Fluorescence in situ hybridization (FISH) as an irreplaceable diagnostic tool for Williams-Beuren syndrome in developing countries: a literature review / Hibridização in situ fluorescente (FISH) como ferramenta diagnóstica insubstituível para a síndrome de Williams-Beuren em países em desenvolvimento: uma revisão de literatura

ABSTRACT Objective: The aim of this study was to sum up and characterize all Williams-Beuren syndrome cases diagnosed by fluorescence in situ hybridization (FISH) since its implementation, as well as to discuss FISH as a cost-effective methodology in developing countries. Data source: From January 1986 to January 2022, articles were selected using the databases in PubMed (Medline) and SciELO. The following terms were used: Williams syndrome and In Situ Hybridization, Fluorescence. Inclusion criteria included Williams-Beuren syndrome cases diagnosed by FISH with a stratified phenotype of each patient. Only studies written in English, Spanish, and Portuguese were included. Studies with overlapping syndromes or genetic conditions were excluded. Data synthesis After screening, 64 articles were included. A total of 205 individuals with Williams-Beuren syndrome diagnosed by FISH were included and further analyzed. Cardiovascular malformations were the most frequent finding (85.4%). Supravalvular aortic stenosis (62.4%) and pulmonary stenosis (30.7%) were the main cardiac alterations described. Conclusions: Our literature review reinforces that cardiac features may be the key to early diagnosis in Williams-Beuren syndrome patients. In addition, FISH may be the best diagnostic tool for developing nations that have limited access to new technologic resources.

RESUMO Objetivo: Caracterizar todos os casos de síndrome de Williams-Beuren (SWB) diagnosticados por hibridização in situ fluorescente (FISH) desde sua implementação, assim como discutir a relação custo-benefício da metodologia de FISH em países em desenvolvimento. Fontes de dados: Entre janeiro de 1986 e janeiro de 2022 foi realizada uma busca nas bases de dados PubMed (Medical Literature Analysis and Retrieval System Online — Medline) e Scientific Electronic Library Online (SciELO) usando os seguintes termos: síndrome de Williams e hibridização in situ fluorescente. O critério de inclusão utilizado foi conter a descrição detalhada de caso(s) de SWB por FISH. Apenas estudos escritos em inglês, espanhol e português foram incluídos. Trabalhos que apresentavam sobreposição de síndromes/condições genéticas foram excluídos. Síntese dos dados: Após os processos de inclusão, 64 artigos e 205 indivíduos com SWB diagnosticados por meio do método de FISH foram incluídos. O achado mais frequente entre os indivíduos foi a presença de algum tipo de malformação cardíaca (85,4%). A estenose aórtica supravalvar (62,4%) e a estenose pulmonar (30,7%) foram as alterações cardíacas mais descritas. A maioria dos estudos era proveniente dos continentes Europa, Ásia e América do Norte. Conclusões: A presente revisão de literatura reitera que as malformações cardíacas podem ser a chave para o diagnóstico precoce em pacientes com SWB. Ainda, a técnica de FISH parece ser a melhor ferramenta de diagnóstico para os países em desenvolvimento, cujo acesso às novas tecnologias ainda é escasso.

Clinical features and ultrasonographic findings of Williams syndrome in children / 中国小儿急救医学

Objective:To analyze the clinical features and ultrasonographic features of Williams syndrome(WS) in children, and to explore the diagnostic value of ultrasonography in this disease.Methods:A retrospective analysis was performed on 19 children with abnormal echocardiography at Hunan Children′s Hospital from January 2016 to December 2020, and the abnormal echocardiography was evaluated by WS phenotypic scoring method of American Academy of Pediatrics.Cardiological CT and genetic tests were performed, and the clinical data and ultrasound image characteristics were analyzed.Results:The WS score of 19 cases was more than six, which was highly suspicious clinically.In 19 cases, supra-aortic stenosis and pulmonary stenosis were the most common findings on echocardiography, accounting for 63.2%(12/19), among which three cases were complicated with aortic arch constriction and one case with mitral lobe deformity.There were 15.8%(3/19)children with supra-aortic stenosis associated with pulmonary artery velocity increase, and 10.5%(2/19)children with left and right pulmonary artery branch stenosis associated with aortic inner diameter narrowing.Other cardiac malformations were found in 42.1%(8/19) of the children.Chromosome 7 microdeletions accounted for 68.4%(13/19) in genetic examination, and no abnormalities were found in three cases(15.8%, 3/19). The genetic results of three cases were still under follow-up.Conclusion:Echocardiography can accurately and sensitively detect cardiac lesions in children with WS.Combined with WS score of American Academy of Pediatrics, the diagnosis rate of WS can be improved.

