RUNNING HEAD: Socio-Communication Deficits Of Children With Williams. Socio-Communication Deficits of children with Williams Syndrome: Overlap with
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1 RUNNING HEAD: Socio-Communication Deficits Of Children With Williams Syndrome: Overlap With The Autism Spectrum? Socio-Communication Deficits of children with Williams Syndrome: Overlap with the Autism Spectrum? Dr. Bonita P. Klein-Tasman and Shawn Thompson University of Wisconsin Milwaukee
2 Introduction Williams syndrome is a developmental disorder. Individuals with Williams syndrome are frequently characterized as sociable. Researchers have explored the quality of the relationships of people diagnosed with Williams syndrome and have found that the bonds they establish are usually of inferior quality. Research has also indicated an overlap between the behavioral phenotype of individuals with Williams syndrome and autism spectrum disorder. Further characterization of the behavior of people with Williams syndrome is needed to provide us with better descriptions of the strengths and weaknesses of individuals with the disorder. It is because the overlap in the behavioral phenotype of autism spectrum disorder and Williams syndrome that it can be proposed that people diagnosed with Williams syndrome could benefit from the intervention methods that are utilized in the treatment of autism spectrum disorder. Researchers in this study conducted an exploratory analysis to examine the overlap in behavioral phenotype of autism spectrum disorder and Williams syndrome, particularly the socio-communicative abilities of persons diagnosed with each disorder. Past research has shown that autism and Williams syndrome occur sporadically in populations. Research has also shown that intervention methods are most beneficial when utilized closer to age of onset. The epidemiology of the neurodevelopmental disorders included in this study are discussed briefly as well as several known methods of treatment. Subsequent to an overview of the disorders is a contrast of the sociocommunicative capacities of individuals diagnosed with the disorders of interest. Williams Syndrome Williams syndrome is a developmental disorder that has an incidence rate of 1 out of every 20,000 persons. Williams syndrome can be best understood as having a specific genetic profile, a differentiated cognitive profile and a unique personality profile. Genetically Williams syndrome is a submicroscopic deletion of at a 1.5 megabase on the long arm of chromosome 7. The Elastin gene has been mapped onto the deleted section of chromosome 7, which is a deletion common to classical Williams syndrome (Ewart et al., 1993). Elastin is a protein found in the connective tissue, thus explaining connective tissue abnormalities found in the phenotype of individuals with the disorder. Other phenotypic features of William syndrome include respiratory, cardiovascular, gastrointestinal, renal, muscoskeletal and metabolism complications. The cognitive profile associated with Williams syndrome highlights performance in three key areas of cognition, particularly language, auditory rote memory and visual-spatial construction (Mervis, Robinson, Bertrand, Morris, Klein-Tasman, Armstrong, 2000). Researchers have found that in relation to comparison groups language has been identified as a definite strength for individuals with the disorder (Mervis et al., 2000). Auditory rote memory involves an individual s ability to recall several words or digits of information after hearing them briefly. Much like
3 language, researchers have found has found that in relation to comparison groups auditory rote memory was found to be a definite strength for individuals diagnosed with Williams syndrome (Mervis et al., 2000). Visual-spatial construction entails an individual s ability to reconstruct configurations or pictures (to draw) as they perceived them. Prior research indicates that when compared to other children with mixed disorders matched on chronological age and mean age children with Williams syndrome performed significantly lower on a drawing task in which the children were asked to reproduce a design to the best of their ability (Klein & Mervis, 1999). Performance in language task, auditory rote memory and visual-spatial construction are relatively similar for individuals diagnosed with the disorder, however variation does exist (Morris & Mervis, 1999). Overall intelligence scores of individuals diagnosed with Williams syndrome typically indicate mild to moderate impairment in cognitive function with up to 25% of people with Williams syndrome with low average or average intellectual problems. Mervis, Robinson, Bertrand, Morris, Klein-Tasman and Armstrong, (2000) have identified a common cognitive profile associated with Williams syndrome. Researchers have found that the cognitive profile associated with Williams syndrome can be distinguished from other populations of individuals who may have developmental disorders but who fail to have Williams syndrome proper (Mervis et al., 2000). Researchers in this study operationalized the cognitive profile of Williams syndrome by examining performance on the Differential Abilities scales and were able to accurately identify persons who have the disorder.92 of the time (Mervis et al. 2000). It was also found that within the context of the Differential Abilities Scales measure Williams syndrome is identified by the following criteria: performance on digit recall items should be