{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T16:42:42Z","timestamp":1790700162079,"version":"4.1.0"},"reference-count":60,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,3,1]],"date-time":"2024-03-01T00:00:00Z","timestamp":1709251200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,3,1]],"date-time":"2024-03-01T00:00:00Z","timestamp":1709251200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100009480","name":"Stichting Vrienden van het Sophia","doi-asserted-by":"publisher","award":["B17-04A"],"award-info":[{"award-number":["B17-04A"]}],"id":[{"id":"10.13039\/501100009480","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Stichting De Merel"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Neurodevelop Disord"],"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Angelman syndrome (AS) is a rare neurodevelopmental disorder characterized by severe intellectual disability, little to no expressive speech, visual and motor problems, emotional\/behavioral challenges, and a tendency towards hyperphagia and weight gain. The characteristics of AS make it difficult to measure these children\u2019s functioning with standard clinical tests. Feasible outcome measures are needed to measure current functioning and change over time, in clinical practice and clinical trials.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Aim<\/jats:title>\n                <jats:p>Our first aim is to assess the feasibility of several functional tests. We target domains of neurocognitive functioning and physical growth using the following measurement methods: eye-tracking, functional Near-Infrared Spectroscopy (fNIRS), indirect calorimetry, bio-impedance analysis (BIA), and BOD POD (air-displacement plethysmography). Our second aim is to explore the results of the above measures, in order to better understand the AS phenotype.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Methods<\/jats:title>\n                <jats:p>The study sample consisted of 28 children with AS aged 2\u201318\u00a0years. We defined an outcome measure as feasible when (1) at least 70% of participants successfully finished the measurement and (2) at least 60% of those participants had acceptable data quality. Adaptations to the test procedure and reasons for early termination were noted. Parents rated acceptability and importance and were invited to make recommendations to increase feasibility. The results of the measures were explored.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>Outcome measures obtained with eye-tracking and BOD POD met the definition of feasibility, while fNIRS, indirect calorimetry, and BIA did not. The most important reasons for early termination of measurements were showing signs of protest, inability to sit still and poor\/no calibration (eye-tracking specific). Post-calibration was often applied to obtain valid eye-tracking results. Parents rated the BOD POD als most acceptable and fNIRS as least acceptable for their child. All outcome measures were rated to be important. Exploratory results indicated longer reaction times to high salient visual stimuli (eye-tracking) as well as high body fat percentage (BOD POD).<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>Eye-tracking and BOD POD are feasible measurement methods for children with AS. Eye-tracking was successfully used to assess visual orienting functions in the current study and (with some practical adaptations) can potentially be used to assess other outcomes as well. BOD POD was successfully used to examine body composition.