Restorative treatment in patient with Williams Syndrome: case report / Tratamento restaurador em paciente com Síndrome de Williams: relato de caso

ABSTRACT In Dentistry, any user with one or more limitations, of temporary or permanent mental nature, of physical, sensory, emotional or medical growth, is considered to be a Patient with Special Needs, preventing him from being subjected to a conventional dental situation. These patients form a group which may be considered at high risk for the development of oral diseases, according to the kind of pathogen. Among them, is the Williams-Beuren Syndrome, a rare congenital disease with cardiovascular involvement, mental retardation, dysmorphic face, idiopathic hypercalcemia, musculoskeletal problems, dental and growth anomalies. Familial and sporadic cases are thought to result from deletion of genetic material from adjacent genes located on the long arm of chromosome 7. This article reports a clinical case involving a four-year-old boy with Williams-Beuren Syndrome, referred to the clinic of the Specialization Course for Patients with Special Needs, at the São Leopoldo Mandic Dental Research Center, Campinas (SP). As the patient was resistant to dental care, in order to reduce anxiety and increase collaboration in clinical sessions, the Hixizine® medication was administered. For atraumatic restorative treatment and restorations, the following materials were used: Cleanjoy®, Futurabond DC®, Ionofil Plus® Grandioso®, Grandio® and Profluorid®. As result, it was possible to reach a level of excellence using the indicated materials and specific protocols. Based on this work and the lived experience, it can be observed that these patients can receive welcoming dental care in specialized clinics.

RESUMO Na Odontologia é considerado Paciente com Necessidades Especiais todo usuário que apresenta uma ou mais limitações, temporárias ou permanentes, de ordem mental, física, sensorial, emocional, de crescimento ou médica, que o impeça de ser submetido a uma situação odontológica convencional. Esses pacientes formam um grupo que pode ser considerado de alto risco para o desenvolvimento de doenças bucais, de acordo com o tipo de patogenia. Dentre elas, tem-se a Síndrome de Williams-Beuren, uma desordem congênita rara com envolvimento cardiovascular, retardo mental, face dismórfica, hipercalcemia idiopática, problemas musculoesqueléticos, anomalias dentárias e de crescimento. Os casos são hereditários ou esporádicos e a causa está na concepção com a deleção no braço longo do cromossomo 7. Este artigo relata um caso clínico envolvendo um menino de quatro anos, portador da síndrome, encaminhado para atendimento na Clínica do Curso de Especialização em Pacientes com Necessidades Especiais do Centro de Pesquisas Odontológicas São Leopoldo Mandic, Campinas (SP). Como o paciente apresentava resistência ao atendimento odontológico, com o objetivo de diminuir a ansiedade e aumentar a colaboração, nas sessões de atendimento foi administrado o medicamento Hixizine®. Para o tratamento restaurador atraumático e restaurações estéticas utilizou-se os seguintes materiais: Cleanjoy®, Futurabond DC®, Ionofil Plus®, Grandioso®, Grandio® e Profluorid®. Como resultado, foi possível atingir grau de excelência utilizando os materiais indicados e protocolos específicos. Mediante o caso relatado e frente à experiência vivenciada, pode-se perceber que esses pacientes podem receber um atendimento odontológico acolhedor nas clínicas especializadas.

O perfil audiológico e a funcionalidade coclear na síndrome de Williams / Audiological profile and cochlear functionality in Williams syndrome

RESUMO Objetivo avaliar o perfil audiológico e a funcionalidade coclear em indivíduos com SW. Método estudo com 39 indivíduos, sendo 22 indivíduos com SW com idade entre 7 e 17 anos, sendo 15 do sexo masculino e 7 do sexo feminino e 17 indivíduos com desenvolvimento típico e normo-ouvintes. Todos os indivíduos foram avaliados por meio da audiometria tonal limiar, medidas de imitância acústica e análise das Emissões Otoacústicas Transientes (EOAT). Foi avaliado o perfil audiológico dos indivíduos com SW, e também foram comparadas as respostas das EOAT entre os indivíduos com SW sem perda auditiva e indivíduos controles. Resultados perda auditiva foi observada em 50% dos pacientes, sendo 78,95% neurossensorial e 21,05% mista. Esta perda foi predominantemente de grau leve a moderado, acometendo principalmente as frequências a partir de 3 kHz. Quanto às EOAT, observou-se maior incidência de ausência e de respostas de menor amplitude em indivíduos com SW. Conclusão indivíduos com SW apresentam disfunção das células ciliadas, principalmente da região basal da cóclea. Assim, a análise das EOAT é um recurso clínico importante a ser considerada na avaliação audiológica de rotina.

