Strømme P, Bjømstad PG, Ramstad K. Prevalence estimation of Williams syndrome. J Child Neurol. 2002;17:269–71. https://doi.org/10.1177/088307380201700406.

Article  PubMed  Google Scholar 

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. Neuropsychol Rev. 2023;33:891–911. https://doi.org/10.1007/s11065-022-09571-2.

Article  PubMed  Google Scholar 

Gillooly AE, Riby DM, Durkin K, Rhodes SM. Friendships in children with Williams syndrome: parent and child perspectives. J Autism Dev Disord. 2024;54:509–17. https://doi.org/10.1007/s10803-022-05807-5.

Article  PubMed  Google Scholar 

Klein-Tasman BP, Mervis CB. Distinctive personality characteristics of 8-, 9-, and 10-year-olds with Williams syndrome. Dev Neuropsychol. 2003;23:269–90. https://doi.org/10.1080/87565641.2003.9651895.

Article  PubMed  Google Scholar 

Thom RP. Psychiatric and behavioral manifestations of Williams syndrome. Curr Opin Psychiatry. 2024;37:65–70. https://doi.org/10.1097/YCO.0000000000000914.

Article  PubMed  Google Scholar 

Tomc SA, Williamson NK, Pauli RM. Temperament in Williams syndrome. Am J Med Genet. 1990;36:345–52. https://doi.org/10.1002/ajmg.1320360321.

Article  CAS  PubMed  Google Scholar 

Dodd HF, Porter MA. Psychopathology in Williams syndrome: the effect of individual differences across the life span. J Ment Health Res Intellect Disabil. 2009;2:89–109. https://doi.org/10.1080/19315860902725867.

Article  Google Scholar 

Dykens EM. Anxiety, fears, and phobias in persons with Williams syndrome. Dev Neuropsychol. 2003;23:291–316. https://doi.org/10.1080/87565641.2003.9651896.

Article  PubMed  Google Scholar 

Kennedy J, Kaye D, Sadler L. Psychiatric diagnoses in patients with Williams syndrome and their families. Jefferson J Psychiatry. 2006;20:22–31. https://doi.org/10.29046/JJP.020.1.003.

Article  Google Scholar 

Leyfer OT, Woodruff‐Borden J, Klein‐Tasman BP, Fricke JS, Mervis CB. Prevalence of psychiatric disorders in 4 to 16‐year‐olds with Williams syndrome. Am J Med Genet B Neuropsychiatr Genet. 2006;141B:615–22. https://doi.org/10.1002/ajmg.b.30344.

Article  PubMed  PubMed Central  Google Scholar 

Ng R, Järvinen A, Bellugi U. Toward a deeper characterization of the social phenotype of Williams syndrome: the association between personality and social drive. Res Dev Disabil. 2014;35:1838–49. https://doi.org/10.1016/j.ridd.2014.04.015.

Article  PubMed  PubMed Central  Google Scholar 

Royston R, Howlin P, Waite J, Oliver C. Anxiety disorders in Williams syndrome contrasted with intellectual disability and the general population: a systematic review and meta-analysis. J Autism Dev Disord. 2017;47:3765–77. https://doi.org/10.1007/s10803-016-2909-z.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Sideropoulos V, Sokhn N, Palikara O, Van Herwegen J, Samson AC. Anxiety, concerns and emotion regulation in individuals with Williams syndrome and Down syndrome during the COVID-19 outbreak: a global study. Sci Rep. 2023;13:8177. https://doi.org/10.1038/s41598-023-35176-7.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Elsabbagh M, Cohen H, Cohen M, Rosen S, Karmiloff‐Smith A. Severity of hyperacusis predicts individual differences in speech perception in Williams syndrome. J Intellect Disabil Res. 2011;55:563–71. https://doi.org/10.1111/j.1365-2788.2011.01411.x.

Article  CAS  PubMed  Google Scholar 

Gothelf D, Farber N, Raveh E, Apter A, Attias J. Hyperacusis in Williams syndrome: characteristics and associated neuroaudiologic abnormalities. Neurology. 2006;66:390–5. https://doi.org/10.1212/01.wnl.0000196643.35395.5f.

Article  CAS  PubMed  Google Scholar 

Johnson LB, Comeau M, Clarke KD. Hyperacusis in Williams syndrome. J Otolaryngol. 2001;30:090. https://doi.org/10.2310/7070.2001.20811.

