Other problems with the heart and blood vessels, including high blood pressure (hypertension) and stiff blood vessels, have also been reported in people with Williams syndrome. John AE, Mervis CB. 2007;13(1):3-15. doi: 2004. World Congress on Chromosome Abnormalities; San Antonio, TX. Zukowski A. Temple CM, Almazan M, Sherwood S. Lexical skills in Williams syndrome: a cognitive neuropsychological analysis. official website and that any information you provide is encrypted WS is associated with a characteristic facial appearance (see Figure 1), congenital heart disease, connective tissue abnormalities, and failure to thrive or growth deficiency (Morris, 2006). Levy and Antebi (2004) indicated that children with Williams syndrome and, more generally, children with intellectual disability, may benefit from an explicit phonics approach rather than a whole word approach to reading instruction. Sensory modulation problems, including difficulty with auditory filtering and hypersensitivity to sound, also are very common (John & Mervis, 2010). Philofsky et al. This review highlights the need for methodologically sound studies that utilize multiple comparison groups, developmental trajectories, and longitudinal analyses to examine the WS phenotype, as well as those that link brain structure and function to the cognitive and behavioral phenotype of WS individuals. International Review of Research in Mental Retardation. tend to have a very social and engaging personality, statistical vocabulary learning-word-object associations, delay in the appearance of first words and language acquisition, higher frequency of hesitations and repetitions in speech, because individuals with Williams syndrome have a strong working memory, provide, Introduction to Language and Communication, https://williams-syndrome.org/what-is-ws/general-information, https://williams-syndrome.org/featured-education-resources, https://medlineplus.gov/genetics/condition/williams-syndrome/, https://www.ncbi.nlm.nih.gov/books/NBK1249/. Results have consistently indicated that individuals with Williams syndrome perform significantly better than CA- and IQ-matched individuals with either Down syndrome (Edgin, 2003; Klein & Mervis, 1999; Vicari et al., 2004, Wang & Bellugi, 1994) or intellectual disability of unknown or mixed etiology (Devenny et al., 2004; Udwin & Yule, 1991). To achieve this goal, a partnership among highly effective teachers, classroom assistants and aides explicitly trained to facilitate childrens reading development, parents, and researchers is crucial. Thus, the SLPs role in treating this population and in elucidating the strengths and weaknesses of children with WS for other members of academic and intervention teams is critical. Udwin O, Yule W, Martin N. Cognitive and behavioral characteristics of children with idiopathic infantile hypercalcaemia. Atypical cognitive deficits in developmental disorders: Implications for brain function. Laing et al. Karmiloff-Smith A, Grant J, Berthoud I, Davies M, Howlin P, Udwin O. Kozel BA, Bayliss SJ, Berk DR, Waxler JL, Knutsen RH, Danback JR, Pober BR. Klein-Tasman BP, Mervis CB. Although children with Williams syndrome often have relatively good verbal short term memory, their working memory is typically much more limited. Parents view reading competence as critical not only for success at school but also for increasing the likelihood of successful employment during the adult years and providing a valued leisure time activity throughout the lifespan. The relation between phonological memory (as measured by nonword repetition) and vocabulary or grammatical development has also been considered. American Journal of Medical Genetics Part B. Lord C, Risi S, Lambrecht L, Cook EH, Jr, Leventhal BL, DiLavore PC, Pickles A, Rutter M. The Autism Diagnostic Observation Schedule-Generic: a standard measure of social and communication deficits associated with the spectrum of autism. Three of the studies described above (Devenny et al., 2004; Edgin, 2003; Wang & Bellugi, 1994) also assessed backward digit recall. Palacios-Verdu MG, Segura-Puimedon M, Borralleras C, Flores R, Del Campo M, This general population result has already been found to hold for children with Williams syndrome. Grant J, Karmiloff-Smith A, Gathercole SA, Paterson S, Howlin P, Davies M, Udwin O. Phonological short-term memory and its relationship to language in Williams syndrome. Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. Levy, Smith, and Tager-Flusberg (2003) considered the abilities of a group of 20 English-speaking individuals with Williams syndrome (mean CA = 16.42 years; range: 12.67 20.33), and Levy and Antebi (2004) considered the abilities of a group of 17 Hebrew-speaking individuals with Williams syndrome (mean CA = 16.17 years; range: 11 22). Mervis and Becerra (2007) describe several alternative strategies that the communicative partners of children with WS use to establish joint focus on an object. For these children, use of mnemonic devices such as incorporating an object that starts with the letter sound into the depiction of the letter presented to the child may be helpful. syndrome. Fraser and Conti-Ramsden (2008) found that children in the general population who were having educational difficulty (primarily language and/or literacy problems) performed considerably worse on the CELF-III Formulated Sentences subtest than did children who were not having educational difficulty. syndrome. Consideration of these patterns in the context of what is known about the reading development of children in the general population provides a strong foundation for facilitating the reading development of children with Williams syndrome. Pediatrics. The childrens WIAT-II standard scores indicated a wide range of reading ability relative to CA peers in the general population, with standard deviations > 15 for all measures. The few studies of these topics involving individuals with Williams syndrome are described below. This study characterizes the developmental and adaptive behavior features of 16 . Performance on all the phonological awareness measures, on nonword reading, and on speeded naming was significantly correlated with single-word reading ability for both groups. Federal government websites often end in .gov or .mil. Although WS results from the hemideletion of around two dozen genes in chromosome 7, no gene has yet been probed to account for, or contribute significantly to, the language problems exhibited by the affected people. (2003) stated that phonics instruction should be helpful for children with Williams syndrome, given the strong relations between their phonological awareness abilities and their reading abilities. Most children start to acquire a rich vocabulary and pick up more words after mastering crawling or walking. In the initial studies of the reading abilities of individuals with Williams syndrome, researchers examined performance on standardized measures of reading and IQ. Narrowing of other vessels, including thearteryfrom the heart to thelungs(pulmonarystenosis) and the arteries that supply blood to the heart (coronary artery stenosis) can also occur. Phonemic awareness instruction is most effective if it is provided in kindergarten or first grade. the contents by NLM or the National Institutes of Health. John AE, Rowe ML, Mervis CB. Designing measures for profiling and genotype/phenotype studies of individuals with genetic syndromes or developmental language disorders. Morris CA, Braddock SR; COUNCIL ON GENETICS. MedlinePlus also links to health information from non-government Web sites. A form of cardiovascular disease called supravalvular aortic stenosis (SVAS) occurs frequently in people with Williams syndrome. There have not been any studies of text comprehension monitoring by individuals with Williams syndrome, and there has only been one study of comprehension monitoring in the oral modality involving individuals with this syndrome. To use the sharing features on this page, please enable JavaScript. Annual Meeting of the Canadian Language and Literacy Research Network Centre of Excellence; Toronto, Ontario. Laing et al. Mean MA was 7.0 years for the Williams syndrome group and 7.7 years for the typically developing group. Two metalinguistic abilities that are closely related to reading are phonological awareness and comprehension monitoring. Peregrine E, Rowe ML, Mervis CB. Williams syndrome is caused by the loss (deletion) of genetic material from a specific region of chromosome 7. Volterra et al. Department of Psychological and Brain Sciences, University of Louisville; intellectual disability, language development, literacy, neurodevelopmental disorders, phonics, reading comprehension, Williams syndrome. Garayzabal Heinze and Cuetos Vega (2008) found that the Williams syndrome group performed at the same level as the control group for syllable deletion and for nonword repetition. Full Text PDF Tools Share Williams syndrome (WS) is a rare genetic disorder characterized by heart disease, failure to thrive, hearing loss, intellectual or learning disability, speech and language delay, gregariousness, and nonsocial anxiety. Peregrine, Rowe, and Mervis (2004) considered parental ratings of 30 children with Williams syndrome aged 6 12 years and 35 typically developing siblings in the same age range on the CCC-2. In fact, for children with IQs < 100, predicted reading standard scores are well above IQ. First, the majority of individuals