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Williams syndrome

Last edited: 29 days ago

Overview

Williams syndrome (WS) is a rare neurodevelopmental disorder caused by a microdeletion on chromosome 7q11.23, characterized by distinctive facial features, cognitive profile including strengths in language and weaknesses in visuospatial abilities, and a hypersocial personality 12.

Diagnosis

  • Clinical Features: Distinctive facial appearance, hyperacusis, cardiovascular issues (e.g., supravalvular aortic stenosis), and cognitive profile with strengths in language comprehension and weaknesses in visuospatial tasks 1214.
  • Genetic Testing: Chromosomal microarray analysis or fluorescent in situ hybridization (FISH) to confirm the deletion in chromosome 7q11.23 22.
  • Cardiac Evaluation: Echocardiography to assess for cardiovascular anomalies such as supravalvular aortic stenosis and coronary artery stenosis 101230.
  • Neuropsychological Assessment: Evaluations to identify specific cognitive strengths and weaknesses, including language comprehension and production gaps 5645.

    • Management

  • Cardiovascular Monitoring: Regular echocardiograms to monitor cardiovascular conditions, particularly aortic stenosis 101230.
  • Behavioral and Psychosocial Support: Early intervention programs focusing on social skills training and addressing behavioral and emotional needs 81466.
  • Speech and Language Therapy: Targeted interventions to address language production deficits despite strong comprehension skills 57.
  • Nutritional Guidance: Monitoring and managing resting energy expenditure and nutritional needs, especially in adults 1.

    • Special Populations

  • Pediatrics: Early identification and intervention are crucial for addressing developmental delays and behavioral issues 414.
  • Cardiovascular Comorbidities: Increased vigilance for cardiac complications, particularly in pediatric and adult populations 101130.
  • Quality of Life: Consideration of family quality of life and support needs, especially in pediatric cases 20.

    • Key Recommendations

  • Genetic Confirmation: Use chromosomal microarray analysis for definitive diagnosis of Williams syndrome 22 (Evidence: Strong).
  • Regular Cardiac Monitoring: Perform echocardiograms periodically to manage cardiovascular risks such as aortic stenosis 1012 (Evidence: Strong).
  • Comprehensive Neuropsychological Assessment: Conduct thorough evaluations to tailor educational and therapeutic interventions addressing cognitive strengths and weaknesses 56 (Evidence: Moderate).
  • Social Skills Training: Implement structured social skills training programs to support social interaction and behavior management 866 (Evidence: Moderate).
  • Nutritional Support: Monitor and adjust nutritional plans to account for altered metabolic needs, particularly in adults 1 (Evidence: Weak).

    • References

    Showing 100 most recent of 319 indexed papers.

