83 results on '"Williams Syndrome epidemiology"'
Search Results
2. Arrhythmias in Williams Syndrome.
- Author
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Deitch AM, Giacone HM, Chubb H, Algaze CA, Lechich KM, and Collins RT
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- Humans, Female, Child, Male, Retrospective Studies, Arrhythmias, Cardiac epidemiology, Arrhythmias, Cardiac etiology, Electrocardiography, Electrocardiography, Ambulatory, Death, Sudden, Cardiac epidemiology, Death, Sudden, Cardiac etiology, Williams Syndrome complications, Williams Syndrome epidemiology
- Abstract
Williams syndrome (WS) is a congenital, multisystem disorder in which 80% of patients have cardiovascular abnormalities. Sudden cardiac death occurs 25 to 100 times more often in WS than in the general population, and cardiac repolarization is abnormal in WS. We sought to determine the prevalence of primary arrhythmias in patients with WS and whether QTc prolongation impacts arrhythmia risk. We retrospectively reviewed all patients with WS with ambulatory electrocardiogram (ECG) monitoring at our institution between October 2017 and January 2022. The primary outcome was the presence of arrhythmia. Predictors pre-determined for analysis included premature ventricular and atrial complex burden (%), degree of QTc change with varying heart rates, intervals and rhythm on 12-lead ECG, age, gender, symptomatology, and clinical and surgical history. A total of 74 patients (55% female, median age 8 years (3, 13) underwent 108 ambulatory monitors. Arrhythmias were present in 9 patients (12%). Within this group of 9 patients, 18/24 serial monitors were abnormal, and 3/9 patients (33%) had >1 arrhythmia type. Older age (p = 0.002) and symptoms (syncope, p = 0.005) were associated with arrhythmias. Arrhythmia was not associated with the degree of structural heart disease. Atrial tachycardia was the most identified arrhythmia (n = 6; 67% of patients with arrhythmias and 8% of the total cohort). The QTc abnormally increased with higher heart rates in all groups. There was a higher number of premature ventricular and atrial complexes per hour in patients with arrhythmias. In conclusion, atrial arrhythmias were the most common arrhythmia in patients with WS and routine ambulatory ECG and intermittent rhythm monitoring are indicated in WS, particularly given the high risk of sudden cardiac death in WS., Competing Interests: Disclosures The authors have no conflict of interests to declare., (Published by Elsevier Inc.)
- Published
- 2023
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3. Celiac disease prevalence and predisposing-HLA in a cohort of 93 Williams-Beuren syndrome patients.
- Author
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Ghisleni C, Parma B, Cianci P, De Paoli A, Pangallo E, Agovino T, Cereda A, Bedeschi MF, Villa R, Fossati C, Modena P, Giudici C, Morando C, Memo L, Onesimo R, Zampino G, Salvatore S, Agosti M, and Selicorni A
- Subjects
- Humans, Young Adult, Adult, Transglutaminases, Haplotypes, Genetic Predisposition to Disease, Celiac Disease complications, Celiac Disease epidemiology, Celiac Disease genetics, Williams Syndrome complications, Williams Syndrome epidemiology, Williams Syndrome genetics, Autoimmune Diseases
- Abstract
Williams-Beuren syndrome is considered to be at increased risk for celiac disease, as for recent literature data and celiac disease guidelines, despite pathogenic mechanisms are still unclear. Our study analyzed the prevalence of autoimmune disorders, HLA DQ2 and/or DQ8 haplotypes, of transglutaminase antibodies and of diagnosis of celiac disease in a cohort of 93 Williams-Beuren syndrome's patients (mean age 21.26 years). Our study showed an increased prevalence of celiac disease equal to 10.8% (10/93 patients). We did not find a significant different frequency of predisposing HLA in subjects with Williams-Beuren syndrome compared to literature data in the general population (49.5% vs. 42.9%, with p > .1), nor a susceptibility to autoimmunity. This suggests that the increased prevalence of celiac disease in Williams-Beuren syndrome cannot be ascribed to HLA haplotype and may be related to other factors that still need to be identified in these patients., (© 2022 Wiley Periodicals LLC.)
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- 2023
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4. Clinical phenotypes study of 231 children with Williams syndrome in China: A single-center retrospective study.
- Author
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Li FF, Chen WJ, Yao D, Xu L, Shen JY, Zeng Y, Shi Z, Ye XW, Kang DH, Xu B, Shao J, and Ji C
- Subjects
- Humans, Retrospective Studies, Hypercalciuria, Hoarseness, Phenotype, Williams Syndrome epidemiology, Williams Syndrome genetics, Williams Syndrome diagnosis, Hypercalcemia, Hernia, Inguinal, Aortic Stenosis, Supravalvular genetics, Heart Septal Defects, Ventricular, Hypothyroidism
- Abstract
Background: Williams syndrome (WS) is a multisystem neurodevelopmental disorder caused by microdeletions in 7q11.23. This study aims to characterize the clinical phenotypes of Chinese children with WS to help for the early diagnosis and intervention of this disease., Methods: 231 children diagnosed with WS were retrospectively recruited to the study. Clinical data were analyzed to obtain the incidence of different clinical phenotypes. The occurrence of phenotypes and the influence of gender and age on the incidence of different phenotypes were analyzed., Results: All WS exhibited facial dysmorphism (100.0%). The majority had neurodevelopmental disorder (91.8%), hoarseness (87.4%) and cardiovascular anomalies (85.7%). The incidence of short stature (46.9%), inguinal hernia (47.2%), hypercalciuria (29.10%), hypercalcemia (9.1%), subclinical hypothyroidism (26.4%) and hypothyroidism (7.4%) were relatively higher. Gender differences were found in supravalvular aortic stenosis (SVAS, p < .001), ventricular septal defect (VSD, p < .05), inguinal hernia (p < .001), superior pulmonary stenosis (SVPS, p < .05) and neurodevelopmental disorder (p < .05). The incidence of neurodevelopmental disorder in WS increased with age (p < .05) while cardiovascular anomalies (p < .001), short stature (p < .001), hypercalciuria (p < .001) and hypercalcemia (p < .01) decreased with age., Conclusions: Facial dysmorphism, neurodevelopmental disorder, hoarseness and cardiovascular anomalies were the most common phenotypes. Genetic testing should be suggested to confirm the diagnosis for children with the above abnormalities. Gender and age should be taken into account when making diagnosis and intervention., (© 2022 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC.)
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- 2022
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5. Nationwide questionnaire data of 229 Williams-Beuren syndrome patients using WhatsApp tool.
- Author
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Pires LVL, Ribeiro RL, Sousa AM, Linnenkamp BDW, Pontes SE, Teixeira MCTV, Befi-Lopes DM, Honjo RS, Bertola DR, and Kim CA
- Subjects
- Brazil, Child, Preschool, Humans, Surveys and Questionnaires, Aortic Stenosis, Supravalvular, Williams Syndrome epidemiology
- Abstract
Background: Williams-Beuren syndrome is a multisystemic disorder caused by a microdeletion of the 7q11.23 region. Although familial cases with autosomal dominant inheritance have been reported, the vast majority are sporadic., Objective: To investigate the main complaints and clinical findings of patients with Williams-Beuren syndrome., Methods: A total of 757 parents of patients registered in the Brazilian Association of Williams-Beuren Syndrome (ABSW) received a questionnaire via WhatsApp from March to July 2017., Results: In total, 229 parents answered the survey. Age of diagnosis ranged from 2 days to 34 years (median: 3 years). The main clinical findings reported by the parents were abdominal colic (83.3%), failure to thrive (71.5%), feeding difficulty in the first year (68.9%), otitis (56.6%), urinary tract infections (31.9%), precocious puberty (27.1%) and scoliosis (15.9%). Cardiac defects were present in 66% of patients, and the most frequent defect was supravalvular aortic stenosis (36%). Arterial hypertension was reported in 23%. Hypercalcemia was reported in 10.5% of patients, mainly during the first year of life. Hyperacusis and hypersociability were common complaints (both present in 89%). Other behavioral and neuropsychiatric symptoms reported by the parents included attention deficit (89%), anger crises (83%), excessive fear (66%), depression (64%), anxiety (67%) and hypersexuality (33%). The most common complaints were hypersensitivity to sounds, talkative personality, emotional dependence and learning difficulties. In 98.3%, the parents denied family history., Conclusions: Williams-Beuren syndrome requires close follow-up with different medical specialties due to their variable clinical comorbidities, including language and school learning difficulties, behavioral and psychiatric problems.
- Published
- 2021
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6. Williams syndrome.
- Subjects
- Humans, Williams Syndrome diagnosis, Williams Syndrome epidemiology
- Published
- 2021
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7. Peer Relationships in Children with Williams Syndrome: Parent and Teacher Insights.
- Author
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Gillooly AE, Riby DM, Durkin K, and Rhodes SM
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- Adolescent, Child, Female, Friends psychology, Humans, Interpersonal Relations, Male, Motivation physiology, Social Adjustment, Surveys and Questionnaires, Williams Syndrome diagnosis, Williams Syndrome epidemiology, Parents psychology, Peer Group, School Teachers psychology, Social Skills, Williams Syndrome psychology
- Abstract
Although children with Williams syndrome (WS) are reported to show a strong motivation towards social interaction, evidence suggests many experience difficulties with peer relations. Less is known regarding the characteristics of such difficulties. Parents and teachers of 21 children with WS (7- to 16 years) completed questionnaires measuring aspects of social functioning and peer interactions. Parents and teachers reported that children with WS demonstrated significantly greater peer problems than population norms, including difficulties sustaining friendships and increased social exclusion. More substantial social functioning difficulties were associated with greater peer relation problems. The study provides multi-informant evidence of peer relationship difficulties in children with WS that require further consideration within the broader WS social phenotype.
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- 2021
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8. Symptoms of Autism Spectrum Disorder in Children With Down Syndrome and Williams Syndrome.
- Author
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Kirchner RM and Walton KM
- Subjects
- Adaptation, Psychological, Child, Humans, Autism Spectrum Disorder epidemiology, Down Syndrome epidemiology, Williams Syndrome epidemiology
- Abstract
Research suggests that people with a Williams syndrome (WS) or Down syndrome (DS) diagnosis display an increased prevalence of autism spectrum disorder (ASD) when compared to the general population. This study aimed to examine characteristics of ASD in a group of children with DS or WS. Results suggest that children with DS and WS exhibit higher levels of autism symptoms than the general population, particularly in the area of unusual behaviors, and that these elevations are not solely due to deficits in adaptive behavior. There are many possible explanations for these elevations, such as issues with measurement, etiological overlap, or similar behavioral phenotypes. More research is needed to further our understanding of the overlap of ASD symptoms in these populations., (©AAIDD.)
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- 2021
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9. The Underreporting of Vision Problems in Statutory Documents of Children with Williams Syndrome and Down Syndrome.