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Trial registration<\/jats:title>\n                <jats:p>Registered d.d. 23-04-2020 under number \u2018NL8550\u2019 in the Dutch Trial Register: <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" ext-link-type=\"uri\" xlink:href=\"https:\/\/onderzoekmetmensen.nl\/en\/trial\/23075\">https:\/\/onderzoekmetmensen.nl\/en\/trial\/23075<\/jats:ext-link><\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s11689-024-09516-1","type":"journal-article","created":{"date-parts":[[2024,3,1]],"date-time":"2024-03-01T11:01:57Z","timestamp":1709290917000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Outcome measures in Angelman syndrome"],"prefix":"10.1186","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0009-0004-9274-6316","authenticated-orcid":false,"given":"Doesjka A.","family":"Hagenaar","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen G. C. B.","family":"Bindels-de Heus","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maud M.","family":"van Gils","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Louise","family":"van den Berg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leontine W.","family":"ten Hoopen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philine","family":"Affourtit","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johan J. M.","family":"Pel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Koen F. M.","family":"Joosten","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manon H. J.","family":"Hillegers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henri\u00ebtte A.","family":"Moll","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-Claire Y.","family":"de Wit","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gwen C.","family":"Dieleman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabine E.","family":"Mous","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,3,1]]},"reference":[{"issue":"5","key":"9516_CR1","doi-asserted-by":"publisher","first-page":"413","DOI":"10.1002\/ajmg.a.31074","volume":"140A","author":"CA Williams","year":"2006","unstructured":"Williams CA, Beaudet AL, Clayton-Smith J, Knoll JH, Kyllerman M, Laan LA, et al. Angelman syndrome 2005: updated consensus for diagnostic criteria. Am J Med Genet A. 2006;140A(5):413\u20138.","journal-title":"Am J Med Genet A"},{"key":"9516_CR2","doi-asserted-by":"publisher","first-page":"834","DOI":"10.1136\/jmg.38.12.834","volume":"38","author":"AC Lossie","year":"2001","unstructured":"Lossie AC, Whitney MM, Amidon D, Dong HJ, Chen P, Theriaque D, et al. Distinct phenotypes distinguish the molecular classes of Angelman syndrome. J Med Genet. 2001;38:834\u201345.","journal-title":"J Med Genet"},{"key":"9516_CR3","unstructured":"ClinicalTrials.gov. Identifier NCT04259281, a study of the safety and tolerability of GTX-102 in children with Angelman syndrome. Bethesda: National Library of Medicine (US); 2006; [about 6 screens]. Available from: https:\/\/classic.clinicaltrials.gov\/ct2\/show\/NCT04259281. Cited 2023 Jun 28."},{"issue":"15","key":"9516_CR4","doi-asserted-by":"publisher","first-page":"e145991","DOI":"10.1172\/jci.insight.145991","volume":"6","author":"C Milazzo","year":"2021","unstructured":"Milazzo C, Mientjes EJ, Wallaard I, Rasmussen SV, Erichsen KD, Kakunuri T, et al. Antisense oligonucleotide treatment rescues UBE3A expression and multiple phenotypes of an Angelman syndrome mouse model. JCI Insight. 2021;6(15):e145991.","journal-title":"JCI Insight"},{"issue":"1","key":"9516_CR5","doi-asserted-by":"publisher","first-page":"97","DOI":"10.1007\/s40271-018-0323-7","volume":"12","author":"JC Grieco","year":"2019","unstructured":"Grieco JC, Romero B, Flood E, Cabo R, Visootsak J. A conceptual model of Angelman syndrome and review of relevant clinical outcomes assessments (COAs). Patient. 2019;12(1):97\u2013112.","journal-title":"Patient"},{"issue":"1","key":"9516_CR6","doi-asserted-by":"publisher","first-page":"22","DOI":"10.1186\/s11689-023-09494-w","volume":"15","author":"J Tjeertes","year":"2023","unstructured":"Tjeertes J, Bacino CA, Bichell TJ, Bird LM, Bustamante M, Crean R, et al. Enabling endpoint development for interventional clinical trials in individuals with Angelman syndrome: a prospective, longitudinal, observational clinical study (FREESIAS). J Neurodev Disord. 