Article  CAS  Google Scholar 

Zarchi O, Avni C, Attias J, Frisch A, Carmel M, Michaelovsky E, et al. Hyperactive auditory processing in Williams syndrome: evidence from auditory evoked potentials. Psychophysiology. 2015;52:782–9. https://doi.org/10.1111/psyp.12407.

Article  PubMed  Google Scholar 

Renzi D, Stanley T, Waxler J, Lee H, Pober B, Nordstrom M. Body mass index variation in adults with Williams syndrome: associations with predicted dietary intake and food behaviors. Food Nutr Res. 2023;67:9321. https://doi.org/10.29219/fnr.v67.9321.

Article  CAS  Google Scholar 

Bellugi U, Lichtenberger L, Jones W, Lai Z, St. George MI. The neurocognitive profile of Williams syndrome: a complex pattern of strengths and weaknesses. J Cogn Neurosci. 2000;12(Suppl 1):7–29. https://doi.org/10.1162/089892900561959.

Article  PubMed  Google Scholar 

Martens MA, Wilson SJ, Reutens DC. Research review: Williams syndrome: a critical review of the cognitive, behavioral, and neuroanatomical phenotype. J Child Psychol Psychiatry. 2008;49:576–608. https://doi.org/10.1111/j.1469-7610.2008.01887.x.

Article  PubMed  Google Scholar 

Farran EK, Jarrold C. Visuospatial cognition in Williams syndrome: reviewing and accounting for the strengths and weaknesses in performance. Dev Neuropsychol. 2003;23:173–200. https://doi.org/10.1080/87565641.2003.9651891.

Article  PubMed  Google Scholar 

Ito Y, Ito T, Kurahashi N, Ochi N, Noritake K, Sugiura H, et al. Gait characteristics of children with Williams syndrome with impaired visuospatial recognition: a three-dimensional gait analysis study. Exp Brain Res. 2020;238:2887–95. https://doi.org/10.1007/s00221-020-05946-0.

Article  PubMed  Google Scholar 

Meyer-Lindenberg A, Kohn P, Mervis CB, Kippenhan JS, Olsen RK, Morris CA, et al. Neural basis of genetically determined visuospatial construction deficit in Williams syndrome. Neuron. 2004;43:623–31. https://doi.org/10.1016/j.neuron.2004.08.014.

Article  CAS  PubMed  Google Scholar 

Wuang YP, Tsai HY. Sensorimotor and visual perceptual functioning in school‐aged children with Williams syndrome. J Intellect Disabil Res. 2017;61:348–62. https://doi.org/10.1111/jir.12346.

Article  PubMed  Google Scholar 

Berencsi A, Gombos F, Kovács I. Capacity to improve fine motor skills in Williams syndrome. J Intellect Disabil Res. 2016;60:956–68. https://doi.org/10.1111/jir.12317.

Article  CAS  PubMed  Google Scholar 

Thom RP, Canales C, Tresvalles M, McDougle CJ, Hooker JM, Chen Y, et al. Neuroimaging research in Williams syndrome: beginning to bridge the gap with clinical care. Neurosci Biobehav Rev. 2023;153:105364. https://doi.org/10.1016/j.neubiorev.2023.105364.

Article  PubMed  Google Scholar 

Chiang M-C, Reiss AL, Lee AD, Bellugi U, Galaburda AM, Korenberg JR, et al. 3D pattern of brain abnormalities in Williams syndrome visualized using tensor-based morphometry. Neuroimage. 2007;36:1096–109. https://doi.org/10.1016/j.neuroimage.2007.04.024.

Article  PubMed  PubMed Central  Google Scholar 

Osório A, Soares JM, Prieto MF, Vasconcelos C, Fernandes C, Sousa S, et al. Cerebral and cerebellar MRI volumes in williams syndrome. Res Dev Disabil. 2014;35:922–8. https://doi.org/10.1016/j.ridd.2013.12.014.

Article  PubMed  Google Scholar 

Reiss AL, Eliez S, Schmitt JE, Straus E, Lai Z, Jones W, et al. IV. Neuroanatomy of Williams syndrome: a high-resolution MRI study. J Cogn Neurosci. 2000;12(Suppl 1):65–73. https://doi.org/10.1162/089892900561986.

Article  PubMed  Google Scholar 

Meda SA, Pryweller JR, Thornton-Wells TA. Regional brain differences in cortical thickness, surface area and subcortical volume in individuals with Williams syndrome. PLoS ONE. 2012;7:e31913. https://doi.org/10.1371/journal.pone.0031913.

Article  CAS  PubMed  PubMed Central