{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T09:02:59Z","timestamp":1792141379764,"version":"4.4.0"},"reference-count":49,"publisher":"MDPI AG","issue":"11","license":[{"start":{"date-parts":[[2024,6,4]],"date-time":"2024-06-04T00:00:00Z","timestamp":1717459200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Moebius syndrome is a collection of orofacial anomalies with highly variable features affecting many different systems but characterised by bilateral facial palsy and absent eye abduction. We largely regard Moebius syndrome as a diagnosis of exclusion. Lack of awareness and knowledge means that children often fall between services, leading to treatment delays and difficulty interfacing with social care and schools, with long-term impact on physical health and psychosocial development. We developed a multidisciplinary team comprising core clinicians (lead physician, geneticist, speech and language therapist, psychologist and specialist nurse) and an expanded group to encompass the other affected systems. The interactions between our specialties lead to the development of a treatment protocol, which we present. The protocol harnesses the aspects of care of children with a range of other rare diseases at a specialised paediatric centre and synthesises them into a holistic approach for MBS and related conditions. Management is sequenced on an \u201cABC-style\u201d basis, with airway, feeding, vision and speech taking priority in the early years. We define management priorities as airway stabilisation with swallow assessment, ocular surface protection and maintenance of nutritional support. Management principles for issues such as speech, reflux, drooling and sleep issues are outlined. In later years, psychological support has a prominent role geared towards monitoring and interventions for low mood, self-esteem and bullying.<\/jats:p>","DOI":"10.3390\/jcm13113309","type":"journal-article","created":{"date-parts":[[2024,6,4]],"date-time":"2024-06-04T05:17:30Z","timestamp":1717478250000},"page":"3309","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Multidisciplinary Care for Moebius Syndrome and Related Disorders: Building a Management Protocol"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1902-9503","authenticated-orcid":false,"given":"Amar","family":"Odedra","sequence":"first","affiliation":[{"name":"Regional Paediatric Burns and Plastic Surgery Service, Alder Hey Children\u2019s NHS Foundation Trust, Liverpool L12 2AP, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wendy","family":"Blumenow","sequence":"additional","affiliation":[{"name":"Department of Speech and Language Therapy, Alder Hey Children\u2019s NHS Foundation Trust, Liverpool L12 2AP, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer","family":"Dainty","sequence":"additional","affiliation":[{"name":"Department of Psychology, Alder Hey Children\u2019s NHS Foundation Trust, Liverpool L12 2AP, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Soumit","family":"Dasgupta","sequence":"additional","affiliation":[{"name":"Department of Audiology, Alder Hey Children\u2019s NHS Foundation Trust, Liverpool L12 2AP, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susana","family":"Dominguez-Gonzalez","sequence":"additional","affiliation":[{"name":"Department of Orthodontics and Paediatric Dentistry, Alder Hey Children\u2019s NHS Foundation Trust, Liverpool L12 2AP, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3383-8590","authenticated-orcid":false,"given":"Jose","family":"Gonzalez-Martin","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Alder Hey Children\u2019s NHS Foundation Trust, Liverpool L12 2AP, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen","family":"Hartley","sequence":"additional","affiliation":[{"name":"Therapy Department, Alder Hey Children\u2019s NHS Foundation Trust, Liverpool L12 2AP, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-0211-3353","authenticated-orcid":false,"given":"Maria","family":"Kelly","sequence":"additional","affiliation":[{"name":"Regional Paediatric Burns and Plastic Surgery Service, Alder Hey Children\u2019s NHS Foundation Trust, Liverpool L12 2AP, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Victoria H.","family":"McKay","sequence":"additional","affiliation":[{"name":"Department of Genetics, Liverpool Women\u2019s Hospital, Liverpool L8 7SS, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ravi","family":"Sharma","sequence":"additional","affiliation":[{"name":"Ear Nose and Throat Department, Alder Hey Children\u2019s NHS Foundation Trust, Liverpool L12 2AP, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefan","family":"Spinty","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology, Alder