    1 Renzi DB, Garry J, Hubbard J, Nordstrøm M, Fitch KV, Stanley TL et al.. Resting Energy Expenditure in Adults With Williams Syndrome: Comparative Accuracy of Predictive Equations. Journal of intellectual disability research : JIDR 2026. link 2 Fang J, Yuan L, Kang D, Yu R, Chen W, Shen J et al.. Ophthalmic features of 218 children with Williams syndrome in china: A single-center retrospective study. Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 2026. link 3 Torres-Pérez JV, Anagianni S, Sheardown E, Miletto-Petrazzini ME, Fraser SE, Butterworth B et al.. Lack of Williams syndrome-associated genes alters quantity discrimination in zebrafish. Behavioural brain research 2026. link 4 Miezah D, Porter M, Batchelor J, Rossi A, Reeve J. Behaviour and Psychopathology in Preschool Children with William Syndrome and the Effects of Age, Sex and Cognition. Journal of autism and developmental disorders 2026. link 5 D'Souza D, D'Souza H, Mayor J, Tovar ÁE. Explaining the Comprehension-Production Vocabulary Gap Through Neural Networks and Cross-Syndrome Evidence: Insights From Williams Syndrome. Developmental science 2026. link 6 Almería-Morena M, Romero-Rivas C. A systematic review and meta-analysis of morphosyntactic skills in Williams syndrome. Acta psychologica 2026. link 7 Sederias I, Krakovitch A, Stojanovik V, Zimmerer VC. Overuse of familiar phrases by individuals with Williams syndrome masks differences in language processing. Journal of child language 2025. link 8 Fisher MH, Black RS, Kammes RR. Using a community engaged research approach to develop the social skills training program for adults with Williams syndrome. Journal of intellectual disabilities : JOID 2025. link 9 Shin E, Ravichandran C, Renzi D, Pober BR, McDougle CJ, Thom RP. Diversity of Participants in Williams Syndrome Intervention Studies. Journal of autism and developmental disorders 2024. link 10 Algaze C, Chubb H, Deitch AM, Collins T. Electrocardiograms Do Not Detect Myocardial Ischemia in Patients With Williams Syndrome and Nonsyndromic Elastin Arteriopathy With Coronary Artery Stenosis. The American journal of cardiology 2024. link 11 Kawai C, Kondo H, Miyao M, Sunada M, Ozawa S, Kotani H et al.. Fatal cardiac dysfunction in a child with Williams syndrome. Legal medicine (Tokyo, Japan) 2024. link 12 Nguyen SN, Blitzer D, Bouhout I, Vinogradsky AV, Clapcich A, Torres A et al.. Strategies for the Surgical Management of Highly Aggressive Williams Syndrome Aortopathy: A Three Case Report. Pediatric cardiology 2024. link 13 Vavetsi K, Panagopoulou O, Koromantzos P, Fryssira Η, Bobetsis SA, Emmanouil D et al.. Oral manifestations of nine individuals with Williams syndrome. A case series. Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry 2024. link 14 Thom RP. Psychiatric and behavioral manifestations of Williams syndrome. Current opinion in psychiatry 2024. link 15 Nassisi M, Mainetti C, Sperti A, Galmozzi G, Aretti A, Leone G et al.. Optical coherence tomography angiography findings in Williams-Beuren syndrome. Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 2024. link 16 Gillooly AE, Riby DM, Durkin K, Rhodes SM. Friendships in Children with Williams Syndrome: Parent and Child Perspectives. Journal of autism and developmental disorders 2024. link 17 Kleberg JL, Riby D, Fawcett C, Björlin Avdic H, Frick MA, Brocki KC et al.. Williams syndrome: reduced orienting to other's eyes in a hypersocial phenotype. Journal of autism and developmental disorders 2023. link 18 Domínguez-García CM, Serrano-Juárez CA, Rodríguez-Camacho M, Moreno-Villagómez J, Araujo Solís MA, Prieto-Corona B. Neuropsychological intervention in attention and visuospatial skills in two patients with Williams syndrome with different types of genetic deletion. Applied neuropsychology. Child 2023. link 19 Levin MD, Cathey BM, Smith K, Osgood S, Raja N, Fu YP et al.. Heart Rate Variability Analysis May Identify Individuals With Williams-Beuren Syndrome at Risk of Sudden Death. JACC. Clinical electrophysiology 2023. link 20 Pereira RCM, Apis A, Dos Santos