- Author
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Harvey H, Ashworth M, Palikara O, and Van Herwegen J
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- Child, Documentation trends, Down Syndrome epidemiology, England epidemiology, Female, Humans, Male, State Medicine trends, Vision Disorders epidemiology, Williams Syndrome epidemiology, Documentation standards, Down Syndrome diagnosis, State Medicine standards, Vision Disorders diagnosis, Williams Syndrome diagnosis
- Abstract
Vision problems can lead to negative developmental outcomes. Children with Williams syndrome and Down syndrome are at higher risk of vision problems, and these are less likely to be detected due to diagnostic overshadowing and difficulty accessing eye-care. Education, Health and Care (EHC) plans are statutory documents, introduced by the Children and Families Act 2014 in England, with the intention of integrating provision across these domains. Vision issues should be reported in these plans, and recommendations made about appropriate adjustments for them. We analysed the EHC plans from 53 children with Down or Williams syndrome. Our results showed significant underreporting, especially for children with Williams syndrome, and little explanation of what adjustments should be made. We also report pockets of good practice.
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- 2020
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10. Social, neurodevelopmental, endocrine, and head size differences associated with atypical deletions in Williams-Beuren syndrome.
- Author
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Lugo M, Wong ZC, Billington CJ Jr, Parrish PCR, Muldoon G, Liu D, Pober BR, and Kozel BA
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- Adolescent, Adult, Aged, Child, Child, Preschool, Chromosome Deletion, Female, Head abnormalities, Head physiopathology, Humans, Infant, Male, Middle Aged, Multiple Endocrine Neoplasia epidemiology, Multiple Endocrine Neoplasia physiopathology, Neurodevelopmental Disorders epidemiology, Neurodevelopmental Disorders physiopathology, Organ Size genetics, Phenotype, Williams Syndrome epidemiology, Williams Syndrome physiopathology, Young Adult, Chromosomes, Human, Pair 7 genetics, Multiple Endocrine Neoplasia genetics, Neurodevelopmental Disorders genetics, Williams Syndrome genetics
- Abstract
Williams-Beuren syndrome (WBS) is a multisystem disorder caused by a hemizygous deletion on 7q11.23 encompassing 26-28 genes. An estimated 2-5% of patients have "atypical" deletions, which extend in the centromeric and/or telomeric direction from the WBS critical region. To elucidate clinical differentiators among these deletion types, we evaluated 10 individuals with atypical deletions in our cohort and 17 individuals with similarly classified deletions previously described in the literature. Larger deletions in either direction often led to more severe developmental delays, while deletions containing MAGI2 were associated with infantile spasms and seizures in patients. In addition, head size was notably smaller in those with centromeric deletions including AUTS2. Because children with atypical deletions were noted to be less socially engaged, we additionally sought to determine how atypical deletions relate to social phenotypes. Using the Social Responsiveness Scale-2, raters scored individuals with atypical deletions as having different social characteristics to those with typical WBS deletions (p = .001), with higher (more impaired) scores for social motivation (p = .005) in the atypical deletion group. In recognizing these distinctions, physicians can better identify patients, including those who may already carry a clinical or FISH WBS diagnosis, who may benefit from additional molecular evaluation, screening, and therapy. In addition to the clinical findings, we note mild endocrine findings distinct from those typically seen in WBS in several patients with telomeric deletions that included POR. Further study in additional telomeric deletion cases will be needed to confirm this observation., (Published 2020. This article is a U.S. Government work and is in the public domain in the USA.)
- Published
- 2020
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11. Brief Report: Challenging Behaviors in Toddlers and Preschoolers with Angelman, Prader-Willi, and Williams Syndromes.
- Author
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Neo WS and Tonnsen BL
- Subjects
- Angelman Syndrome diagnosis, Angelman Syndrome epidemiology, Child Behavior Disorders diagnosis, Child Behavior Disorders epidemiology, Child, Preschool, Female, Humans, Infant, Male, Prader-Willi Syndrome diagnosis, Prader-Willi Syndrome epidemiology, Research Report, Williams Syndrome diagnosis, Williams Syndrome epidemiology, Angelman Syndrome psychology, Child Behavior Disorders psychology, Prader-Willi Syndrome psychology, Williams Syndrome psychology
- Abstract
Children with neurogenetic syndromes (NGS) experience comorbid challenging behaviors and psychopathology. We examined challenging behaviors in 86 toddlers and preschoolers across three NGS [Angelman syndrome (AS), Prader-Willi syndrome (PWS), and Williams syndrome (WS)] and 43 low-risk controls (LRC), using the Child Behavior Checklist for Ages 1½-5. Challenging behavior profiles differed across NGS, with generally elevated behaviors in AS and WS, but not PWS, relative to LRC. Withdrawn and autism spectrum symptoms were particularly elevated in AS. Although several profiles were similar to those previously reported in older children and adults, we also observed inconsistencies that suggest non-linear developmental patterns of challenging behaviors. These findings underscore the importance of characterizing early challenging behaviors to inform atypical phenotypic development and targeted intervention.
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- 2019
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12. Parent-Reported Communication Abilities of Children with Sotos Syndrome: Evidence from the Children's Communication Checklist-2.
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Lane C, Van Herwegen J, and Freeth M
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- Adolescent, Child, Child, Preschool, Communication, Communication Disorders psychology, Female, Humans, Interpersonal Relations, Language, Language Tests, Male, Sotos Syndrome psychology, Williams Syndrome diagnosis, Williams Syndrome epidemiology, Williams Syndrome psychology, Checklist methods, Communication Disorders diagnosis, Communication Disorders epidemiology, Parents psychology, Sotos Syndrome diagnosis, Sotos Syndrome epidemiology
- Abstract
Sotos syndrome is a congenital overgrowth syndrome associated with intellectual disability. This study investigated communicative abilities of children with Sotos syndrome (n = 31), using the Children's Communication Checklist, second edition. A cross-syndrome approach was used to establish the specificity of these abilities. Children with Williams syndrome (n = 34) were used as a comparison group. In both groups, the majority of participants had communicative impairment. Children with Sotos syndrome had an uneven pragmatic language profile and greater impairment with social relations, compared with restricted interests. Overall, children with Sotos syndrome had difficulties with both language structure and pragmatic language and a specific profile of relative difficulty with using nonverbal communication, using context-appropriate language and understanding peer relationships.
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- 2019
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13. Maternal Interactive Behaviours in Parenting Children with Williams Syndrome and Autism Spectrum Disorder: Relations with Emotional/Behavioural Problems.
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Baptista J, Sampaio A, Fachada I, Osório A, Mesquita AR, Garayzabal E, Duque F, Oliveira G, and Soares I
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- Adult, Affective Symptoms diagnosis, Affective Symptoms epidemiology, Autism Spectrum Disorder diagnosis, Autism Spectrum Disorder epidemiology, Child, Child, Preschool, Cross-Sectional Studies, Female, Humans, Male, Mothers psychology, Parenting psychology, Williams Syndrome diagnosis, Williams Syndrome epidemiology, Affective Symptoms psychology, Autism Spectrum Disorder psychology, Mother-Child Relations psychology, Problem Behavior psychology, Williams Syndrome psychology
- Abstract
This study compared maternal responsiveness to children with two neurodevelopmental disorders sharing different but, in some cases, overlapping social phenotypes-Williams syndrome (WS) and autism spectrum disorder (ASD)-and explored the relations between maternal responsiveness and child emotional/behavioural problems (EBP). The sample included 16 pre-schoolers with WS and 43 with ASD, and their mothers. Responsiveness was assessed during a mother-child interaction task. Mothers completed the CBCL 1½-5, providing a measure of EBP. No significant differences emerged between groups, and most dyads were characterized by less responsive behaviours. Maternal responsiveness proved related to child developmental age, but not with EBP. These results provide further insight into the rearing environment of children with neurodevelopmental disorders, highlighting the need for early relationship-based interventions.
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- 2019
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14. Signs indicating dementia in Down, Williams and Fragile X syndromes.
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Sauna-Aho O, Bjelogrlic-Laakso N, Siren A, and Arvio M
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- Adult, Aged, Female, Humans, Male, Middle Aged, Risk Factors, Dementia epidemiology, Dementia physiopathology, Down Syndrome epidemiology, Down Syndrome physiopathology, Fragile X Syndrome epidemiology, Fragile X Syndrome physiopathology, Williams Syndrome epidemiology, Williams Syndrome physiopathology
- Abstract
Background: Intellectual disability (ID) and dementia reflect disturbed cortical function during and after developmental age, respectively. Due to the wide heterogeneity of ID population the decline in cognitive and adaptive skills may be different in distinct genetic subgroups., Methods: Using the British Present Psychiatric State-learning Disabilities assessment (PPS-LD) questionnaire the dementia signs were screened in 62, 22 and 44 individuals (> 35 year of age) with Down (DS, OMIM number 190685), Williams (WS, OMIM number, 194050), and Fragile X syndrome (FXS, OMIM number 309550), respectively. The median age of those with FXS (59 years) was higher than of those with DS (50 years) and WS (53 years)., Results: Most study participants with DS (80%) and FXS (89%) were or had been moderately or severely intellectually disabled while most participants with WS (73%) were or had been mildly or moderately disabled at adolescent age. The adolescent (premorbid) level of ID did not correlate with the dementia score. The median scores were 11/27, 1/27, and 0/27 in DS, WS, and FXS subgroups, respectively. Dementia that was confirmed by brain imaging, manifested as Alzheimer disease and as moya-moya disease associated vascular dementia in DS and as vascular dementia in WS., Conclusions: This survey suggests that the risk of dementia varies depending on the cause of ID and that the severity of ID in adolescence does not predict the development of dementia at a later age. Consequently, the ID and dementia should be understood as separate clinical entities that need to be taken into account in the health management of intellectually disabled people. This is important for the arrangement of appropriate and timely interventions, which can be expected to delay the need for institutionalization., (© 2018 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.)
- Published
- 2018
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15. Autism Spectrum Symptomatology in Children with Williams Syndrome Who Have Phrase Speech or Fluent Language.
- Author
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Klein-Tasman BP, van der Fluit F, and Mervis CB
- Subjects
- Adolescent, Autism Spectrum Disorder diagnosis, Child, Child, Preschool, Communication, Female, Humans, Male, Williams Syndrome diagnosis, Autism Spectrum Disorder epidemiology, Autism Spectrum Disorder psychology, Language, Speech physiology, Williams Syndrome epidemiology, Williams Syndrome psychology
- Abstract
To characterize autism spectrum-related symptomatology in children with Williams syndrome (WS) with phrase speech or fluent language, the Autism Diagnostic Observation Schedule Module 2 or 3 was administered. The cutoff for autism spectrum was met by 35% (14/40) who completed Module 2 and 30% (18/60) who completed Module 3. Similarities and differences in socio-communicative strengths and weaknesses as a function of language ability were identified. Symptom severity was negatively associated with IQ for participants with phrase speech but not for those with fluent language. The findings suggest an elevated risk of ASD for individuals with WS relative to the general population and contribute to a more nuanced sense of the socio-communicative functioning of children with WS.
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- 2018
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16. Diagnosis and management of systemic hypertension due to renovascular and aortic stenosis in patients with Williams-Beuren syndrome.