ABSTRACT Purpose to evaluate cochlear functionality in Williams syndrome (WS) individuals. Methods a study with 39 individuals, being 22 with WS aged between 7 and 17 years, 15 male and 7 female, and 17 individuals with typical development and normal hearing. All individuals were evaluated using pure tone audiometry, acoustic immittance measurements, and Transient Evoked Otoacoustic Emissions (TEOAE). The audiological profile in individuals with WS was analyzed, and TEOAE responses were compared between WS individuals without hearing loss and typical developmental individuals. Results The hearing loss was observed in 50% of patients, being 78.95% sensorineural and 21.05% mixed. This hearing loss was predominantly mild to moderate, affecting mainly frequencies above 3 kHz. As for TEOAE, there was a higher incidence of absence and lower amplitude responses in individuals with WS. Conclusion WS individuals have hair cell dysfunction, mainly in the basal region of the cochlea. Thus, TEOAE analysis is an important clinical resource to be considered in the routine audiological evaluation.

Nationwide questionnaire data of 229 Williams-Beuren syndrome patients using WhatsApp tool / Resultados de um questionário nacional de 229 pacientes com síndrome de Williams-Beuren obtidos por WhatsApp

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.

RESUMO Antecedentes: A síndrome de Williams-Beauren é doença de acometimento multisistêmico causado pela microdeleção da região 7q11.23. Apesar de haver casos familiares com herança autossômica dominante, a grande maioria dos casos é esporádica. Objetivo: Investigar as principais queixas e achados clínicos da síndrome. Métodos: 757 pais de pacientes inscritos na Associação Brasileira de Síndrome de Williams-Beuren (ABSW) receberam um questionário pelo WhatsApp, entre março e julho de 2017. Resultados: 229 pais de pacientes responderam à pesquisa. A idade de diagnóstico variou de 2 dias até 34 anos (mediana: 3 anos). Os principais achados reportados pelos pais: cólicas abdominais (83,3%), deficiência ponderoestatural (71,5%), dificuldade de alimentação no primeiro ano (68,9%), otite (56,6%), infecções do trato urinário (31,9%), puberdade precoce (27,1%) e escoliose (15,9%). Cardiopatias estavam presentes em 66%, sendo que a mais frequente era a estenose pulmonar supravalvar (36%). Hipertensão arterial foi reportada em 23%. Hipercalcemia foi reportada em 10,5%, principalmente no primeiro ano de vida. Hiperacusia e hiperssociabilidade foram achados comuns (89%). Os principais achados comportamentais e psiquiátricos reportados pelos pais foram: déficit de atenção (89%), crises de raiva (83%), medo excessivo (66%), depressão (64%), ansiedade (67%) e hiperssexualidade (33%). As queixas principais referidas foram hipersensibilidade a sons, personalidade excessivamente amigável, dependência emocional e dificuldades escolares. Em 98,3% dos casos os pais negaram história familial. Conclusões: A síndrome de Williams-Beuren é requer um seguimento e manejo estritos, com diferentes especialidades médicas devido às comorbidades clínicas variadas, que incluem dificuldades de linguagem e aprendizagem escolar, além de dificuldades comportamentais e psiquiátricas.

Tympanic Membrane Retractions in patients with Williams Syndrome: A Controlled Study

Abstract Introduction The role of elastin in tympanic retractions and chronic otitis media is not well established. Williams Syndrome (WS), a pathology related to a mutation in the elastin gene, could generate tympanic retractions. Objective To compare the prevalence of tympanic retractions among patients with WS and controls. Methods WS patients (n= 43 ears) and controls (n= 130 ears) were evaluated by digital otoscopic examination and the degree of tympanic membrane retraction was classified by 2 blinded experienced otolaryngologists. Results The agreement rate between the evaluators was 71.1% for pars tensa and 65% for pars flaccida retraction (p< 0.001). The pars tensa and pars flaccida retractions are present in patients with WS after an adjusted residue of respectively - 2.8 and - 2.6 (p= 0.011 and p= 0.022) compared with controls. Conclusions Tympanic membrane retractions are not more common in the WS group when compared with controls.