TR, de Avó LRDS, Pilotto RF, Germano CMR et al.. Quality of life of Brazilian families who have children with Williams syndrome. Journal of intellectual disabilities : JOID 2023. link 21 Schmitz A, Reutershahn E, Seiffert P, Das M. First description of frequent occurrence of supernumerary lumbar ribs and transitional vertebrae in children with Williams-Beuren syndrome. Pediatric radiology 2023. link 22 Trangle SS, Rosenberg T, Parnas H, Levy G, Bar E, Marco A et al.. In individuals with Williams syndrome, dysregulation of methylation in non-coding regions of neuronal and oligodendrocyte DNA is associated with pathology and cortical development. Molecular psychiatry 2023. link 23 Yeh TC, Cheng HC, Li HY, Chi SC, Yang HY, Yu JY et al.. Ophthalmic characteristics and retinal vasculature changes in Williams syndrome, and its association with systemic diseases. Eye (London, England) 2023. link 24 Huryn LA, Flaherty T, Nolen R, Prasov L, Zein WM, Cukras CA et al.. Novel ophthalmic findings and deep phenotyping in Williams-Beuren syndrome. The British journal of ophthalmology 2023. link 25 Yuan Y, Zhou R. An infant with suspected missed diagnosis of Williams syndrome failed weaning off CPB after surgical correction of pulmonary stenosis: a case report and literature review. Perfusion 2023. link 26 Serrano-Juárez CA, Prieto-Corona B, Rodríguez-Camacho M, Sandoval-Lira L, Villalva-Sánchez ÁF, Yáñez-Téllez MG et al.. Neuropsychological Genotype-Phenotype in Patients with Williams Syndrome with Atypical Deletions: A Systematic Review. Neuropsychology review 2023. link 27 Velarde-Acosta K, Baltodano-Arellano R, Cachicatari-Beltran A, Medina-Maguiña JM, Cupe-Chacaltaje K, Rojas P et al.. Williams-Beuren syndrome associated with hammock mitral valve: First case report. Echocardiography (Mount Kisco, N.Y.) 2023. link 28 Martin A, Rycus PT, Farooqi A, Dentel J, Cashen K. Extracorporeal membrane oxygenation outcomes in children with Williams syndrome: a review of the ELSO registry. Perfusion 2022. link 29 Kasdan A, Gordon RL, Lense MD. Neurophysiological Correlates of Dynamic Beat Tracking in Individuals With Williams Syndrome. Biological psychiatry. Cognitive neuroscience and neuroimaging 2022. link 30 Gal DB, Lechich KM, Jensen HK, Millett PC, Bolin E, Daily J et al.. The Sinotubular Junction-to-Aortic Annulus Ratio as a Determinant of Supravalvar Aortic Stenosis Severity. The American journal of cardiology 2022. link 31 Massol S, Caron C, Franck N, Demily C, Chainay H. Emotional modulation of episodic memory in children and adolescents with Williams-Beuren syndrome. Child neuropsychology : a journal on normal and abnormal development in childhood and adolescence 2022. link 32 Thom RP, Balaj K, Keary CJ, Pober BR, McDougle CJ. Functional Neurological Symptom Disorder in Williams Syndrome: Case Series and Review of Relevant Literature. Journal of the Academy of Consultation-Liaison Psychiatry 2022. link 33 Danneels F, Verdonck A, Indencleef K, Declerck D, Willems G, Cadenas De Llano-Pérula M. Determination of craniofacial and dental characteristics of individuals with Williams-Beuren syndrome by using 3D facial scans and radiographs. Orthodontics & craniofacial research 2022. link 34 Powell B, Van Herwegen J. Sensory Processing in Williams Syndrome: Individual differences and changes over time. Journal of autism and developmental disorders 2022. link 35 Sammour ZM, Hisano M, de Bessa J, Bruschini H, Nahas WC, Srougi M et al.. Longitudinal Improvement of Lower Urinary Tract Symptoms in Williams-Beuren Syndrome. The Journal of urology 2021. link 36 Ali MJ. Lacrimal drainage system anomalies in Williams-Beuren syndrome. Orbit (Amsterdam, Netherlands) 2021. link 37 Morris CA, Braddock SR. Health Care Supervision for Children With Williams Syndrome. Pediatrics 2020. link 38 Benítez-Burraco A. Genes dysregulated in the blood of people with Williams syndrome are enriched in protein-coding genes positively selected in humans. European journal of medical genetics 2020. link 39 Dasilva M, Navarro-Guzman A, Ortiz-Romero P, Camassa