- Author
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Furusawa EA, Esposito CSL, Honjo RS, Suzuki L, Leal GN, Kim CA, and Schvartsman BGS
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- Adolescent, Adult, Brazil epidemiology, Child, Child, Preschool, Echocardiography, Doppler, Female, Humans, Hypertension diagnostic imaging, Hypertension epidemiology, Incidence, Infant, Magnetic Resonance Angiography, Male, Prospective Studies, Renal Artery Obstruction diagnostic imaging, Renal Artery Obstruction epidemiology, Ultrasonography, Doppler, Williams Syndrome diagnostic imaging, Williams Syndrome epidemiology, Young Adult, Hypertension etiology, Renal Artery Obstruction complications, Williams Syndrome complications
- Abstract
Aim: To describe the incidence, diagnosis, and management of systemic arterial hypertension related to renal artery stenosis in patients with Williams-Beuren syndrome., Methods: Sixty-five patients with Williams-Beuren syndrome were evaluated for hypertension. Enrolled patients underwent Doppler sonography of the renal arteries and Doppler echocardiography. Those with Doppler sonography-detected lesions or with normal Doppler sonography but severe hypertension underwent computed tomography or gadolinium-enhanced magnetic resonance angiography of the aorta and renal vessels. Patients needing vascular therapeutic intervention underwent conventional angiography., Results: Systemic arterial hypertension was diagnosed in 21/65 patients with Williams-Beuren syndrome (32%; 13 male) with a mean age of 13.9 years (5mo-20yrs). In 8/21 patients renovascular hypertension was detected. Angioplasty was unsuccessful in five patients with renal artery stenosis, requiring additional treatment. Doppler echocardiography showed cardiac abnormalities in 16/21 (76%) hypertensive patients., Conclusion: Cardiac abnormalities and hypertension in patients with Williams-Beuren syndrome are common. Thus, thorough evaluation and follow-up are necessary to reduce cardiovascular risks and mortality of these patients.
- Published
- 2018
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17. An estimation of the prevalence of genomic disorders using chromosomal microarray data.
- Author
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Gillentine MA, Lupo PJ, Stankiewicz P, and Schaaf CP
- Subjects
- Charcot-Marie-Tooth Disease genetics, Charcot-Marie-Tooth Disease pathology, Chromosome Deletion, Chromosome Duplication, Chromosome Mapping, DNA Copy Number Variations, DiGeorge Syndrome genetics, DiGeorge Syndrome pathology, Humans, Microarray Analysis, Molecular Epidemiology, Penetrance, Prader-Willi Syndrome genetics, Prader-Willi Syndrome pathology, Prevalence, Smith-Magenis Syndrome genetics, Smith-Magenis Syndrome pathology, Williams Syndrome genetics, Williams Syndrome pathology, Charcot-Marie-Tooth Disease epidemiology, DiGeorge Syndrome epidemiology, Genome, Human, Models, Genetic, Prader-Willi Syndrome epidemiology, Smith-Magenis Syndrome epidemiology, Williams Syndrome epidemiology
- Abstract
Multiple genomic disorders result from recurrent deletions or duplications between low copy repeat (LCR) clusters, mediated by nonallelic homologous recombination. These copy number variants (CNVs) often exhibit variable expressivity and/or incomplete penetrance. However, the population prevalence of many genomic disorders has not been estimated accurately. A subset of genomic disorders similarly characterized by CNVs between LCRs have been studied epidemiologically, including Williams-Beuren syndrome (7q11.23), Smith-Magenis syndrome (17p11.2), velocardiofacial syndrome (22q11.21), Prader-Willi/Angelman syndromes (15q11.2q12), 17q12 deletion syndrome, and Charcot-Marie-Tooth neuropathy type 1/hereditary neuropathy with liability to pressure palsy (PMP22, 17q11.2). We have generated a method to estimate prevalence of highly penetrant genomic disorders by (1) leveraging epidemiological data for genomic disorders with previously reported prevalence estimates, (2) obtaining chromosomal microarray data on genomic disorders from a large medical genetics clinic; and (3) utilizing these in a linear regression model to determine the prevalence of this syndromic copy number change among the general population. Using our algorithm, the prevalence for five clinically relevant recurrent genomic disorders: 1q21.1 microdeletion (1/6882 live births) and microduplication syndromes (1/6309), 15q13.3 microdeletion syndrome (1/5525), and 16p11.2 microdeletion (1/3021) and microduplication syndromes (1/4216), were determined. These findings will inform epidemiological strategies for evaluating those conditions, and our method may be useful to evaluate the prevalence of other highly penetrant genomic disorders.
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- 2018
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18. Autism Spectrum Symptomatology Among Children with Duplication 7q11.23 Syndrome.
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Klein-Tasman BP and Mervis CB
- Subjects
- Adaptation, Psychological physiology, Adolescent, Autism Spectrum Disorder epidemiology, Child, Child, Preschool, Cross-Sectional Studies, Female, Humans, Male, Surveys and Questionnaires, Williams Syndrome epidemiology, Autism Spectrum Disorder diagnosis, Autism Spectrum Disorder psychology, Williams Syndrome diagnosis, Williams Syndrome psychology
- Abstract
Gold-standard diagnostic assessments of autism spectrum disorder (ASD) symptomatology were conducted on 63 children (mean CA: 8.81 years) with 7q11.23 duplication syndrome, one of the copy number variants identified by Sanders et al. (Neuron 70:863-885, 2011a) as associated with ASD. ASD classification rate was 39.6% for the Autism Diagnostic Interview-Revised and 25.4% for the Autism Diagnostic Observation Schedule-2 (ADOS-2). Based on these assessments combined with clinical judgment, 19.0% of children were diagnosed with ASD. Reasons for these discrepancies are discussed, as are differences in rate of diagnosis as a function of sex, age, and ADOS-2 module administered and differences in intellectual and adaptive behavior abilities as a function of presence or absence of ASD diagnosis and ADOS-2 module administered. Implications are addressed.
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- 2018
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19. Williams-Beuren syndrome in diverse populations.
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Kruszka P, Porras AR, de Souza DH, Moresco A, Huckstadt V, Gill AD, Boyle AP, Hu T, Addissie YA, Mok GTK, Tekendo-Ngongang C, Fieggen K, Prijoles EJ, Tanpaiboon P, Honey E, Luk HM, Lo IFM, Thong MK, Muthukumarasamy P, Jones KL, Belhassan K, Ouldim K, El Bouchikhi I, Bouguenouch L, Shukla A, Girisha KM, Sirisena ND, Dissanayake VHW, Paththinige CS, Mishra R, Kisling MS, Ferreira CR, de Herreros MB, Lee NC, Jamuar SS, Lai A, Tan ES, Ying Lim J, Wen-Min CB, Gupta N, Lotz-Esquivel S, Badilla-Porras R, Hussen DF, El Ruby MO, Ashaat EA, Patil SJ, Dowsett L, Eaton A, Innes AM, Shotelersuk V, Badoe Ë, Wonkam A, Obregon MG, Chung BHY, Trubnykova M, La Serna J, Gallardo Jugo BE, Chávez Pastor M, Abarca Barriga HH, Megarbane A, Kozel BA, van Haelst MM, Stevenson RE, Summar M, Adeyemo AA, Morris CA, Moretti-Ferreira D, Linguraru MG, and Muenke M
- Subjects
- Anthropometry methods, Facies, Humans, Phenotype, Population Groups, Reproducibility of Results, Sensitivity and Specificity, Williams Syndrome epidemiology, Biological Variation, Population, Genetic Heterogeneity, Williams Syndrome diagnosis, Williams Syndrome genetics
- Abstract
Williams-Beuren syndrome (WBS) is a common microdeletion syndrome characterized by a 1.5Mb deletion in 7q11.23. The phenotype of WBS has been well described in populations of European descent with not as much attention given to other ethnicities. In this study, individuals with WBS from diverse populations were assessed clinically and by facial analysis technology. Clinical data and images from 137 individuals with WBS were found in 19 countries with an average age of 11 years and female gender of 45%. The most common clinical phenotype elements were periorbital fullness and intellectual disability which were present in greater than 90% of our cohort. Additionally, 75% or greater of all individuals with WBS had malar flattening, long philtrum, wide mouth, and small jaw. Using facial analysis technology, we compared 286 Asian, African, Caucasian, and Latin American individuals with WBS with 286 gender and age matched controls and found that the accuracy to discriminate between WBS and controls was 0.90 when the entire cohort was evaluated concurrently. The test accuracy of the facial recognition technology increased significantly when the cohort was analyzed by specific ethnic population (P-value < 0.001 for all comparisons), with accuracies for Caucasian, African, Asian, and Latin American groups of 0.92, 0.96, 0.92, and 0.93, respectively. In summary, we present consistent clinical findings from global populations with WBS and demonstrate how facial analysis technology can support clinicians in making accurate WBS diagnoses., (© 2018 Wiley Periodicals, Inc.)
- Published
- 2018
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20. Anxiety in Williams Syndrome: The Role of Social Behaviour, Executive Functions and Change Over Time.
- Author
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Ng-Cordell E, Hanley M, Kelly A, and Riby DM
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- Adolescent, Adult, Anxiety diagnosis, Anxiety epidemiology, Attention physiology, Child, Female, Follow-Up Studies, Humans, Male, Time Factors, Williams Syndrome diagnosis, Williams Syndrome epidemiology, Young Adult, Anxiety psychology, Executive Function physiology, Social Adjustment, Social Behavior, Williams Syndrome psychology
- Abstract
Anxiety is a prevalent mental health issue for individuals with Williams syndrome (WS). Relatively little is known about the developmental course of anxiety, or how it links with core features of WS, namely social and executive functioning (EF). In this study, parent-reports of anxiety were compared across a 4-year period (N = 17), and links between anxiety, social and EF were explored from concurrent parent-reports (N = 26). Results indicated that high anxiety persisted over time, and anxiety was related to impairments in both social and executive functioning. Importantly, results indicated that impairments in EFs may drive the links between anxiety and social functioning. This timely investigation provides new insights into anxiety in WS and highlights potential areas for intervention.
- Published
- 2018
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21. Brief Report: Repetitive Behaviour Profiles in Williams syndrome: Cross Syndrome Comparisons with Prader-Willi and Down syndromes.
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Royston R, Oliver C, Moss J, Adams D, Berg K, Burbidge C, Howlin P, Nelson L, Stinton C, and Waite J
- Subjects
- Adolescent, Adult, Cognition physiology, Down Syndrome diagnosis, Down Syndrome epidemiology, Female, Humans, Male, Middle Aged, Prader-Willi Syndrome diagnosis, Prader-Willi Syndrome epidemiology, Stereotyped Behavior physiology, Stereotypic Movement Disorder diagnosis, Stereotypic Movement Disorder epidemiology, Surveys and Questionnaires, Williams Syndrome diagnosis, Williams Syndrome epidemiology, Young Adult, Caregivers psychology, Down Syndrome psychology, Prader-Willi Syndrome psychology, Stereotypic Movement Disorder psychology, Williams Syndrome psychology
- Abstract
This study describes the profile of repetitive behaviour in individuals with Williams syndrome, utilising cross-syndrome comparisons with people with Prader-Willi and Down syndromes. The Repetitive Behaviour Questionnaire was administered to caregivers of adults with Williams (n = 96), Prader-Willi (n = 103) and Down (n = 78) syndromes. There were few group differences, although participants with Williams syndrome were more likely to show body stereotypies. Individuals with Williams syndrome also showed more hoarding and less tidying behaviours than those with Down syndrome. IQ and adaptive ability were negatively associated with repetitive questioning in people with Williams syndrome. The profile of repetitive behaviour amongst individuals with Williams syndrome was similar to the comparison syndromes. The cognitive mechanisms underlying these behaviours in genetic syndromes warrant further investigation.
