Natural history of Williams syndrome: Physical characteristics

doi:10.1016/S0022-3476(88)80272-5

The Journal of Pediatrics

Volume 113, Issue 2, August 1988, Pages 318-326

https://doi.org/10.1016/S0022-3476(88)80272-5 Get rights and content

The natural history of Williams syndrome, including medical complications, growth patterns, and problems in adulthood, was investigated. A growth pattern characterized by delay in the first 4 years of life, catch-up growth in childhood, and low ultimate adult height was found. Despite multiple medical problems in infancy, including feeding problems, failure to thrive, colic, and otitis media, mean age at diagnosis was 6.4 years. Developmental disabilities and cardiovascular disease were the major concerns in childhood. The older children developed progressive joint limitation and hypertonia. Adult patients were handicapped by their developmental disabilities. Hypertension, and gastrointestinal and genitourinary problems occurred frequently. Independent living and competitive employment were limited less by the individual's physical problems than by the psychologic and adaptive limitations. Williams syndrome is a progressive disorder with multisystem involvement.

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Cited by (575)

Brazilian growth charts for Williams–Beuren Syndrome at ages 2 to 18 years
2024, Jornal de Pediatria
To develop growth charts for weight-for-age, height-for-age, and body mass index (BMI)-for-age for both genders aged 2 to 18 years for Brazilian patients with Williams-Beuren Syndrome (WBS).
This is a multicenter, retrospective, and longitudinal study, data were collected from the medical records of boys and girls with a confirmed diagnosis of WBS in three large university centers in the state of Sao Paulo, Brazil. Growth charts stratified by gender and age in years were developed using LMSchartmaker Pro software. The LMS (Lambda Mu Sigma) method was used to model the charts . The quality of the settings was checked by worm plots.
The first Brazilian growth charts for weight-for-age, height-for-age, and BMI-for-age stratified by gender were constructed for WBS patients aged 2 to 18 years.
The growth charts developed in this study can help to guide family members and to improve the health care offered by health professionals.
“Not in the mood”: The fear of being laughed at is better predicted by humor temperament traits than diagnosis in neurodevelopmental conditions
2023, Research in Developmental Disabilities
Research has shown that autistic individuals seem to be more prone to develop gelotophobia (i.e., the fear of being laughed at) than typically developing individuals. The goals of the present study were to discover whether the high levels of gelotophobia found in autism in previous studies were replicated here, to expand the research to Down syndrome (DS) and Williams syndrome (WS), and to assess the relation between individual differences and social impairments, affective predispositions, and humor temperament.
Questionnaires were distributed to parents of autistic individuals (N = 48), individuals with DS (N = 139), and individuals with WS (N = 43) aged between 5 and 25 years old.
Autistic individuals were shown to frequently experience at least a slight level of gelotophobia (45%), compared to only 6% of individuals with DS and 7% of individuals with WS. Interestingly, humorless temperament traits (i.e., seriousness and bad mood) manifested as the strongest predictors of gelotophobia. This relation even transcended group differences.
The results confirm that gelotophobia seems to be particularly concerning for autistic individuals, whereas individuals with DS and WS seem to be more protected from developing such a fear. Moreover, it appears that gelotophobia seems to be more linked to high seriousness and irritability than diagnosis.
Influence of motor ability on daily living ability in individuals with Williams syndrome and individuals with Down syndrome
2023, International Review of Research in Developmental Disabilities
This study aimed to empirically assess the usefulness of a new and necessary practical daily living test (P-DLT) of individuals with Williams syndrome (WS: N = 21) and individuals with Down syndrome (DS: N = 18). It also aimed to compare P-DLT performance to that on standardised measures of daily living (Vineland Adaptive Behavior Scales, second edition; VABS-II; Sparrow et al., 2016) and motor competence (Bruininks-Oseretsky Test of Motor Proficiency, Second Edition short form BOT2-SF; Bruininks & Bruininks, 2005).
Both groups demonstrated impaired motor and daily living performance. Group differences were observed on the VABS-II and some items of the P-DLT (WS<DS). Associational analyses of raw scores demonstrated that motor ability was associated with the P-DLT, but not the VABS-II, for both groups. P-DLT and VABS II were associated for the DS group only.
We conclude that not all daily living skills are negatively impacted by impaired motor competence in WS or in DS, but that motor competence is strongly associated with many everyday tasks such as getting dressed, using a knife and fork, washing up and clearing up. This has implications for the potential for wide-reaching impact of training to improve motor competence, on independence for these groups. We also demonstrate that a P-DLT is a feasible daily living measure for use with populations with intellectual disabilities, and that it can help mitigate the effect of parent report bias.
An unusual presentation of transverse colon volvulus in a patient with Williams Syndrome: Case report and literature review
2022, Annals of Medicine and Surgery
and Importance: Williams Syndrome (WS) is a well-recognized genetic disorder characterized by multi-system clinical manifestations. However, there are very rare gastrointestinal complications associated with patients with Williams Syndrome. We report the first transverse colon volvulus (TCV) case in an adult with pre-diagnosed Williams Syndrome.
We report a case of a 22-year-old South Asian adult who presented with complaints of generalized progressive abdominal pain, distension, bilious vomiting, and constipation. Detailed history, physical examination, and radiological investigations confirmed the diagnosis of transverse colon volvulus. A subtotal colectomy with end-to-end anastomosis was done.
Patients with Williams Syndrome can develop rare gastrointestinal complications like transverse colon volvulus due to congenital/physiological predisposing factors. It is a surgical emergency and should be diagnosed and managed optimally. In addition, physicians should keep TCV in differential diagnoses while dealing with patients of Williams Syndrome presenting with acute or subacute abdominal pain.
Genetics in Congenital Heart Diseases: Unraveling the Link Between Cardiac Morphogenesis, Heart Muscle Disease, and Electrical Disorders
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Auditory hypersensitivity in Williams syndrome
2021, International Journal of Pediatric Otorhinolaryngology
The objective of this study was to investigate auditory hypersensitivity in WS and to evaluate hyperacusis through standardized protocols, checking if it can be associated with the absence of acoustic reflexes in people with WS.
The study was performed in 17 individuals with WS, aged between seven and 17 years old (10 males and seven females), and 17 individuals with typical development age- and gender-matched to individuals with WS. Statistical tests were used to analyze the responses collected with the Loudness Discomfort Level (LDL) test as well as ipsilateral and contralateral reflex responses.
Auditory hypersensitivity was commonly found. Individuals with WS had phonophobia and were less tolerant to high sound intensity, presenting a reduced discomfort threshold compared to those with typical development. However, hyperacusis was found in 35.29% of individuals with WS and was mild in 50% of cases. There was an association between hyperacusis and acoustic reflex responses, and individuals with absence of the contralateral acoustic reflex were more likely to have hyperacusis.
Individuals with WS have a high prevalence of auditory hypersensitivity, with the presence of phonophobia; however, hyperacusis was not as prevalent and may be associated with the absence of contralateral acoustic reflexes.