Treatment and effect of cardiovascular surgery in patients with Williams syndrome / 中国胸心血管外科临床杂志

@#Objective    To analyze the effects of cardiovascular surgery on Williams syndrome (WS). Methods    The clinical data of 68 WS patients undergoing cardiovascular surgery in the Department of Cardiac Surgery, Guangdong Provincial People's Hospital from January 2010 to January 2020 were retrospectively analyzed. There were 48 males and 20 females with a median age of 2.8 years ranging from 3 months to 33 years. Except one patient undergoing the coarctation repair, the rest 67 patients underwent surgical interventions to correct supravalvular aortic stenosis (SAVS) and pulmonary artery stenosis with hypothermic cardiopulmonary bypass, concommitant with 3 patients of relief of left ventricular outflow tract obstruction, 2 patients of relief of right ventricular outflow tract obstruction, 2 patients of mitral valvuloplasty, 3 patients of ventricular septal defect repair and 1 patient of arterial catheter ligation. Results    Two (2.9%) patients died of sudden cardiac arrest on the next day after surgery. One (1.5%) patient died of cardiac insufficiency due to severe aortic arch stenosis 3 years after surgery. The effect of SAVS was satisfactory. Two (2.9%) patients progressed to moderate aortic valvular regurgitation during postoperative follow-up. A total of 5 (7.4%) patients were re-intervened after operation for arch stenosis or pulmonary stenosis. Conclusion    WS patients should be diagnosed early, followed up and  assessed for cardiovascular system diseases, and timely surgical treatment has a good clinical effect.

Research progress on Williams syndrome complicated with cardiovascular disease / 中国胸心血管外科临床杂志

@#Williams syndrome is a congenital multisystem disease. Cardiovascular abnormality caused by elastin deficiency is the main cause of morbidity and mortality in Williams syndrome patients. Recent studies have found that 80% of Williams syndrome patients have cardiovascular abnormalities, most of which are arterial stenosis, especially the aortic valve stenosis and pulmonary artery stenosis. Operation is the main method to treat the stenosis of the artery, and the results of the operation on the aortic valve stenosis in most centers are good, but the effect of transcatheter intervention is still not obvious, pulmonary artery reconstruction has a good effect on the treatment of peripheral pulmonary artery stenosis. Advances in genetic diagnosis, surgical techniques and treatment regimens are expected to significantly improve cardiovascular outcomes in these patients. This article reviews the latest research progress of Williams syndrome combined with cardiovascular disease.

Cardiac arrest after induction of anesthesia in a 2-month-old infant with undiagnosed Williams syndrome

A 2-month-old male infant presented for elective repair of inguinal hernias. His preoperative medical history and physical examination were unremarkable. During induction of anesthesia, the infant sustained an adverse cardiac event. The event was characterized by tachycardia, hypotension, and massive ST-segment elevation. Despite vigorous resuscitation, spontaneous hemodynamic stability could not be achieved and extracorporeal membrane oxygenation was required. A transthoracic echocardiogram revealed severe hypoplasia of the ascending aorta. As effective cardiac function did not recover and there was evidence of diffuse ischemic brain injury, life support was withdrawn. Genetic testing performed postoperatively was definitive for Williams syndrome.

Utilidad del método clínico en el diagnóstico de algunos síndromes genéticos / Use fulness of the clinical method for diagnosing a group of clinical syndromes

Introducción: El método científico es un método general, constituido por varias etapas necesarias en el desarrollo de toda investigación científica. Es la forma de abordar la realidad y estudiar los fenómenos de la naturaleza, para descubrir su esencia y sus interrelaciones. El método clínico es la aplicación particular del método científico en el ejercicio de la práctica médica, y en las condiciones económicas actuales prevalecientes a nivel mundial resulta de inestimable valor su aplicación por las ventajas que reporta desde ese punto de vista, así como también por el bienestar del paciente que no es sometido a innecesarios y costosos procedimientos diagnósticos. Objetivo: Proporcionar al personal médico los criterios clínicos para lograr, mediante el uso del método clínico, el diagnóstico de algunos síndromes genéticos; los que han sido elaborados luego de una exhaustiva delineación clínica de estos. Métodos: Se realizó una revisión de los textos básicos de genética clínica y sindromología con independencia del año de su publicación y se realizó una búsqueda en las bases de datos Medline, Lilacs y Cochrane en el periodo comprendido entre 2012 y 2016. Conclusiones: Fueron reflejados los criterios establecidos para el diagnóstico clínico de catorce síndromes genéticos(AU)

