Williams Syndrome Medline Alert - June 2001

From the Medical Literature - June 2001


Record  1

Supporting communication in young children with developmental disabilities. Kaiser AP; Hester PP; McDuffie AS Department of Special Education, Vanderbilt University, Nashville, Tennessee. Mental retardation and developmental disabilities research reviews ( United States) 2001, 7 (2) p143-50, ISSN 1080-4013 Languages: ENGLISH Document type: Journal Article Record type: In Process

The behavior of parents, adult caregivers, and peers comprises the critical features of community support for the development of communication in young children with developmental disabilities. In a bio-ecological model of development, communication development is the result of the interactions of individuals with specific characteristics, in particular contexts over time. From the perspective of this model, foundational findings of intervention research to current views of communication development in children with developmental disabilities are summarized. The contributions of individual child characteristics to child-caregiver interactions that support language development are illustrated based on research with children who have autism, Williams syndrome, Down syndrome, and children who use augmentative communication systems. Parent-child interaction and the quality and quantity of parent talk are discussed as factors in children's language development. The effects of young children's delayed language on their interactions with peers, the contributions of peers to children's language learning and use, and the critical features of classroom settings that support child language development are reviewed. MRDD Research Reviews 7:143-150, 2001. Copyright 2001 Wiley-Liss, Inc.


Record 2

American Academy of Pediatrics: Health care supervision for children with Williams syndrome. Pediatrics (United States) May 2001, 107 (5) p1192-204, ISSN 1098-4275 Journal Code: OXV Languages: ENGLISH Document type: Journal Article Record type: In Process

This set of guidelines is designed to assist the pediatrician to care for children with Williams syndrome diagnosed by clinical features and with regional chromosomal microdeletion confirmed by fluorescence in situ hybridization.


Record 3

Balloon dilation angioplasty of peripheral pulmonary stenosis associated with williams syndrome. Geggel RL; Gauvreau K; Lock JE Department of Cardiology, Children's Hospital, and the Department of Pediatrics, Harvard Medical School, Boston, Mass. Circulation (United States) May 1 2001, 103 (17) p2165-70, ISSN 1524-4539 Languages: ENGLISH Document type: Journal Article Record type: In Process

Background-Experience of balloon dilation of peripheral pulmonary stenosis (PPS) in Williams syndrome (WS) is limited. Methods and Results-Catheterizations in all patients with WS undergoing therapy for PPS from 1984 to 1999 were reviewed. Criteria for successful dilation included an increase >50% in predilation diameter and a decrease >20% in ratio of right ventricular (RV) to aortic (Ao) systolic pressure. Median age and weight were 1.5 years and 9.5 kg. There were 134 dilations during 39 procedures in 25 patients. The success rate for initial dilations was 51%. In multivariate analysis, successful dilation was more likely (1) in distal than in central pulmonary arteries (P=0.02), (2) if the balloon waist resolved with inflation (P=0.001), and (3) with larger balloon/stenosis ratio (P<0.001). RV pressure was unchanged after dilation (96+/-30 versus 97+/-31 mm Hg), primarily because of failure to enlarge central pulmonary arteries. The Ao pressure increased (102+/-14 versus 109+/-19 mm Hg, P=0.03), and the RV/Ao pressure ratio decreased (0.97+/-0.34 versus 0.91+/-0.30, P=0.05). Aneurysms developed after 24 dilations (18%) and were not related to balloon/stenosis ratio. Balloon rupture in 12 dilations produced an aneurysm in all 7 cases when rupture was in a hypoplastic segment. Three patients died, none from pulmonary artery trauma, and all before 1994. Conclusions-Mortality occurred early in our experience. Despite successful dilation of distal pulmonary arteries, there was modest initial hemodynamic improvement, mainly because of persistent central pulmonary artery obstruction. A serial approach of distal dilations followed by surgical repair of proximal obstruction may be a rational and successful therapy.