A, Muñoz-Cespedes A, Campuzano V et al.. Altered Neocortical Dynamics in a Mouse Model of Williams-Beuren Syndrome. Molecular neurobiology 2020. link 40 Yu E, Feinn R, Bona R, Brink B, Sindhar S, Kozel BA et al.. Mild macrocytosis in Williams-Beuren syndrome. European journal of medical genetics 2020. link 41 Yuan M, Deng L, Yang Y, Sun L. Intrauterine phenotype features of fetuses with Williams-Beuren syndrome and literature review. Annals of human genetics 2020. link 42 Xia Y, Huang S, Wu Y, Yang Y, Chen S, Li P et al.. Clinical application of chromosomal microarray analysis for the diagnosis of Williams-Beuren syndrome in Chinese Han patients. Molecular genetics & genomic medicine 2019. link 43 Kimura R, Swarup V, Tomiwa K, Gandal MJ, Parikshak NN, Funabiki Y et al.. Integrative network analysis reveals biological pathways associated with Williams syndrome. Journal of child psychology and psychiatry, and allied disciplines 2019. link 44 Palmieri S, Bedeschi MF, Cairoli E, Morelli V, Lunati ME, Scillitani A et al.. Bone involvement and mineral metabolism in Williams' syndrome. Journal of endocrinological investigation 2019. link 45 Matsuno S, Tsuji M, Hikita R, Matsumoto T, Baba Y, Moriyama K. Clinical study of dentocraniofacial characteristics in patients with Williams syndrome. Congenital anomalies 2019. link 46 Julian JB, Kamps FS, Epstein RA, Dilks DD. Dissociable spatial memory systems revealed by typical and atypical human development. Developmental science 2019. link 47 Hidalgo I, Gómez Vilda P, Garayzábal E. Biomechanical Description of Phonation in Children Affected by Williams Syndrome. Journal of voice : official journal of the Voice Foundation 2018. link 48 Martin LA, Iceberg E, Allaf G. Consistent hypersocial behavior in mice carrying a deletion of . Brain and behavior 2018. link 49 Lew CH, Groeniger KM, Bellugi U, Stefanacci L, Schumann CM, Semendeferi K. A postmortem stereological study of the amygdala in Williams syndrome. Brain structure & function 2018. link 50 Hanson KL, Lew CH, Hrvoj-Mihic B, Groeniger KM, Halgren E, Bellugi U et al.. Increased glia density in the caudate nucleus in williams syndrome: Implications for frontostriatal dysfunction in autism. Developmental neurobiology 2018. link 51 Ito K, Martens MA. Contrast-marking prosodic emphasis in Williams syndrome: results of detailed phonetic analysis. International journal of language & communication disorders 2017. link 52 Osório AAC, Rossi NF, Gonçalves ÓF, Sampaio A, Giacheti CM. Psychopathology and behavior problems in children and adolescents with Williams syndrome: Distinctive relationships with cognition. Child neuropsychology : a journal on normal and abnormal development in childhood and adolescence 2017. link 53 Muramatsu Y, Tokita Y, Mizuno S, Nakamura M. Disparities in visuo-spatial constructive abilities in Williams syndrome patients with typical deletion on chromosome 7q11.23. Brain & development 2017. link 54 Sammour ZM, de Bessa J, Hisano M, Bruschini H, Kim CA, Srougi M et al.. Lower urinary tract symptoms in children and adolescents with Williams-Beuren syndrome. Journal of pediatric urology 2017. link 55 Swartz JR, Waller R, Bogdan R, Knodt AR, Sabhlok A, Hyde LW et al.. A Common Polymorphism in a Williams Syndrome Gene Predicts Amygdala Reactivity and Extraversion in Healthy Adults. Biological psychiatry 2017. link 56 Wuang YP, Tsai HY. Sensorimotor and visual perceptual functioning in school-aged children with Williams syndrome. Journal of intellectual disability research : JIDR 2017. link 57 von Gontard A, Niemczyk J, Borggrefe-Moussavian S, Wagner C, Curfs L, Equit M. Incontinence in children, adolescents and adults with Williams syndrome. Neurourology and urodynamics 2016. link 58 Szaflik K, Kaźmierczak P, Moll JJ, Moll JA. Severe Congenital Obstruction of the Left Main Coronary Artery Coexisting With Supravalvular Aortic Stenosis in Williams Syndrome: A Dangerous Association. World journal for pediatric & congenital heart surgery 2016. link 59 Pérez-García D, Flores R, Brun-Gasca C, Pérez-Jurado