Introduction: The scientific method is a general method which consists of several stages necessary for the development of all scientific research. It is the way to approach reality and to study the phenomena of nature, to discover their essence and interrelations. The clinical method is the particular application of the scientific method in the medical practice, and in the current economic conditions prevailing worldwide, its application is of inestimable value because of the advantages it brings from that point of view, as well as for the well-being of the patient, who would not be subjected to unnecessary and expensive diagnostic procedures. Objective: To provide the medical personnel with the clinical criteria to achieve, through the use of the clinical method, the diagnosis of some genetic syndromes. Such criteria have been elaborated after an exhaustive clinical description of those conditions. Methods: A review of basic texts of clinical genetics and syndromology was carried out regardless the year of publication. A search was carried out in the databases Medline, Lilacs and Cochrane, in the period between 2012 and 2016. Conclusions: The criteria established for the clinical diagnosis of fourteen genetic syndromes have been presented(AU)

Phonological awareness training and reading gains in a child with Williams Syndrome: a case report

ABSTRACT Williams syndrome is a neurodevelopmental disorder with different manifestations caused by a heterozygous segmental deletion of 1.55-1.83Mb at chromosomal band 7q11.23. The Williams syndrome phenotype is characterized by intellectual deficiency and expressive learning deficits, with impairments in phonological awareness skills. The aim of the study was to verify the effects of an intervention in phonological awareness and grammar teaching, for the acquisition of reading skills and literacy indicators in a child with Williams Syndrome. A case of a 6-year old girl, enrolled in the first year of Elementary School, was reported. The Phonological Awareness Test by Oral Production, the Words and Pseudo-words Reading Competence Test, the Provinha Brasil (reading test), and a Phonological Awareness Literacy Software, were used for phonological awareness and grammar teaching intervention. The study was developed in four phases: pre-intervention assessment, intervention, post-intervention assessment and follow-up, after six months. The results showed progress in phonological awareness skills, mainly in tasks of rhyme, alliteration and syllabic synthesis, as well as reading indicators that were compatible with the school year, following the intervention.

Cognitive and behavioral profile of Williams Syndrome toddlers / Perfil cognitivo comportamental de crianças pré-escolares com Síndrome de Williams

ABSTRACT Purpose To verify indicators of cognitive development, receptive language skills and adaptive behavioral patterns in toddlers with Williams syndrome (WS). Methods The sample comprised 8 children of both sex, aged between 48 and 72 months with WS. Instruments of data collection were Denver Developmental Screening Test II; Peabody Picture Vocabulary Test; Vineland Adaptive Behavior Scale; Child Behavior Checklist for Ages 1½-5and 6 to 18; Columbia Mental Maturity Scale (CMMS), and Behavior Problems Inventory-01. Results The major developmental impairments were associated with fine motor skills and personal care abilities. Deficits in receptive language and communication skills were reported according to the PPVT and Denver II, respectively. The caregivers reported behavioral and emotional problems associated to anxiety and depression, and attention problems scales of CBCL. Conclusion The toddlers demonstrated deficits in adaptive functioning and behavioral, motor and cognitive difficulties such as inattention and hyperactivity, stereotypies and aggressive behavior.

RESUMO Objetivo Verificar indicadores de desenvolvimento cognitivo, habilidades de linguagem receptiva e padrões comportamentais adaptativos em pré-escolares com Síndrome de Williams (SW). Método A amostra foi composta por 8 crianças de ambos os sexos, com idade entre 48 e 72 meses com SW. Os instrumentos de coleta de dados utilizados foram Denver Developmental Screening Test II; Peabody Picture Vocabulary Test; Escala de comportamento adaptativo Vineland; Child Behavior Checklist (CBCL) para as idades 1½-5 e 6 a 18; Inventário de Problemas de Comportamento (BPI-01) e Escala de Maturidade Mental Columbia. Resultados Os principais prejuízos de desenvolvimento foram associados a habilidades motoras finas e habilidades de cuidados pessoais. Os déficits em linguagem receptiva e habilidades de comunicação foram relatados de acordo com o PPVT e Denver II, respectivamente. Os cuidadores relataram problemas comportamentais e emocionais associados às escalas de ansiedade e depressão e de problemas de atenção do CBCL. Conclusão Os pré-escolares demonstraram déficits no funcionamento adaptativo e dificuldades comportamentais, motoras e cognitivas, como desatenção e hiperatividade, estereotipias e comportamento agressivo.