2023;15(1):22.","journal-title":"J Neurodev Disord"},{"issue":"8\u20139","key":"9516_CR7","doi-asserted-by":"publisher","first-page":"717","DOI":"10.1111\/jir.12955","volume":"66","author":"CM Kraan","year":"2022","unstructured":"Kraan CM, Date P, Rattray A, Sangeux M, Bui QM, Baker EK, et al. Feasibility of wearable technology for \u2018real-world\u2019 gait analysis in children with Prader-Willi and Angelman syndromes. J Intellect Disabil Res. 2022;66(8\u20139):717\u201325.","journal-title":"J Intellect Disabil Res"},{"issue":"7","key":"9516_CR8","doi-asserted-by":"publisher","first-page":"1711","DOI":"10.1002\/ajmg.a.63192","volume":"191","author":"J Duis","year":"2023","unstructured":"Duis J, Skinner A, Carson R, Gouelle A, Annoussamy M, Silverman JL, et al. Quantitative measures of motor development in Angelman syndrome. Am J Med Genet A. 2023;191(7):1711\u201321.","journal-title":"Am J Med Genet A"},{"issue":"2","key":"9516_CR9","doi-asserted-by":"publisher","first-page":"203","DOI":"10.1177\/1550059420973095","volume":"54","author":"LA Martinez","year":"2023","unstructured":"Martinez LA, Born HA, Harris S, Regnier-Golanov A, Grieco JC, Weeber EJ, et al. Quantitative EEG analysis in Angelman syndrome: candidate method for assessing therapeutics. Clin EEG Neurosci. 2023;54(2):203\u201312.","journal-title":"Clin EEG Neurosci"},{"key":"9516_CR10","doi-asserted-by":"publisher","first-page":"104444","DOI":"10.1016\/j.ridd.2023.104444","volume":"135","author":"K Bindels-de Heus","year":"2023","unstructured":"Bindels-de Heus K, Hooven-Radstaake MT, Legerstee JS, Hoopen LWT, AS EEf, Dieleman GC, et al. Sleep problems in children with Angelman syndrome: the effect of a behavioral intervention program. Res Dev Disabil. 2023;135:104444.","journal-title":"Res Dev Disabil"},{"issue":"1","key":"9516_CR11","doi-asserted-by":"publisher","first-page":"e49","DOI":"10.1111\/jar.12305","volume":"31","author":"JC Grieco","year":"2018","unstructured":"Grieco JC, Bahr RH, Schoenberg MR, Conover L, Mackie LN, Weeber EJ. Quantitative measurement of communication ability in children with Angelman syndrome. J Appl Res Intellect Disabil. 2018;31(1):e49\u201358.","journal-title":"J Appl Res Intellect Disabil"},{"issue":"3","key":"9516_CR12","doi-asserted-by":"publisher","first-page":"204","DOI":"10.1352\/1944-7558-128.3.204","volume":"128","author":"CK Zigler","year":"2023","unstructured":"Zigler CK, Lin L, McFatrich M, Lucas N, Gordon KL, Jones HN, Berent A, Panagoulias J, Evans P, Reeve BB. Validation of the observer-reported communication ability (ORCA) measure for individuals with Angelman syndrome. Am J Intellect Dev Disabil. 2023;128(3):204\u201318.","journal-title":"Am J Intellect Dev Disabil"},{"key":"9516_CR13","doi-asserted-by":"publisher","first-page":"88","DOI":"10.1016\/j.ridd.2017.06.011","volume":"68","author":"MP Hong","year":"2017","unstructured":"Hong MP, Guilfoyle JL, Mooney LN, Wink LK, Pedapati EV, Shaffer RC, et al. Eye gaze and pupillary response in Angelman syndrome. Res Dev Disabil. 2017;68:88\u201394.","journal-title":"Res Dev Disabil"},{"issue":"1","key":"9516_CR14","doi-asserted-by":"publisher","first-page":"3375","DOI":"10.1038\/s41598-023-30199-6","volume":"13","author":"S Micheletti","year":"2023","unstructured":"Micheletti S, Vivanti G, Renzetti S, Lanaro MP, Martelli P, Calza S, et al. Social attention and social-emotional modulation of attention in Angelman syndrome: an eye-tracking study. Sci Rep. 2023;13(1):3375.","journal-title":"Sci Rep"},{"key":"9516_CR15","doi-asserted-by":"publisher","first-page":"106272","DOI":"10.1016\/j.jcomdis.2022.106272","volume":"100","author":"AP Key","year":"2022","unstructured":"Key AP, Roth S, Venker C. Spoken language comprehension in children and adults with Angelman Syndrome. J Commun Disord. 