Understanding Williams Syndrome

Behavioral Patterns and Interventions

Eleanor Semel, Sue R. Rosner

• Publisher: Routledge
• Year: 2003
• ISBN:
  9781135685249
• Edition: 1
• Topic: Education
• Subtopic: Education General

Comprehensive and readable, Understanding Williams Syndrome: Behavioral Patterns and Interventions is an essential guide for all those professionally, scientifically, or personally involved with this so frequently misunderstood and underserved population--psychologists, psychiatrists, social workers, and other mental health professionals; special educators and vocational counselors; speech-language, physical, and occupational therapists; audiologists; physicians; and parents.In the last 20 years, Williams syndrome has captured the interest of large numbers of scientists and attracted considerable media attention in spite of its rarity (estimated at no more than one in 30, 000 births). Those diagnosed display a unique pattern of behavioral, cognitive, and physical limitations and strengths with fascinating neurogenetic implications--a pattern that poses enormous challenges to their parents and caregivers. The authors, a specialist in learning disabilities and a developmental psychologist, review basic information about Williams syndrome, its medical conditions, paradoxical profile, and neurobiological mechanisms; and discuss distinctive features of the language and perceptual and motor performance of children and adults with the syndrome. Other features include:
*Strategies for working with patients.
* An examination of the difference between Williams syndrome and other developmental disorders.
* Problem-specific alternatives for treatment.
* Analysis of new directions in research, clinical intervention, education, and systems for care delivery.
Throughout, they stress variations among individuals and subgroups in ability level, skills, talents, and problem severity; and emphasize the necessity of recognizing these components in planning treatment on an individual basis.

CHAPTER

1

Introduction

The frustrated efforts of five blind men trying to picture an elephant by exploring its separate parts are like the perplexed experts from various fields, each from their own perspective, trying to identify the critical features of Williams syndrome (WS). How is it possible to conceptualize a group of children who test as though retarded, speak as though gifted, behave sometimes as though emotionally disturbed, and function like the learning disabled? This is one of the enigmas that parents, teachers, professionals, and researchers face as they try to rear, teach, treat, and study individuals with WS.

On a more optimistic note, many of the puzzling features of WS are being demystified by research on the physical, medical, genetic, psychological, neurobiological, and psycho-educational aspects of WS. Investigation of the linkage between genes, brain, and behavior is particularly timely as the medical and scientific communities have become increasingly interested in the genome project and the problems of genetic disorders like WS (Bellugi, Wang, & Jernigan, 1994; Harris, 1995b; Lenhoff, Wang, Greenberg, & Bellugi, 1997).

But, just what is WS? How does it manifest itself? How is it related to other developmental disorders? And what types of intervention approaches are successful in dealing with the unusual profile that characterizes WS? These are the basic issues addressed in this book,

I. BACKGROUND ON WILLIAMS SYNDROME

Historical Overview

Initially identified as a condition involving a heart defect (supravalvular aortic stenosis, SVAS, or narrowing of major blood vessels), mental retardation, and stereotypic facial features, Williams syndrome is named after J.C. R.Williams, a cardiologist in New Zealand (Williams, Barrett-Boyes, & Lowe, 1961). It is also known as Williams-Beuren syndrome (WBS), after Dr. Beuren, mainly in Germany and on the continent (Beuren, 1972; Martin, Snodgrass, & Cohen, 1984). Some early articles associated the syndrome with idiopathic infantile hypercalcaemia, IIH (a type of retardation involving abnormal calcium metabolism), and a distinctive set of behaviors (Beuren, Apitz, & Harmanz, 1962; Jones & Smith, 1975; von Arnim & Engel, 1964). Since the mid-1980s, significant gains have been made toward understanding the neuropsychological, neurobiological, and psycho-educational features of WS (e.g., Arnold, Yule, & Martin, 1985; Bellugi, Marks, Bihrle, & Sabo, 1988; Morris, Demsey, Leonard, Dilts, & Blackburn, 1988).