LA. Lateral preference in Williams-Beuren syndrome is associated with cognition and language. European child & adolescent psychiatry 2015. link 60 Adamo A, Atashpaz S, Germain PL, Zanella M, D'Agostino G, Albertin V et al.. 7q11.23 dosage-dependent dysregulation in human pluripotent stem cells affects transcriptional programs in disease-relevant lineages. Nature genetics 2015. link 61 Farran EK, Dodd GF. Drawing ability in typical and atypical development; colour cues and the effect of oblique lines. Journal of intellectual disability research : JIDR 2015. link 62 Phomakay V, Gossett JM, Kaplan PB, Swearingen CJ, Collins RT. Ventricular Hypertrophy on Electrocardiogram Correlates with Obstructive Lesion Severity in Williams Syndrome. Congenital heart disease 2015. link 63 Carretti B, Lanfranchi S, De Mori L, Mammarella IC, Vianello R. Exploring spatial working memory performance in individuals with Williams syndrome: the effect of presentation format and configuration. Research in developmental disabilities 2015. link 64 Canales CP, Wong AC, Gunning PW, Housley GD, Hardeman EC, Palmer SJ. The role of GTF2IRD1 in the auditory pathology of Williams-Beuren Syndrome. European journal of human genetics : EJHG 2015. link 65 Euteneuer J, Carvalho CM, Kulkarni S, Vineyard M, Grady RM, Lupski JR et al.. Molecular and phenotypic characterization of atypical Williams-Beuren syndrome. Clinical genetics 2014. link 66 Fisher MH. Evaluation of a stranger safety training programme for adults with Williams syndrome. Journal of intellectual disability research : JIDR 2014. link 67 Feng T, Zhi-Qiang L, Ying-Long L. Single-stage surgical repair of a complex pathology in Williams syndrome. Cardiology in the young 2014. link 68 Riby DM, Kirk H, Hanley M, Riby LM. Stranger danger awareness in Williams syndrome. Journal of intellectual disability research : JIDR 2014. link 69 Lense MD, Gordon RL, Key AP, Dykens EM. Neural correlates of cross-modal affective priming by music in Williams syndrome. Social cognitive and affective neuroscience 2014. link 70 Haas BW, Sheau K, Kelley RG, Thompson PM, Reiss AL. Regionally specific increased volume of the amygdala in Williams syndrome: evidence from surface-based modeling. Human brain mapping 2014. link 71 Okamoto N, Yamagata T, Yada Y, Ichihashi K, Matsumoto N, Momoi MY et al.. Williams-Beuren syndrome with brain malformation and hypertrophic cardiomyopathy. Brain & development 2014. link 72 Janes E, Riby DM, Rodgers J. Exploring the prevalence and phenomenology of repetitive behaviours and abnormal sensory processing in children with Williams Syndrome. Journal of intellectual disability research : JIDR 2014. link 73 Haas BW, Barnea-Goraly N, Sheau KE, Yamagata B, Ullas S, Reiss AL. Altered microstructure within social-cognitive brain networks during childhood in Williams syndrome. Cerebral cortex (New York, N.Y. : 1991) 2014. link 74 Pieles GE, Ofoe V, Morgan GJ. Severe left main coronary artery stenosis with abnormal branching pattern in a patient with mild supravalvar aortic stenosis and Williams-Beuren syndrome. Congenital heart disease 2014. link 75 Hoffmann A, Martens MA, Fox R, Rabidoux P, Andridge R. Pragmatic language assessment in Williams syndrome: a comparison of the Test of Pragmatic Language-2 and the Children's Communication Checklist-2. American journal of speech-language pathology 2013. link) 76 Viana MM, Frasson M, Leão LL, Stofanko M, Gonçalves-Dornelas H, Cunha Pda S et al.. A new case of keratoconus associated with Williams-Beuren syndrome. Ophthalmic genetics 2013. link 77 Sampaio A, Bouix S, Sousa N, Vasconcelos C, Férnandez M, Shenton ME et al.. Morphometry of corpus callosum in Williams syndrome: shape as an index of neural development. Brain structure & function 2013. link 78 Dixit A, McKee S, Mansour S, Mehta SG, Tanteles GA, Anastasiadou V et al.. 7q11.23 Microduplication: a recognizable phenotype. Clinical genetics 2013. link 79 Dessalegn B, Landau B, Rapp B. Consequences of severe visual-spatial deficits for reading acquisition: evidence from Williams