Center of the University of Kansas. This
volume joins other books in the Merrill series on topics of import for a
better understanding of various disabilities and research methods across
the lifespan:

• Toward a Genetics of Language (1996)—edited by Mabel L. Rice;

• Constraints on Language: Aging, Grammar, and Memory (1999)—edited
by Susan Kemper and Reinhold Kliegl;
• Aging, Communication, and Health: Linking Research and Practice for Suc-
cessful Aging (2001)—edited by Mary Lee Hummert and Jon F.
Nussbaum;
• Self-Injurious Behavior: Gene-Brain-Behavior Relationships (2002)—ed-
ited by Stephen R. Schroeder, Mary Lou Oster-Granite, and Travis
Thompson;
• The Connections between Language and Reading Disabilities (forthcom-
ing)—edited by Hugh W. Catts and Alan G. Kamhi.

The conference was motivated by the observation that in the last 10

years there have been important advances in our understanding of inher-
ited and environmental components of language disorders in children.

IX
X PREFACE

This involves significant research in behavioral phenotypes, associated

neurocortical processes, and the genetics of language disorders. These ad-
vances, in turn, can provide a foundation for further breakthroughs in un-
derstanding the reasons for overlapping etiologies as well as the truly
unique aspects of some phenotypes. The potential is limited, however, by
the fragmented way that current findings are disseminated in a scientific
literature partitioned by diagnostic categories of affectedness.
The authors are scholars with active programs of research funded by
the National Institutes of Health (NIH) involving diverse clinical groups
of children with language impairments. They convened in Tempe, Ari-
zona, in May 2002 to summarize discoveries from their ongoing programs
of research, capture the converging outcomes and common scientific gaps
or challenges, and suggest new directions of research for enhancing our
understanding of the nature and etiology of developmental language dis-
orders. As the chapters in this volume attest, there are vital and exciting
new discoveries underway, along with substantive reworking of old as-
sumptions, as the study of language impairments moves toward better be-
havioral description, brain imaging, genetics, and intervention technolo-
gies. For many of the participants, it is both enlightening and exciting to
realize how much discovery is now underway. At the same time, we are
aware that discoveries do not have a common pathway for dissemination,
and it is difficult in the press of an active research program to stay abreast
of the wide range of literatures and emerging conceptualizations. This
volume provides an example of a common pathway in the hope that it will
inspire others to follow.
In a time of e-mail communication, we are also reminded that it is a
valuable experience to bring scholars together for actual discussions and
reactions to each other's work in a relaxed setting. The logistics require
the assistance of many people. We wish to express our deep appreciation
to Fred and Virginia Merrill for their generous support of the Merrill Ad-
vanced Studies Center, their personal interest in the proceedings, and
their far-sighted vision of the future needs of discovery research on the
topic of disabilities across the lifespan. We thank the members of the
Board of the Merrill Advanced Studies Center for their oversight and
good advice: Melinda Merrill; Richard Schiefelbusch, Distinguished Pro-
fessor Emeritus; Robert Barnhill, Vice Provost for Research, University
of Kansas; Kathleen McCluskey-Fawcett, Senior Vice Provost, Univer-
sity of Kansas; and Kim Wilcox, Dean of the College of Liberal Arts and
Sciences, University of Kansas. Joy Simpson provided gracious and
highly effective assistance with the organization of the conference, com-
munication with the participants, and oversight of the many details that
ensure a conference proceeds in a way that allows people to focus on the
PREFACE xi

discussions and not the logistics. She also provided technical editing for
the preparation of the manuscripts. Patsy Woods, among her other du-
ties, manages the budget and pays the bills to the great appreciation of
all involved.

—Mabel L. Rice
Steven F. Warren
This page intentionally left blank
 1
Introduction
Mabel L. Rice
Steven F. Warren
University of Kansas

The investigation of language impairments in children has an extensive

record. With the exception of the condition now classified as specific lan-
guage impairment (SLI), much of the literature has focused on the clini-
cal conditions in which language impairment appears as a concomitant
condition, such as Down syndrome, Williams syndrome, mental retarda-
tion, autism, and, more recently, fragile X syndrome. Funding for re-
search and the associated culture of review has, within the United States
at least, been defined more by the clinical categories than the common el-
ements of language impairment. This separation of effort has led to im-
portant and fundamental discoveries and has had many advantages, not
the least of which is the successful advocacy of funding according to di-
agnostic category.
This approach to scholarship is less effective in the modern era because
advances in genetics necessitate precision in the measurement of the be-
havioral phenotypes, and the fact that language impairments cross many
diagnostic categories and can obscure the genetics of intellectual impair-
ment, social competencies, or other related attributes. Furthermore, lan-
guage is a key predictor of developmental outcomes and a salient way for
families to note affectedness. New insights about genetic effects bring
increased recognition of the finely tuned interactions of neurocortical, ge-
netic, and behavioral elements of inherited factors, and the role of envi-
ronmental events such as intervention. On the other hand, new develop-
ments in linguistic theory and application to children with language
2 RICE AND WARREN