- Published
- 2018
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22. Thyroid evaluation of children and adolescents with Williams syndrome in Zhejiang Province.
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Chen WJ, Ji C, Yao D, and Zhao ZY
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- Adolescent, Asymptomatic Diseases epidemiology, Child, Child, Preschool, China epidemiology, Female, Humans, Infant, Male, Prevalence, Risk Factors, Thyroid Diseases epidemiology, Thyroid Function Tests, Thyroid Gland pathology, Thyroid Gland physiopathology, Ultrasonography, Williams Syndrome diagnosis, Williams Syndrome epidemiology, Williams Syndrome physiopathology, Thyroid Diseases complications, Thyroid Diseases diagnosis, Thyroid Gland diagnostic imaging, Williams Syndrome complications
- Abstract
Background: The objective of the study was to describe the prevalence of abnormal thyroid function and volume in children and adolescents with Williams syndrome (WS) in Zhejiang Province, China., Methods: Thyroid function, including thyroid-stimulating hormone (TSH), free triiodothyronine (fT3), free thyroxine (fT4), and thyroid antibodies (thyroid peroxidase and thyroglobulin) were measured in 83 patients with WS, aged 0.2-16.5 years. Twenty-three patients were followed for an average of 1.7 years (0.4-4.1), and multiple TSH determinations were considered. Thyroid ultrasonography was performed on 49 patients., Results: One patient was diagnosed with overt hypothyroidism, and 23 patients (27%) had subclinical hypothyroidism (SH). Thyroid antibodies were absent in all patients. In five age groups (0-1 years, 1-3 years, 3-6 years, 6-9 years, 9-18 years), the prevalence of patients with subclinical hypothyroidism was 25%, 28.5%, 44.4%, 16.7% and 4.7%, respectively. Through ultrasound examination, 21 patients (42%) were observed to have thyroid hypoplasia (TH), and there were no cases of thyroid haemiagenesis. The incidence rate of TH increased with age, rising from 20% in the youngest group to 66% in the oldest., Conclusions: SH and TH is common in children and adolescents with WS. Yearly evaluation of thyroid must be performed in all patients in this population, regardless of the result of the neonatal screening. Age under 6 years and existing thyroid abnormalities are risk factors for developing SH, and a shorter follow-up interval is needed for screening in these individuals, SH is often self-limiting, and clinicians should be alert to overt hypothyroidism.
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- 2017
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23. Incontinence in children, adolescents and adults with Williams syndrome.
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von Gontard A, Niemczyk J, Borggrefe-Moussavian S, Wagner C, Curfs L, and Equit M
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- Adolescent, Adult, Age Factors, Child, Child Behavior Disorders complications, Child Behavior Disorders etiology, Child Behavior Disorders psychology, Child, Preschool, Constipation epidemiology, Constipation etiology, Fecal Incontinence epidemiology, Fecal Incontinence psychology, Female, Humans, Male, Nocturnal Enuresis etiology, Nocturnal Enuresis psychology, Parents, Prevalence, Surveys and Questionnaires, Urinary Incontinence epidemiology, Urinary Incontinence psychology, Williams Syndrome epidemiology, Williams Syndrome psychology, Young Adult, Fecal Incontinence etiology, Urinary Incontinence etiology, Williams Syndrome complications
- Abstract
Aims: Williams Syndrome (WS) is a microdeletion syndrome (chromosome 7q11.23) characterized by typical facial features, cardiovascular disease, behavioural symptoms, and mild intellectual disability (ID). The aim of this study was to assess the rates of incontinence and psychological problems in persons with WS., Methods: 231 individuals with WS were recruited through the German parent support group (52.0% male, mean age 19.4 years). Faecal incontinence (FI) was diagnosed from the age of 4 years and nocturnal enuresis (NE) and daytime urinary incontinence (DUI) of 5 years onwards. The Parental Questionnaire: Enuresis/Urinary Incontinence, the International-Consultation-on-Incontinence-Questionnaire-Pediatric LUTS (ICIQ-CLUTS), as well as the Developmental Behavior Checklist for parents (DBC-P) or for adults (DBC-A) were filled out by parents or caregivers., Results: 17.8% of the sample had NE, 5.9% DUI and 7.6% FI. NE was present in 44.9% of children (4-12 years), 13.5% of teens (13-17y), 3.3% of young adults (18-30y) and in 3.6% of adults (> 30y). DUI (and FI) decreased from 17.9% (21.4%) in children to 0% in adults. 3.5% of the sample had an ICIQ-CLUTS score in the clinical range. 30.5% of children and 22.1% of adults had a clinical DBC score. Children and teens with clinically relevant DBC-P-scores had significantly higher DUI rates., Conclusions: Children with WS have high rates of incontinence and LUTS, which decrease with age. Most adults are continent. NE is the most common subtype. Except for DUI in children, incontinence is not associated with behavioural problems. Screening, assessment and treatment of incontinence in individuals with WS is recommended. Neurourol. Urodynam. 35:1000-1005, 2016. © 2015 Wiley Periodicals, Inc., (© 2015 Wiley Periodicals, Inc.)
- Published
- 2016
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24. Predictors of specific phobia in children with Williams syndrome.
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Pitts CH, Klein-Tasman BP, Osborne JW, and Mervis CB
- Subjects
- Adolescent, Child, Comorbidity, Female, Humans, Male, Phobic Disorders epidemiology, Self-Control, Williams Syndrome epidemiology, Williams Syndrome physiopathology
- Abstract
Background: Specific phobia (SP) is the most common anxiety disorder among children with Williams syndrome (WS); prevalence rates derived from Diagnostic and Statistical Manual of Mental Disorders-based diagnostic interviews range from 37% to 56%. We evaluated the effects of gender, age, intellectual abilities and/or behaviour regulation difficulties on the likelihood that a child with WS would be diagnosed with SP., Methods: A total of 194 6-17 year-olds with WS were evaluated. To best characterise the relations between the predictors and the probability of a SP diagnosis, we explored not only possible linear effects but also curvilinear effects., Results: No gender differences were detected. As age increased, the likelihood of receiving a SP diagnosis decreased. As IQ increased, the probability of receiving a SP diagnosis also decreased. Behaviour regulation difficulties were the strongest predictor of a positive diagnosis. A quadratic relation was detected: The probability of receiving a SP diagnosis gradually rose as behaviour regulation difficulties increased. However, once behaviour regulation difficulties approached the clinical range, the probability of receiving a SP diagnosis asymptoted at a high level., Conclusion: Children with behaviour regulation difficulties in or just below the clinical range were at the greatest risk of developing SP. These findings highlight the value of large samples and the importance of evaluating for nonlinear effects to provide accurate model specification when characterising relations among a dependent variable and possible predictors., (© 2016 MENCAP and International Association of the Scientific Study of Intellectual and Developmental Disabilities and John Wiley & Sons Ltd.)
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- 2016
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25. Perioperative morbidity in children with elastin arteriopathy.
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Latham GJ, Ross FJ, Eisses MJ, Richards MJ, Geiduschek JM, and Joffe DC
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- Child, Preschool, Comorbidity, Elastin, Female, Humans, Infant, Male, Retrospective Studies, Risk Factors, Anesthesia, Heart Arrest epidemiology, Intraoperative Complications epidemiology, Postoperative Complications epidemiology, Williams Syndrome epidemiology
- Abstract
Background: Children with elastin arteriopathy (EA), the majority of whom have Williams-Beuren syndrome, are at high risk for sudden death. Case reports suggest that the risk of perioperative cardiac arrest and death is high, but none have reported the frequency or risk factors for morbidity and mortality in an entire cohort of children with EA undergoing anesthesia., Aim: The aim of this study was to present one institution's rate of morbidity and mortality in all children with EA undergoing anesthesia and to examine patient characteristics that pose the greatest risk., Methods: We reviewed medical records of children with EA who underwent anesthesia or sedation for any procedure at our institution from 1990 to 2013. Cardiovascular hemodynamic indices from recent cardiac catheterization or echocardiography were tabulated for each child. The incidence, type, and associated factors of complications occurring intraoperatively through 48 h postoperatively were examined., Results: Forty-eight patients with confirmed EA underwent a total of 141 anesthetics. There were seven cardiac arrests (15% of patients, 5% of anesthetics) and nine additional intraoperative cardiovascular complications (15% of patients, 6% of anesthetics). Extracorporeal life support was initiated in five cases. There were no perioperative deaths. All children having a cardiac arrest or complication were <3 years old and had biventricular outflow tract obstruction (BVOTO). Subgroup analysis demonstrated high rates of cardiac arrest in two groups: children with BVOTO (44%) and age <3 years old (21%)., Conclusions: We have confirmed that the rate of cardiac arrest and complications is significantly elevated in children with EA undergoing anesthesia. Children <3 years old and with BVOTO were at the greatest risk in our population., (© 2016 John Wiley & Sons Ltd.)
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- 2016
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26. Characterising the Profile of Everyday Executive Functioning and Relation to IQ in Adults with Williams Syndrome: Is the BRIEF Adult Version a Valid Rating Scale?
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Hocking DR, Reeve J, and Porter MA
- Subjects
- Adolescent, Adult, Australia epidemiology, Female, Humans, Male, Middle Aged, Neuropsychological Tests, Reproducibility of Results, Williams Syndrome epidemiology, Young Adult, Executive Function, Intelligence, Williams Syndrome physiopathology, Williams Syndrome psychology
- Abstract
Although there is evidence of a distinct profile of executive dysfunction in Williams syndrome (WS), a rare genetically based neurodevelopmental disorder, the utility of informant reports of everyday executive function (EF) impairments and their relation to intelligence is not yet clear. Here we aimed to evaluate the functional impact of executive dysfunction in adults with WS and to establish the validity of child and adult versions of the most commonly used rating scale for EF assessment, the Behaviour Rating Inventory of Executive Function (BRIEF). We were also interested in whether distinct components of everyday EF relate to intelligence in WS. Parent report child (BRIEF-C) and adult (BRIEF-A) ratings were collected on 20 adults with WS (aged 18.5 to 53 years), with a mean IQ of 60.95 (SD = 17.67). Neuropsychological measures of EF included: The Shape School Test (Espy, 2007); select subdomains of EF from the Woodcock-Johnson III Tests of Cognitive Abilities, Australian Adaptation (WJ III COG); and select subdomains from the Vineland Adaptive Behaviour Scales, Second Edition-Parent Survey (Vineland-II). Results showed that the BRIEF-A, but not the BRIEF-C, was the most highly correlated with neuropsychological measures of EF, suggesting that it was a valid measure of the profile of EF impairments in adults with WS. The profile of everyday EF dysfunction revealed relative impairments in monitoring, working memory, planning and organisation in WS. In addition, both neuropsychological and rating scale measures showed an association between the shifting component of EF and intelligence. These findings indicate that the BRIEF-A is a valid measure of the multidimensional nature of real-world impairments in EF, and highlight its utility as a less labor intensive and low-cost screening tool for measuring specific EF impairments that could become the focus of targeted intervention in adults with WS.
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- 2015
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27. [Supravalvular aortic stenosis with and without coronary lesions in pediatrics. A Lebanese study].