with Williams syndrome have intellectual abilities in the borderline to mild disability range; severe intellectual disability, rather than being the norm, is quite rare (e.g., Bellugi, Lichtenberger, Jones, Lai, & St. George, 2000; Mervis & John, in press; Mervis & Morris, 2007; Meyer-Lindenberg, Mervis, & Berman, 2006; Searcy, Lincoln, Rose, Klima, & Bavar, 2004). For a group of 22 children with WS, age at acquisition of a 10-word expressive vocabulary was highly correlated with age at acquisition of 50- and 100-word vocabularies and the onset of novel word combinations, and all of these language measures were strongly related to both Verbal IQ and Nonverbal IQ at age 4 years (Mervis & John, 2012). The Stanford-Binet Intelligence Scale: Third revision form L-M. Udwin O, Davies M, Howlin P. A longitudinal study of cognitive abilities and educational attainment in Williams syndrome. Karmiloff-Smith A, Grant J, Berthoud I, Davies M, Howlin P, Udwin O. Both of these are areas for which effective formal assessments, especially for older children, are not available, leading to a lack of formal documentation. Dissertation Abstracts International: Section B: The Sciences & Engineering. Some of the strategies suggested above may also be helpful in teaching relational terms to older children. Health Care Supervision for Prevalence of psychiatric disorders in 4 16-year-olds with Williams syndrome. Department of Psychological and Brain Sciences, 317 Life Sciences Building, University of Louisville, Louisville, KY 40292, 502-852-3604; Department of Psychological and Brain Sciences, 317 Life Sciences Building, University of Louisville, Louisville, KY 40292, 502-852-3604. Mean DAS-II GCA was 63.14 (SD = 11.58, range: 39 98). Levy Y, Hermon S. Morphological abilities of Hebrew-speaking adolescents. However, the control group performed significantly better than the Williams syndrome group on rhyming. Epub 2020 Jan 21. An official website of the United States government. Losh et al. Indication that there was a problem was most likely if the requested picture was not among the available choices and the word used by the researcher to identify the referent was in the childs vocabulary, next most likely if the researcher used a word the child did not understand, and least likely if the request was ambiguous. CA information was not reported for the Williams syndrome group. When asked to complete a challenging task, the majority of children with WS will try to distract the adult or engage with him/her socially rather than attempting to complete the task (Mervis & John, 2010a). Williams-Beuren syndrome: Research, evaluation, and treatment. 10.1007/s00018-005-5553-x. Hemizygosity at the NCF1 gene in patients with Williams-Beuren syndrome Thus, careful assessment (including extensive observation of the child interacting with his/her caregivers and other children) is necessary to determine the childs language intervention needs. More recently, the WSPP has been shown to characterize >90% of an additional sample of 100 individuals with WS aged 5 20 years (Mervis & John, 2010b). 15;145C(3):280-90. doi: 10.1002/ajmg.c.30139. Martens MA, Wilson SJ, Reutens DC. Prior research has indicated that pragmatics is an area of particular weakness for individuals with Williams syndrome (WS). It is also important that children understand that the purpose of using comprehension strategies is to comprehend the text, not to show that they can apply the strategy. In: Alloway TP, Gathercole SE, editors. In the first, I summarize the findings for children with Williams syndrome on the broad language abilities that have been reported to be important for the development of reading by children in the general population. Combining working memory training and comprehension strategy training should facilitate the development of reading comprehension. Childrens comprehension problems in oral and written language: A cognitive perspective. The https:// ensures that you are connecting to the Phonological memory refers to immediate memory for the sounds of language, usually measured by verbatim recall of nonsense words or syllables that follow the phonotactics rules of the language in which the child is being assessed. Neural correlates of genetically abnormal social cognition in Williams Epub 2016 Aug 26. (2006) found that many 6 11-year-olds did not reliably mark the third-person singular present and/or the past tense. 