We investigated whether individuals with Williams Syndrome (WS) produce language with a bias towards statistical properties of word combinations rather than grammatical rules, resulting in an overuse of holistically stored, familiar phrases. We analysed continuous speech samples from English children with WS (n = 12), typically developing (TD) controls matched on chronological age (n = 15) and TD controls matched on language age (n = 14). Alongside word count, utterance length, grammatical complexity, and morphosyntactic errors, we measured familiarity of expressions by computing collocation strength of each word combination. The WS group produced stronger collocations than both control groups. Moreover, the WS group produced fewer complex sentences, shorter utterances, and more frequent function words than chronological-age matched controls. Language in WS may appear more typical than it is because familiar, holistically processed expressions mask grammatical and other difficulties.

Williams syndrome (WS) is a rare genetic disorder, characterised at the cognitive level by a phenotypic pattern of relative weaknesses (e.g., visuospatial skills) and strengths (e.g., some linguistic and nonverbal reasoning skills). In this study, we performed a systematic search and meta-analysis on lexical-semantic processing in WS, an area of knowledge in which contradictory results have been obtained. We found 42 studies matching our criteria, and, in total, 78 effect sizes were included in the meta-analysis. Results showed that individuals with WS have worse lexical-semantic skills than individuals with typical development, whether matched by chronological or mental age. However, people with WS have better lexical-semantic skills than people diagnosed with other cognitive disabilities. Finally, vocabulary skills seem to be relatively spared in WS, although they present some difficulties in semantic processing/integration, semantic memory organisation and verbal working memory skills. Taken together, these results support a neuroconstructivist approach, according to which the cognitive mechanisms involved in lexical-semantic processing may be modulated, even when performance in some tasks (i.e., vocabulary tasks) might be optimal.

Comprising two parts, Ed Zigler's developmental approach has greatly influenced how one conceptualizes children with intellectual disabilities (ID). In part one, Zigler championed a “two-group approach” concerning the cause of children's ID. He distinguished persons with a clear, organic cause of their ID from those displaying no clear cause. Members of this “organic” group often displayed IQs below 50 and co-occurring physical–medical conditions. The second, “cultural–familial” group, mostly showed IQs of 50–70, did not possess co-occurring physical or health problems, and often came from families of lower IQs and lower socioeconomic status. While the presence of these two groups has been supported, recent advances have also further differentiated the organic group, mostly in relation to behavioral phenotypes of persons with several genetic etiologies. In part two, Zigler championed the child with ID as a “whole person.” Originally focused on the child's reactions to social deprivation and failure, recent studies directly examine parent–child, within-family, and wider system interactions throughout the life span. For decades a force within the ID field, Zigler's developmental approach to children with ID continues to influence researchers, interventionists, and policymakers.

Cardiovascular involvement in COVID-19 has different features. Here we report the ominous fate of a neglected adolescent with Williams syndrome that was infected by SARS-CoV-2 and ended by acute aortic dissection.

Williams syndrome is a multisystem, congenital disorder which is commonly associated with arterial stenoses: supravalvar aortic stenosis and peripheral pulmonary artery stenosis. Venous abnormalities have not been previously reported in children with Williams syndrome. We present a case of a 3-year-old girl with Williams syndrome and diffuse venous ectasia as detected by MRI.

Patients with Williams syndrome often present with abnormalities of the vascular wall of the aorta and/or the pulmonary artery. Surgery may result in restenosis of the affected vessel. Herein, we report a case of an infant with multiple recurrences of aortic coarctation successfully treated with Zotarolimus drug-eluting stent.

Individuals with Williams syndrome (WS) present prosodic impairments. They are also interested in musical activities. In typical development, a body of research has shown that the linguistic prosodic skills of musically trained individuals are enhanced. However, it is not known whether, in WS, musical training is also associated with enhanced prosodic performance, a question this study sought to answer. We compared the performance on linguistic prosodic tasks among seven musically trained and fourteen musically untrained individuals with WS, and typically developing peers. Among those with WS, musically trained participants outperformed their musically untrained counterparts on the perception of acoustic parameters involved in prosody, the understanding of questioning and declarative intonation, and the comprehension of prefinal contrastive stress. The results suggest that musical training facilitates prosodic performance in WS. Our findings also suggest common processing mechanisms for acoustic parameters involved in both prosody and music, and that positive music-to-language transfer effects could take place in WS. We discuss the implications of these results for intervention purposes.