Record 4

Cleft palate in a patient with Williams' syndrome. Blanco-Davila F; Olveda-Rodriguez JA Division of Plastic and Reconstructive Surgery, Craniofacial Surgery Clinic, University Hospital Dr. Jose E. Gonzalez, Autonomous University of Nuevo Leon, Monterrey, NL Mexico. [email protected] Journal of craniofacial surgery (United States) Mar 2001, 12 (2) p145-7, ISSN 1049-2275 Languages: ENGLISH Document type: Journal Article Record type: Completed

Cleft lip or palate has not been reported in the medical literature as a part of Williams' syndrome. We present a patient who had cleft palate among other congenital manifestations. This patient's immediate postnatal period clinically seemed to have a Pierre Robin sequence. With the development of the craniofacial complex, microgenia and micrognathia with glossoptosis gradually became apparent. On further assessment, the patient showed other clinical findings that suggested a syndromic association. This required a complete evaluation to discard other conditions that present with low psychomotor development and distinctive facies, such as Kabuki syndrome or fetal alcohol syndrome. The diagnosis for Williams' syndrome was established based on the clinical features and supported by the fluorescent in situ hybridization test. Williams' syndrome has been described as a rare, congenital disorder characterized by physical and developmental problems. Common features include characteristic "elfin-like" facies, supravalvular aortic stenosis, hypercalcemia, low birth weight, slow weight gain, feeding problems, impulsive and outgoing personality, limited spatial skills and motor control, and intellectual disability. Although individuals with Williams' syndrome may show competence in areas such as language, music, and interpersonal relations, their IQs are usually low and they are considered moderately to mildly retarded.


Record 5

del (9p) syndrome: proposed behavior phenotype. Chilosi A; Battaglia A; Brizzolara D; Cipriani P; Pfanner L; Carey JC Stella Maris Scientific Research Institute, Division of Child Neurology and Psychiatry, Department of Procreative Medicine and Pediatrics, University of Pisa, Calambrone (Pisa), Italy. American journal of medical genetics (United States) Apr 22 2001, 100 (2) p138-44, ISSN 0148-7299 Languages: ENGLISH Document type: Journal Article Record type: Completed

Over recent years interest in the study of behavior phenotypes has gained increasing momentum. We present three white female patients, age respectively 9 years 9 months, 14 years 6 months and 18 years at the time of the last observation, seen because of developmental delay/mental retardation, seizures and learning disabilities. Cytogenetic analysis showed a de novo deletion of the short arm of chromosome 9 in all three, with the breakpoint being located at band 9p22. Although several studies have described the somatic phenotype, analytical evaluation of verbal and non-verbal cognitive functions are lacking. Our patients received a detailed neuropsychological and linguistic evaluation that showed a particular behavior profile, in the context of mental retardation of variable degree. On sblective tests there was a marked deficit in visuo-praxic and visuo-spatial skills associated with memory disturbance. Visuo-motor integration abilities [VMI; Beery, 1997] and visuo-perceptual and visuo-spatial abilities [Benton line orientation test, 1992] seemed particularly impaired, both in relation to verbal mental age (vocabulary and grammatical production/comprehension) and to some non-verbal competencies [Benton face recognition test, 1992]. The profile shows advanced performances in face recognition. In addition, there is also a dissociation between verbal and visuo-spatial short term memory. This behavior phenotype is similar to that of Williams syndrome (WS) individuals. Our patients also showed some unusual within-domain dissociations regarding linguistic abilities. To better demonstrate similarities and differences between the behavior phenotypes of the del (9p22) syndrome and WS, we studied three IQ-gender-matched WS subjects. The comparison between the cognitive phenotypes of the two syndromes shows similarities in neuropsychological pattern. We hypothesize that there is a gene within the 9p22 region responsible for the neuropsychological profile described here. Copyright 2001 Wiley-Liss, Inc.


Record 6

Congenital supravalvar aortic stenosis: a simple lesion? Stamm C; Friehs I; Ho SY; Moran AM; Jonas RA; del Nido PJ Department of Cardiac Surgery, Children's Hospital Boston, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115, USA. stamm [email protected] European journal of cardio-thoracic surgery (England) Feb 2001, 19 (2) p195-202, ISSN 1010-7940 Languages: ENGLISH Document type: Journal Article; Review; Review, Tutorial Record type: Completed

The underlying cause of congenital supravalvular aortic stenosis (SVAS) has recently been identified as a loss-of function mutation of the elastin gene on chromosome 7q11.23, resulting in an obstructive arteriopathy of varying severity, which is most prominent at the aortic sinutubular junction. The generalized nature of the disease explains the frequent association with stenoses of systemic and pulmonary arteries. Furthermore, localization of the supravalvular stenosis at the level of the commissures of the aortic valve has important implications for both aortic valve function and coronary circulation. This review summarizes the recent advances with regard to the pathogenesis of SVAS and describes the multitude of clinically relevant pathologic features other that the mere 'supra-aortic' narrowing that have important implications for surgical therapy. (84 Refs.)