impairments have added substantively to what is known about the capac-

ity for human language. Yet this line of work is not fully incorporated into
other areas of inquiry.
In this context, knowledge of new discoveries across a wide array of
studies is essential. This is particularly so when large collaborative efforts,
both expensive and time-consuming, are mounted to explore the interface
of genetics, the brain, and the environment. Just as efforts are ongoing to
ensure that new findings on the human genome are made available
quickly to inform the work of others, there is the need to bring together
current and converging outcomes of research across behavioral pheno-
types with areas of shared variance.
This volume provides such a collection from a group of investigators
who each have ongoing programs of investigation that have met the peer
review standards of the National Institutes of Health (NIH). The clinical
categories in this volume were selected because there is a healthy momen-
tum of currently funded inquiry into those categories. They are: autism
spectrum disorders, SLI, Down syndrome, fragile X syndrome, and Wil-
liams syndrome. This is not, of course, an exhaustive list of clinical condi-
tions in which language impairment appears, but it does provide a begin-
ning for examining common issues across conditions.
Section I provides a series of chapters that address the phenotypes of
language impairments (i.e., the ways in which language impairments are
manifest in different conditions), including brief overviews of the clinical
category and some of the investigators' current work. The two opening
chapters cover recent findings on autism spectrum disorders. Catherine
Lord, Susan Risi, and Andrew Pickles (chap. 2) provide an overview of the
condition, highlight the range of language abilities of diagnosed children,
and discuss developmental questions about language acquisition in these
youngsters, including evidence of apparent regression in language abili-
ties. Helen Tager-Flusberg (chap. 3) examines the question of possible
overlap of autism and SLI as diagnostic categories, with particular refer-
ence to the similarity of language symptoms at the boundaries of the two
conditions. Bruce Tomblin, Xuyang Zhang, Hugh Catts, Susan Ellis
Weismer, and Amy Weiss (chap. 4) discuss the issue of individual differ-
ences among children with developmental language disorders and com-
pare factor analytic outcomes to previously proposed taxonomic systems
in a search for best-fit subgrouping criteria. Leonard Abbeduto and Me-
lissa Murphy (chap. 5) compare the symptoms of language impairment
and related developmental domains in children with Down syndrome
and fragile X syndrome. Andrea Zukowski (chap. 6) describes her recent
investigation of complex syntax knowledge in children with Williams
syndrome to make a case for fine-grained linguistic investigation to docu-
ment the linguistic knowledge and limitations of affected children. Don-
1. INTRODUCTION 3

aid Bailey, Jane Roberts, Stephen Hooper, Deborah Hatton, Penny Mirrett,
Joanne Roberts, and Jennifer Schaaf (chap. 7) summarize their program of
research on fragile X and autism, as well as the implications for our under-
standing of the role of genes and environmental elements in developmen-
tal language disorders.
Section II includes issues that bridge different diagnostic categories.
This includes methodological issues involved in studies comparing differ-
ent clinical groups (Carolyn Mervis, chap. 8); intervention as an experi-
mental means to investigate the phenotypes and gene/environment inter-
actions (Steve Warren, chap. 9); growth and related timing mechanisms as
a central feature of language impairment across conditions (Mabel Rice,
chap. 10); and linguistic issues in language impairments (Colin Phillips,
chap. 11).
Section III extends the perspective to brain development and plasticity
related to language impairments (Ralph-Axel Miiller, chap. 12); methods
of genetic investigation (Shelley Smith, chap. 13); and discussion of the
complexities of genotype/phenotype relationships in Williams syndrome
(Colleen Morris, chap. 14).
Section IV ends the volume with a look toward the future; it offers a
synthesis of the content in terms of the perceived needs for the next steps
in research and inquiry. Peggy McCardle, of the National Institute of
Child Health and Human Development (NICHD), and Judith Cooper, of
the National Institute on Deafness and Other Communication Disorders
(NIDCD), bring their extensive experience with NIH research sponsor-
ship to these remarks.
Each chapter in this volume stands on its own merits. Yet we believe
the whole of the volume is greater than the sum of the parts. Taken to-
gether, these chapters reflect an emerging convergence in terms of concep-
tual approaches, methods, and measures; this enhances our understand-
ing of the role language plays in the gene-brain-behavior-environment
interactions that ultimately determine development. As an accurate re-
flection of the knowledge level of the field, these chapters tend to raise
more questions than they answer. This is as it should be. The right ques-
tions and the methods to answer them will invariably lead us in exactly
the direction we want to go.
This page intentionally left blank
PHENOTYPES OF LANGUAGE
IMPAIRMENTS WITHIN
CLINICAL DIAGNOSES
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