Williams syndrome is a rare genetic disease that affects elastin production, leading to medium and large vessel stenoses and other abnormalities. Cardiac manifestations of Williams syndrome are the most life-threatening, occurring in 80% of children. Children with Williams syndrome are known to be at risk for sudden cardiac death. These tragic events are often precipitated by diagnostic or therapeutic procedures requiring anaesthesia or sedation, such as cardiac catheterisation. We present the case of a 3-month-old infant with Williams syndrome who suffered sudden cardiac arrest during cardiac catheterisation and subsequent arrest approximately 48 hours after the procedure. We also review the current literature focused on children with Williams syndrome who have suffered sudden cardiac arrest during or after cardiac catheterisation procedures.

There is evidence that individuals with Williams syndrome (WS) show an attention bias toward positive social-perceptual (happy) faces. Research has not yet considered whether this attention bias extends beyond social-perceptual stimuli to perceptually neutral stimuli that are paired with positive (trustworthy) biographical information. Fourteen participants with WS (mean age = 21 years, 1 month) learned to associate perceptually neutral faces with trustworthy (positive), neutral, or untrustworthy (negative) biographical information, before completing a dot-probe task where the same biographical faces were presented. The performance of the WS group was compared to two typically developing control groups, individually matched to the WS individuals on chronological age and mental age, respectively. No between-group bias toward untrustworthy characters was observed. The WS group displayed a selective attention bias toward trustworthy characters compared to both control groups (who did not show such a bias). Results support previous findings that indicate WS individuals show a preference for positive social-perceptual stimuli (happy faces) at the neurological, physiological, and attentional levels. The current findings extend this work to include a “top-down” positive bias. The implications of a positive bias that extends beyond social-perceptual stimuli (or “bottom-up” processes) in this syndrome are discussed.

Williams syndrome (WS) is a neurodevelopmental disorder that results from a heterozygous microdeletion on chromosome 7q11.23. Most of the time, the affected region contains ~1.5 Mb of sequence encoding approximately 24 genes. Some 5–8% of patients with WS have a deletion exceeding 1.8 Mb, thereby affecting two additional genes, including GTF2IRD2. Currently, there is no consensus regarding the implications of GTF2IRD2 loss for the neuropsychological phenotype of WS patients. Objectives: The present study aimed to identify the role of GTF2IRD2 in the cognitive, behavioral, and adaptive profile of WS patients. Methods: Twelve patients diagnosed with WS participated, four with GTF2IRD2 deletion (atypical WS group), and eight without this deletion (typical WS group). The age range of both groups was 7–18 years old. Each patient’s 7q11.23 deletion scope was determined by chromosomal microarray analysis. Cognitive, behavioral, and adaptive abilities were assessed with a battery of neuropsychological tests. Results: Compared with the typical WS group, the atypical WS patients with GTF2IRD2 deletion had more impaired visuospatial abilities and more significant behavioral problems, mainly related to the construct of social cognition. Conclusions: These findings provide new evidence regarding the influence of the GTF2IRD2 gene on the severity of behavioral symptoms of WS related to social cognition and certain visuospatial abilities. (JINS, 2018, 24, 896–904)

Artificial grammar learning is an empirical paradigm that investigates basic pattern and structural processing in different populations. It can inform how higher cognitive functions, such as language use, take place. Our study used artificial grammar learning to assess how children with Williams syndrome (WS; n = 16) extract patterns in structured sequences of synthetic speech, how they compare to typically developing (TD) children (n = 60), and how prosodic cues affect learning. The TD group was divided into a group whose nonverbal abilities were within the range of the WS group, and a group whose chronological age was within the range of the WS group. TD children relied mainly on rule-based generalization when making judgments about sequence acceptability, whereas children with WS relied on familiarity with specific stimulus combinations. The TD participants whose nonverbal abilities were similar to the WS group showed less evidence of relying on grammaticality than TD participants whose chronological age was similar to the WS group. In absence of prosodic cues, the children with WS did not demonstrate evidence of learning. Results suggest that, in WS children, the transition to rule-based processing in language does not keep pace with TD children and may be an indication of differences in neurocognitive mechanisms.

Williams syndrome is a well-recognised congenital disorder characterised by cardiovascular, connective tissue, and central nervous system abnormalities. Coronary artery abnormalities are seen in patients with supravalvar aortic stenosis, but end-stage ischaemic heart disease is rare. We report a case of end-stage ischaemic heart disease due to severe coronary arterial stenosis, highlighting how cardiovascular MRI contributed to the management.

Williams syndrome is caused by a gene deletion of chromosome 7. A majority of the cases are sporadic with typical facial appearance, cardiac anomalies, and mental retardation. We report a rare case of Williams syndrome associated with supravalvular aortic stenosis, subvalvular aortic membrane, mitral regurgitation, aortic coarctation, and patent ductus arteriosus. The patient had undergone a single-stage surgical repair with satisfactory results at 5 months of follow-up.