Record 7

Assessment of the influence of background noise on escape-maintained problem behavior and pain behavior in a child with Williams syndrome. O'Reilly MF; Lacey C; Lancioni GE Department of Psychology, National University of Ireland, Dublin, Belfield. [email protected] Journal of applied behavior analysis (United States) Winter 2000, 33 (4) p511-4, ISSN 0021-8855 Languages: ENGLISH Document type: Journal Article Record type: Completed

We examined the influence of background noise on levels of problem behavior and pain behavior under functional analysis conditions for a child with a diagnosis of Williams syndrome and hyperacusis. Background noise was associated with increases in escape-maintained problem behavior and increases in pain behavior such as clasping ears and crying. When the child was fitted with earplugs, there were substantial reductions in both problem and pain behavior under the background noise condition.


Record 8

Genetics of childhood disorders: XXVI. Williams syndrome and brain-behavior relationships. Schultz RT; Grelotti DJ; Pober B Child Study Center, Yale University School of Medicine, New Haven, CT 06520, USA. Journal of the American Academy of Child and Adolescent Psychiatry ( United States) May 2001, 40 (5) p606-9, ISSN 0890-8567 Languages: ENGLISH Document type: Journal Article Record type: In Process


Record 9

Pathology of the diffuse variant of supravalvar aortic stenosis. Vaideeswar P; Shankar V; Deshpande JR; Sivaraman A; Jain N Department of Pathology, Cardiovascular and Thoracic Division, Seth G.S. Medical College and K.E.M. Hospital, Parel, 400 012, Mumbai, India Cardiovascular pathology (United States) Jan-Feb 2001, 10 (1) p33-7, ISSN 1054-8807 Languages: ENGLISH Document type: Journal Article Record type: In Process

Supravalvar aortic stenosis is a rare congenital heart anomaly, producing left ventricular outflow tract obstruction. Of the two anatomic variants that have been described, diffuse type is the rarest. We report five such cases in children between two months and nine years of age. None had features of Williams syndrome. The entire aorta was involved in three cases, with abdominal aortic coarctation in two cases. Stenosis was mainly due to involvement of the media, which showed smooth muscle hypertrophy, abnormal elastic fibers, and mild collagenization. Predominant intimal change was seen in one case. Pulmonary, coronary, arch, renal, and common iliac arteries were also involved.


Record 10

Stojanovik V; Perkins M; Howard S Department of Human Communication Sciences, University of Sheffield, Sheffield S10 2TA. International journal of language & communication disorders (England) 2001, 36 Suppl p234-9, ISSN 1368-2822 Languages: ENGLISH Document type: Journal Article Record type: In Process

Grammatical performance of individuals with Williams syndrome (WS) has been reported as being unimpaired, despite their comparatively low IQ and poor general cognitive ability. Specific language impairment (SLI) is often seen as the converse of WS, showing poor linguistic ability relative to level of cognitive functioning. Detailed profiles of language functioning in four children with WS and four with SLI are presented which show a much less clear-cut picture than is often portrayed and suggest that children with WS may be less linguistically able than is commonly reported. A comparison of results on standardised tests with performance in real conversations shows that not only the children with SLI but also those with WS have significant linguistic difficulties. This has clear implications for their management by speech and language therapists.


Record 11

[Williams syndrome: new insights into genetic etiology, pathogenesis and clinical aspects] Williams-syndroom: nieuwe inzichten in genetische etiologie, pathogenese en kliniek. van Hagen JM; Govaerts LC; de Coo IF; Gille JJ; Nieuwint AW; Madan K VU Medisch Centrum, afd. Klinische Genetica en Antropogenetica, Postbus 7057, 1007 MB Amsterdam. [email protected] Nederlands tijdschrift voor geneeskunde (Netherlands) Mar 3 2001, 145 (9) p396-400, ISSN 0028-2162 Languages: DUTCH Document type: Journal Article; Review; Review, Tutorial ; English Abstract Record type: Completed

Williams syndrome (WS) is a developmental disorder characterized by distinct facial features, congenital heart disease, mental retardation and a gregarious personality. The majority of people with this disorder have a submicroscopic deletion of genes in chromosome band 7q11.23. This deletion can be detected using fluorescence in situ hybridization (FISH). Although the condition is usually sporadic a few familial cases with autosomal dominant inheritance have been described. A clinical scoring system has been developed by Selicorni with which a diagnosis of 'Williams syndrome' can be made; in all patients in whom the diagnosis was made in this way FISH results were positive. (22 Refs.)


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