Características da avaliação auditiva na síndrome de Williams: revisão sistemática / Characteristics of auditory evaluation in Williams syndrome: a systematic review

RESUMO Objetivo Identificar por meio de uma revisão sistemática da literatura quais são as características da avaliação audiológica clínica de indivíduos com síndrome de Williams. Estratégia de pesquisa Inicialmente foi determinada a seguinte pergunta de pesquisa: "Quais são as características da avaliação auditiva clínica em indivíduos com síndrome de Williams?". A partir desta, foi realizado um levantamento bibliográfico em 4 bases de dados, utilizando-se dos seguintes descritores: síndrome de Williams (Williams syndrome), perda auditiva (hearing loss) e audiologia (audiology). Critérios de seleção Foram selecionados artigos com nível de evidência 1 ou 2, publicados na íntegra nos idiomas português brasileiro ou inglês. Análise dos dados Foram analisados os resultados obtidos nos testes auditivos utilizados na rotina clínica, incluindo: imitanciometria, audiometria tonal, emissões otoacústicas e potencial evocado auditivo de tronco encefálico. Resultados 209 estudos foram encontrados, porém apenas 12 contemplaram os critérios de inclusão para o estudo. Foi possível observar prevalência de curva timpanométrica do tipo A, que pode ocorrer juntamente com ausência de reflexos acústicos, perda auditiva neurossensorial de grau leve a moderado acometendo principalmente as frequências altas, emissões otoacústicas ausentes ou de menor amplitude e potencial evocado auditivo de tronco encefálico sem alteração retrococlear. Conclusão O comprometimento coclear é comum em indivíduos com síndrome de Williams e as principais alterações na avaliação auditiva nesta população são a ausência das emissões otoacústicas e dos reflexos acústicos bem como a presença de perda auditiva neurossensorial de grau leve a moderado principalmente nas frequências altas na audiometria tonal.

ABSTRACT Purpose Identify the characteristics of the clinical audiological evaluation of individuals with Williams syndrome by means of a systematic literature review. Research strategies The following research question was initially determined: "What are the characteristics of clinical auditory assessment in individuals with Williams syndrome?". From this, a bibliographic search was conducted in four databases using the descriptors: Williams syndrome, Hearing loss, and Audiology. Selection criteria Only full articles with evidence levels 1 or 2, published in Brazilian Portuguese or English, were selected. Data analysis Results obtained in the auditory tests used in the clinical routine, namely: immittance test, pure-tone audiometry, otoacoustic emissions, and brainstem auditory evoked potential were analyzed. Results Two hundred nine studies were found, but only 12 met the inclusion criteria for the study. It was possible to observe prevalence of type A tympanometry curve, which may occur with absence of acoustic reflexes, mild to moderate sensorineural hearing loss, affecting mainly the high frequencies, absent or less amplified otoacoustic emissions, and brainstem auditory evoked potential without retrocochlear alteration. Conclusion Cochlear impairment is common in individuals with Williams syndrome and the main disorders found in the hearing assessment in this population are absence of otoacoustic emissions and acoustic reflexes, as well as presence of mild to moderate sensorineural hearing loss, mainly in the high-frequency range, observed by audiometry.

Considerations for dental treatment of Williams syndrome patients / 대한구강보건학회지

Williams syndrome is a rare congenital disorder with various physical abnormalities and characterized by facial, oral, and dental features. Individuals with Williams syndrome typically have eating disorders in the early childhood, which lead to prolonged night feeding. Prolonged night feeding is a risk factor for rampant dental caries. Williams syndrome is caused by the microdeletion of chromosome 7, resulting in elastin deficiency. Elastin is integral to cardiovascular health. Many patients with Williams syndrome have complex cardiovascular abnormalities that must be considered a part of dental management. Complications related to cardiovascular diseases may induce adverse effects such as dangerously elevated blood pressure. This may occur in patients during stressful dental treatment. In addition, characteristics of auditory hyperalgesia and anxiety disorders among patients with William syndrome, complicate receiving routine dental management. Therefore, dental treatment under sedation or general anesthesia may be preferable for patients with Williams syndrome; in particular, patients who are very uncooperative and/or needs extensive dental treatment. A thorough evaluation of each patient's physical condition is required before making decisions regarding dental treatment. Careful monitoring and preparation for emergencies are very important during and shortly after dental treatment under general anesthesia or sedation. Monitoring is critical until vital signs have stabilized and return to normal. A 28-month-old man diagnosed as having Williams syndrome, visited the Dental Hospital of OO University for the management of rampant dental caries. We reported on the management of this patient who had peripheral pulmonic stenosis, and received dental treatment under general anesthesia. We also reviewed the characteristics of Williams syndrome and discussed considerations for dental treatment under general anesthesia.