2022;100:106272.","journal-title":"J Commun Disord"},{"key":"9516_CR16","doi-asserted-by":"crossref","unstructured":"Kooiker MJ, Pel JJ, van der Steen-Kant SP, van der Steen J. A method to quantify visual information processing in children using eye tracking. J Vis Exp. 2016(113):e54031 [Online].","DOI":"10.3791\/54031-v"},{"issue":"2","key":"9516_CR17","doi-asserted-by":"publisher","first-page":"117","DOI":"10.1016\/j.braindev.2022.10.003","volume":"45","author":"J Galli","year":"2023","unstructured":"Galli J, Loi E, Strobio C, Micheletti S, Martelli P, Merabet LB, et al. Neurovisual profile in children affected by Angelman syndrome. Brain Dev. 2023;45(2):117\u201325.","journal-title":"Brain Dev"},{"key":"9516_CR18","doi-asserted-by":"publisher","first-page":"414","DOI":"10.1016\/0166-2236(83)90190-X","volume":"6","author":"M Mishkin","year":"1983","unstructured":"Mishkin M, Ungerleider LG, Macko KA. Object vision and spatial vision: two cortical pathways. Trends Neurosci. 1983;6:414\u20137.","journal-title":"Trends Neurosci"},{"issue":"5","key":"9516_CR19","doi-asserted-by":"publisher","first-page":"550","DOI":"10.1080\/15250000903144199","volume":"14","author":"T Gliga","year":"2009","unstructured":"Gliga T, Elsabbagh M, Andravizou A, Johnson MH. Faces attract infants\u2019 attention in complex displays. Infancy. 2009;14(5):550\u201362.","journal-title":"Infancy"},{"issue":"5","key":"9516_CR20","doi-asserted-by":"publisher","first-page":"889","DOI":"10.3174\/ajnr.A6531","volume":"41","author":"HM Yoon","year":"2020","unstructured":"Yoon HM, Jo Y, Shim WH, Lee JS, Ko TS, Koo JH, et al. Disrupted functional and structural connectivity in Angelman syndrome. AJNR Am J Neuroradiol. 2020;41(5):889\u201397.","journal-title":"AJNR Am J Neuroradiol"},{"issue":"1","key":"9516_CR21","doi-asserted-by":"publisher","first-page":"829","DOI":"10.1038\/s41598-017-00965-4","volume":"7","author":"Y Gu","year":"2017","unstructured":"Gu Y, Miao S, Han J, Zeng K, Ouyang G, Yang J, et al. Complexity analysis of fNIRS signals in ADHD children during working memory task. Sci Rep. 2017;7(1):829.","journal-title":"Sci Rep"},{"key":"9516_CR22","doi-asserted-by":"publisher","first-page":"41","DOI":"10.1016\/j.ijpsycho.2019.01.003","volume":"137","author":"F Zhang","year":"2019","unstructured":"Zhang F, Roeyers H. Exploring brain functions in autism spectrum disorder: a systematic review on functional near-infrared spectroscopy (fNIRS) studies. Int J Psychophysiol. 2019;137:41\u201353.","journal-title":"Int J Psychophysiol"},{"issue":"11","key":"9516_CR23","doi-asserted-by":"publisher","first-page":"2099","DOI":"10.1016\/j.clinph.2017.08.009","volume":"128","author":"JA Kable","year":"2017","unstructured":"Kable JA, Coles CD. Prefrontal cortical responses in children with prenatal alcohol-related neurodevelopmental impairment: a functional near-infrared spectroscopy study. Clin Neurophysiol. 2017;128(11):2099\u2013109.","journal-title":"Clin Neurophysiol"},{"issue":"Pt 1","key":"9516_CR24","doi-asserted-by":"publisher","first-page":"272","DOI":"10.1016\/j.neuroimage.2013.04.080","volume":"85","author":"M Imai","year":"2014","unstructured":"Imai M, Watanabe H, Yasui K, Kimura Y, Shitara Y, Tsuchida S, et al. Functional connectivity of the cortex of term and preterm infants and infants with Down\u2019s syndrome. Neuroimage. 2014;85(Pt 1):272\u20138.","journal-title":"Neuroimage"},{"issue":"4","key":"9516_CR25","doi-asserted-by":"publisher","first-page":"986","DOI":"10.1111\/j.1467-8624.2009.01312.x","volume":"80","author":"S Lloyd-Fox","year":"2009","unstructured":"Lloyd-Fox S, Volein A, Blasi A, Everdell NL, Elwell C, Johnson MH. Social perception in infancy: a near infrared spectroscopy study. Child Dev. 2009;80(4):986\u201399.","journal-title":"Child Dev"},{"issue":"3","key":"9516_CR26","doi-asserted-by":"publisher","first-page":"317","DOI":"10.1080\/17470919.2011.614696","volume":"7","author":"S Lloyd-Fox","year":"2012","unstructured":"Lloyd-Fox S, Blasi A, Mercure E, Elwell CE, Johnson MH. The emergence of cerebral specialization for the human voice over the first months of life. Soc Neurosci. 