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^†: Supported by U.S. Public Health Service research grant No. RR-64 from the Division of Research Resources.

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Original articleNatural history of Williams syndrome: Physical characteristics†

J Thorac Cardiovasc Surg

J Pediatr

Pediatr Clin North Am

J Pediatr

J Pediatr

Oral Surg

Am Heart J

J Pediatr

Appl Res Ment Retard

Dis Chest

Am J Cardiol

J Pediatr

Am J Cardiol

Am J Clin Nutr

Lancet

Lancet

J Pediatr

Am J Clin Nutr

Supravalvular aortic stenosis

Circulation

Multiple bladder diverticula in Williams “elfin-facies” syndrome

Pediatr Radiol

Association between aortic stenosis and facies of severe infantile hypercalcemia

Lancet

The syndrome of supravalvular aortic stenosis, peripheral pulmonary stenosis, mental retardation and similar facial appearance

Am J Cardiol

Supravalvular aortic stenosis: a complex syndrome with and without mental retadation

Birth Defects

Idiopathic hypercalcemia of infancy, with failure to thrive

N Engl J Med

Idiopathic hypercalcemia and supravalvular aortic stenosis

N Engl J Med

Severe infantile hypercalcemia with specific reference to the facies

Arch Dis Child

Idiopathic infantile hypercalcemia: a continuing enigma

Arch Dis Child

Infantile hypercalcemia and supravalvular aortic stenosis

J Pediatr Ophthalmol

Severe type of infantile hypercalcemia

Br Med J

Mental retardation related to hypercalcemia

Dev Med Child Neurol

Williams syndrome: features in late childhood and adolescence

Pediatrics

The Williams syndrome: objective definition and diagnosis

Clin Genet

Supravalvular aortic stenosis syndrome with stenosis of all aortic arch branches

Thorax

Original article
Natural history of Williams syndrome: Physical characteristics†