greater than the first percentile, performance on pattern construction should short of the 20 th percentile, the pattern construction score should be lower than the average t-score fore the core subtest and the pattern construction t-score should also be lower than performance on the digit recall items (Mervis et al. 2000). Research indicated that common to Williams syndrome are specific cognitive strengths and weaknesses. Relative to overall intelligence scores language and auditory rote memory appear to be strengths (Mervis et al., 2000). A significant impairment is recognized in the Visual Spatial constructive capacities of those diagnosed with Williams Syndrome (Mervis et al., 2000). Autism Spectrum Disorder Autism is a pervasive developmental disorder that has an incidence rate of about 1 out of a 1000 births (Tanguay, 2000). A specific genetic etiology has not yet been assigned to Autism; however researchers do believe that Autism is the product of many genes acting together (Tanguay, 2000). The expressions of the characteristics of Autism are largely determined by three factors which include IQ, language development, and age (Wolfe& Mash, 2002). Autistic individuals are characterized as having marked impairments in social interaction, language and communication. In addition to Autistic individuals impairments in their ability
4 to relate socially and emotionally with others they also typically have a limited set of interest. These limited behaviors can be preoccupations with or indulgence in highly repetitive behaviors. Autistic individuals social interactive capacities are abnormal in that they inadequately utilize and fail to comprehend nonverbal communication. Nonverbal communication in social interaction encompasses postural adjustments, facial expression, and gaze orientation. Non-verbal communication provides the context that is associated with language and communication (Wolfe & Mash, 2002). About half of all Autistic persons fail to develop useful language (Wolfe & Mash, 2002). Those Autistic persons who develop language usually do so before five years of age. Autistic person s linguistic impairments are best exhibited by poverty of speech, echolalia, and idiosyncratic vocalizations. As evidenced by echolalia and idiosyncratic vocalizations Autistic individuals who vocalize often use language in an inappropriate manner. Autistic individuals communication is also abnormal because they fail to initiate or maintain conversation. Proper maintenance of a conversation involves spontaneous ideas and vocal intonations all which all happen to be regulated by the context (Wolfe & Mash 2002). In addition to the deficits that autistic individuals may have, are behavioral irregularities. Behavioral symptoms characteristic of Autistic children include hyperactivity, short attention span, impulsive behavior, aggressiveness and selfinjurious behaviors (DSM IV, 2000). Autism in Williams Syndrome Research has shown that William syndrome and Autism would co-occur at about 3.5 per 100 million births (Gillberg & Rasmussen, 1994). Contrary to the unusually rare statistic of the concurrence rate of Williams syndrome and Autism past research suggest there are several similarities in the behavioral phenotype of Williams syndrome and autism spectrum disorder (Gillberg & Rasmussen, 1994). Both of the disorders impact the social interaction, linguistic and communication abilities of those diagnosed. Lincoln, Lai, Jones, (2002) assert that distinct etiological mechanisms underling rapid attention shifting and joint attention capacities in individuals who have developmental disorders. Researchers juxtaposed the performance of populations of individuals whose cerebellum structures had been compromised prior to the study, which included cerebellar lesion, Autism and Williams syndrome. Investigators highlighted the cerebellar function of participants with Williams syndrome who all happen to have variations in the cerebral vermal regions of their brains by examining their participant s performance on three task auditory task, a visual task and an task that require they properly negotiate properly between both auditory and visual stimuli. Results of this study indicated that when auditory and visual functions when examined separately are secure (Lincoln, Lai, Jones, 2002). The attention shifting task indicated that participants had difficulty in the execution of this task. Researchers seen that in the populations of subjects with developmental disorders they assessed on the
5 attention shifting task included in the study that time acted as a moderator with greater time producing greater scores. Researchers employed a structured interview to test if Williams syndrome participants evidenced joint attention deficits and none were found. It has been asserted that because the participants with Williams syndrome were able to establish joint attention behaviors despite not being able to engage in rapid attention shifting that lead researchers to assert that joint attention and Attention shifting are dissociated. Results of this study also lead researchers to believe that cerebral vermis size did not lend to improved attention shifting capabilities. The former study relates to the present because the former study lends to the idea that the expression of the phenotype of Autistic populations and Williams syndrome populations seems to converge on performance measures. Furthermore, if there is convergence amongst the phenotype of the developmental disorders highlighted