2012;7(3):317\u201330.","journal-title":"Soc Neurosci"},{"issue":"1758","key":"9516_CR27","first-page":"20123026","volume":"280","author":"S Lloyd-Fox","year":"2013","unstructured":"Lloyd-Fox S, Blasi A, Elwell CE, Charman T, Murphy D, Johnson MH. Reduced neural sensitivity to social stimuli in infants at risk for autism. Proc Biol Sci. 2013;280(1758):20123026.","journal-title":"Proc Biol Sci"},{"key":"9516_CR28","doi-asserted-by":"publisher","first-page":"92","DOI":"10.1016\/j.dcn.2016.11.005","volume":"25","author":"S Lloyd-Fox","year":"2017","unstructured":"Lloyd-Fox S, Begus K, Halliday D, Pirazzoli L, Blasi A, Papademetriou M, et al. Cortical specialisation to social stimuli from the first days to the second year of life: a rural Gambian cohort. Dev Cogn Neurosci. 2017;25:92\u2013104.","journal-title":"Dev Cogn Neurosci"},{"issue":"182","key":"9516_CR29","doi-asserted-by":"publisher","first-page":"53","DOI":"10.1002\/ajmg.a.61382","volume":"1","author":"GCB Bindels-de Heus","year":"2020","unstructured":"Bindels-de Heus GCB, Herrman-Mous SE, ten Hooven-Radstaake M, van Iperen-Kolk BM, Navis C, Rietman AB, et al. An overview of health issues and development in a large clinical cohort of children with Angelman syndrome. Am J Med Genet A. 2020;1(182):53\u201363.","journal-title":"Am J Med Genet A"},{"issue":"3","key":"9516_CR30","doi-asserted-by":"publisher","first-page":"280","DOI":"10.1038\/nn1845","volume":"10","author":"GM van Woerden","year":"2007","unstructured":"van Woerden GM, Harris KD, Hojjati MR, Gustin RM, Qiu S, de Avila FR, et al. Rescue of neurological deficits in a mouse model for Angelman syndrome by reduction of alphaCaMKII inhibitory phosphorylation. Nat Neurosci. 2007;10(3):280\u20132.","journal-title":"Nat Neurosci"},{"issue":"7539","key":"9516_CR31","doi-asserted-by":"publisher","first-page":"409","DOI":"10.1038\/nature13975","volume":"518","author":"L Meng","year":"2015","unstructured":"Meng L, Ward AJ, Chun S, Bennett CF, Beaudet AL, Rigo F. Towards a therapy for Angelman syndrome by targeting a long non-coding RNA. Nature. 2015;518(7539):409\u201312.","journal-title":"Nature"},{"key":"9516_CR32","unstructured":"Erasmus MC Sophia Children\u2019s Hospital. Sophia bus. Erasmus MC; 2023. Available from: https:\/\/www.erasmusmc.nl\/nl-nl\/sophia\/pages\/sophia-bus#cb0a51c5-90b0-449b-b5e9-b3bf9b2faf64."},{"key":"9516_CR33","doi-asserted-by":"publisher","unstructured":"Erel Y, Jaffe-Dax S, Yeshurun Y, Bermano A. STORM-Net: simple and timely optode registration method for functional near-infrared spectroscopy (fNIRS). BioRxiv [Preprint]. 2020:15. https:\/\/doi.org\/10.1101\/2020.12.29.424683. Cited 2023 Jun 28.","DOI":"10.1101\/2020.12.29.424683"},{"key":"9516_CR34","doi-asserted-by":"publisher","first-page":"73","DOI":"10.1016\/j.bandc.2018.11.001","volume":"128","author":"AP Key","year":"2018","unstructured":"Key AP, Jones D, Peters S, Dold C. Feasibility of using auditory event-related potentials to investigate learning and memory in nonverbal individuals with Angelman syndrome. Brain Cogn. 2018;128:73\u20139.","journal-title":"Brain Cogn"},{"issue":"3","key":"9516_CR35","doi-asserted-by":"publisher","first-page":"261","DOI":"10.1016\/j.yebeh.2011.11.027","volume":"23","author":"M Vendrame","year":"2012","unstructured":"Vendrame M, Loddenkemper T, Zarowski M, Gregas M, Shuhaiber H, Sarco DP, et al. Analysis of EEG patterns and genotypes in patients with Angelman syndrome. Epilepsy Behav. 