Advances in clinical diagnosis and treatment of Williams syndrome / 国际儿科学杂志

Williams syndrome is a rare disease caused by 1.5 ～ 1.8 Mb gene deletion in the chromosome 7q1 1.23 region,with autosomal dominant inheritance.The incidence is about 1/10 000.It involves the cardiovascular system,nervous system,endocrine system and so on,and is most likely to cause damage to the cardiovascular system.The mortality of sudden cardiac death in patients with Williams syndrome is higher than that in healthy population.At present,suspected patients were screened by Lowery score and the American pediatrics score,then were evaluated by imaging examination and were diagnosed by gene detection.The main therapy is symptomatic treatment.Therefore,it is important to ensure an accurate diagnosis and prompt treatment.In the article,the research progress of the clinical diagnosis,gene diagnosis,gene therapy and prognosis is reviewed.

Williams Syndrome with Multiple Cervical Vertebral Fusion Presenting Dysphagia: A Case Report / 대한연하장애학회지

Williams syndrome is a multiple-system disorder, caused by deletion of the locus 7q11-23 gene and characterized by an ‘elfin’ facial appearance, developmental delay, cardiovascular disorders, and transient hypercalcemia. Vertebral abnormalities in Williams syndrome have not been reported yet, except for one case report on cervical stenosis at the C1 level. In this case, the authors incidentally found Williams syndrome with the fusion of the fifth and sixth cervical vertebrae and an associated dysphagia showing delayed, forward-deviating esophageal passage during a videofluoroscopic swallowing study. The authors could not confirm whether the multiple cervical vertebrae fusion was related with the Williams syndrome or was just incidental. However, because physiatrists frequently encounter children with Williams syndrome and numerous kinds of developmental delay, if a patient with Williams syndrome suffers from swallowing difficulty, evaluation of dysphagia and cervical abnormalities should be considered. The present authors report the case of multiple cervical vertebral fusion in Williams syndrome.

Williams Syndrome with Ocular Manifestations

PURPOSE: To report two cases of Williams syndrome with ocular manifestations CASE SUMMARY: A 5-year-old boy who was diagnosed with Williams syndrome visited our hospital for ophthalmic examination. Best corrected visual acuity (BCVA) in both eyes was 0.6. He had myopic astigmatism and 8 prism diopters of esotropia. Oval-shaped pupil with a stellate pattern of the iris and increased retinal vascular tortuosity were seen in both eyes. Another case of an 8-year-old boy with Williams syndrome also had myopia in both eyes. BCVA was 0.7 in the right eye and 0.4 in the left eye. A stellate pattern of the iris and increased retinal vascular tortuosity were also seen in both eyes. CONCLUSIONS: Williams syndrome, deletion of 7q11.23, has ocular anomalies including a stellate pattern of the iris, refractive errors, amblyopia, and strabismus. Therefore, careful ophthalmic examination should be considered when children are diagnosed with Williams syndrome.

A Diagnosis to Consider in an Adult Patient with Facial Features and Intellectual Disability: Williams Syndrome / 가정의학회지

Williams syndrome (OMIM #194050) is a rare, well-recognized, multisystemic genetic condition affecting approximately 1/7,500 individuals. There are no marked regional differences in the incidence of Williams syndrome. The syndrome is caused by a hemizygous deletion of approximately 28 genes, including ELN on chromosome 7q11.2. Prenatal-onset growth retardation, distinct facial appearance, cardiovascular abnormalities, and unique hypersocial behavior are among the most common clinical features. Here, we report the case of a patient referred to us with distinct facial features and intellectual disability, who was diagnosed with Williams syndrome at the age of 37 years. Our aim is to increase awareness regarding the diagnostic features and complications of this recognizable syndrome among adult health care providers. Williams syndrome is usually diagnosed during infancy or childhood, but in the absence of classical findings, such as cardiovascular anomalies, hypercalcemia, and cognitive impairment, the diagnosis could be delayed. Due to the multisystemic and progressive nature of the syndrome, accurate diagnosis is critical for appropriate care and screening for the associated morbidities that may affect the patient's health and well-being.