Insight into the nature of WS culminated in the mid-1990s with its classification as a genetic disorder occurring in an estimated 1 in 20,000 to 50,000 births and involving a highly unusual set of characteristics (Mervis, Morris, Bertrand, & Robinson, 1999). These characteristics include distinctive facial and physical features, a unique cognitive profile, a singular mix of personality attributes, and an intriguing pattern of neurobiological findings. Despite its rarity, WS has captured the attention of researchers, professionals, and the media, including Oliver Sacks, probably due in part to its theoretical significance and practical implications. This is further motivated by the extraordinary charm of many individuals with WS (WSs), the exceptional dedication of numerous families, teachers, and others involved with them, and the impetus provided by the Williams Syndrome Association (WSA) of parents and professionals.

A. Distinctive Physical Features

Typically, children with WS (WSc) are very petite, “cute,” and attractive individuals with a “pixie-like” appearance. They are inclined to share many physical features, usually resembling each other more than members of their own families. Unlike children with other developmental disorders, WSc tend to lack physical stigmata. Instead, they often evoke positive responses from adults.

Facial Characteristics. WSs, particularly youngsters, tend to show a distinctive pattern of craniofacial or morphological features that is sometimes referred to as “elfin,” or “pixie,” facies (Jones & Smith, 1975; Lenhoff et al., 1997). Characteristics may include a broad forehead, prominent eyes, full cheeks, a wide mouth, a short-upturned nose, and large ears.

Their eyes tend to be set slightly closer together than average, with fullness (periorbital) around the eyes, and a small (epicanthal) fold of skin that overlaps the inner corner of the eye. The blue eyes of many WSs often feature a striking white pattern in the iris that looks like a lacy starburst (stellate iris).

WSc often have prominent lips, an elongated space between the upper lip and the nose (a long philtrum), a pointed nose (anteverted nares) with a full or bulbous tip, and a depressed nasal bridge. They may display down turning of the corners of the mouth and an open mouth posture. Frequently, these individuals have prominent ears that are low placed and somewhat pointed rather than rounded. Many WSc have a small head, a long neck, and sloping shoulders.

Despite their unusual characteristics, the facial features of WSc epitomize the prototype of an attractive juvenile. This undoubtedly contributes to their appeal.

Medical and Dental Conditions. Unfortunately, individuals with WS are subject to numerous health problems, many of which can be extremely serious, some life threatening. Even the typical conditions of most WSs require frequent medical, dental, and related types of checkups, tests, procedures, and treatment programs. Such problems and treatment can undermine the quality of life and impose burdens on the everyday functioning of WSs and their families.

Infancy is usually a traumatic period for child and family. From birth, WSc often have medical problems, including overt cardiac deficits (e.g., supravalvular aortic stenosis and heart murmurs). Such cardiac problems are frequent and often require surgery. WSc are also prone to incapacitating digestive and feeding difficulties (e.g., disordered sucking, swallowing, tongue thrusting, gagging, and gastrointestinal reflux), prolonged colic, eliminative disorders (e.g., constipation and rectal prolapse), and incessant crying. Metabolic problems (e.g., vitamin D sensitivity, impaired calcitonin secretion, and Infantile hypercalcaemia) are implicated in a general “failure to thrive.” Hernias, renal abnormalities, and other kidney problems are common from infancy into adulthood (Hagerman, 1999; Morris et al., 1988; Pankau, Partsch, Winter, Gosch, & Wessel, 1986).

Small stature and a slight build are characteristic of WSc (Pankau, Partsch, Gosch, Opperman, & Wessel, 1992). Progressive joint limitation is often evident, initially hypotonic with joint laxity; contractures may occur later. Other skeletal problems may include angulation of the big toe (hallux valgus), a bent fifth finger (clinodactyly), or depression of the chest (pectus excavation).

Many WSc have dental abnormalities, such as small, “bud”-shaped, widely spaced, pointed teeth (microdonite); a poor bite (malocclusion); endentation; and delayed dental eruption. Eye problems, such as strabismus and hyperopia, and ear infections are frequent in WSc. In adulthood, WSs have a high incidence of hypertension, gastrointestinal problems, and urinary tract problems.

In order to deal with the various health problems of WS, baseline evaluation, continual monitoring of conditions of risk, and application of effective treatment are recommended from infancy on (Hagerman, 1999; Morris et al., 1988). For example, the digestive and elimination problems common in infancy (i.e., hypercalcaemia, reflux, and oral motor coordination difficulties) may need to be addressed by physicians, pediatricians, and other professional specialists (Hagerman, 1999).