Hey Children\u2019s NHS Foundation Trust, Liverpool L12 2AP, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adel Y.","family":"Fattah","sequence":"additional","affiliation":[{"name":"Regional Paediatric Burns and Plastic Surgery Service, Alder Hey Children\u2019s NHS Foundation Trust, Liverpool L12 2AP, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,6,4]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1212\/01.WNL.0000076484.91275.CD","article-title":"M\u00f6bius syndrome redefined: A syndrome of rhombencephalic maldevelopment","volume":"61","author":"Verzijl","year":"2003","journal-title":"Neurology"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"649","DOI":"10.1212\/01.WNL.0000151848.65094.55","article-title":"The neuropathology of hereditary congenital facial palsy vs M\u00f6bius syndrome","volume":"64","author":"Verzijl","year":"2005","journal-title":"Neurology"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"678","DOI":"10.1136\/archdischild-2014-307035","article-title":"The congenital cranial dysinnervation disorders","volume":"100","author":"Gutowski","year":"2015","journal-title":"Arch. Dis. Child."},{"key":"ref_4","first-page":"257","article-title":"Will the real Moebius syndrome please stand up? A systematic review of the literature and statistical cluster analysis of clinical features","volume":"117","author":"Bell","year":"2018","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"843","DOI":"10.1136\/archdischild-2015-310043","article-title":"Managing the child with a diagnosis of Moebius syndrome: More than meets the eye","volume":"101","author":"McKay","year":"2016","journal-title":"Arch. Dis. Child."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1016\/j.bja.2023.08.040","article-title":"Airway management in neonates and infants: European Society of Anaesthesiology and Intensive Care and British Journal of Anaesthesia joint guidelines","volume":"132","author":"Disma","year":"2024","journal-title":"Br. J. Anaesth."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1097\/MPG.0000000000000501","article-title":"ESPGHAN Position Paper on Management of Percutaneous Endoscopic Gastrostomy in Children and Adolescents","volume":"60","author":"Heuschkel","year":"2015","journal-title":"J. Pediatr. Gastroenterol. Nutr."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"652","DOI":"10.1016\/j.clnu.2014.07.007","article-title":"A retrospective review of enteral nutrition support practices at a tertiary pediatric hospital","volume":"34","author":"Ricciuto","year":"2015","journal-title":"Clin. Nutr."},{"key":"ref_9","first-page":"CD008096","article-title":"Percutaneous endoscopic gastrostomy versus nasogastric tube feeding for adults with swallowing disturbances","volume":"2017","author":"Gomes","year":"2015","journal-title":"Cochrane Database Syst. Rev."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"1461","DOI":"10.1016\/j.ophtha.2014.01.006","article-title":"Diagnostic Distinctions and Genetic Analysis of Patients Diagnosed with Moebius Syndrome","volume":"121","author":"MacKinnon","year":"2014","journal-title":"Ophthalmology"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1080\/09273972.2019.1599402","article-title":"Long-term outcomes of strabismus surgery in Mobius sequence","volume":"27","author":"Lueder","year":"2019","journal-title":"Strabismus"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"397e","DOI":"10.1097\/PRS.0000000000000994","article-title":"Corneal Neurotization from the Supratrochlear Nerve with Sural Nerve Grafts","volume":"135","author":"Bains","year":"2015","journal-title":"Plast. Reconstr. Surg."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"1457","DOI":"10.1016\/j.ijporl.2007.06.002","article-title":"Audiologic results in patients with Moebi\u00fcs sequence","volume":"71","author":"Griz","year":"2007","journal-title":"Int. J. Pediatr. Otorhinolaryngol."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1001\/archotol.1979.00790130033008","article-title":"Pathophysiological effects of M\u00f6bius syndrome on speech and hearing","volume":"105","author":"Kahane","year":"1979","journal-title":"Arch. Otolaryngol."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"195","DOI":"10.12968\/hmed.2010.71.4.47526","article-title":"Methods of hearing assessment in children","volume":"71","author":"Alaani","year":"2010","journal-title":"Br. J. Hosp. Med."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1111\/j.1469-8749.1978.tb15225.x","article-title":"Speech, language and hearing in Moebius syndrome: A study of 22 patients","volume":"20","author":"Meyerson","year":"1978","journal-title":"Dev. Med. Child Neurol."