in this study then perhaps certain aspects of the treatment methodologies offered to Autistic populations may prove beneficial to those diagnosed with Williams syndrome. Prior research has indicated that children with Williams syndrome have been shown to be high in sociability, friendliness, excitability and distractibility. The DSM-IV diagnosis of Autism is made only after at least two marked impairments in social interaction as well as impairment in communication and a preoccupation with repetitive behaviors are witnessed. Individuals diagnosed with Williams syndrome were found to be considerably more empathetic towards others suggesting a more keen assessment of gestures in social interaction than Autistic persons. Past researchers infer that individuals with Autism fail to adopt social knowledge, which would then deaden their assessment of nonverbal communication in social interaction. Even in their juxtaposing behavioral characteristics Williams syndrome and Autism still appear very connected because social interaction in both disorders is considered abnormal. Researchers in this study attempt to examine the behaviors of several participants, all of whom have developmental delays. More specifically researchers assessed how participants behaviors were coded with respect to module 3 of the Autism Diagnostic Observation Schedule. It is hypothesized that because only a slight overlap exist between the character type of Autism and William syndrome that individuals with these disorders should be differentiated from one another. Methods Participants The sample of this investigation included a total of ten participants (6male, 4 female). All participants were classified with Williams syndrome evidencing classic deletions. Two participants were from minority groups (African American, Biracial) with the remaining 8 participants Caucasian. Participants ranged in age from 5 years of age to 7 years 5 months (M= 5.69, SD=2.4). Participants were recruited through flyers distributed at the Williams syndrome national and regional conferences. Procedure
6 Participants were administered the Autism Diagnostic Observation Schedule Module 3 in one of three locations. Participants fulfilled the test measure at either the Child Neurodevelopment Research Lab in the psychology department at the University of Wisconsin Milwaukee, The Neurodevelopmental Sciences Lab at the University of Louisville or the National Williams Syndrome and Regional Conferences. Module 3 of the Autism Diagnostic Observation Schedule took subjects on average minutes to complete. All ADOS activities and assessments were videotaped. The test measure utilized in this study was administered and completed on the same day. Materials The ADOS is a standardized assessment designed to evaluate those behaviors that recur in Autism Spectrum Disorder. The ADOS manual focus s attention to impairments in social interactive, communicative and imaginative capacities of individuals who may have Autism related disorders. Specific algorithms are assigned to the behaviors which help to facilitate the decoding of the child s behavior. The quality of the child s abilities is extracted from the codes which then help to explain the magnitude of the Autistic behavior expressed by the child. The ADOS is a composite and revision of two past measures the 1989 ADOS (Lord et al., 1989) and the PL-ADOS (DiLavore, Lord & Rutter, 1995). The ADOS manual has four modules each varying in activity and purpose. Modules one and two target individuals who have not yet acquired phrase speech (non echoed three- word utterances that sometimes involve a verb and that are the individuals spontaneous, meaningful word combinations) Lord, Rutter, DiLaore, Risi (2000). Remaining modules 3 and 4 target children who are verbally fluent (Producing a range of flexible sentence types, providing language beyond the immediate context, and describing logical connections within a sentence) Lord, Rutter, DiLaore, Risi (2000). When the verbal ability of the child is dubious always select a module that the child is capable of negotiating his or her way through. Researcher should record behaviors of the child when they occur or directly after module has concluded. There are six codes that remain constant for the duration of the entire schedule. A code of 0 means behavior is devoid of impairment. A code of 1 means behavior is mildly uncommon for the task of interest. A code of 2 illustrates behavior is abnormal. A code of 3 shows observed behavior is substantially abnormal and often causing interference in the overall interview itself. A code of 7 means the behavior is so abnormally rare that it indicates other abnormal functioning, code of 8 indicates that the behavior of interest failed to transpire Lord, Rutter, DiLaore, Risi (2000). Module 3 of the ADOS encompasses 14 activities which may vary in the order they are executed and in ratings that are assigned. The activities provide both structured and unstructured framework for assessing participants social communicative and linguistic capacities. The activities included in module three are as follows Construction Task, Make Believe Play, Joint Interactive Play, Demonstration on Task, Description of a Picture, Telling a Story From a Book, Cartoons, Conversation and Reporting, Emotions, Social Difficulties and