Indicadores socioemocionais do espectro do autismo em pessoas com síndrome de Williams / Social and emotional indicators of the autism spectrum in individuals with Williams syndrome / Indicadores socio­emocionales del espectro del autismo en individuos con síndrome de Williams

A síndrome de Williams (SW) é uma desordem genética causada pela deleção de múltiplos genes no cromossomo 7. Evidências clínicas alertam para indicadores de prejuízos socioemocionais compatíveis com Transtorno do Espectro Autista (TEA). O objetivo do estudo foi identificar indicadores socioemocionais e comportamentais compatíveis com autismo em pessoas com SW. A amostra foi composta por 30 indivíduos com diagnóstico de SW e 22 com TEA. Os instrumentos de coleta de dados foram Inventário de Comportamentos Autísticos (Autism Behavior Checklist – ABC); e Questionário de Avaliação de Autismo (Autism Screening Questionnaire – ASQ), respondidos pelos respectivos cuidadores. Foi conduzida uma análise discriminante (modelo Step Wise) para diferenciação dos grupos a partir dos itens dos inventários ABC e ASQ. O grupo de pessoas com SW apresentou um número expressivo de sinais de alterações socioemocionais, comunicativas e de comportamento compatíveis com Autismo que predominaram na fase dos quatro a cinco anos de idade.

Williams Syndrome (WS) is a genetic disorder caused by the deletion of multiple genes on chromosome 7. Clinical evidence points to socio‑emotional alterations compatible with Autism Spectrum Disorder (ASD). The goal of this study was to identify socio‑emotional and behavioral signs compatible with ASD in individuals with WS. The sample consisted of 30 individuals with WS and 22 with ASD. The data collection instruments were Autism Behavior Checklist (ABC); and Autism Screening Questionnaire (ASQ) that were answered by the caregivers. We conducted a discriminant analysis (Step Wise) to differentiate the groups from items of the ABC and ASQ inventories. The WS group showed a large number of signs of socio‑emotional, communicative and behavioral alterations compatible with Autism that prevailed at the age of four to five years.

El Síndrome de Williams (SW) es una enfermedad genética causada por la delección de múltiplos genes en el cromosoma 7. Evidencias clínicas alertan para indicadores de afectaciones socio‑emocionales compatibles con Trastorno del Espectro del Autismo (TEA). El objetivo del estudio fue identificar indicadores socio‑emocionales y conductuales compatibles con Autismo en personas con SW. La muestra fue compuesta por 30 individuos con diagnóstico de SW y 22 con TEA. Los instrumentos de colecta de datos fueron Inventario de Conductas Autisticos (Autism Behavior Checklist – ABC); y Cuestionario de Conducta y Comunicación Social (Autism Screening Questionnaire – ASQ), respondidos por los respectivos cuidadores. Fue conducido un análisis discriminante (modelo Step Wise) para diferenciación de los grupos a partir de los itens de los inventarios ABC y ASQ. El grupo de personas con SW presentó un número expresivo de señales de alteraciones socio‑emocionales, comunicativas y de conducta compatibles con Autismo que predominaron en la fase de los cuatro a cinco años de edad.

Síndrome de duplicación 7q11. 23: Primer caso descrito en América Latina / Chromosome 7q11. 23 duplication syndrome: First reported case in Latin America

El síndrome de duplicación 7q11.23 es una patología causada por la duplicación de una región del cromosoma 7 que comprende 26 genes. El primer caso descrito en la literatura fue reportado por Somerville et al., en el año 2005, quienes describieron un paciente con dolicocefalia, frente alta y estrecha, pestanas largas, nariz alta y ancha, filtrum corto, paladar ojival, maloclusión dental, retrognatia y retardo grave en el lenguaje. Presentamos una paciente colombiana con hallazgo de duplicación 7q11.23 mediante técnicas de hibridación genómica comparativa y hallazgos clínicos clásicos. Este es el primer caso comunicado en Colombia y en América Latina.

7q11.23 duplication syndrome is a disease caused by duplication of a region of chromosome 7 comprising 26 genes. The first case described in the literature was reported by Somerville et al. in 2005, who described a patient with dolichocephaly, high and narrow forehead, long eyelashes, high and wide nose, short philtrum, high arched palate, dental malocclusion, retrognathia, and severe language delay. We report the case of a Colombian patient with 7q11.23 duplication by comparative genomic hybridization techniques, and classical clinical findings, this being the first reported case in Colombia and Latin America.