},{"key":"ref_17","first-page":"8","article-title":"Dizziness and Balance Problems in Children","volume":"22","author":"Dasgupta","year":"2020","journal-title":"Paed. Neurol."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"1890","DOI":"10.1097\/01.PRS.0000091245.32905.D5","article-title":"Velopharyngeal Incompetence: A guide for clinical evaluation","volume":"112","author":"Johns","year":"2003","journal-title":"Plast. Reconstr. Surg."},{"key":"ref_19","unstructured":"Azzizadeh, B., and Nduka, C. (2022). Management of Post-Facial Paralysis Synkinesis, Elsevier."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1016\/j.cden.2008.12.006","article-title":"Dental Care for Patients Who Are Unable to Open Their Mouths","volume":"53","author":"Nussbaum","year":"2009","journal-title":"Dent. Clin. N. Am."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1034\/j.1601-5037.2003.00010.x","article-title":"Mobius syndrome: A dental hygiene case study and review of the literature","volume":"1","author":"Sensat","year":"2003","journal-title":"Int. J. Dent. Hyg."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"e1","DOI":"10.1016\/j.jcms.2012.07.002","article-title":"Orthognathic surgery for the complete rehabilitation of Moebius patients: Principles, timing and our experience","volume":"41","author":"Bianchi","year":"2013","journal-title":"J. Cranio-Maxillo Fac. Surg."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"725","DOI":"10.1111\/j.1365-2125.2005.02422.x","article-title":"Should domperidone be used for the treatment of gastro-oesophageal reflux in children? Systematic review of randomized controlled trials in children aged 1 month to 11 years old","volume":"59","author":"Pritchard","year":"2005","journal-title":"Br. J. Clin. Pharmacol."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1016\/S0887-8994(02)00381-8","article-title":"Botulinum toxin A as a treatment for excessive drooling in children","volume":"27","author":"Bothwell","year":"2002","journal-title":"Pediatr. Neurol."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1007\/s40136-018-0188-2","article-title":"Surgical Management of the Drooling Child","volume":"6","author":"Lawrence","year":"2018","journal-title":"Curr. Otorhinolaryngol. Rep."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"1000","DOI":"10.1111\/j.1469-8749.2010.03707.x","article-title":"The effects of oral-motor exercises on swallowing in children: An evidence-based systematic review","volume":"52","author":"Arvedson","year":"2010","journal-title":"Dev. Med. Child Neurol."},{"key":"ref_27","first-page":"5","article-title":"Contact dermatitis due to transdermal therapeutic systems: A clinical update","volume":"90","author":"Romita","year":"2018","journal-title":"Acta Biomed. Atenei Parm."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"442","DOI":"10.1016\/j.bjoms.2019.04.001","article-title":"Treatment of sialorrhoea with repeated ultrasound-guided injections of botulinum toxin A into the parotid and submandibular glands","volume":"57","author":"Taib","year":"2019","journal-title":"Br. J. Oral Maxillofac. Surg."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"fcaa014","DOI":"10.1093\/braincomms\/fcaa014","article-title":"Brain phenotyping in Moebius syndrome and other congenital facial weakness disorders by diffusion MRI morphometry","volume":"2","author":"Sadeghi","year":"2020","journal-title":"Brain Commun."},{"key":"ref_30","first-page":"S46","article-title":"Construction and validation of the Alberta Infant Motor Scale (AIMS)","volume":"83","author":"Piper","year":"1992","journal-title":"Can. J. Public Health Rev. Can. Sante Publique"},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1111\/j.1469-8749.1989.tb04003.x","article-title":"The Gross motor function measure: A means to evaluate the effects of physical therapy","volume":"31","author":"Russell","year":"1989","journal-title":"Dev. Med. Child Neurol."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1046\/j.1365-2869.1999.00004.x","article-title":"Genetic factors in human sleep disorders with special reference to Norrie disease, Prader-Willi syndrome and Moebius syndrome","volume":"8","author":"Parkes","year":"1999","journal-title":"J. Sleep Res."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"145","DOI":"10.3109\/15513818309040652","article-title":"Medullary nuclear dysplasia (M\u00f6bius syndrome) in an infant with recurrent apnea and isoelectric EEG","volume":"1","author":"Iannaccone","year":"1983","journal-title":"Pediatr. Pathol."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1177\/088307389100600115","article-title":"Sleep-disordered breathing in M\u00f6bius syndrome","volume":"6","author":"Gilmore","year":"1991","journal-title":"J. Child Neurol."