2011. No suggestions for specific methods were mentioned. The relation between primary reading instruction method and reading ability of children with Williams syndrome has been addressed in an ongoing study conducted in my lab (Becerra et al., 2008). Studies comparing the grammatical abilities of children and adolescents with Williams syndrome to either those of CA- and IQ-matched individuals with forms of intellectual disability other than Down syndrome or to typically developing children matched for mental age (MA) have consistently indicated that the syntactic abilities of the Williams syndrome group are at or slightly lower than that of the comparison group. However, Robinson et al. Piattelli-Palmarini M. Speaking of learning: how do we acquire our marvellous facility for expressing ourselves in words? Epub 2005 Jul Attention Deficit Hyperactivity Disorder (ADHD) is also common. Although language is typically considered a relative strength for children with WS, there is still a clear pattern of relative strengths and weaknesses within that domain. inherit the chromosomal deletion from a parent with the condition, Genetic Testing Registry: Williams syndrome, National Organization for Rare Disorders (NORD). In a 2007 study of 88 individuals with WS ages 4-46, the majority (82%) scored in the normal range (70) and 6% scored Language and Literacy In: Shapiro BK, Accardo PJ, editors. 1 October 2004 Chapter All in good time: a window of opportunity for first language acquisition Julia Herschensohn Language Development and Age Published online: 22 September 2009 Article Expressive language style among adolescents and adults with Williams syndrome Udwin O, Yule W. A cognitive and behavioural phenotype in Williams syndrome. Menghini et al. 2021 Jun 17;7(1):42. doi: Vocabulary abilities of children with Williams syndrome: Strengths, weaknesses, and relation to visuospatial construction ability. Keywords: Williams syndrome, cognitive development, language development, behavior, intervention INTRODUCTION Williams syndrome (WS) is a complex neurodevelopmental disorder caused by a deletion of ~25 genes on one copy of chromosome 7q11.23 [ Hillier et al., 2003 ; Osborne, 2006 ] with an estimated prevalence rate of 1 in 7500 live births . Endocrine abnormalities: hypothyroidism, early puberty and diabetes in adulthood. How can gene variants affect health and development? The initial claims that individuals with WS evidenced near-normal grammatical abilities and that these abilities were well above what would be expected given their significant intellectual disabilities (Bellugi, Marks, Bihrle, & Sabo, 1988) were based on comparisons with age- and IQ-matched adolescents with DS. Udwin, Davies, and Howlin (1996) retested 23 of the 44 participants in the Udwin et al. (2008) study indicated that children who comprehended well read fluently. 2010 May 15;154C(2):220-8. doi: von Arnim G, Engel P. Mental retardation related to hypercalcaemia. However, motor control and planning were also affected, with 50% and 82% receiving scores reflecting at least mild deficits on Focal Oral Motor Control and Sequencing, respectively. (2006) found that 65% of the 119 children in their study met DSM-IV criteria for ADHD. In this section we begin with a brief consideration of the infant/toddler period and then discuss the preschool/school-age period. did not control for CA.) Second, the results reported by Becerra et al. Once again, the standard deviation is 15, indicating as much or more variability as for the general population. If this condition is not treated, the aortic narrowing can lead to shortness of breath, chest pain, and heart failure. HHS Vulnerability Disclosure, Help the contents by NLM or the National Institutes of Health. Two studies of the single-word reading abilities of individuals with Williams syndrome have been conducted that did not include control groups. 1999 Apr 9 [updated 2023 Apr 13]. neurobiology of Williams syndrome: cascading influences of visual system Mervis CB, Morris CA. The morphological abilities of children with WS are at or slightly below the level expected for their overall intellectual abilities (see review in Mervis & Becerra, 2007). International Professional Meeting of the Williams Syndrome Association; Richmond, VA. 2006. Mervis CB, Morris CA, Klein-Tasman BP, Bertrand J, Kwitny S, Appelbaum LG, Rice CE. For example, the quality of the childrens social overtures was generally good and few children had difficulty sharing affect or directing facial expressions or vocalizations to other people. For this group, mean Basic Reading age equivalent was 8.65 years (SD = 0.2 years; range: 6.0 18.0 years) and Mean Reading Comprehension age equivalent was 7.16 years (SD = 2.13 years; range: 6.0 11.0 years). FOIA The majority (82%) scored in the normal range ( 70), and 6% scored at or above the general population mean ( 100). Mean WAIS-R (Wechsler, 1981) full-scale IQ was 60.85 (SD = 5.94). The effect of oral vocabulary on reading visually novel words: a comparison of the dual-route-cascaded