2012;23(3):261\u20135.","journal-title":"Epilepsy Behav"},{"issue":"5","key":"9516_CR36","doi-asserted-by":"publisher","first-page":"18","DOI":"10.1167\/16.5.18","volume":"16","author":"MJ Kooiker","year":"2016","unstructured":"Kooiker MJ, van der Steen J, Pel JJ. Development of salience-driven and visually-guided eye movement responses. J Vis. 2016;16(5):18.","journal-title":"J Vis"},{"key":"9516_CR37","doi-asserted-by":"publisher","first-page":"147","DOI":"10.1016\/j.bbr.2012.07.030","volume":"251","author":"M Elsabbagh","year":"2013","unstructured":"Elsabbagh M, Gliga T, Pickles A, Hudry K, Charman T, Johnson MH, et al. The development of face orienting mechanisms in infants at-risk for autism. Behav Brain Res. 2013;251:147\u201354.","journal-title":"Behav Brain Res"},{"issue":"4","key":"9516_CR38","doi-asserted-by":"publisher","first-page":"598","DOI":"10.1038\/sj.ijo.0803232","volume":"30","author":"HD McCarthy","year":"2006","unstructured":"McCarthy HD, Cole TJ, Fry T, Jebb SA, Prentice AM. Body fat reference curves for children. Int J Obes (Lond). 2006;30(4):598\u2013602.","journal-title":"Int J Obes (Lond)"},{"issue":"3","key":"9516_CR39","doi-asserted-by":"publisher","first-page":"176","DOI":"10.1080\/17477160600858740","volume":"1","author":"C Azcona","year":"2006","unstructured":"Azcona C, Koek N, Fruhbeck G. Fat mass by air-displacement plethysmography and impedance in obese\/non-obese children and adolescents. Int J Pediatr Obes. 2006;1(3):176\u201382.","journal-title":"Int J Pediatr Obes"},{"key":"9516_CR40","doi-asserted-by":"publisher","first-page":"472","DOI":"10.5014\/ajot.60.4.472","volume":"60","author":"NC Walz","year":"2006","unstructured":"Walz NC, Baranek GT. Sensory processing patterns in persons with Angelman syndrome. Am J Occup Ther. 2006;60:472\u20139.","journal-title":"Am J Occup Ther"},{"issue":"8","key":"9516_CR41","doi-asserted-by":"publisher","first-page":"1859","DOI":"10.1016\/j.clinph.2020.04.174","volume":"131","author":"J Palix","year":"2020","unstructured":"Palix J, Giuliani F, Sierro G, Brandner C, Favrod J. Temporal regularity of cerebral activity at rest correlates with slowness of reaction times in intellectual disability. Clin Neurophysiol. 2020;131(8):1859\u201365.","journal-title":"Clin Neurophysiol"},{"issue":"10","key":"9516_CR42","doi-asserted-by":"publisher","first-page":"909","DOI":"10.1016\/S2215-0366(15)00376-4","volume":"2","author":"C Richards","year":"2015","unstructured":"Richards C, Jones C, Groves L, Moss J, Oliver C. Prevalence of autism spectrum disorder phenomenology in genetic disorders: a systematic review and meta-analysis. Lancet Psychiatry. 2015;2(10):909\u201316.","journal-title":"Lancet Psychiatry"},{"issue":"2","key":"9516_CR43","doi-asserted-by":"publisher","first-page":"110","DOI":"10.1002\/ajmg.a.30065","volume":"128A","author":"SU Peters","year":"2004","unstructured":"Peters SU, Goddard-Finegold J, Beaudet AL, Madduri N, Turcich M, Bacino CA. Cognitive and adaptive behavior profiles of children with Angelman syndrome. Am J Med Genet A. 2004;128A(2):110\u20133.","journal-title":"Am J Med Genet A"},{"issue":"6","key":"9516_CR44","doi-asserted-by":"publisher","first-page":"1290","DOI":"10.1002\/ajmg.a.33964","volume":"155A","author":"D Adams","year":"2011","unstructured":"Adams D, Horsler K, Oliver C. Age related change in social behavior in children with Angelman syndrome. Am J Med Genet A. 2011;155A(6):1290\u20137.","journal-title":"Am J Med Genet A"},{"issue":"1","key":"9516_CR45","doi-asserted-by":"publisher","first-page":"10","DOI":"10.3390\/brainsci12010010","volume":"12","author":"F Masedu","year":"2021","unstructured":"Masedu F, Vagnetti R, Pino MC, Valenti M, Mazza M. Comparison of visual fixation trajectories in toddlers with autism spectrum disorder and typical development: a Markov chain model. Brain Sci. 2021;12(1):10.","journal-title":"Brain Sci"},{"issue":"1","key":"9516_CR46","doi-asserted-by":"publisher","first-page":"81","DOI":"10.1002\/ajmg.a.33775","volume":"155A","author":"WH Tan","year":"2011","unstructured":"Tan WH, Bacino CA, Skinner SA, Anselm I, Barbieri-Welge R, Bauer-Carlin A, et al. Angelman syndrome: mutations influence features in early childhood. Am J Med Genet A. 2011;155A(1):81\u201390.","journal-title":"Am J Med Genet A"},{"issue":"3\u20135","key":"9516_CR47","first-page":"100","volume":"2","author":"A Dagli","year":"2012","unstructured":"Dagli A, Buiting K, Williams CA. Molecular and clinical aspects of Angelman syndrome. Mol Syndromol. 