A group of physicians experienced in treating WSs have prepared guidelines as to the types of examinations, tests, and procedures that should be routinely administered to WSs (Morris et al., WSA Newsletter, March, 1999, Vol. 16(1), pp. 4–6). Among the laboratory and radiology tests that physicians recommend are (a) blood chemistry, urinanalysis, thyroid function, and FISH genetic tests for 7q11.23 deletion; (b) cardiology examination, including echocardiography, Doppler flow studies, and blood pressure measured in all four limbs; and (c) assessment of the genitourinary system, including ultrasound test of bladder and kidneys and urine analysis. In addition, many health professionals and researchers advise regular evaluation of the musculoskeletal, visual, auditory, dental, neurological, and behavioral status of WSs (e.g., Morris et al., 1999).

B. Developmental Problems

Developmental Delays. The majority of WSc are significantly delayed in attaining most developmental milestones, including speech and language, learning to walk and run, and learning to read and write. In language, WSs often make later strides that may result in a relative catchup by late childhood, adolescence, or early adulthood (WSa). In other areas, like visual-spatial-motor skills, marked deficits remain throughout life. Many WSs experience sleep disturbance, eating problems, and an extreme sensitivity to certain sounds. They are also prone to particular kinds of behavioral problems, such as distractibility, impulsivity, rigidity, and atypical activity. Some WSs exhibit specific forms of behavior disturbance: attention deficit disorder with hyperactivity (ADHD) or without hyperactivity (ADD), phobias, or depression.

Cognitive Limitations. In terms of overall cognitive ability, most WSs score within the moderately retarded or mildly retarded range on intelligence tests, although some are in the severely retarded or borderline normal range (i.e., often earning an IQ between 40 and 90 on the Wechsler Intelligence Scale for Children-Revised, WISC-R). This is consistent across decades and continents (e.g., Einfeld, Tonge, & Florio, 1997; Udwin, Yule, & Martin, 1987). In general, mildly retarded adults reach an adult mental age (MA) of from 8; 3 to 18; 9 years (yrs) and are considered educable; moderately retarded adults reach an adult MA of 5; 6 to 8; 3 years and are considered trainable.

The IQ scores of WSs, however, may not accurately reflect their true intellectual potential. IQ tests comprise a number of subtests that tap different types of abilities. WSs typically exhibit marked unevenness across the various subtests of most IQ tests, with striking peaks and valleys of abilities across cognitive domains. For example, individuals may achieve relatively high scores on verbal tests, and low scores on performance tests. These individuals may also have difficulties with distractibility, eye-hand coordination, following directions, or retrieving the correct answer, which may confound obtaining an objective measure of their cognitive ability. To minimize these kinds of bias, special care should be taken in the selection and administration of tests (Levine, 1993, 1994).

C. Paradoxical Behavioral Profile

Recent studies of WS and other syndromes have focused on the “behavioral phenotype,” that is, patterns of behavior that are reliably identified in a group of children with a known genetic disorder. The behavioral phenotype of WSs includes a unique cognitive profile and unusual socioemotional and personality attributes. As this constitutes a major focus of this book, only the highlights are mentioned in this introductory chapter.

Cognitive incongruities. In the cognitive domain, proficient and creative use of special aspects of language coexists with mental retardation. WSs are noted for their well-developed vocabulary, relatively complex and syntactically correct sentences, and their ability to spin a good tale. In contrast, their reasoning usually remains at a preoperational or preschool level (e.g., Bellugi, Wang, & Jernigan, 1994), and they typically have difficulty grasping cause-effect relations (Semel & Rosner, 1991a). Even within the language domain, there are problems, such as difficulty in maintaining a topic of conversation.

Visuospatial difficulties and deficits in visuomotor functioning abound. These interfere with activities of daily living, such as cutting food, getting dressed, walking down stairs, and writing and drawing. When the visual stimuli involve faces, however, WSc and WSa are often comparable to normals in visual perception, recognition, and discrimination of faces. Inconsistencies are evident in the area of audition, too. Although most WSs react with strong aversion to certain common sounds (e.g., a motor running), music is generally an area of intense enjoyment. Many WSs sing or play a musical instrument with some skill.