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Chehab G, Darido J, El-Rassi I, Gerbaka B, Smayra T, and Saliba Z
- Subjects
- Adolescent, Child, Child, Preschool, Female, Humans, Hyperlipoproteinemia Type II epidemiology, Infant, Lebanon epidemiology, Male, Pulmonary Valve Stenosis epidemiology, Registries, Retrospective Studies, Williams Syndrome epidemiology, Aortic Stenosis, Supravalvular epidemiology
- Abstract
Objective: This study aims to analyze several parameters concerning the supravalvular aortic stenosis (SVAS) in children such as age of diagnosis, place of residence, the existence of a metabolic disorder or dysmorphic syndrome and possible damage to the coronary ostia, the means of diagnosis and outcome of these patients., Materials and Methods: A large group of patients (2868) with congenital heart disease enrolled between 1 May 1999 and 30 April 2010 at the National Register of Pediatric and Congenital Heart Disease, Lebanese Society of Cardiology., Results: SVAS were found in 14 patients (0.5%) aged 8.5 months to 15 years. The Williams Beuren syndrome was the most common etiology (6 cases) without ostial stenosis, asymptomatic and not treated, followed by forms without dysmorphic syndrome (5 cases) and without ostial stenosis, one patient was operated because of severe SVAS; finally, 3 cases of homozygous familial hypercholesterolemia treated differently: a patient had a successful liver transplantation at age of 4.5 years but has developed, despite the normalization of cholesterol level, a SVAS associated with severe ostial lesions 10 years after transplantation, another treated by coronary artery bypass graft surgery and the latter treated medically., Conclusion: SVAS is a very rare disease, but its discovery must lead to search for coronary lesions especially in presence of homozygous familial hypercholesterolemia. The ultrasound monitoring is mandatory and is designed to detect this anomaly and early coronary lesions. The slightest suspicion should carry out more extensive explorations to detect ostial stenosis.
- Published
- 2015
28. Williams-Beuren Syndrome: Experience of 43 Patients and a Report of an Atypical Case from a Tertiary Care Center in India.
- Author
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Sharma P, Gupta N, Chowdhury MR, Phadke SR, Sapra S, Halder A, Ghosh M, and Kabra M
- Subjects
- Adolescent, Child, Child, Preschool, Chromosome Deletion, Chromosomes, Human, Pair 7, Female, Humans, India epidemiology, Infant, Male, Phenotype, Williams Syndrome genetics, Williams Syndrome epidemiology
- Abstract
Williams-Beuren syndrome (WBS) or Williams syndrome (OMIM 194050) is a multisystem disorder manifested by neurodevelopmental delay and is caused by a hemizygous deletion of ∼ 1.5-1.8 Mb in the 7q11.23 region. Clinical features include cardiovascular anomalies (mainly supravalvular aortic stenosis), peripheral pulmonary stenosis, distinctive facies, intellectual disability (usually mild), unique personality characteristics, and growth and endocrine abnormalities. Clinical diagnostic criteria are available for WBS; however, the mainstay of diagnosis is the detection of the contiguous gene deletion. Although FISH remains the most widely used laboratory test, the diagnosis can also be established by means of qPCR, MLPA, microsatellite marker analysis, and chromosomal microarray (CMA). We evaluated the utility of MLPA to detect deletion/duplication in the 7q11.23 region in 43 patients suspected to have WBS using MLPA kits for microdeletion syndromes. A hemizygous deletion in the 7q11.23 region was found in 41 (95.3%) patients using MLPA. One patient had an atypical deletion detected by CMA. During the initial period of this study, the results of 12 patients tested by MLPA were also confirmed by FISH. Compared to FISH and CMA, MLPA is a cheaper, high-throughput, less labor-intensive and less time-consuming technique for the diagnosis of WBS. Although CMA is expensive and labor-intensive, its effectiveness is demonstrated to detect an atypical deletion and to delineate the breakpoints., (© 2015 S. Karger AG, Basel.)
- Published
- 2015
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29. Parent and teacher perspectives about problem behavior in children with Williams syndrome.
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Klein-Tasman BP, Lira EN, Li-Barber KT, Gallo FJ, and Brei NG
- Subjects
- Adolescent, Child, Child Behavior Disorders epidemiology, Comorbidity, Faculty, Female, Humans, Male, Parents, Williams Syndrome epidemiology, Child Behavior Disorders physiopathology, Williams Syndrome physiopathology
- Abstract
Problem behavior of 52 children with Williams syndrome ages 6 to 17 years old was examined based on both parent and teacher report. Generally good inter-rater agreement was found. Common areas of problem behavior based both on parent and teacher report included attention problems, anxiety difficulties, repetitive behaviors (e.g., obsessions, compulsions, picking nose or skin), and social problems, reflecting a robust behavioral phenotype in Williams syndrome present across contexts. Some rater differences were observed; most notably, parents reported more attention and mood difficulties than did teachers, while teachers reported more oppositionality and aggression than did parents. Relations to intellectual functioning, age, and gender were examined. The implications of the findings for understanding the behavioral phenotype associated with Williams syndrome are discussed.
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- 2015
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30. Ocular Features in 16 Brazilian Patients with Williams-Beuren Syndrome.
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Viana MM, Frasson M, Galvão H, Leão LL, Stofanko M, Gonçalves-Dornelas H, da Silva Cunha P, and Burle de Aguiar MJ
- Subjects
- Adolescent, Adult, Astigmatism diagnosis, Brazil epidemiology, Child, Child, Preschool, Elastin genetics, Eye Diseases epidemiology, Eye Diseases genetics, Female, Humans, Hyperopia diagnosis, In Situ Hybridization, Fluorescence, Iris Diseases diagnosis, Lim Kinases genetics, Loss of Heterozygosity, Male, Microsatellite Repeats, Polymerase Chain Reaction, Real-Time Polymerase Chain Reaction, Retinal Vessels pathology, Strabismus diagnosis, Williams Syndrome epidemiology, Williams Syndrome genetics, Eye Diseases diagnosis, Williams Syndrome diagnosis
- Abstract
Objectives: Williams-Beuren Syndrome (WBS) is a multisystem disorder caused by the deletion of contiguous genes on chromosome 7q11.23. Ophthalmologic abnormalities and deficits in visual motor integration are important features of WBS. Here we describe our experience with Brazilian WBS patients and their ophthalmologic features., Methods: Sixteen patients with confirmed WBS went through thorough ophthalmologic examination., Results: The most frequent ocular findings in our group of patients were stellate iris pattern (81.2%), hyperopic astigmatism (50%), hyperopia (37.5%), tortuosity of retinal vessel (37.5%) and strabismus (18.7%)., Conclusions: This is the second report of ophthalmologic abnormalities in a group of Brazilian individuals with WBS. It is extremely valuable that specific populations are studied so that clinical diagnosis can be refined and management of patients can be driven to the most common presentations of the disease.
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- 2015
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31. Cross syndrome comparison of sleep problems in children with Down syndrome and Williams syndrome.
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Ashworth A, Hill CM, Karmiloff-Smith A, and Dimitriou D
- Subjects
- Actigraphy, Anxiety epidemiology, Bruxism epidemiology, Child, Developmental Disabilities epidemiology, Female, Humans, Male, Nocturnal Enuresis epidemiology, Pain epidemiology, Risk Assessment, Risk Factors, Sleep, Sleep Apnea Syndromes epidemiology, Surveys and Questionnaires, Down Syndrome epidemiology, Sleep Wake Disorders epidemiology, Williams Syndrome epidemiology
- Abstract
Based on previous findings of frequent sleep problems in children with Down syndrome (DS) and Williams syndrome (WS), the present study aimed to expand our knowledge by using parent report and actigraphy to define sleep problems more precisely in these groups. Twenty-two school-aged children with DS, 24 with WS and 52 typically developing (TD) children took part in the study. Each child wore an actiwatch for a minimum of four nights and parents completed the Children's Sleep Habits Questionnaire (CSHQ). Sleep problems were common in both developmental disorders. Children with DS had the greatest sleep disruption, with frequent and longer night wakings as well as restlessness. Parents reported symptoms of sleep-disordered breathing and a range of other problems including grinding teeth, bedtime resistance and sleep anxiety. Children with WS had problems initiating sleep and parents also reported bed-wetting and body pain. Despite these problems, the mean actual sleep time, as measured by actigraphy, did not differ between the three groups. CSHQ reports were in agreement with actigraphy for children's sleep duration, but this was not the case for sleep latency, restlessness and the night wakings variables. Sleep problems in DS and WS are common and appear to be syndrome-specific. Due to the inaccuracy of parent report, it is recommended that children at risk undergo objective measures of sleep assessment., (Copyright © 2013 Elsevier Ltd. All rights reserved.)
- Published
- 2013
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32. Caregiver survey of pharmacotherapy to treat attention deficit/hyperactivity disorder in individuals with Williams syndrome.
- Author
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Martens MA, Seyfer DL, Andridge RR, Foster JE, McClure KE, and Coury DL
- Subjects
- Adolescent, Amphetamines adverse effects, Aortic Stenosis, Subvalvular epidemiology, Attention Deficit Disorder with Hyperactivity epidemiology, Caregivers, Central Nervous System Stimulants adverse effects, Child, Child, Preschool, Data Collection, Female, Humans, Hypertension epidemiology, Incidence, Infant, Male, Mental Disorders epidemiology, Methylphenidate adverse effects, Prevalence, Pulmonary Valve Stenosis epidemiology, Williams Syndrome epidemiology, Young Adult, Amphetamines administration & dosage, Attention Deficit Disorder with Hyperactivity drug therapy, Central Nervous System Stimulants administration & dosage, Methylphenidate administration & dosage, Williams Syndrome drug therapy
- Abstract
Williams syndrome (WS) is a genetic condition characterized by a unique neurocognitive and behavioral profile, including increased incidence of attention deficit/hyperactivity disorder (ADHD). The purpose of the present study was to examine the perceived helpfulness and side effects of medications used to treat ADHD (methylphenidate class, amphetamine class, atomoxetine) in individuals with WS. This was accomplished with a survey of parents/caregivers of individuals with WS through the Williams Syndrome Association. Five-hundred twelve (512) parents/caregivers responded to the survey regarding their child's/adult child's use of ADHD medications. Twenty-seven percent (27%) of the individuals had been prescribed a medication for ADHD, most commonly a methylphenidate class medication. OROS-methylphenidate was reported as the most helpful methylphenidate class formulation, with 74% reporting it at least somewhat helpful. Survey participants reported similar side effects as typically developing controls, but to a greater degree. Irritability was the most commonly endorsed side effect of an ADHD medication (38%). Individuals reported use of stimulant medications in the presence and absence of underlying cardiac conditions, with 56% of ADHD medication users reporting supravalvular aortic stenosis, 36% pulmonary artery stenosis, and 25% systemic hypertension. Individuals taking ADHD medications were more likely to report dental problems (p=0.004). Additional studies are needed to further investigate these findings and examine short-versus long-acting stimulant medications and dosage effects., (Copyright © 2013 Elsevier Ltd. All rights reserved.)
- Published
- 2013
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33. Cardiovascular abnormalities in Williams syndrome: 20 years'experience in Istanbul.