and triangle frameworks. Bellugi U, Marks S, Bihrle A, Sabo H. Dissociation between language and cognitive functions in Williams syndrome. The meta-analysis results indicated that systematic phonics instruction (teaching of all major letter-sound correspondences, including consonants, vowels, and digraphs, in a clearly-defined sequence) was more effective than either whole word (having children memorize whole words; sometimes referred to as the look-say or sight-word approach) or whole language (focusing on meaning, with letter-sound correspondences taught incidentally and in context, only as needed) approaches. Age at acquisition of a 10-word expressive vocabulary was below the 5th percentile for all 13 children; age at acquisition of 50- and 100-word expressive vocabularies was below the 5th percentile for 12 of 13. Frequently, once the childs speech is understandable and he/she no longer makes consistent grammatical errors, speech/language therapy is discontinued, even though the child continues to have considerable difficulty with both conceptual/relational language and pragmatics. Clinical Evaluation of Language Fundamentals. Nat Rev Dis Primers. Klein BP, Mervis CB. (2004) also found that the control group performed significantly better than the Williams syndrome group on all measures of phonological awareness included in their study, with significant differences for syllable deletion and rhyme detection and a nonsignificant difference for syllable segmentation. The performance of 9 11-year-olds with Williams syndrome on the Clinical Evaluation of Language Fundamentals-IV (CELF-IV; Semel, Wiig, & Secord, 2003) Formulated Sentences subtest, which includes a number of more advanced relational concepts, was even weaker, with 12 of 29 children earning a scaled score of 1, the lowest possible (Mervis & John, 2008). In: Cain K, Oakhill J, editors. Menghini et al. Careers, Unable to load your collection due to an error. (2003) found that performance on nonword repetition was not significantly related to receptive vocabulary (PPVT-R) for either the Williams syndrome group or the typically developing contrast group, after CA was partialled out. The Williams Syndrome Cognitive Profile. Meyer-Lindenberg A, Hariri AR, Munoz KE, Mervis CB, Mattay VS, Morris CA, More complex grammatical constructions such as passives, relative/embedded clauses, or anaphoric reference also may need to be taught directly and then tested for generalization. Informal observations of the participants in the Becerra et al. The correlation between CA and Phonological Processing T score was 0.01, indicating that within this age range, the phonological awareness abilities of children with Williams syndrome relative to their CA-peers do not vary as a function of CA. Symptoms of Williams syndrome include: Chronic ear infections and/or hearing loss. Williams syndrome is a rare genetic disorder in which, it is claimed, language abilities are relatively strong despite mild to moderate mental retardation. The two groups differed significantly on all 10 scales (p < .001). Udwin and Yule (1990) reported that 37% of the children with WS in their study met criteria for hyperverbal speech (excessive use of stereotyped phrases, over-familiarity, introduction of irrelevant experiences, perseverative responding). The authors argued that these findings provide further evidence that for individuals with Williams syndrome, the process of learning to read depends disproportionately on phonological skills with only a very limited effect of semantics. Socio-communicative deficits in young children with Williams syndrome: Performance on the Autism Diagnostic Observation Schedule. . The child scoring at the 9th grade level was in fact in 9th grade, so decoded and comprehended at grade level. modified by antihypertensive use and copy number changes in NCF1. Masataka (2001) argued that the late onset of language is due in part to motor delays, specifically a delay in onset of rhythmic hand banging, which provides the motor substrate for canonical babble. Wechsler Intelligence Scale for Children-Revised. Individuals with Williams syndrome found the same types of grammatical constructions difficult to comprehend whether they were learning English, Hungarian, or Italian. Of these characteristics, three (gregarious, people-oriented, visible) fit with the first part of von Arnim and Engels statement, and two (tense, sensitive) with the second. (Mayer, 1969) and the inferences included in these narratives. The WISC-R full-scale IQs of 10 children were <40. Sci. Levy Y, Smith J, Tager-Flusberg H. Word reading and reading-related skills in adolescents with Williams syndrome.

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