7 Annoyance, Break, Friends and Marriage, Loneliness, Creating a Story. Each task is accompanied by a press which is a specific context that helps facilitate the expression of the desired behavior. The behaviors that are expressed by participants during activities are then assigned codes, which may vary by activity. Assigned to certain behaviors are codes which come to make up the algorithm. Administers of the ADOS decode rating assignments by algorithm. The algorithm decodes ratings by domain and utilizes the domain scores in providing an overall ADOS classification of the behavior of the participant. Module three examines three domains communication, social interaction and idiosyncratic and repetitive behaviors; however, only social interactive and communicative domains have ratings that lend to the overall ADOS classification Lord, Rutter, DiLaore, Risi (2000). Results On Module 3 of the ADOS results indicated that of the ten participants one in ten was classified as Autism, one in ten have Autism Spectrum Disorders and eight of ten were classified as nonspectrum. The domain that inspects communicative behavior indicated that of the ten participants included in this study four in ten evidence scores that exceed the cutoff for Autism, two in ten evidenced scores that exceeded the cutoff for Autism Spectrum Disorders, and four in ten exhibit scores that indicated nonspectrum classification. The domain that scrutinizes social interactive capacities indicated that of the ten participants one in ten expressed deficiencies that were common to Autism Spectrum Disorders; however, in 9 of 10 remaining cases no deficiencies were found in social interactive capacities, as measured by the ADOS. Discussion The current investigation initially sought to explore the overlap of autism spectrum disorders in Williams syndrome populations by highlighting the sociocommunicative capacities of children with Williams syndrome. The results conclude that there is a slight overlap in the behavioral profiles of autism spectrum disorder and Williams syndrome. This overlap was evidenced by communication deficiencies which were found in Williams syndrome that overlap with those seen by children with autism spectrum disorders. No overlap was found within the disorders for reciprocal social interaction. While children with autism spectrum disorders commonly exhibit reciprocal social interactive deficiencies participants with Williams syndrome involved in this study failed to express a lack of social interactive capacities as measured by the ADOS. The ADOS measures marked impairments in social interaction; however, it can be inferred from the results of this study that the ADOS lacked the sensitivity necessary to indicate the slight social interactive oddities noted in William syndrome personality profile (Tanguay, 2000). Communication deficits alone don t necessarily mean the kind of deficits in reciprocal social interaction seen in autism spectrum disorders. Furthermore, the expression of the communicative deficits in Williams syndrome populations may vary, explaining why social interactive abilities seemed preserved and why
8 communication abilities appear deficient in the ADOS classification of the participants included in this study. A limitation of the current investigation is the limited number of participants included in the sample. The generalizability of the findings is also inhibited by a racially homogeneous sample. Further research conducted on children with Williams syndrome should focus explicitly on those particular task where socio-communicative deficits appear most pronounced. The investigation of interest can also be enhanced by including a racially diverse sample population and increasing the number of participants included in the study.
9 References Gillberg, C., & Rasmussen, P. (1994). Brief Report: Four Case Histories and Literature Review of Williams Syndrome and Autistic Behavior. Journal of Autism and Developmental Disorders, 24, Klein-Tasman, B. P., & Mervis, C. B. (2003). Distinctive Personality Characteristics of 8-, 9-, and 10-Year-Olds With Williams Syndrome. Developmental Neuropsychology, 23, Lord, C., Rutter, M., DiLavore, P. C., & Risi, S. (2000). Autism Diagnostic Observation Schedule. Los Angeles, CA: Western Psychological Services. Mervis C. B., & Klein-Tasman B. P. (2000).William Syndrome: Cognition Personality, And Adaptive Behavior. Mental Retardation and Developmental Disabilities Research Reviews, 6, Mervis, C. Morris, C. Klein-Tasman, B. Bertrand, J. Kwity, S. Applebaum L. Rice, C. (2003). Attentional Characteristics of infants and Toddlers with Williams Syndrome during Triadic Interactions. Developmental Neuropsychology, 23, Mervis, C., Robinson, B., Bertrand, J., Morris, C., Klein-Tasman B., Armstrong, S., (2000). The Williams Syndrome Cognitive Profile. Brain and Cognition, 44, Morris, C. & Mervis, C. (1999). Williams syndrome. In Goldstein, S. & Reynolds, C.R. (Eds.) Handbook of neurodevelopmental and genetic disorders in children. New York, NY: Guilford Press. Reiss, A. L., Feinstein, C., Rosenbaum, K, N., Borengasser-Caruso, M., Goldsmith B. M. (1985). Autism associated with Williams syndrome, The Journal of Pediatrics 106, Tager-Flusberg, H. & Sullivan, K. (2000). A component view of theory of mind: evidence from Williams syndrome. Cognition, 76, Tanguay, P. (2000). Pervasive developmental disorders A10-Year Review. J. AM. Acad. Child Adolescent Psychiatry, 39:9 September Wolfe, D. & Mash, E. (2002). Autism and Childhood Onset Schizophrenia. Abnormal Child Pschology 2 nd edition, Belmont, California: Wadsworth group Thomson Learning Inc.
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