- Author
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Ergul Y, Nisli K, Kayserili H, Karaman B, Basaran S, Koca B, Aydogan U, Omeroglu RE, and Dindar A
- Subjects
- Adolescent, Cardiovascular Abnormalities epidemiology, Cardiovascular Abnormalities genetics, Child, Child, Preschool, Female, Follow-Up Studies, Genetic Techniques, Humans, Incidence, Infant, Male, Retrospective Studies, Turkey epidemiology, Williams Syndrome epidemiology, Williams Syndrome genetics, Cardiovascular Abnormalities diagnosis, Diagnostic Techniques, Cardiovascular, Williams Syndrome diagnosis
- Abstract
Aims: Williams syndrome (WS) is a microdeletion syndrome affecting cardiovascular and connective tissue as well as the endocrine and central nervous systems in 1 in 10,000 live births. This study aims to identify and evaluate cardiovascular abnormalities (CVAs) in 45 WS patients., Patients and Methods: We retrospectively reviewed a cohort of WS patients who were followed at our institution from January 1, 1990 through December 31, 2010. WS was clinically diagnosed by an experienced medical geneticist and confimed by fluorescence in situ hybridization. CVAs were assessed using electrocardiography, echocardiography or cardiac catheterization., Results: Twenty-seven patients (60%) were male; 18 were female (40%).The mean age at presentation was 4.6 +/- 3.1 years (3 months-13 years); the follow-up period was 6.9 +/- 4.4 years (6 months-18 years). CVAs were found in 86% of patients, the most common one being supravalvar aortic stenosis (SVAS) in 73% (isolated in 48%), peripheral pulmonary artery stenosis (PAS) in 42%, and mitral valve prolapse (MVP) in 22%. Less common were aortic insufficiency (15%), ventricular septal defect (11%), valvular pulmonary stenosis (11%), and aortic arch hypoplasia (8%) and coarctation (2%). Hypertension was present in 22% of patients. Surgical or catheter-based interventions were performed in 22% of cases. Two patients were lost in the postoperative period., Conclusion: CVAs were found in more than four out of five patients, the most common ones being SVAS and PAS. Although surgery was performed in more patients with SVAS than with PAS, SVAS was minimal or mild in most patients and improved in few cases.
- Published
- 2012
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34. [Diagnostic delay of rare diseases in Europe and in Hungary].
- Author
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Földvári A, Szy I, Sándor J, Pogány G, and Kosztolányi G
- Subjects
- Adolescent, Adult, Aged, Aged, 80 and over, Child, Child, Preschool, Cystic Fibrosis diagnosis, Cystic Fibrosis epidemiology, Europe epidemiology, Female, Humans, Hungary epidemiology, Infant, Male, Middle Aged, Muscular Dystrophy, Duchenne diagnosis, Muscular Dystrophy, Duchenne epidemiology, Retinitis Pigmentosa diagnosis, Retinitis Pigmentosa epidemiology, Surveys and Questionnaires, Tuberous Sclerosis diagnosis, Tuberous Sclerosis epidemiology, Williams Syndrome diagnosis, Williams Syndrome epidemiology, Young Adult, Delayed Diagnosis statistics & numerical data, Diagnostic Errors statistics & numerical data, Rare Diseases diagnosis, Rare Diseases epidemiology
- Abstract
Unlabelled: The long diagnostic delay is a characteristic problem of rare disease patients., Aims: Diagnostic delay was studied in 14 countries by EurordisCare2 involving patient organizations., Methods: 252 Hungarian patients (cystic fibrosis; Duchenne muscular dystrophy; tuberous sclerosis, retinitis pigmentosa, and Williams' syndrome) completed the questionnaires., Results: The median delay was longer in Hungary than in Europe (cystic fibrosis: 227 vs. 45 days; Duchenne muscular dystrophy: 467 vs. 360 days; tuberous sclerosis: 155 vs. 120 days). Patients' experience was similar in Hungary and in Europe. The proportion of misdiagnosis was 30.8% in Hungary (Europe: 41%), 34.8% of patients got diagnosis outside of living place region (EU: 26%) and 19.9% of them found the personal expenses too high (EU: 10%). Delivery of the diagnosis was unnecessary according to 27.4% of Hungarian patients (EU: 35%)., Conclusions: The qualitative survey demonstrated that the problems with the diagnosis of rare diseases are widespread, the identified areas require interventions, and it confirmed the importance of centralized care.
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- 2012
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35. Longitudinal assessment of intellectual abilities of children with Williams syndrome: multilevel modeling of performance on the Kaufman Brief Intelligence Test-Second Edition.
- Author
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Mervis CB, Kistler DJ, John AE, and Morris CA
- Subjects
- Adolescent, Child, Child, Preschool, Female, Humans, Intellectual Disability psychology, Longitudinal Studies, Male, Nonverbal Communication, Predictive Value of Tests, Verbal Learning, Williams Syndrome psychology, Intellectual Disability diagnosis, Intellectual Disability epidemiology, Intelligence Tests statistics & numerical data, Models, Psychological, Williams Syndrome diagnosis, Williams Syndrome epidemiology
- Abstract
Multilevel modeling was used to address the longitudinal stability of standard scores (SSs) measuring intellectual ability for children with Williams syndrome (WS). Participants were 40 children with genetically confirmed WS who completed the Kaufman Brief Intelligence Test-Second Edition (KBIT-2; A. S. Kaufman & N. L. Kaufman, 2004 ) 4-7 times over a mean of 5.06 years. Mean age at first assessment was 7.44 years (range = 4.00-13.97 years). On average, KBIT-2 Composite IQ, Verbal SS, and Nonverbal SS were stable from 4 to 17 years, although there were significant individual differences in intercept (Composite IQ, Verbal SS, Nonverbal SS) and slope (Composite IQ, Nonverbal SS). Maternal education was significantly related to Verbal SS intercept. No significant sex differences were found. Implications for studies of genotype/phenotype correlations in WS are discussed.
- Published
- 2012
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36. Developmental trajectories in syndromes with intellectual disability, with a focus on Wolf-Hirschhorn and its cognitive-behavioral profile.
- Author
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Fisch GS, Carpenter N, Howard-Peebles PN, Holden JJ, Tarleton J, Simensen R, and Battaglia A
- Subjects
- Adaptation, Psychological physiology, Adolescent, Child, Child Behavior physiology, Child, Preschool, Cognition physiology, Female, Fragile X Syndrome epidemiology, Fragile X Syndrome genetics, Fragile X Syndrome physiopathology, Genotype, Humans, Intellectual Disability genetics, Linear Models, Longitudinal Studies, Male, Neuropsychological Tests, Williams Syndrome epidemiology, Williams Syndrome genetics, Williams Syndrome physiopathology, Wolf-Hirschhorn Syndrome genetics, Young Adult, Child Development physiology, Intellectual Disability epidemiology, Intellectual Disability physiopathology, Wolf-Hirschhorn Syndrome epidemiology, Wolf-Hirschhorn Syndrome physiopathology
- Abstract
Few studies exist of developmental trajectories in children with intellectual disability, and none for those with subtelomeric deletions. We compared developmental trajectories of children with Wolf-Hirschhorn syndrome to other genetic disorders. We recruited 106 children diagnosed with fragile X, Williams-Beuren syndrome, or Wolf-Hirschhorn syndrome, assessing their intellectual and adaptive behavior abilities. We retested 61 children 2 years later. We compared Time 1 and Time 2 difference scores related to genetic disorder, age, initial IQ, or adaptive behavior composite. Results show genetic disorder and initial IQ score were significant factors for IQ differences, but only genetic disorder affected adaptive behavior differences. Results suggest different gene-brain-behavior pathways likely exist for these genetic disorders. Different developmental trajectories will influence the type and intensity of intervention implemented by caregivers.
- Published
- 2012
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37. Cryptic chromosomal rearrangements in children with idiopathic mental retardation in the Czech population.
- Author
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Hirschfeldova K, Baxova A, Kebrdlova V, Solc R, Mihalova R, Lnenicka P, Vesela K, and Stekrova J
- Subjects
- Adolescent, Child, Child, Preschool, Chromosome Deletion, Chromosome Disorders epidemiology, Chromosome Disorders genetics, Chromosomes, Human, Pair 1 genetics, Chromosomes, Human, Pair 7, Cohort Studies, Czech Republic epidemiology, Female, Genetics, Population, Humans, Infant, Male, Prader-Willi Syndrome epidemiology, Prader-Willi Syndrome genetics, Williams Syndrome epidemiology, Williams Syndrome genetics, Chromosome Aberrations statistics & numerical data, Intellectual Disability epidemiology, Intellectual Disability genetics
- Abstract
Aims: The aim of our study was to scan for cryptic rearrangements using the multiplex ligation probe amplification method in a cohort of 64 probands with mental retardation or developmental delays in combination with at least one of the following symptoms: hypotonia after birth, congenital anomalies, or face dysmorphisms; but without a positive cytogenetic finding. The study contributes to the knowledge of microdeletion syndromes and helps disclose their natural phenotypic variability., Results: In total, 10 positives (16%) were detected, particularly 3 duplications (Xpter-p22.32; 17p11.2; 22q11) and 6 different deletions (1p36; 7q11.23; 10p15; 15q11-q13; 17p11.2; 17p13.3), 1 of these in 2 probands. Besides the well-characterized syndromes, less-often described rearrangements with ambiguous phenotype associations were also detected., Conclusions: Some rearrangements, particularly duplications, are associated with vague phenotypes; and their frequency could be underestimated.
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- 2011
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38. A comparative study of hearing loss in two microdeletion syndromes: velocardiofacial (22q11.2 deletion) and Williams (7q11.23 deletion) syndromes.
- Author
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Zarchi O, Attias J, Raveh E, Basel-Vanagaite L, Saporta L, and Gothelf D
- Subjects
- Analysis of Variance, Audiometry, Pure-Tone, Auditory Threshold, Case-Control Studies, Child, Child, Preschool, Chromosome Deletion, Chromosomes, Human, Pair 22, DiGeorge Syndrome diagnosis, DiGeorge Syndrome epidemiology, Female, Follow-Up Studies, Hearing Loss diagnosis, Hearing Loss epidemiology, Hearing Loss, Conductive diagnosis, Hearing Loss, Conductive epidemiology, Hearing Loss, Conductive genetics, Hearing Loss, Sensorineural diagnosis, Hearing Loss, Sensorineural epidemiology, Hearing Loss, Sensorineural genetics, Humans, Incidence, Infant, Male, Severity of Illness Index, Williams Syndrome diagnosis, Williams Syndrome epidemiology, Chromosomes, Human, Pair 7 genetics, DiGeorge Syndrome genetics, Hearing Loss genetics, Williams Syndrome genetics
- Abstract
Objective: To comprehensively assess auditory impairments in velocardiofacial syndrome (VCFS) and Williams syndrome (WS)., Study Design: Audiologic measurements were conducted with 62 subjects with VCFS and 44 subjects with WS, as well as two control groups consisting of 22 subjects with idiopathic developmental disability and 23 typically developing controls. An association between severity of hearing loss in VCFS and the (158)Val/Met polymorphism of the catechol-O-methyltransferase gene (COMT) was explored., Results: Hearing was significantly more impaired in the VCFS and WS groups compared with the developmental disability and typically developing groups. Audiologic abnormalities identified in both the VCFS and WS groups included high-tone hearing loss (predominantly sensorineural or mixed type), loss of acoustic reflex, and middle ear pathologies. In both the VCFS and WS groups, hearing loss severity was positively correlated with age. In the VCFS group, hearing loss was more severe in the subgroup carrying the COMT Val allele compared with the subgroup carrying the COMT Met allele., Conclusions: Hearing impairments, including sensorineural hearing loss and acoustic reflex dysfunction, are very common in both VCFS and WS. Hearing loss is less severe in subjects with the COMT Met allele, possibly due to the protective effect of dopamine on the hearing system., (Copyright © 2011 Mosby, Inc. All rights reserved.)