syndrome. Neurocase 2013. link 80 Martínez-Castilla P, Sotillo M, Campos R. Do individuals with Williams syndrome possess absolute pitch?. Child neuropsychology : a journal on normal and abnormal development in childhood and adolescence 2013. link 81 Costanzo F, Vicari S, Carlesimo GA. Familiarity and recollection in Williams syndrome. Cortex; a journal devoted to the study of the nervous system and behavior 2013. link 82 Lense M, Dykens E. Musical learning in children and adults with Williams syndrome. Journal of intellectual disability research : JIDR 2013. link 83 Nakamura M, Watanabe S, Inagaki M, Hirai M, Miki K, Honda Y et al.. Electrophysiological study of face inversion effects in Williams syndrome. Brain & development 2013. link 84 Makeyev AV, Bayarsaihan D. ChIP-Chip Identifies SEC23A, CFDP1, and NSD1 as TFII-I Target Genes in Human Neural Crest Progenitor Cells. The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2013. link 85 Kinnear C, Chang WY, Khattak S, Hinek A, Thompson T, de Carvalho Rodrigues D et al.. Modeling and rescue of the vascular phenotype of Williams-Beuren syndrome in patient induced pluripotent stem cells. Stem cells translational medicine 2013. link 86 Barozzi S, Soi D, Gagliardi C, Selicorni A, Bedeschi MF, Forti S et al.. Balance function in patients with Williams syndrome. Gait & posture 2013. link 87 Howard ML, Palmer SJ, Taylor KM, Arthurson GJ, Spitzer MW, Du X et al.. Mutation of Gtf2ird1 from the Williams-Beuren syndrome critical region results in facial dysplasia, motor dysfunction, and altered vocalisations. Neurobiology of disease 2012. link 88 Fishman I, Ng R, Bellugi U. Neural processing of race by individuals with Williams syndrome: do they show the other-race effect? (And why it matters). Social neuroscience 2012. link 89 Stinton C, Tomlinson K, Estes Z. Examining reports of mental health in adults with Williams syndrome. Research in developmental disabilities 2012. link 90 Fahim C, Yoon U, Nashaat NH, Khalil AK, El-Belbesy M, Mancini-Marie A et al.. Williams syndrome: a relationship between genetics, brain morphology and behaviour. Journal of intellectual disability research : JIDR 2012. link 91 Green T, Avda S, Dotan I, Zarchi O, Basel-Vanagaite L, Zalsman G et al.. Phenotypic psychiatric characterization of children with Williams syndrome and response of those with ADHD to methylphenidate treatment. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2012. link 92 Naylor L, Van Herwegen J. The production of figurative language in typically developing children and Williams Syndrome. Research in developmental disabilities 2012. link 93 Cowie D, Braddick O, Atkinson J. Visually guided step descent in children with Williams syndrome. Developmental science 2012. link 94 Bódizs R, Gombos F, Kovács I. Sleep EEG fingerprints reveal accelerated thalamocortical oscillatory dynamics in Williams syndrome. Research in developmental disabilities 2012. link 95 Haas BW, Hoeft F, Barnea-Goraly N, Golarai G, Bellugi U, Reiss AL. Preliminary evidence of abnormal white matter related to the fusiform gyrus in Williams syndrome: a diffusion tensor imaging tractography study. Genes, brain, and behavior 2012. link 96 Avery SN, Thornton-Wells TA, Anderson AW, Blackford JU. White matter integrity deficits in prefrontal-amygdala pathways in Williams syndrome. NeuroImage 2012. link 97 Papaeliou C, Polemikos N, Fryssira E, Kodakos A, Kaila M, Yiota X et al.. Behavioural profile and maternal stress in Greek young children with Williams syndrome. Child: care, health and development 2012. link 98 Lenhoff HM, Teele RL, Clarkson PM, Berdon WE. John C. P. Williams of Williams-Beuren syndrome. Pediatric radiology 2011. link 99 Gombos F, Bódizs R, Kovács I. Atypical sleep architecture and altered EEG spectra in Williams syndrome. Journal of intellectual disability research : JIDR 2011. link 100 Makeyev AV, Bayarsaihan D. Molecular basis of Williams-Beuren syndrome: TFII-I regulated targets involved in craniofacial development. The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2011. link