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"127","DOI":"10.5664\/jcsm.1760","article-title":"Characteristics of REM Sleep Behavior Disorder in Childhood","volume":"8","author":"Lloyd","year":"2012","journal-title":"J. Clin. Sleep Med."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"360","DOI":"10.1037\/a0021674","article-title":"Perceived Stigmatization and Social Comfort: Validating the Constructs and Their Measurement Among Pediatric Burn Survivors","volume":"55","author":"Lawrence","year":"2010","journal-title":"Rehabil. Psychol."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"515","DOI":"10.1007\/s00787-009-0003-1","article-title":"Autism spectrum disorders in children and adolescents with Moebius sequence","volume":"18","author":"Briegel","year":"2009","journal-title":"Eur. Child Adolesc. Psych."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"1462","DOI":"10.1016\/j.ridd.2010.06.012","article-title":"Moebius sequence and autism spectrum disorders\u2014Less frequently associated than formerly thought","volume":"31","author":"Briegel","year":"2010","journal-title":"Res. Dev. Disabil."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"314","DOI":"10.1111\/j.1651-2227.1989.tb11076.x","article-title":"Autistic behaviour in Moebius syndrome","volume":"78","author":"Gillberg","year":"1989","journal-title":"Acta Paediatr. Scand."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"338","DOI":"10.1111\/j.1469-8749.2001.tb00214.x","article-title":"Autistic spectrum disorders in M\u00f6bius sequence: A comprehensive study of 25 individuals","volume":"43","author":"Johansson","year":"2001","journal-title":"Dev. Med. Child Neurol."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"213","DOI":"10.3389\/fneur.2015.00213","article-title":"Training in Compensatory Strategies Enhances Rapport in Interactions Involving People with M\u00f6bius Syndrome","volume":"6","author":"Michael","year":"2015","journal-title":"Front. Neurol."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1001\/jamafacial.2016.1883","article-title":"Photographic Standards for Patients with Facial Palsy and Recommendations by Members of the Sir Charles Bell Society","volume":"19","author":"Santosa","year":"2017","journal-title":"JAMA Facial Plast. Surg."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"569","DOI":"10.1097\/PRS.0000000000000905","article-title":"Facial Nerve Grading Instruments","volume":"135","author":"Fattah","year":"2015","journal-title":"Plast. Reconstr. Surg."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"727","DOI":"10.1016\/S0030-6665(20)30165-1","article-title":"Neuromuscular retraining for facial paralysis","volume":"30","author":"Diels","year":"1997","journal-title":"Otolaryngol. Clin. N. Am."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1097\/00000637-198903000-00005","article-title":"A Smile for the M\u00f6bius\u2019 Syndrome Patient","volume":"22","author":"Zuker","year":"1989","journal-title":"Ann. Plast. Surg."},{"key":"ref_46","doi-asserted-by":"crossref","unstructured":"Simmons, J.K., Nadeem, W., Salehi, P.P., and Azizzadeh, B. (2024). A New Technique in Facial Reanimation Surgery for Moebius Syndrome. Facial Plast. Surg. Aesthet. Med.","DOI":"10.1089\/fpsam.2023.0279"},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"386","DOI":"10.1159\/000363684","article-title":"The development of auditory perception in children after auditory brainstem implantation","volume":"19","author":"Colletti","year":"2014","journal-title":"Audiol. Neurootol."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"406","DOI":"10.1016\/j.clinph.2004.08.009","article-title":"General vestibular testing","volume":"116","author":"Brandt","year":"2005","journal-title":"Clin. Neurophysiol."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"753","DOI":"10.1111\/jpc.12867","article-title":"Physical therapy management for balance deficits in children with hearing impairments: A systematic review","volume":"51","author":"Fernandes","year":"2015","journal-title":"J. Paediatr. Child Health"}],"container-title":["Journal of Clinical Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2077-0383\/13\/11\/3309\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T14:53:27Z","timestamp":1760108007000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2077-0383\/13\/11\/3309"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,6,4]]},"references-count":49,"journal-issue":{"issue":"11","published-online":{"date-parts":[[2024,6]]}},"alternative-id":["jcm13113309"],"URL":"https:\/\/doi.org\/10.3390\/jcm13113309","relation":{},"ISSN":["2077-0383"],"issn-type":[{"value":"2077-0383","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,6,4]]}}}