- Published
- 2011
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39. Characterisation of sleep problems in children with Williams syndrome.
- Author
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Annaz D, Hill CM, Ashworth A, Holley S, and Karmiloff-Smith A
- Subjects
- Anxiety Disorders epidemiology, Child, Female, Health Status, Humans, Male, Prevalence, Surveys and Questionnaires, Child Behavior, Nocturnal Enuresis epidemiology, Sleep Stages, Sleep Wake Disorders epidemiology, Williams Syndrome epidemiology
- Abstract
Sleep is critical to optimal daytime functioning, learning and general health. In children with established developmental disorders sleep difficulties may compound existing learning difficulties. The purpose of the present study was to evaluate the prevalence and syndrome specificity of sleep problems in Williams syndrome (WS), a neurodevelopmental disorder affecting around 1 in 20,000 live births. Parents of 64 children with WS, aged 6-12 years, and 92 age matched healthy controls were surveyed about their child's sleep habits. The Child Sleep Habits Questionnaire, general health and background information were collected from the parents. Ninety seven percent of parents reported that their children had sleep problems and reported a high prevalence of sleep difficulties: greater bedtime resistance, sleep anxiety, night waking and daytime sleepiness. This is the first study to our knowledge to survey sleep problems in a large cohort of school age children with WS. Sleep problems in children with learning difficulties are often amendable to treatment if diagnosed early. Furthermore the negative impact of sleep disturbances on daytime behaviour and learning should be measured before diagnoses of behaviourally defined disorders are considered., (Copyright © 2010 Elsevier Ltd. All rights reserved.)
- Published
- 2011
- Full Text
- View/download PDF
40. Stenosis of the thoracic aorta in Williams syndrome.
- Author
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Collins RT 2nd, Kaplan P, and Rome JJ
- Subjects
- Adolescent, Angiography, Aortic Diseases diagnosis, Aortic Diseases epidemiology, Cardiac Catheterization, Child, Child, Preschool, Constriction, Pathologic, Echocardiography, Female, Follow-Up Studies, Humans, Infant, Infant, Newborn, Male, Pennsylvania epidemiology, Prevalence, Prognosis, Retrospective Studies, Time Factors, Williams Syndrome diagnosis, Williams Syndrome epidemiology, Young Adult, Aorta, Thoracic, Aortic Diseases etiology, Williams Syndrome complications
- Abstract
Williams syndrome (WS) is a multisystem congenital disorder affecting 1/8000 live births. Our objective was to review our experience with stenosis of the thoracic aorta (STA) in these patients. A retrospective review was undertaken of consecutive WS patients at The Children's Hospital of Philadelphia from January 1, 1980, through December 31, 2007. WS was diagnosed by an experienced medical geneticist and/or by fluorescence in situ hybridization. Stenosis was diagnosed with either echocardiography or cardiac catheterization. Freedom from intervention was determined using Kaplan-Meier analysis. From a total cohort of 270 patients, 37 (14%) patients with STA were identified and comprised the study group. Age at presentation was 2.1 + or - 4.0 years, and follow-up was 11.8 + or - 12.6 years (range 0-51). Long-segment STA was more common (89%) than discrete STA. Severity of STA was mild in 18, moderate in 10, and severe in 9 patients. Branch pulmonary artery stenosis was seen in 62% (23 of 37) of STA patients, and supravalvar aortic stenosis was seen in 54% (20 of 37) STA patients. Nine (24%) patients underwent intervention for STA: 8 cases were severe, and 1 case was moderate. Restenosis resulting in reintervention occurred in 5 of 9 (56%) patients, with 4 of 5 (80%) patients undergoing multiple reinterventions. Freedom from intervention was 89, 82, and 73% at 1, 5, and 20 years, respectively. One patient died. STA is common in WS and is generally the long-segment type. In patients with STA, interventions are common and usually occur by 5 years of age. Reintervention for STA occurs frequently.
- Published
- 2010
- Full Text
- View/download PDF
41. High prevalence of diabetes and pre-diabetes in adults with Williams syndrome.
- Author
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Pober BR, Wang E, Caprio S, Petersen KF, Brandt C, Stanley T, Osborne LR, Dzuria J, and Gulanski B
- Subjects
- Adult, Blood Glucose metabolism, Case-Control Studies, Cohort Studies, Female, Humans, Insulin blood, Male, Prediabetic State blood, Prevalence, Sex Characteristics, United States, Williams Syndrome blood, Prediabetic State complications, Prediabetic State epidemiology, Williams Syndrome complications, Williams Syndrome epidemiology
- Abstract
A standard oral glucose tolerance test (OGTT) was administered to 28 adults with Williams syndrome (WS). Three quarters of the WS subjects showed abnormal glucose curves, meeting diagnostic criteria for either diabetes or the pre-diabetic state of impaired glucose tolerance. Fasting mean glucose and median insulin levels did not differ significantly in the total WS cohort versus age-gender-BMI matched controls, though the glucose area under the curve was greater in the WS subjects. HbA1c levels were not as reliable as the OGTT in diagnosing the presence of diabetes. Given the high prevalence of impaired glucose regulation, adults with WS should be screened for diabetes, and when present should be treated in accordance with standard medical practice. Hemizygosity for a gene mapping to the Williams syndrome chromosome region (WSCR) is likely the major factor responsible for the high frequency of diabetes in WS. Syntaxin-1A is a prime candidate gene based on its location in the WSCR, its role in insulin release, and the presence of abnormal glucose metabolism in mouse models with aberrantly expressed Stx-1a.
- Published
- 2010
- Full Text
- View/download PDF
42. Psychiatric features in children with genetic syndromes: toward functional phenotypes.
- Author
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Siegel MS and Smith WE
- Subjects
- Angelman Syndrome epidemiology, Angelman Syndrome genetics, Attention Deficit Disorder with Hyperactivity epidemiology, Child, Cognition Disorders epidemiology, Fragile X Mental Retardation Protein genetics, Fragile X Syndrome epidemiology, Fragile X Syndrome genetics, Health Status, Humans, Mental Disorders epidemiology, Methyl-CpG-Binding Protein 2 genetics, Point Mutation genetics, Polymerase Chain Reaction, Prader-Willi Syndrome epidemiology, Prader-Willi Syndrome genetics, Rett Syndrome epidemiology, Williams Syndrome epidemiology, Williams Syndrome genetics, Down Syndrome genetics, Mental Disorders genetics, Phenotype, Rett Syndrome genetics
- Abstract
Neurodevelopmental disorders with identified genetic etiologies present a unique opportunity to study gene-brain-behavior connections in child psychiatry. Parsing complex human behavior into dissociable components is facilitated by examining a relatively homogenous genetic population. As children with developmental delay carry a greater burden of mental illness than the general population, familiarity with the most common genetic disorders will serve practitioners seeing a general child population. In this article basic genetic testing and 11 of the most common genetic disorders are reviewed, including the evidence base for treatment. Based on their training in child development, family systems, and multimodal treatment, child psychiatrists are well positioned to integrate cognitive, behavioral, social, psychiatric, and physical phenotypes, with a focus on functional impairment., (Copyright 2010 Elsevier Inc. All rights reserved.)
- Published
- 2010
- Full Text
- View/download PDF
43. Executive neuropsychological functioning in individuals with Williams syndrome.
- Author
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Rhodes SM, Riby DM, Park J, Fraser E, and Campbell LE
- Subjects
- Adolescent, Female, Frontal Lobe physiopathology, Humans, Male, Memory Disorders diagnosis, Memory Disorders epidemiology, Memory, Short-Term, Neuropsychological Tests, Observer Variation, Severity of Illness Index, Surveys and Questionnaires, Williams Syndrome physiopathology, Cognition Disorders diagnosis, Cognition Disorders epidemiology, Williams Syndrome epidemiology
- Abstract
The present study investigated executive neuropsychological functioning in individuals with the neuro-developmental disorder Williams syndrome (WS) using a set of validated standardized neuropsychological tasks. Relatively few studies have examined frontal lobe related executive functions within the cognitive phenotype associated with the disorder. The present study compared participants with WS to typically developing participants who were individually matched for (1) chronological age and (2) verbal mental age (N=19 each group) on tasks of attention-set shifting, planning and working memory from the Cambridge Neuropsychological Test Automated Battery (CANTAB). To address the specificity of executive function impairment, non-executive tasks of delayed short-term memory and short-term memory span were also administered. Individuals with WS (mean age 18 years) showed impaired executive functioning on tasks of attention set-shifting, working memory, and planning. Non-executive deficits were also observed in short-term delayed memory and memory span. Neuropsychological impairments were correlated with a range of behavioural problems assessed using parent-rated Questionnaires. Overall, these findings point to the role of a range of executive function impairments in WS but further suggest that cognitive impairments extend beyond executive dysfunction., ((c) 2010 Elsevier Ltd. All rights reserved.)
- Published
- 2010
- Full Text
- View/download PDF
44. Health and social outcomes in adults with Williams syndrome: findings from cross-sectional and longitudinal cohorts.
- Author
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Elison S, Stinton C, and Howlin P
- Subjects
- Adult, Cohort Studies, Cross-Sectional Studies, Educational Status, Employment statistics & numerical data, Female, Friends, Humans, Independent Living statistics & numerical data, Intelligence, Leisure Activities, Longitudinal Studies, Male, Middle Aged, Residential Facilities statistics & numerical data, Self Care statistics & numerical data, Social Behavior Disorders epidemiology, Social Behavior Disorders physiopathology, Social Behavior Disorders psychology, Young Adult, Aging, Health Status, Social Adjustment, Williams Syndrome epidemiology, Williams Syndrome physiopathology, Williams Syndrome psychology
- Abstract
Previous studies have investigated trajectories of cognitive, language and adaptive functioning in Williams syndrome (WS) but little is known about how other aspects of the Williams syndrome behavioural phenotype change across the life-span. Therefore, the present study examined age associated changes in a number of different domains of functioning in adults with WS. Semi-structured interviews and standardized assessments of physical health, educational and occupational levels, self-care and independence, social interactions, and behavioural difficulties were conducted with adults with WS and their parents/carers. Ninety-two individuals with genetic confirmation of WS (50 males, 42 females) participated in a cross-sectional study (age range 19-55 years; mean 32 years) and 43 individuals (21 males, 22 females) were involved in a longitudinal study as they had taken part in a previous study of adults with WS. Not all individuals in the longitudinal cohort had genetically confirmed WS. Cross-sectional analyses revealed no age related differences in the areas of functioning investigated. However, in the longitudinal sample, significant improvements were reported in physical health, self-care and occupational skills. Social skills and adaptive behaviours had generally improved while behavioural difficulties had declined. In both cross-sectional and longitudinal cohorts there were significant correlations between adaptive functioning and IQ. These findings are consistent in indicating no age related decline in social or adaptive functioning in adults with WS, at least up to the age of 50-55 years., (Copyright 2009 Elsevier Ltd. All rights reserved.)