    Original source

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      Resting Energy Expenditure in Adults With Williams Syndrome: Comparative Accuracy of Predictive Equations. — Renzi DB, Garry J, Hubbard J, Nordstrøm M, Fitch KV, Stanley TL et al. Journal of intellectual disability research : JIDR (2026)
    2. [2]
      Ophthalmic features of 218 children with Williams syndrome in china: A single-center retrospective study. — Fang J, Yuan L, Kang D, Yu R, Chen W, Shen J et al. Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie (2026)
    3. [3]
      Lack of Williams syndrome-associated genes alters quantity discrimination in zebrafish. — Torres-Pérez JV, Anagianni S, Sheardown E, Miletto-Petrazzini ME, Fraser SE, Butterworth B et al. Behavioural brain research (2026)
    4. [4]
      Behaviour and Psychopathology in Preschool Children with William Syndrome and the Effects of Age, Sex and Cognition. — Miezah D, Porter M, Batchelor J, Rossi A, Reeve J Journal of autism and developmental disorders (2026)
    5. [5]
      Explaining the Comprehension-Production Vocabulary Gap Through Neural Networks and Cross-Syndrome Evidence: Insights From Williams Syndrome. — D'Souza D, D'Souza H, Mayor J, Tovar ÁE Developmental science (2026)
    6. [6]
      A systematic review and meta-analysis of morphosyntactic skills in Williams syndrome. — Almería-Morena M, Romero-Rivas C Acta psychologica (2026)
    7. [7]
      Overuse of familiar phrases by individuals with Williams syndrome masks differences in language processing. — Sederias I, Krakovitch A, Stojanovik V, Zimmerer VC Journal of child language (2025)
    8. [8]
      Using a community engaged research approach to develop the social skills training program for adults with Williams syndrome. — Fisher MH, Black RS, Kammes RR Journal of intellectual disabilities : JOID (2025)
    9. [9]
      Diversity of Participants in Williams Syndrome Intervention Studies. — Shin E, Ravichandran C, Renzi D, Pober BR, McDougle CJ, Thom RP Journal of autism and developmental disorders (2024)
    10. [10]
      Electrocardiograms Do Not Detect Myocardial Ischemia in Patients With Williams Syndrome and Nonsyndromic Elastin Arteriopathy With Coronary Artery Stenosis. — Algaze C, Chubb H, Deitch AM, Collins T The American journal of cardiology (2024)
    11. [11]
      Fatal cardiac dysfunction in a child with Williams syndrome. — Kawai C, Kondo H, Miyao M, Sunada M, Ozawa S, Kotani H et al. Legal medicine (Tokyo, Japan) (2024)
    12. [12]
      Strategies for the Surgical Management of Highly Aggressive Williams Syndrome Aortopathy: A Three Case Report. — Nguyen SN, Blitzer D, Bouhout I, Vinogradsky AV, Clapcich A, Torres A et al. Pediatric cardiology (2024)
    13. [13]
      Oral manifestations of nine individuals with Williams syndrome. A case series. — Vavetsi K, Panagopoulou O, Koromantzos P, Fryssira Η, Bobetsis SA, Emmanouil D et al. Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry (2024)
    14. [14]
      Psychiatric and behavioral manifestations of Williams syndrome. — Thom RP Current opinion in psychiatry (2024)
    15. [15]
      Optical coherence tomography angiography findings in Williams-Beuren syndrome. — Nassisi M, Mainetti C, Sperti A, Galmozzi G, Aretti A, Leone G et al. Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie (2024)
    16. [16]
      Friendships in Children with Williams Syndrome: Parent and Child Perspectives. — Gillooly AE, Riby DM, Durkin K, Rhodes SM Journal of autism and developmental disorders (2024)
    17. [17]
      Williams syndrome: reduced orienting to other's eyes in a hypersocial phenotype. — Kleberg JL, Riby D, Fawcett C, Björlin Avdic H, Frick MA, Brocki KC et al. Journal of autism and developmental disorders (2023)