2012;2(3\u20135):100\u201312.","journal-title":"Mol Syndromol"},{"issue":"11","key":"9516_CR48","doi-asserted-by":"publisher","first-page":"2681","DOI":"10.1016\/j.ridd.2014.07.025","volume":"35","author":"LG Mertz","year":"2014","unstructured":"Mertz LG, Christensen R, Vogel I, Hertz JM, Ostergaard JR. Eating behavior, prenatal and postnatal growth in Angelman syndrome. Res Dev Disabil. 2014;35(11):2681\u201390.","journal-title":"Res Dev Disabil"},{"issue":"18","key":"9516_CR49","doi-asserted-by":"publisher","first-page":"5981","DOI":"10.3390\/jcm12185981","volume":"12","author":"K Bindels-de Heus","year":"2023","unstructured":"Bindels-de Heus K, Hagenaar DA, Dekker I, van der Kaay DCM, Kerkhof GF, Encore Expertise Center For A, et al. Hyperphagia, growth, and puberty in children with Angelman syndrome. J Clin Med. 2023;12(18):5981.","journal-title":"J Clin Med"},{"issue":"3","key":"9516_CR50","doi-asserted-by":"publisher","first-page":"265","DOI":"10.1177\/1362361307076925","volume":"11","author":"LL Speer","year":"2007","unstructured":"Speer LL, Cook AE, McMahon WM, Clark E. Face processing in children with autism: effects of stimulus contents and type. Autism. 2007;11(3):265\u201377.","journal-title":"Autism"},{"issue":"1","key":"9516_CR51","doi-asserted-by":"publisher","first-page":"13185","DOI":"10.1038\/s41598-020-69898-9","volume":"10","author":"G Donati","year":"2020","unstructured":"Donati G, Davis R, Forrester GS. Gaze behaviour to lateral face stimuli in infants who do and do not gain an ASD diagnosis. Sci Rep. 2020;10(1):13185.","journal-title":"Sci Rep"},{"key":"9516_CR52","doi-asserted-by":"publisher","first-page":"1943","DOI":"10.3389\/fpsyg.2018.01943","volume":"9","author":"E Mercure","year":"2018","unstructured":"Mercure E, Quiroz I, Goldberg L, Bowden-Howl H, Coulson K, Gliga T, et al. Impact of language experience on attention to faces in infancy: evidence from unimodal and bimodal bilingual infants. Front Psychol. 2018;9:1943.","journal-title":"Front Psychol"},{"issue":"11","key":"9516_CR53","doi-asserted-by":"publisher","first-page":"6732","DOI":"10.1364\/BOE.409317","volume":"11","author":"MS Sappia","year":"2020","unstructured":"Sappia MS, Hakimi N, Colier W, Horschig JM. Signal quality index: an algorithm for quantitative assessment of functional near infrared spectroscopy signal quality. Biomed Opt Express. 2020;11(11):6732\u201354.","journal-title":"Biomed Opt Express"},{"issue":"1","key":"9516_CR54","doi-asserted-by":"publisher","first-page":"16","DOI":"10.1177\/014860710302700116","volume":"27","author":"SA McClave","year":"2003","unstructured":"McClave SA, Spain DA, Skolnick JL, Lowen CC, Kieber MJ, Wickerham PS, et al. Achievement of steady state optimizes results when performing indirect calorimetry. JPEN J Parenter Enteral Nutr. 2003;27(1):16\u201320.","journal-title":"JPEN J Parenter Enteral Nutr"},{"issue":"6","key":"9516_CR55","doi-asserted-by":"publisher","first-page":"693","DOI":"10.1177\/0148607112441948","volume":"36","author":"CD Smallwood","year":"2012","unstructured":"Smallwood CD, Mehta NM. Accuracy of abbreviated indirect calorimetry protocols for energy expenditure measurement in critically ill children. JPEN J Parenter Enteral Nutr. 2012;36(6):693\u20139.","journal-title":"JPEN J Parenter Enteral Nutr"},{"issue":"8","key":"9516_CR56","doi-asserted-by":"crossref","first-page":"e220276","DOI":"10.1530\/EC-22-0276","volume":"11","author":"J Van Schaik","year":"2022","unstructured":"Van Schaik J, Burghard M, Lequin MH, van Maren EA, van Dijk AM, Takken T, et al. Resting energy expenditure in children at risk of hypothalamic dysfunction. Endocr Connect. 