Socioemotionol Contrasts. In the area of socioemotional development, most WSs exhibit an intriguing profile. They tend to be extremely outgoing and friendly, even with strangers, to the point of being called hypersocial. Still, most become fearful and anxious when placed in an unfamiliar situation or when confronted with unanticipated change. Distractibility interferes with their performance on numerous tasks, everyday and school related, yet their attention can be intensely focused on topics of special interest for long periods of time.

Academic Inconsistencies. Academic performance is exemplified by several distinguishing contrasts: surprising ability to learn how to read; unanticipated skills in phonetically based oral spelling; poorly executed, painstaking, and sometimes illegible handwriting; an unexpected talent for storytelling; and extremely impaired number knowledge and usage. Although it may take years, many WSs eventually learn basic reading but may not know the number of pennies in a nickel. This puzzling mix of characteristics may lead teachers into expecting unrealistic levels of performance, which is frustrating to both teachers and WS students.

D. Neurobiological Factors

In the areas of neuroanatomy and neurophysiology, studies of brain organization in WSs often yield paradoxical results.

Neuroanatomical and Neurophysiological Research. Despite the fact that language functioning is usually represented in the left hemisphere of the brain and visuospatial functioning in the right, there are no indications of lesions or other gross abnormalities in the brains of WSs that may be related to their language/visuospatial profile (Bellugi, Wang, & Jernigan, 1994; Harris, 1995b). More detailed analyses of the structures of WSs’ brains reveal, however, specific differences from those of normally developing individuals and groups with other types of developmental disorder. Consistent with their behavioral phenotype, the frontal cortex of WSs is relatively larger than their posterior (visual) cortex, and their visual cortex indicates an abnormal clustering of cells. Other consistencies include relatively spared structures in the limbic system of the temporal lobes that may be associated with memory and emotionality; a relatively large cerebellum, especially in certain parts of the neocerebellum, which may have a language function; and enlarged sections of the temporal lobe and planum temporale, which may provide a basis for their musical ability (Lenhoff et al., 1997). In neurophysiological studies, WSs tend to exhibit hyperexcitability and less hemispheric specialization than most subjects when stimulated by certain auditory probes, such as sentences that are anomalous in meaning (Bellugi et al., 1994; Harris, 1995b).

Such research reveals some of the subtlety of the brain-behavior linkage in WSs and the oversimplicity of some of the earlier theories regarding the relation between localization of brain function, language, and cognition.

Genetic Research. In 1993, a dramatic discovery was announced: “WS is caused by a mutation, or change, in a single gene” (Morris, WSA National Newsletter, 1993, 10(1), p. 3). This ended years of speculation about the etiology of WS (K.L.Jones, 1990): whether it is due to lack of calcium and vitamin D, difficulty in metabolizing calcitonin (CT), or a calcitonin-gene-related product (CGRP), It also led to intensified study of the WS molecular genetic profile and the extraordinary conclusion that WS arises from a microdeletion of DNA in a single copy region of chromosome 7, 7q11.23 (Ewart, Morris, Ensing et al., 1993).

The primary, first deleted gene identified for the region is the elastin gene (ELN), which causes supravalvular aortic stenosis (SVAS) in individuals with WS as well as those with SVAS but without other WS features. This finding has led to a search for adjacent, WS-Iinked genes in the surrounding area of 7q11.23. Thus far, somewhere between 16 and 20 genes have been implicated. Some seem to be related, at least for awhile, to certain behavioral aspects of WS, such as LIMK1 with visuospatial deficits, or the length of the deletion with low IQ (Bellugi, Lichtenberger, Mills, Galaburda, & Korenberg, 1999; Korenberg, WSA National ...

Table of contents

• Cover
• Halftitle
• Title
• Copyright
• Dedication
• List of Figures and Tables
• Contents
• Foreword
• Preface
• Acknowledgments
• 1. Introduction
• 2. Language Skills and Problems
• 3. Intervention Approaches for Language Problems
• 4. Perceptual and Motor Performance
• 5 . Specific Aptitudes
• 6. Maladaptive Behaviors
• 7. Intervention Approaches for Maladaptive Behaviors
• 8. Summary and Conclusions
• References
• Appendix
• Author Index
• Subject Index