    18. [18]
      Neuropsychological intervention in attention and visuospatial skills in two patients with Williams syndrome with different types of genetic deletion. — Domínguez-García CM, Serrano-Juárez CA, Rodríguez-Camacho M, Moreno-Villagómez J, Araujo Solís MA, Prieto-Corona B Applied neuropsychology. Child (2023)
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      Heart Rate Variability Analysis May Identify Individuals With Williams-Beuren Syndrome at Risk of Sudden Death. — Levin MD, Cathey BM, Smith K, Osgood S, Raja N, Fu YP et al. JACC. Clinical electrophysiology (2023)
    20. [20]
      Quality of life of Brazilian families who have children with Williams syndrome. — Pereira RCM, Apis A, Dos Santos TR, de Avó LRDS, Pilotto RF, Germano CMR et al. Journal of intellectual disabilities : JOID (2023)
    21. [21]
      First description of frequent occurrence of supernumerary lumbar ribs and transitional vertebrae in children with Williams-Beuren syndrome. — Schmitz A, Reutershahn E, Seiffert P, Das M Pediatric radiology (2023)
    22. [22]
      In individuals with Williams syndrome, dysregulation of methylation in non-coding regions of neuronal and oligodendrocyte DNA is associated with pathology and cortical development. — Trangle SS, Rosenberg T, Parnas H, Levy G, Bar E, Marco A et al. Molecular psychiatry (2023)
    23. [23]
      Ophthalmic characteristics and retinal vasculature changes in Williams syndrome, and its association with systemic diseases. — Yeh TC, Cheng HC, Li HY, Chi SC, Yang HY, Yu JY et al. Eye (London, England) (2023)
    24. [24]
      Novel ophthalmic findings and deep phenotyping in Williams-Beuren syndrome. — Huryn LA, Flaherty T, Nolen R, Prasov L, Zein WM, Cukras CA et al. The British journal of ophthalmology (2023)
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      An infant with suspected missed diagnosis of Williams syndrome failed weaning off CPB after surgical correction of pulmonary stenosis: a case report and literature review. — Yuan Y, Zhou R Perfusion (2023)
    26. [26]
      Neuropsychological Genotype-Phenotype in Patients with Williams Syndrome with Atypical Deletions: A Systematic Review. — Serrano-Juárez CA, Prieto-Corona B, Rodríguez-Camacho M, Sandoval-Lira L, Villalva-Sánchez ÁF, Yáñez-Téllez MG et al. Neuropsychology review (2023)
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      Williams-Beuren syndrome associated with hammock mitral valve: First case report. — Velarde-Acosta K, Baltodano-Arellano R, Cachicatari-Beltran A, Medina-Maguiña JM, Cupe-Chacaltaje K, Rojas P et al. Echocardiography (Mount Kisco, N.Y.) (2023)
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      Extracorporeal membrane oxygenation outcomes in children with Williams syndrome: a review of the ELSO registry. — Martin A, Rycus PT, Farooqi A, Dentel J, Cashen K Perfusion (2022)
    29. [29]
      Neurophysiological Correlates of Dynamic Beat Tracking in Individuals With Williams Syndrome. — Kasdan A, Gordon RL, Lense MD Biological psychiatry. Cognitive neuroscience and neuroimaging (2022)
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      The Sinotubular Junction-to-Aortic Annulus Ratio as a Determinant of Supravalvar Aortic Stenosis Severity. — Gal DB, Lechich KM, Jensen HK, Millett PC, Bolin E, Daily J et al. The American journal of cardiology (2022)
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      Emotional modulation of episodic memory in children and adolescents with Williams-Beuren syndrome. — Massol S, Caron C, Franck N, Demily C, Chainay H Child neuropsychology : a journal on normal and abnormal development in childhood and adolescence (2022)
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