2022;11(8):e220276.","journal-title":"Endocr Connect"},{"issue":"5","key":"9516_CR57","doi-asserted-by":"publisher","first-page":"1802","DOI":"10.3758\/s13428-016-0822-1","volume":"49","author":"RS Hessels","year":"2017","unstructured":"Hessels RS, Niehorster DC, Kemner C, Hooge ITC. Noise-robust fixation detection in eye movement data: identification by two-means clustering (I2MC). Behav Res Methods. 2017;49(5):1802\u201323.","journal-title":"Behav Res Methods"},{"issue":"4","key":"9516_CR58","doi-asserted-by":"publisher","first-page":"1694","DOI":"10.3758\/s13428-015-0676-y","volume":"48","author":"RS Hessels","year":"2016","unstructured":"Hessels RS, Kemner C, van den Boomen C, Hooge IT. The area-of-interest problem in eyetracking research: a noise-robust solution for face and sparse stimuli. Behav Res Methods. 2016;48(4):1694\u2013712.","journal-title":"Behav Res Methods"},{"issue":"Suppl 1","key":"9516_CR59","first-page":"5","volume":"39","author":"WN Schofield","year":"1985","unstructured":"Schofield WN. Predicting basal metabolic rate, new standards and review of previous work. Hum Nutr Clin Nutr. 1985;39(Suppl 1):5\u201341.","journal-title":"Hum Nutr Clin Nutr"},{"key":"9516_CR60","doi-asserted-by":"publisher","first-page":"100710","DOI":"10.1016\/j.dcn.2019.100710","volume":"40","author":"RS Hessels","year":"2019","unstructured":"Hessels RS, Hooge ITC. Eye tracking in developmental cognitive neuroscience - the good, the bad and the ugly. Dev Cogn Neurosci. 2019;40:100710.","journal-title":"Dev Cogn Neurosci"}],"container-title":["Journal of Neurodevelopmental Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s11689-024-09516-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s11689-024-09516-1\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s11689-024-09516-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,1]],"date-time":"2024-03-01T16:03:30Z","timestamp":1709309010000},"score":1,"resource":{"primary":{"URL":"https:\/\/jneurodevdisorders.biomedcentral.com\/articles\/10.1186\/s11689-024-09516-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,3,1]]},"references-count":60,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2024,12]]}},"alternative-id":["9516"],"URL":"https:\/\/doi.org\/10.1186\/s11689-024-09516-1","relation":{},"ISSN":["1866-1955"],"issn-type":[{"value":"1866-1955","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,3,1]]},"assertion":[{"value":"29 June 2023","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"29 January 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"1 March 2024","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"This study was approved by the medical ethical board of the Erasmus MC (MEC-2020-0489). All legal representatives participants (their legal representatives) signed informed consent.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Not applicable.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"MCdW is the Erasmus MC study site leader for the Roche Tangelo study, and the hospital received funding for this study. The hospital also received compensation for advice to Roche and Jazz Pharmaceuticals. The department of Child- and Adolescent Psychiatry\/Psychology (Erasmus MC) is the Dutch distributer of the Achenbach System of Empirically Based Assessment (ASEBA) measurement instruments, which include the Child Behaviour Checklist (CBCL). The department receives financial compensation for selling the measurement instruments. All other authors have no conflict of interest to declare.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"6"}}