- Published
- 2010
- Full Text
- View/download PDF
45. Cardiovascular abnormalities, interventions, and long-term outcomes in infantile Williams syndrome.
- Author
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Collins RT 2nd, Kaplan P, Somes GW, and Rome JJ
- Subjects
- Angioplasty, Balloon, Aortic Stenosis, Supravalvular epidemiology, Aortic Stenosis, Supravalvular surgery, Cardiovascular Abnormalities surgery, Female, Humans, Infant, Infant, Newborn, Kaplan-Meier Estimate, Male, Prevalence, Prognosis, Proportional Hazards Models, Pulmonary Artery abnormalities, Pulmonary Artery surgery, Retrospective Studies, Stents, Treatment Outcome, United States epidemiology, Williams Syndrome surgery, Cardiovascular Abnormalities epidemiology, Cardiovascular Abnormalities therapy, Williams Syndrome epidemiology, Williams Syndrome therapy
- Abstract
Objective: To determine the prevalence of cardiovascular abnormalities (CVA) and outcomes in patients with Williams syndrome presenting before 1 year of age., Study Design: A retrospective review was undertaken of consecutive patients with WS at our institution from January 1, 1980, through December 31, 2007. WS was diagnosed by an experienced medical geneticist and/or by fluorescence in situ hybridization. CVA were diagnosed with the use of echocardiography, cardiac catheterization, or computerized tomographic angiography. Freedom from intervention was determined using Kaplan-Meier analysis., Results: The study group was 129 patients with CVA. Age at presentation was 127 +/- 116 days, with follow-up of 8.0 +/- 7.5 years (0 to 42 years). The most common lesions were peripheral pulmonary artery stenosis (62%) and supravalvar aortic stenosis (57%). Other CVA were common. CV interventions were performed in 29%, with 58% of those before 1 year. Freedom from intervention was 85%, 73%, and 66% at 1, 5, and 25 years, respectively. Four patients died., Conclusions: CVA are the most common manifestations of infantile Williams syndrome and occur with greater frequency than previously reported. In those with CVA, interventions are common and usually occur by 5 years of age. Most of these patients do not require intervention on long-term follow-up, and overall mortality is low., (Copyright 2010 Mosby, Inc. All rights reserved.)
- Published
- 2010
- Full Text
- View/download PDF
46. Mental health problems in adults with Williams syndrome.
- Author
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Stinton C, Elison S, and Howlin P
- Subjects
- Adult, Agoraphobia diagnosis, Agoraphobia epidemiology, Anxiety Disorders diagnosis, Anxiety Disorders epidemiology, Comorbidity, Cross-Sectional Studies, Depressive Disorder diagnosis, Depressive Disorder epidemiology, Female, Humans, Intelligence, Male, Mental Disorders psychology, Middle Aged, Personality Assessment statistics & numerical data, Phobic Disorders diagnosis, Phobic Disorders epidemiology, Psychometrics, United Kingdom, Williams Syndrome psychology, Young Adult, Mental Disorders diagnosis, Mental Disorders epidemiology, Williams Syndrome diagnosis, Williams Syndrome epidemiology
- Abstract
Although many researchers have investigated emotional and behavioral difficulties in individuals with Williams syndrome, few have used standardized diagnostic assessments. We examined mental health problems in 92 adults with Williams syndrome using the Psychiatric Assessment Schedule for Adults with Developmental Disabilities-PAS-ADD (Moss, Goldberg, et al., 1996). Factors potentially associated with mental health problems were also explored. The PAS-ADD identified mental health problems in 24% of the sample. The most common were anxiety (16.5%) and specific phobias (12%). Other diagnoses included depression, agoraphobia, and social phobia. No association was found between the presence of mental health problems and either individual (e.g., age, IQ, language level) or external (life events) variables.
- Published
- 2010
- Full Text
- View/download PDF
47. New findings concerning cardiovascular manifestations emerging from long-term follow-up of 150 patients with the Williams-Beuren-Beuren syndrome.
- Author
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Del Pasqua A, Rinelli G, Toscano A, Iacobelli R, Digilio C, Marino B, Saffirio C, Mondillo S, Pasquini L, Sanders SP, and de Zorzi A
- Subjects
- Adolescent, Adult, Cardiac Catheterization, Cardiovascular Diseases epidemiology, Cardiovascular Diseases surgery, Child, Child, Preschool, Female, Follow-Up Studies, Humans, Infant, Italy epidemiology, Male, Middle Aged, Prevalence, Retrospective Studies, Williams Syndrome epidemiology, Williams Syndrome surgery, Cardiovascular Diseases physiopathology, Williams Syndrome physiopathology
- Abstract
Aims: We investigated the prevalence, type, and course of congenital cardiac defects and systemic hypertension in our patients with Williams-Beuren-Beuren syndrome., Methods and Results: We reviewed the clinical records of all patients with Williams-Beuren syndrome examined between 1981 and 2006. We identified 150 patients, aged from 7 months to 45 years, with a follow-up from 6 months to 25 years, the mean being 6.4 years. A cardiac anomaly was present in 113 of the 150 patients (75%). Defects were typical in over four-fifths of the group. We found supravalvar aortic stenosis in 73 of 113 patients (64.6%), isolated in 43. Pulmonary stenosis, isolated in 18 cases, was found in 51 of 113 (45.1%), while aortic coarctation and mitral valvar prolapse were each found in 7 (6.2%), 3 of the lesions is isolation. Atypical defects were found in 19 patients, tetralogy of Fallot in 2, atrial septal defects in 4, aortic and mitral valvar insufficiencies in 1 each, bicuspid aortic valves in 2, and ventricular septal defects in 9, 4 of the last being isolated. Systemic hypertension, observed in 33 patients (22%), was poorly controlled in 10. Diagnostic and/or interventional cardiac catheterization was undertaken in 24 patients, with 30 surgical procedures performed in 26 patients. Of the group, 3 patients died., Conclusion: Cardiac defects were present in three-quarters of our patients. Pulmonary arterial lesions generally improved, while supravalvar aortic stenosis often progressed. Atypical cardiac malformations, particularly ventricular septal defects, occurred frequently. Systemic hypertension was found in one-fifth, even in the absence of structural cardiac defects. The short-term mortality was low.
- Published
- 2009
- Full Text
- View/download PDF
48. Occurrence of anaplastic oligodendroglioma in a patient with Williams syndrome: a case report with analysis of mutational profile of tumor.
- Author
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Omalu BI and Nnebe-Agumadu UH
- Subjects
- Adult, Comorbidity, DNA Mutational Analysis, Humans, Loss of Heterozygosity, Male, Neurologic Examination, Oligodendroglioma genetics, Brain Neoplasms epidemiology, Oligodendroglioma epidemiology, Parietal Lobe, Williams Syndrome epidemiology
- Abstract
Williams syndrome is a rare congenital developmental disorder characterized by a constellation of distinctive facial dysmorphisms, mental retardation, cardiovascular anomalies, infantile hypercalcemia, delayed developmental milestones, dental and musculoskeletal anomalies and distinctive personality traits. A majority of patients with Williams syndrome exhibit a hemizygous micro-deletion of chromosome 7q11.23, which is the locus of some 20-30 genes including the ELN gene that encodes the structural protein elastin. Chromosome 7q contains putative tumor suppressor genes and is one of the chromosomes that are frequently involved in chromosomal aberrations in human malignancies. A paucity of tumors (three) has been reported in the literature to occur in patients with Williams syndrome. We report a case of anaplastic oligodendroglioma that occurred in a 31-year-old man with Williams syndrome. Mutational profiling by loss of heterozygosity analysis using a panel of polymorphic micro-satellite markers indicated combined deletion of chromosome 1p and 19q. We draw attention to this apparently rare or possibly under-reported occurrence of tumors in patients with Williams syndrome and suggest that Central Nervous System [CNS] tumors be considered as differential diagnoses in such patients when they present with unanticipated neurologic symptoms that are not attributable to those commonly associated with Williams syndrome.
- Published
- 2009
49. A cross-syndrome study of the development of holistic face recognition in children with autism, Down syndrome, and Williams syndrome.
- Author
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Annaz D, Karmiloff-Smith A, Johnson MH, and Thomas MS
- Subjects
- Child, Child, Preschool, Cognition Disorders diagnosis, Female, Humans, Male, Neuropsychological Tests, Autistic Disorder epidemiology, Cognition Disorders epidemiology, Down Syndrome epidemiology, Face, Facial Expression, Recognition, Psychology, Visual Perception, Williams Syndrome epidemiology
- Abstract
We report a cross-syndrome comparison of the development of holistic processing in face recognition in school-aged children with developmental disorders: autism, Down syndrome, and Williams syndrome. The autism group was split into two groups: one with high-functioning children and one with low-functioning children. The latter group has rarely been studied in this context. The four disorder groups were compared with typically developing children. Cross-sectional trajectory analyses were used to compare development in a modified version of Tanaka and Farah's part-whole task. Trajectories were constructed linking part-whole performance either to chronological age or to several measures of mental age (receptive vocabulary, visuospatial construction, and the Benton Facial Recognition Test). In addition to variable delays in onset and rate of development, we found an atypical profile in all disorder groups. These profiles were atypical in different ways, indicating multiple pathways to, and variable outcomes in, the development of face recognition. We discuss the implications for theories of face recognition in both atypical and typical development, including the idea that part-whole and rotation manipulations may tap different aspects of holistic and/or configural processing.
- Published
- 2009
- Full Text
- View/download PDF
50. Mathematical skills in Williams syndrome: insight into the importance of underlying representations.
- Author
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O'Hearn K and Luna B
- Subjects
- Brain physiopathology, Child, Child, Preschool, Cognition Disorders diagnosis, Female, Functional Laterality physiology, Humans, Language, Male, Neuropsychological Tests, Parietal Lobe physiopathology, Severity of Illness Index, Verbal Behavior, Williams Syndrome physiopathology, Cognition Disorders epidemiology, Mathematics, Williams Syndrome epidemiology
- Abstract
Williams syndrome (WS) is a developmental disorder characterized by relatively spared verbal skills and severe visuospatial deficits. Serious impairments in mathematics have also been reported. This article reviews the evidence on mathematical ability in WS, focusing on the integrity and developmental path of two fundamental representations, namely those that support judgments of "how much" (i.e., magnitude) and "how many" (i.e., number of objects). Studies on magnitude or "number line" representation in WS suggest that this core aspect of mathematical ability, is atypical in WS throughout development, causing differences on some but not all aspects of math. Studies on the representation of small numbers of objects in WS are also reviewed, given the proposed links between this type of representation and early number skills such as counting. In WS, representation appears to be relatively typical in infancy but limitations become evident by maturity, suggesting a truncated developmental trajectory. The math deficits in WS are consistent with neurological data indicating decreased gray matter and hypoactivation in parietal areas in WS, as these areas are implicated in mathematical processing as well as visuospatial abilities and visual attention. In spite of their deficits in core mathematical representations, people with WS can learn many mathematical skills and show some strengths, such as reading numbers. Thus individuals with WS may be able to take advantage of their relatively strong verbal skills when learning some mathematical tasks. The uneven mathematical abilities found in persons with WS provide insight into not only appropriate remediation for this developmental disorder but also into the precursors of mathematical ability, their neural substrates, and their developmental importance.
- Published
- 2009
- Full Text
- View/download PDF
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